CACNA1D encodes calcium voltage-gated channel subunit alpha1 D (2,161 aa). Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Highest expression in Pituitary (11.1 TPM) and Lung (8.7 TPM).

Aldosterone-producing adenoma with seizures and neurological abnormalities is associated with mutations in the CACNA1D gene on chromosome 3.

The CACNA1D protein participates in CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell pathway.

CACNA1D is classified as a druggable target (Clinically Actionable, Druggable Genome, and Ion Channel categories) with score 1.2.

Genetic testing for CACNA1D is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for aldosterone-producing adenoma with seizures and neurological abnormalities.

1 publication has been identified in PubMed for aldosterone-producing adenoma with seizures and neurological abnormalities. Research spans Case Report / Case Series (100%).

Recent Publications

• Hu X (2025). [PMID: 40702712](https://pubmed.ncbi.nlm.nih.gov/40702712/). *Am J Case Rep*. [Case Report / Case Series]