Traits

Traits linked to APP

amyloid beta precursor protein

The Human Phenotype Ontology links 50 traits to APP, 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
Abnormal gait	Very often (80–99%)
Abnormal social behavior	Very often (80–99%)
Agitation	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Coma	Very often (80–99%)
Confusion	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Dementia	Very often (80–99%)
Epilepsy	Very often (80–99%)
Febrile seizure (within the age range of 3 months to 6 years)	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Hallucinations	Very often (80–99%)
Headache	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Jerking	Very often (80–99%)
Language impairment	Very often (80–99%)
Memory impairment	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Migraine	Very often (80–99%)
Neurodevelopmental abnormality	Very often (80–99%)
Neurofibrillary tangles	Very often (80–99%)
Parkinsonism	Very often (80–99%)
Pins and needles feeling	Very often (80–99%)
Somatic sensory dysfunction	Very often (80–99%)
Disinhibition	Often (30–79%)
Abnormality of mental function	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Difficulty finding words	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Finger agnosia	Sometimes (5–29%)
Trouble remembering words	Sometimes (5–29%)
Alzheimer disease	Not recorded
Long-tract sign	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Cerebellar hemorrhage	Always
Bleeding in brain	Very often (80–99%)
Recurrent cerebral hemorrhage	Often (30–79%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stroke	Always
Abnormality of the cerebral blood vessels	Very often (80–99%)
Disruption of blood oxygen supply to brain	Not recorded
Twisted cerebral arteries	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Deposits immunoreactive to beta-amyloid protein	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Abnormal deposits of calcium in the brain	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of vision	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Cerebral amyloid angiopathy	Always
Decreased circulating GABA concentration	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)

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

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