DISEASE: Hyperchlorhidrosis isolated (HCHLH)
Hyperchlorhidrosis isolated (HCHLH)
Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis isolated (HCHLH) is autosomal recessive nonsyndromic disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is caused by homozygous mutation in CA12, encoding carbonic anhydrase.
Inherited metabolic disease
Human diseases [BR:
Congenital disorders of metabolism
Congenital disorders of ion transport and metabolism
H01302 Hyperchlorhidrosis isolated (HCHLH)
Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
Am J Hum Genet 87:713-20 (2010)
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