Which of the following is autosomal dominant disease?
Ans. C. MEN 2. (Ref. Robbin's pathology 8th/pg. Table 7-2 & 7-3; H-17th/pg.2362)# MEN2 is autosomal dominant disease.# Wilson's disease has an autosomal recessive pattern of inheritance. Wilson's disease gene (ATP7B) has been mapped to chromosome 13# Hemochromatosis: The demonstration of an association between hemochromatosis and the histocompatibility antigens HLA- A3, HLA-B14, and HLA-B7 has confirmed the genetic basis for the disease. The mode of inheritance is autosomal recessive.Autosomal Dominant DisordersSystemDisorderNervousHuntington disease, Neurofibromatosis,Myotonic dystrophy,Tuberous sclerosisUrinaryPolycystic kidney diseaseG1Familial polyposis coliHematopoieticHereditary spherocytosis,Von Willebrand diseaseSkeletalMarfan syndrome, Ehlers-Danlos syndrome (some variants);Osteogenesis imperfecta;AchondroplasiametabolicFamilial hypercholesterolemia;Acute intermittent porphyriaAutosomal Recessive DisordersSystemDisorderMetabolicCystic fibrosis, Hemochromatosis, Phenylketonuria*,Galactosemia, Homocystinuria,Lysosomal storage diseases, ?1-Antitrypsin deficiency, Wilson disease, Glycogen storage diseases*HematopoieticSickle cell anemia, ThalassemiasEndocrineCongenital adrenal hyperplasiaSkeletalEhlers-Danlos syndrome (some variants), AlkaptonuriaNervous atrophiesNeurogenic muscular, Friedreich ataxia, Spinal muscular atrophy
Wilson's disease
Hemochromatosis
MEN 2
All of the above
Genetics