H01302 | |
H number | H01302 |
Name | Hyperchlorhidrosis isolated (HCHLH) |
Description | 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. |
Category | Inherited metabolic disorder |
Network | - |
Gene | CA12 [HSA:771] [KO:K01672] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | OMIM: 143860 |
Reference | PMID:21035102 AUTHORS Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS TITLE Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. JOURNAL Am J Hum Genet 87:713-20 (2010) DOI:10.1016/j.ajhg.2010.10.008 |