HYCHL
MCID: HYP267
MIFTS: 24
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Hyperchlorhidrosis, Isolated (HYCHL)
Categories:
Blood diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy favorable response to sodium chloride treatment normal growth and development after 1 year of age HPO:31
hyperchlorhidrosis, isolated:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Blood diseases
Orphanet: 58
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MedlinePlus Genetics :
43
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 isolated hyperchlorhidrosis, is related to pseudohypoaldosteronism. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12). Related phenotypes are failure to thrive and hyponatremia Disease Ontology : 12 A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has material basis in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2. 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) (Updated 05-Mar-2021) KEGG : 36 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 : 73 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. |
Diseases related to Hyperchlorhidrosis, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hyperchlorhidrosis, Isolated:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:143860 (Updated 05-Mar-2021) |
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Articles related to Hyperchlorhidrosis, Isolated:
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ClinVar genetic disease variations for Hyperchlorhidrosis, Isolated:6
UniProtKB/Swiss-Prot genetic disease variations for Hyperchlorhidrosis, Isolated:73
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