MeSH Browser

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 MeSH Supplementary Concept Data 2024