Previous symbols: CCHL1A2, CACNL1A2. Aliases: Cav1.3, CACH3, CACN4.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Adrenal Cortex Adenoma | somatic driver somatic |
mechanism: Zona Glomerulosa Ion Channel and Pump Driver Mutation
subtype: Aldosterone-Producing
scoped to subtype: Aldosterone-Producing
|
| Advanced Sleep Phase Syndrome | causative |
mechanism: Autosomal Dominant Circadian-Regulatory Gene Variant; CACNA1D Channel-Dynamics Alteration
|
| Primary Aldosteronism | somatic driver somatic |
mechanism: Somatic Gain-of-Function Mutation in a Zona Glomerulosa Ion Channel or Pump
subtype: APA
scoped to subtype: APA
|
| Sinoatrial Node Dysfunction and Deafness | causativeunknown |
mechanism: Biallelic CACNA1D Loss of Function
|
| familial hyperaldosteronism | no genetic record |
subtype: PASNA
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| sinoatrial node dysfunction and deafness MONDO:0013960 | AR | Moderate 2024-04-17 |
Sinoatrial Node Dysfunction and Deafness
causative and unknown
|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2024-09-04 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.