Familial hyperaldosteronism type III: genes and variants
Familial hyperaldosteronism type III is linked to 1 analyzed protein (KCNJ5). 4 DNA variants are known to cause it; 48 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 Familial hyperaldosteronism type III
KCNJ5: G protein-activated inward rectifier potassium channel 4
It contributes to G-protein-activated inward-rectifier potassium current in the heart and endocrine tissues, helping regulate pacemaker activity and membrane potential. Somatic selectivity-altering variants are a common cause of aldosterone-producing adrenal adenomas, while germline variants can cause familial hyperaldosteronism.
4 disease-causing and 48 uncertain variants in KCNJ5 are linked to Familial hyperaldosteronism type III.
Known disease-causing variants in Familial hyperaldosteronism type III
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNJ5 G151R | 151 | Pore-forming | Disease-causing (★★) |
| KCNJ5 T158A | 158 | Extracellular | Disease-causing |
| KCNJ5 E246K | 246 | Cytoplasmic | Disease-causing |
| KCNJ5 I157S | 157 | Extracellular | Disease-causing |
Diseases related to Familial hyperaldosteronism type III
- Long QT syndrome, also linked to KCNJ5
Frequently asked questions
Which genes are linked to Familial hyperaldosteronism type III?
In CATVariant, Familial hyperaldosteronism type III is linked to 1 analyzed protein: KCNJ5 (G protein-activated inward rectifier potassium channel 4).
How many genetic variants are linked to Familial hyperaldosteronism type III?
65 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 48 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial hyperaldosteronism type III 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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