congenital secretory sodium diarrhea 8

Summary
Synonym
  • DIAR8
Definition
A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.
Super Class
autosomal recessive disease physical disorder secretory diarrhea
Disease Ontology
DOID:0060777
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6550 SLC9A3 solute carrier family 9 member A3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48764 Sodium/hydrogen exchanger 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025