Congenital secretory sodium diarrhea 8: genes and variants
Congenital secretory sodium diarrhea 8 is linked to 1 analyzed protein (SLC9A3). 3 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Congenital secretory sodium diarrhea 8
SLC9A3: Sodium/hydrogen exchanger 3
It exchanges luminal sodium for intracellular protons in intestinal and renal epithelia, supporting salt absorption and acid-base balance. Biallelic loss-of-function variants cause congenital sodium diarrhea with severe neonatal salt and fluid loss.
3 disease-causing and 9 uncertain variants in SLC9A3 are linked to Congenital secretory sodium diarrhea 8.
Known disease-causing variants in Congenital secretory sodium diarrhea 8
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC9A3 S217L | 217 | Transmembrane | Disease-causing (★) |
| SLC9A3 R382Q | 382 | Transmembrane | Disease-causing (★) |
| SLC9A3 A311V | 311 | Transmembrane | Disease-causing |
Frequently asked questions
Which genes are linked to Congenital secretory sodium diarrhea 8?
In CATVariant, Congenital secretory sodium diarrhea 8 is linked to 1 analyzed protein: SLC9A3 (Sodium/hydrogen exchanger 3).
How many genetic variants are linked to Congenital secretory sodium diarrhea 8?
14 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital secretory sodium diarrhea 8 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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