Traits

Traits linked to ABCA1

ATP binding cassette subfamily A member 1

The Human Phenotype Ontology links 44 traits to ABCA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing and hardening of arteries	Very often (80–99%)
Accelerated plaque build-up in arteries	Often (30–79%)
Angina pectoris	Often (30–79%)
Chronic noninfectious lymphadenopathy	Often (30–79%)
Enlarged liver and spleen	Often (30–79%)
Narrowing of coronary artery	Often (30–79%)
Orange discolored tonsils	Often (30–79%)
Premature coronary artery disease	Often (30–79%)
Left ventricular hypertrophy	Sometimes (5–29%)
Narrowing of carotid artery	Sometimes (5–29%)
Heart attack	Not recorded
Increased spleen size	Not recorded
Plaque build-up in arteries supplying blood to heart	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Peripheral axonal neuropathy	Often (30–79%)
Progressive peripheral neuropathy	Often (30–79%)
Fluid-filled cyst in spinal cord	Sometimes (5–29%)
Impaired temperature sensation	Sometimes (5–29%)
Decreased reflex response	Not recorded
Impaired pain sensation	Not recorded
Peripheral demyelination	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating lipid concentration	Very often (80–99%)
Decreased circulating cholesterol level	Very often (80–99%)
Decreased circulating high-density lipoprotein cholesterol	Very often (80–99%)
Increased plasma triglycerides	Very often (80–99%)
Decreased circulating apolipoprotein A-I concentration	Not recorded
Elevated circulating apolipoprotein A-II concentration	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Everted eyelid	Often (30–79%)
Fatty deposits in skin around the eyes	Often (30–79%)
Facial diplegia	Sometimes (5–29%)
Cicatricial ectropion	Not recorded

Abnormality of the eye

Trait	How often it is seen
Opacification of the corneal stroma	Very often (80–99%)
Blurred vision	Often (30–79%)
Corneal opacity	Sometimes (5–29%)
Visual impairment	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)
Poor nail formation	Often (30–79%)
Yellow bumps of fatty deposits on skin	Often (30–79%)
Atypical nail growth	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Enlarged liver	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weakness of outermost muscles	Often (30–79%)
Distal muscle wasting	Not recorded

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 ABCA1 and how often each is seen. Find out more at hpo.jax.org.

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