Traits

Traits linked to APOE

apolipoprotein E

The Human Phenotype Ontology links 81 traits to APOE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Lack of feeling, emotion, interest	Always
Memory impairment	Always
Neurofibrillary tangles	Always
Temporal cortical atrophy	Always
Aggressive behavior	Often (30–79%)
Alzheimer disease	Often (30–79%)
Apraxia	Often (30–79%)
Confusion	Often (30–79%)
Dementia	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Jerking	Often (30–79%)
Word-finding difficulty	Often (30–79%)
Disturbed sensory perception	Sometimes (5–29%)
Abnormal gait	Not recorded
Abnormality of extrapyramidal motor function	Not recorded
Babinski sign	Not recorded
Cognitive impairment	Not recorded
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Difficulty articulating speech	Not recorded
Dystonia	Not recorded
Epilepsy	Not recorded
Long-tract sign	Not recorded
Optic ataxia	Not recorded
Overactive lower leg reflex	Not recorded
Parietal hypometabolism in FDG PET	Not recorded
Parkinsonism	Not recorded
Personality changes	Not recorded
Senile plaques	Not recorded
Sleep-wake cycle disturbance	Not recorded

Laboratory abnormality

Trait	How often it is seen
Cerebral amyloid angiopathy	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Decreased circulating high-density lipoprotein cholesterol	Very often (80–99%)
Elevated serum cholesterol	Very often (80–99%)
Increased circulating LDL level	Very often (80–99%)
Increased plasma triglycerides	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
Fatty infiltration of liver	Often (30–79%)
Elevated circulating VLDL-C concentration	Not recorded
High urine protein levels	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Foam cells	Always
Increased spleen size	Always
Lipemia retinalis	Often (30–79%)
Type IV atherosclerotic lesion	Often (30–79%)
Accelerated plaque build-up in arteries	Sometimes (5–29%)
Angina pectoris	Sometimes (5–29%)
Aortic atherosclerotic lesion	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Premature coronary artery disease	Sometimes (5–29%)
Premature plaque build-up in arteries	Not recorded

Abnormality of the eye

Trait	How often it is seen
Macular drusen	Always
Macular degeneration	Very often (80–99%)
Corneal arcus	Often (30–79%)
Macular geographic atrophy	Often (30–79%)
Choroidal neovascularization	Rarely (1–4%)
Foveal hypopigmentation	Not recorded
Progressive loss of vision	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormality of the skin	Very often (80–99%)
Eruptive xanthomas	Often (30–79%)
Tendon xanthomatosis	Often (30–79%)
Tuberous xanthoma	Often (30–79%)
Xanthomas of the palmar creases	Often (30–79%)
Absent axillary hair	Not recorded
Yellow bumps of fatty deposits on skin	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Acute pancreatic inflammation	Sometimes (5–29%)
Poor swallowing	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Fatty kidney	Sometimes (5–29%)
Glomerulopathy	Not recorded
Mesangial hypercellularity	Not recorded
Renal failure	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Always
Sea-blue histiocytosis	Always
Macular hemorrhage	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Gout	Sometimes (5–29%)
Spastic tetraparesis	Not recorded

Abnormality of head or neck

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

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Impairment of activities of daily living	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)

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

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