congenital secretory sodium diarrhea 3
Findings
No curated finding names congenital secretory sodium diarrhea 3 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 SPINT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010036), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Secretory diarrheaHPOHP:0005208
- 22 of 22 reported patients
- Choanal atresiaHPOHP:0000453
- 10 of 22 reported patients
- Corneal erosionHPOHP:0200020
- 9 of 22 reported patients
- PolyhydramniosHPOHP:0001561
- 5 of 15 reported patients
- HypertelorismHPOHP:0000316
- 3 of 22 reported patients
- Anal atresiaHPOHP:0002023
- 2 of 16 reported patients
- Cleft palateHPOHP:0000175
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.
- SPINT2HGNC:11247
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: congenital secretory sodium diarrhea 3
- Also called
- congenital secretory sodium diarrhea type 3congenital secretory sodium diarrhoea type 3secretory diarrhea caused by mutation in SPINT2secretory diarrhoea caused by mutation in SPINT2SPINT2 secretory diarrheaSPINT2 secretory diarrhoea