Traits

Traits linked to CACNA1D

calcium voltage-gated channel subunit alpha1 D

The Human Phenotype Ontology links 43 traits to CACNA1D, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Cerebral palsy	Always
Global developmental delay	Always
Epilepsy	Very often (80–99%)
Extreme thirst	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Focal myoclonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Involuntary writhing movements in fingers, hands, toes, and feet	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Headache	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Always
Increased heart rate variability	Always
Slow heartbeats	Always
Ventricular hypertrophy	Very often (80–99%)
Biventricular hypertrophy	Often (30–79%)
Fainting spell	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Left ventricular hypertrophy	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Second degree atrioventricular block	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating renin	Always
Decreased circulating renin concentration	Always
Elevated plasma aldosterone	Always
Primary hyperaldosteronism	Often (30–79%)
Enlarged adrenal glands	Rarely (1–4%)
Dexamethasone-suppressible primary hyperaldosteronism	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: impaired neuromuscular transmission	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Spastic paraplegia	Often (30–79%)
Spastic tetraplegia	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding within the skull	Sometimes (5–29%)
Bloody nose	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Ringing in ears	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low blood potassium levels	Always
Metabolic alkalosis	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Nausea	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CACNA1D and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test