" /> Diarrhea 6 - CISMeF





Preferred Label : Diarrhea 6;

Symbol : DIAR6;

CISMeF acronym : DIAR6;

Type : Phenotype, molecular basis known;

Description : Diarrhea-6 (DIAR6) is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanylate cyclase 2C gene (GUCY2C, 601330.0001);

Laboratory abnormalities : Vitamin B12 deficiency (in some patients);

Prefixed ID : #614616;

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30/07/2025


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