congenital secretory sodium diarrhea 8
Findings
No curated finding names congenital secretory sodium diarrhea 8 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 SLC9A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014808), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Abdominal distentionHPOHP:0003270
- 7 of 7 reported patients
- Elevated stool chloride contentHPOHP:0034470
- 7 of 7 reported patients
- PolyhydramniosHPOHP:0001561
- 7 of 7 reported patients
- Secretory diarrheaHPOHP:0005208
- 7 of 7 reported patients · Congenital onset
- Dependency on parenteral nutritionHPOHP:0033994
- 6 of 7 reported patients
- Elevated fecal sodiumHPOHP:0032484
- 6 of 7 reported patients
- Reduced fecal osmolalityHPO
Show the remaining 1
- Abnormal circulating sodium concentrationHPOHP:0010931
- 0 of 7 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.
- SLC9A3HGNC:11073
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
9 names
Resolves to: congenital secretory sodium diarrhea 8
- Also called
- congenital secretory sodium diarrhea type 8congenital secretory sodium diarrhoea type 8DIAR8diarrhea 8, secretory sodium, congenitaldiarrhoea 8, secretory sodium, congenitalsecretory diarrhea caused by mutation in SLC9A3secretory diarrhoea caused by mutation in SLC9A3SLC9A3 secretory diarrheaSLC9A3 secretory diarrhoea