Preferred Label : Diarrhea 1, secretory chloride, congenital;
Symbol : DIAR1;
CISMeF acronym : DIAR1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Chloridorrhea, congenital; Chloride diarrhea, congenital, finnish type;
Description : Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic
diarrhea characterized by excretion of large amounts of watery stool containing high
levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis.
The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364),
except that chloride diarrhea is not associated with calcium level abnormalities (summary
by Choi et al., 2009). - Genetic Heterogeneity of Congenital Diarrhea Other forms
of congenital diarrhea include microvillus inclusion disease (DIAR2; 251850), caused
by mutation in the MYO5B gene (606540) on chromosome 18q21; a syndromic form of congenital
secretory sodium diarrhea (see DIAR3, 270420), caused by mutation in the SPINT2 gene
(605124) on chromosome 19q13.1; malabsorptive congenital diarrhea (DIAR4; 610370),
caused by mutation in the NEUROG3 gene (604882) on chromosome 10q21.3; congenital
tufting enteropathy (DIAR5; 613217), caused by mutation in the EPCAM gene (185535)
on chromosome 2p21; and early-onset chronic diarrhea (DIAR6; 614616), caused by mutation
in the;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 26, member 3 gene (SLC26A3, 126650.0001);
Laboratory abnormalities : Hypokalemia; Hyponatremia; Hypochloremia; Increased serum bicarbonate; Increased aldosterone; Increased plasma renin activity;
Prefixed ID : #214700;
Origin ID : 214700;
UMLS CUI : C0267662;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
