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congenital secretory sodium diarrhea 8 (DIAR8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital secretory sodium diarrhea 8

MONDO:0014808

Also known as:DIAR8SLC9A3 secretory diarrheaSLC9A3 secretory diarrhoea

Overview

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.

GeneticsAutosomal recessive · SLC9A3 (chr 5)

OnsetCONGENITAL

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Polyhydramnios, Abdominal distention, Elevated stool chloride content, and Secretory diarrhea; and very common findings: Dependency on parenteral nutrition, Reduced fecal osmolality, and Elevated fecal sodium. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Inflammation of the large intestine, Abdominal distention, Secretory diarrhea

Genetic Landscape

SLC9A3 function has not been fully characterized.

Congenital secretory sodium diarrhea 8 is associated with mutations in the SLC9A3 gene on chromosome 5.

Diagnosis

Genetic testing for SLC9A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 3 very common features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital secretory sodium diarrhea 8.

2 publications have been identified in PubMed for congenital secretory sodium diarrhea 8. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Gaibee Z (2025). [PMID: 40174224](https://pubmed.ncbi.nlm.nih.gov/40174224/). *N Engl J Med*. [Review / Meta-Analysis]
Alsarhan A (2025). [PMID: 41357560](https://pubmed.ncbi.nlm.nih.gov/41357560/). *ACG Case Rep J*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616868

GARD

Genetic and Rare Diseases Info Center

GARD:18261

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital secretory sodium diarrhea 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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