Traits

Traits linked to APOA1

apolipoprotein A1

The Human Phenotype Ontology links 38 traits to APOA1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Amyloid deposition	Always
Cardiac amyloidosis	Always
Cutaneous amyloidosis	Always
Decreased circulating apolipoprotein A-I concentration	Always
Decreased circulating high-density lipoprotein cholesterol	Always
Elevated alkaline phosphatase	Always
Generalized amyloid deposition	Always
Hepatic amyloidosis	Always
High urine protein levels	Always
Renal amyloidosis	Always
Small amount of blood in urine	Always
Abnormal circulating lipid concentration	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Brain aneurysm	Always
Cardiac failure	Always
Enlarged heart	Always
High blood pressure	Always
Narrowing and hardening of arteries	Very often (80–99%)
Angina pectoris	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Premature coronary artery disease	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Opacification of the corneal stroma	Very often (80–99%)
Blurred vision	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Corneal arcus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Enlarged liver	Always
Liver failure	Always

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Always
Yellow bumps of fatty deposits on skin	Often (30–79%)
Tendon xanthomatosis	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always
Low platelet count	Always

Abnormality of head or neck

Trait	How often it is seen
Conjunctival amyloidosis	Always
Fatty deposits in skin around the eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Infertility	Always
Stage 5 chronic kidney disease	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Always

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Always

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 APOA1 and how often each is seen. Find out more at hpo.jax.org.

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