KEGG   DISEASE: Hyperchlorhidrosis isolated (HCHLH)
Entry
H01302                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H01302  Hyperchlorhidrosis isolated (HCHLH)
Gene
CA12 [HSA:771] [KO:K01672]
Other DBs
OMIM: 143860
Reference
  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
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