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	Hvor ofte den forekommer
Premature hardening of arteries	Svært ofte (80–99 %)
Premature plaque build-up in arteries	Svært ofte (80–99 %)
Abnormal left ventricular function	Ofte (30–79 %)
Angina pectoris	Ofte (30–79 %)
Aortic atherosclerotic lesion	Ofte (30–79 %)
Heart attack	Ofte (30–79 %)
Heart murmur	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Myocardial steatosis	Ofte (30–79 %)
Narrowing of kidney artery	Ofte (30–79 %)
Peripheral arterial stenosis	Ofte (30–79 %)
Plaque build-up in arteries supplying blood to heart	Ofte (30–79 %)
Plaque build-up in cerebral artery	Ofte (30–79 %)
Premature coronary artery disease	Ofte (30–79 %)
Sudden cardiac death	Ofte (30–79 %)
Calcification of the aorta	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Supravalvular aortic stenosis	Noen ganger (5–29 %)
Coronary artery aneurysm	Sjelden (1–4%)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated lipids in blood	Alltid
Elevated serum cholesterol	Alltid
Increased circulating LDL level	Alltid
Fatty infiltration of liver	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormal eye physiology	Sjelden (1–4%)
Damaged optic nerve	Sjelden (1–4%)
Corneal arcus	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormal internal carotid artery morphology	Ofte (30–79 %)
Fatty deposits in skin around the eyes	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Tendon xanthomatosis	Noen ganger (5–29 %)
Yellow bumps of fatty deposits on skin	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Fatty kidney	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Abnormal shape of tendon	Ofte (30–79 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Abnormal nervous system physiology	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulty	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Joint pain	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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