<unk>  Syndrome can be classified into five different types based on genotype.<unk>  syndrome can result from homozygous or mixed heterozygous mutations in any of the genes. Thus, affecting the function of genes responsible for synthesis or membrane insertion of the transporters in the ascending limb of the loop of Henle. Mutation in NKCC2 gene results in impairment of sodium-potassium-chloride. cotransporter (Na-K-2Cl) in the apical membrane. Mutation in ROMK gene results in defective functioning of the luminal potassium channel. Mutation in the ClC-Kb gene results in the impairment of the basolateral chloride channel. Defects that reduce the activity of both ClC-Ka and ClC-Kb cause<unk>  syndrome associated with sensorineural deafness (types IV and IVb). Type 5<unk>  syndrome results from a gain-of-function mutation in the Ca-sensing receptor (CaSR). A gain-of-function mutation in CaSR in the basolateral membrane of the thick ascending limb enhances the function of this receptor. This results in hypocalcemia and impairs sodium chloride transport.<unk>  syndrome types 1, 2, and 4 present at a younger age. They present with symptoms, often quite severe in the neonatal period.<unk>  syndrome type 3 also called classic<unk>  syndrome present later in life and maybe sporadically asymptomatic or mildly symptomatic.
Barter Syndrome classification
Cowden syndrome classification
Hurler syndrome classification
Cretinism classification
Sezary syndrome classification
Encephalopathy classification
Bannayan-Riley-Ruvalcaba syndrome classification
Brugada syndrome classification