Traits

Traits linked to APOB

apolipoprotein B

The Human Phenotype Ontology links 47 traits to APOB, 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
Premature hardening of arteries	Very often (80–99%)
Premature plaque build-up in arteries	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Angina pectoris	Often (30–79%)
Aortic atherosclerotic lesion	Often (30–79%)
Heart attack	Often (30–79%)
Heart murmur	Often (30–79%)
High blood pressure	Often (30–79%)
Myocardial steatosis	Often (30–79%)
Narrowing of kidney artery	Often (30–79%)
Peripheral arterial stenosis	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Plaque build-up in cerebral artery	Often (30–79%)
Premature coronary artery disease	Often (30–79%)
Sudden cardiac death	Often (30–79%)
Calcification of the aorta	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Supravalvular aortic stenosis	Sometimes (5–29%)
Coronary artery aneurysm	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating cholesterol level	Always
Decreased circulating high-density lipoprotein cholesterol	Always
Decreased circulating LDL-C concentration	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated lipids in blood	Always
Elevated serum cholesterol	Always
Increased circulating LDL level	Always
Vitamin A deficiency	Always
Vitamin E deficiency	Always
Fatty infiltration of liver	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormal eye physiology	Rarely (1–4%)
Damaged optic nerve	Rarely (1–4%)
Corneal arcus	Not recorded
Retina degeneration	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal nervous system physiology	Rarely (1–4%)
Ataxia	Not recorded
Diminished deep tendon reflex	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal internal carotid artery morphology	Often (30–79%)
Fatty deposits in skin around the eyes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Tendon xanthomatosis	Sometimes (5–29%)
Yellow bumps of fatty deposits on skin	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acanthocytosis	Always

Abnormality of the digestive system

Trait	How often it is seen
Fat in feces	Always

Abnormality of the genitourinary system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of tendon	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)

Constitutional symptom

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

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

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