|
MCID: HYP267
MIFTS: 28
|
Hyperchlorhidrosis, Isolated
Categories:
Genetic diseases
|
|
|
|
MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy two families have been reported (last curated december 2010) hyponatremia usually associated with gastroenteritis favorable response to sodium chloride treatment normal growth and development after 1 year of age HPO:32
hyperchlorhidrosis, isolated:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications: |
|
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 t cells, lung and kidney, and related phenotypes are failure to thrive and abnormality of metabolism/homeostasis 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. |
Diseases related to Hyperchlorhidrosis, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of the top 20 diseases related to Hyperchlorhidrosis, Isolated:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:143860Human phenotypes related to Hyperchlorhidrosis, Isolated:32 (show all 6)
|
|
|
MalaCards organs/tissues related to Hyperchlorhidrosis, Isolated:41
T Cells,
Lung,
Kidney
|
Articles related to Hyperchlorhidrosis, Isolated:(show all 21)
|
Genes related to Hyperchlorhidrosis, Isolated (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Hyperchlorhidrosis, Isolated:75
ClinVar genetic disease variations for Hyperchlorhidrosis, Isolated:6
|
|
Search
GEO
for disease gene expression data for Hyperchlorhidrosis, Isolated.
|
|
|
|