Hyperchlorhidrosis, Isolated (HYCHL)

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OMIM 57 143860 KEGG 37 H01302 MeSH 44 D006945

Orphanet 59 ORPHA542657 MedGen 42 C1840437

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. While hyperchlorhidrosis can occur as one of several features of other conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions.

MalaCards based summary : Hyperchlorhidrosis, Isolated, also known as carbonic anhydrase xii deficiency, is related to pseudohypoaldosteronism. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12). Affiliated tissues include skin, 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)

KEGG : ³⁷ 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.

UniProtKB/Swiss-Prot : ⁷⁴ Hyperchlorhidrosis, isolated: An autosomal recessive 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

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