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Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.
Features include always present findings: Secretory diarrhea; and common findings: Polyhydramnios, Choanal atresia, and Corneal erosion. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Abdominal distention, Secretory diarrhea, Intestinal malrotation |
Head and neck | 2 | Cleft palate, Macrocephaly |
Eyes | 2 | Corneal erosion, Optic disc coloboma |
Kidneys and urinary system | 1 | Renal duplication |
SPINT2 function has not been fully characterized.
Congenital secretory sodium diarrhea 3 is associated with mutations in the SPINT2 gene on chromosome 19.
Genetic testing for SPINT2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 3 common features.
No clinical trials have been registered for congenital secretory sodium diarrhea 3.
3 publications have been identified in PubMed for congenital secretory sodium diarrhea 3. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]
Kijmassuwan T (2024). [PMID: 38105403](https://pubmed.ncbi.nlm.nih.gov/38105403/). *Indian J Pediatr*. [Review / Meta-Analysis]
Li Q (2024). [PMID: 38704545](https://pubmed.ncbi.nlm.nih.gov/38704545/). *BMC Pediatr*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center