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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

TraitHvor ofte det ses
Premature hardening of arteriesMeget ofte (80–99 %)
Premature plaque build-up in arteriesMeget ofte (80–99 %)
Abnormal left ventricular functionOfte (30–79 %)
Angina pectorisOfte (30–79 %)
Aortic atherosclerotic lesionOfte (30–79 %)
Heart attackOfte (30–79 %)
Heart murmurOfte (30–79 %)
High blood pressureOfte (30–79 %)
Myocardial steatosisOfte (30–79 %)
Narrowing of kidney arteryOfte (30–79 %)
Peripheral arterial stenosisOfte (30–79 %)
Plaque build-up in arteries supplying blood to heartOfte (30–79 %)
Plaque build-up in cerebral arteryOfte (30–79 %)
Premature coronary artery diseaseOfte (30–79 %)
Sudden cardiac deathOfte (30–79 %)
Calcification of the aortaNogle gange (5–29 %)
Mitral regurgitationNogle gange (5–29 %)
Supravalvular aortic stenosisNogle gange (5–29 %)
Coronary artery aneurysmSjældent (1–4%)

Laboratory abnormality

TraitHvor ofte det ses
Decreased circulating cholesterol levelAltid
Decreased circulating high-density lipoprotein cholesterolAltid
Decreased circulating LDL-C concentrationAltid
Elevated circulating alanine aminotransferase concentrationAltid
Elevated circulating aspartate aminotransferase concentrationAltid
Elevated lipids in bloodAltid
Elevated serum cholesterolAltid
Increased circulating LDL levelAltid
Vitamin A deficiencyAltid
Vitamin E deficiencyAltid
Fatty infiltration of liverOfte (30–79 %)

Abnormality of the eye

TraitHvor ofte det ses
Abnormal eye physiologySjældent (1–4%)
Damaged optic nerveSjældent (1–4%)
Corneal arcusIkke registreret
Retina degenerationIkke registreret

Abnormality of the nervous system

TraitHvor ofte det ses
Abnormal nervous system physiologySjældent (1–4%)
AtaxiaIkke registreret
Diminished deep tendon reflexIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Abnormal internal carotid artery morphologyOfte (30–79 %)
Fatty deposits in skin around the eyesIkke registreret

Abnormality of the integument

TraitHvor ofte det ses
Tendon xanthomatosisNogle gange (5–29 %)
Yellow bumps of fatty deposits on skinNogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
AcanthocytosisAltid

Abnormality of the digestive system

TraitHvor ofte det ses
Fat in fecesAltid

Abnormality of the genitourinary system

TraitHvor ofte det ses
Fatty kidneyNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Abnormal shape of tendonOfte (30–79 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Breathing difficultyOfte (30–79 %)

Constitutional symptom

TraitHvor ofte det ses
Joint painNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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