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	Cât de frecvent apare
Lack of feeling, emotion, interest	Întotdeauna
Memory impairment	Întotdeauna
Temporal cortical atrophy	Întotdeauna
Abnormal social behavior	Foarte des (80–99%)
Agitation	Foarte des (80–99%)
Confusion	Foarte des (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Foarte des (80–99%)
Dementia	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Hallucinations	Foarte des (80–99%)
Jerking	Foarte des (80–99%)
Language impairment	Foarte des (80–99%)
Neurodevelopmental abnormality	Foarte des (80–99%)
Neurofibrillary tangles	Foarte des (80–99%)
Parkinsonism	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Alzheimer disease	Des (30–79%)
Apraxia	Des (30–79%)
Disinhibition	Des (30–79%)
Generalized-onset seizure	Des (30–79%)
Word-finding difficulty	Des (30–79%)
Abnormality of mental function	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Difficulty finding words	Uneori (5–29%)
Dysgraphia	Uneori (5–29%)
Finger agnosia	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Trouble remembering words	Uneori (5–29%)
Cognitive impairment	Neînregistrat
Parietal hypometabolism in FDG PET	Neînregistrat
Senile plaques	Neînregistrat
Sleep-wake cycle disturbance	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Left ventricular systolic dysfunction	Foarte des (80–99%)
Stretched and thinned heart muscle	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Cardiac failure	Des (30–79%)
Fainting spell	Uneori (5–29%)
First degree atrioventricular block	Uneori (5–29%)
Increased left ventricular end-diastolic volume	Uneori (5–29%)
Left bundle branch block	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Uneori (5–29%)
Reduced left ventricular ejection fraction	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Deposits immunoreactive to beta-amyloid protein	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
EMG abnormality	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormality of vision	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Orthopnea	Des (30–79%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Des (30–79%)
Impairment of activities of daily living	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Cerebral amyloid angiopathy	Întotdeauna
Fluid retention	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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.

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