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GENATLAS PHENOTYPE
last update : 02-12-2010
Symbol HPCLD
Location 15q22
Name hyperchlorhidrosis
Corresponding gene CA12
Main clinical features
  • excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test
  • elevated sweat chloride, but with no evidence of cystic fibrosis or other disorder causing elevation of sweat chloride
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/membrane transport
    Type disease
    Remark(s)