Diarrhea 1, secretory chloride, congenital

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;

Details

Origin ID

214700;

UMLS CUI

C0267662;

Currated CISMeF NLP mapping
- Congenital chloride diarrhea [PASCAL descriptor]
- Congenital chloride diarrhea [MeSH concept]
- Congenital chloride diarrhea [ORDO Disease]
- Congenital secretory diarrhea, chloride type (disorder) [SNOMED CT concept]
- congenital chloride diarrhea [MeSH Supplementary Concept]
- congenital chloridorrhea [Disease (Nov.)]
- congenital secretory chloride diarrhea 1 [DO Concept]
- congenital secretory diarrhea, chloride type [SNOMED Notion]
DO Cross reference
- congenital secretory chloride diarrhea 1 [DO Concept]
Genes related to phenotype
- Solute carrier family 26, member 3 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Alkalosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Elevated serum bicarbonate concentration [HPO term]
- Elevated stool chloride content [HPO term]
- Failure to thrive [HPO term]
- Growth abnormality [HPO term]
- Growth delay [HPO term]
- Hyperactive renin-angiotensin system [HPO term]
- Hyperaldosteronism [HPO term]
- Hypochloremia [HPO term]
- Hypokalemia [HPO term]
- Hyponatremia [HPO term]
- Increased circulating aldosterone concentration [HPO term]
- Increased circulating renin concentration [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Metabolic alkalosis [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Secretory diarrhea [HPO term]
ORDO concept(s)
- Congenital chloride diarrhea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital chloride diarrhea [ORDO Disease]
- Congenital chloride diarrhea [MeSH concept]
- Congenital secretory diarrhea, chloride type (disorder) [SNOMED CT concept]
- congenital chloride diarrhea [MeSH Supplementary Concept]
- congenital chloridorrhea [Disease (Nov.)]
- congenital secretory chloride diarrhea 1 [DO Concept]
- congenital secretory diarrhea, chloride type [SNOMED Notion]

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