Hyperchlorhidrosis, Isolated (HCHLH)

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OMIM 57 143860 MedGen 42 C1840437 MeSH 44 D006945

KEGG 37 H01302 SNOMED-CT via HPO 69 263681008 258211005 36440009 432788009 34095006 14140009 166689004 238142003 89627008 78164000 more

Genetics Home Reference : ²⁵ Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because the salt is abnormally released from the body in sweat, there are lower than normal levels of sodium in fluids inside the body (hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or more episodes of dehydration with low levels of sodium in the blood (hyponatremic dehydration), which can require hospitalization. These episodes typically follow a mild illness that causes vomiting or diarrhea. Affected infants also have poor feeding and an inability to grow and gain weight at the expected rate (failure to thrive). By early childhood, though, weight and height usually catch up to normal, although the abnormal loss of salt still remains. These individuals may still experience dangerous hyponatremia when they sweat excessively, for example in warm temperatures or when exercising.

MalaCards based summary : Hyperchlorhidrosis, Isolated, also known as carbonic anhydrase xii deficiency, is related to lung cancer and alcoholic hepatitis. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12). Affiliated tissues include lung, kidney and t cells, and related phenotypes are failure to thrive and dehydration

OMIM : ⁵⁷ Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011). (143860)

UniProtKB/Swiss-Prot : ⁷⁵ Hyperchlorhidrosis, isolated: A disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat.

Clinical features from OMIM:

143860

Search Clinical Trials , NIH Clinical Center for Hyperchlorhidrosis, Isolated

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