Condition: Isolated hyperchlorhidrosis
rs148438059 in
CA12 gene and
Isolated hyperchlorhidrosis
PMID 26911677 2016 Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
PMID 21035102 2010 Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.
PMID 21184099 2011 Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.