Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.
Features include always present findings: Elevated stool chloride content, Increased circulating aldosterone concentration, Increased circulating renin concentration, and Elevated serum bicarbonate concentration and others. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 3 | Increased circulating aldosterone concentration, Increased circulating renin concentration, Elevated serum bicarbonate concentration |
Growth and development | 3 | Failure to thrive, Growth abnormality, Growth delay |
Digestive system | 2 | Abdominal distention, Secretory diarrhea |
Metabolism | 1 | Metabolic alkalosis |
SLC26A3 function has not been fully characterized.
Congenital secretory chloride diarrhea 1 is associated with mutations in the SLC26A3 gene on chromosome 7.
Genetic testing for SLC26A3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features.
No clinical trials have been registered for congenital secretory chloride diarrhea 1.
3 publications have been identified in PubMed for congenital secretory chloride diarrhea 1. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).
Ye Z (2025). [PMID: 39870330](https://pubmed.ncbi.nlm.nih.gov/39870330/). *J Nutr Biochem*. [Basic Science / Preclinical]
Sarker R (2025). [PMID: 40569378](https://pubmed.ncbi.nlm.nih.gov/40569378/). *Am J Physiol Cell Physiol*. [Basic Science / Preclinical]
Li Q (2024). [PMID: 38704545](https://pubmed.ncbi.nlm.nih.gov/38704545/). *BMC Pediatr*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:12 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center