congenital secretory chloride diarrhea 1
Findings
No curated finding names congenital secretory chloride diarrhea 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0008964), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated serum bicarbonate concentrationHPOHP:0032067
- 6 of 6 reported patients
- Elevated stool chloride contentHPOHP:0034470
- 2 of 2 reported patients
- HypokalemiaHPOHP:0002900
- 6 of 6 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- 2 of 2 reported patients
- Increased circulating renin concentrationHPOHP:0000848
- 2 of 2 reported patients
- Secretory diarrheaHPOHP:0005208
- 6 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC26A3HGNC:3018
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: congenital secretory chloride diarrhea 1
- Also called
- congenital chloridorrheacongenital secretory chloride diarrhea type 1congenital secretory chloride diarrhoea type 1secretory diarrhea caused by mutation in SLC26A3secretory diarrhoea caused by mutation in SLC26A3SLC26A3 secretory diarrheaSLC26A3 secretory diarrhoea