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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

TraitKui sageli seda täheldatakse
Premature hardening of arteriesVäga sageli (80–99%)
Premature plaque build-up in arteriesVäga sageli (80–99%)
Abnormal left ventricular functionSageli (30–79%)
Angina pectorisSageli (30–79%)
Aortic atherosclerotic lesionSageli (30–79%)
Heart attackSageli (30–79%)
Heart murmurSageli (30–79%)
High blood pressureSageli (30–79%)
Myocardial steatosisSageli (30–79%)
Narrowing of kidney arterySageli (30–79%)
Peripheral arterial stenosisSageli (30–79%)
Plaque build-up in arteries supplying blood to heartSageli (30–79%)
Plaque build-up in cerebral arterySageli (30–79%)
Premature coronary artery diseaseSageli (30–79%)
Sudden cardiac deathSageli (30–79%)
Calcification of the aortaMõnikord (5–29%)
Mitral regurgitationMõnikord (5–29%)
Supravalvular aortic stenosisMõnikord (5–29%)
Coronary artery aneurysmHarva (1–4%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Decreased circulating cholesterol levelAlati
Decreased circulating high-density lipoprotein cholesterolAlati
Decreased circulating LDL-C concentrationAlati
Elevated circulating alanine aminotransferase concentrationAlati
Elevated circulating aspartate aminotransferase concentrationAlati
Elevated lipids in bloodAlati
Elevated serum cholesterolAlati
Increased circulating LDL levelAlati
Vitamin A deficiencyAlati
Vitamin E deficiencyAlati
Fatty infiltration of liverSageli (30–79%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Abnormal eye physiologyHarva (1–4%)
Damaged optic nerveHarva (1–4%)
Corneal arcusPole registreeritud
Retina degenerationPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Abnormal nervous system physiologyHarva (1–4%)
AtaxiaPole registreeritud
Diminished deep tendon reflexPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Abnormal internal carotid artery morphologySageli (30–79%)
Fatty deposits in skin around the eyesPole registreeritud

Abnormality of the integument

TraitKui sageli seda täheldatakse
Tendon xanthomatosisMõnikord (5–29%)
Yellow bumps of fatty deposits on skinMõnikord (5–29%)

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
AcanthocytosisAlati

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Fat in fecesAlati

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Fatty kidneyMõnikord (5–29%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Abnormal shape of tendonSageli (30–79%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Breathing difficultySageli (30–79%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Joint painMõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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