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GTR Home > Conditions/Phenotypes > Congenital secretory sodium diarrhea 3

Congenital secretory sodium diarrhea 3

Synonyms
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; Diarrhea 3, secretory sodium, congenital, syndromic

Summary

Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. [from MONDO]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DIAR3, HAI-2, HAI2, Kop, PB, SPINT2
    Summary: serine peptidase inhibitor, Kunitz type 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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