Traits

Traits linked to LDLR

low density lipoprotein receptor

The Human Phenotype Ontology links 35 traits to LDLR, 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
Elevated lipids in blood	Always
Elevated serum cholesterol	Always
Increased circulating LDL level	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

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 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 nervous system

Trait	How often it is seen
Abnormal nervous system physiology	Rarely (1–4%)

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

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