Traits

Traits linked to PSEN2

presenilin 2

The Human Phenotype Ontology links 58 traits to PSEN2, 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
Temporal cortical atrophy	Always
Abnormal social behavior	Very often (80–99%)
Agitation	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%)
Hallucinations	Very often (80–99%)
Jerking	Very often (80–99%)
Language impairment	Very often (80–99%)
Neurodevelopmental abnormality	Very often (80–99%)
Neurofibrillary tangles	Very often (80–99%)
Parkinsonism	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Alzheimer disease	Often (30–79%)
Apraxia	Often (30–79%)
Disinhibition	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Word-finding difficulty	Often (30–79%)
Abnormality of mental function	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Difficulty finding words	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Finger agnosia	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Trouble remembering words	Sometimes (5–29%)
Cognitive impairment	Not recorded
Parietal hypometabolism in FDG PET	Not recorded
Senile plaques	Not recorded
Sleep-wake cycle disturbance	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular systolic dysfunction	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Fainting spell	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Increased left ventricular end-diastolic volume	Sometimes (5–29%)
Left bundle branch block	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Reduced left ventricular ejection fraction	Sometimes (5–29%)

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%)
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Abnormality of the eye

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

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Constitutional symptom

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

Laboratory abnormality

Trait	How often it is seen
Cerebral amyloid angiopathy	Always
Fluid retention	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

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 PSEN2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test