Sinoatrial node dysfunction and deafness: genes and variants
Sinoatrial node dysfunction and deafness is linked to 1 analyzed protein (CACNA1D). 2 DNA variants are known to cause it; 27 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 Sinoatrial node dysfunction and deafness
CACNA1D: Voltage-dependent L-type calcium channel subunit alpha-1D
It supports calcium entry in endocrine cells, neurons, and cardiac pacemaker tissue, influencing hormone secretion, neuronal excitability, and sinoatrial activity. Activating variants can cause primary aldosteronism with seizures and neurologic abnormalities, while other variants cause neurodevelopmental or hearing phenotypes.
2 disease-causing and 27 uncertain variants in CACNA1D are linked to Sinoatrial node dysfunction and deafness.
Known disease-causing variants in Sinoatrial node dysfunction and deafness
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CACNA1D G233D | 233 | I | Disease-causing (★) |
| CACNA1D I750F | 750 | II | Disease-causing (★) |
Diseases related to Sinoatrial node dysfunction and deafness
- Epilepsy, also linked to CACNA1D
- Diabetes mellitus, also linked to CACNA1D
- Congenital disorder of glycosylation, type IIw, also linked to CACNA1D
- Myocardial infarction, also linked to CACNA1D
- Aldosterone-producing adenoma with seizures and neurological abnormalities, also linked to CACNA1D
Frequently asked questions
Which genes are linked to Sinoatrial node dysfunction and deafness?
In CATVariant, Sinoatrial node dysfunction and deafness is linked to 1 analyzed protein: CACNA1D (Voltage-dependent L-type calcium channel subunit alpha-1D).
How many genetic variants are linked to Sinoatrial node dysfunction and deafness?
31 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.
Which uncertain variants in Sinoatrial node dysfunction and deafness 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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