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Congenital chloride diarrhea MeSH Supplementary Concept Data 2024


MeSH Supplementary
Congenital chloride diarrhea
Unique ID
C536210
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536210
Entry Term(s)
Chloridorrhea, congenital
Congenital chloridorrhea
Darrow-Gamble disease
Diarrhea 1, secretory chloride, congenital
Registry Number
0
Heading Mapped to
Diarrhea / *congenital
*Metabolism, Inborn Errors
Frequency
56
Note
A hereditary autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of CHLORIDES, resulting in DEHYDRATION, HYPOKALEMIA, and metabolic ALKALOSIS. This disorder phenotypically resembles the renal disorder BARTTER SYNDROME (OMIM: 607364), however, it is not associated with calcium level abnormalities. Mutations in the SLC26A3 gene have been identified. OMIM: 214700
Date of Entry
2010/08/25
Revision Date
2015/08/18
Congenital chloride diarrhea Preferred
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