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	Hvor ofte den forekommer
Lack of feeling, emotion, interest	Alltid
Memory impairment	Alltid
Temporal cortical atrophy	Alltid
Abnormal social behavior	Svært ofte (80–99 %)
Agitation	Svært ofte (80–99 %)
Confusion	Svært ofte (80–99 %)
Decrease in size of the outer layer of the brain due to loss of brain cells	Svært ofte (80–99 %)
Dementia	Svært ofte (80–99 %)
Epilepsy	Svært ofte (80–99 %)
Hallucinations	Svært ofte (80–99 %)
Jerking	Svært ofte (80–99 %)
Language impairment	Svært ofte (80–99 %)
Neurodevelopmental abnormality	Svært ofte (80–99 %)
Neurofibrillary tangles	Svært ofte (80–99 %)
Parkinsonism	Svært ofte (80–99 %)
Aggressive behavior	Ofte (30–79 %)
Alzheimer disease	Ofte (30–79 %)
Apraxia	Ofte (30–79 %)
Disinhibition	Ofte (30–79 %)
Generalized-onset seizure	Ofte (30–79 %)
Word-finding difficulty	Ofte (30–79 %)
Abnormality of mental function	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Difficulty finding words	Noen ganger (5–29 %)
Dysgraphia	Noen ganger (5–29 %)
Finger agnosia	Noen ganger (5–29 %)
Intellectual disability	Noen ganger (5–29 %)
Trouble remembering words	Noen ganger (5–29 %)
Cognitive impairment	Ikke registrert
Parietal hypometabolism in FDG PET	Ikke registrert
Senile plaques	Ikke registrert
Sleep-wake cycle disturbance	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Left ventricular systolic dysfunction	Svært ofte (80–99 %)
Stretched and thinned heart muscle	Svært ofte (80–99 %)
Abnormal heart rate	Ofte (30–79 %)
Cardiac failure	Ofte (30–79 %)
Fainting spell	Noen ganger (5–29 %)
First degree atrioventricular block	Noen ganger (5–29 %)
Increased left ventricular end-diastolic volume	Noen ganger (5–29 %)
Left bundle branch block	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Noen ganger (5–29 %)
Reduced left ventricular ejection fraction	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Deposits immunoreactive to beta-amyloid protein	Svært ofte (80–99 %)
Spasticity and rigidity of muscles	Svært ofte (80–99 %)
EMG abnormality	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of vision	Noen ganger (5–29 %)
Oculomotor apraxia	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Exertional breathlessness	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Ofte (30–79 %)
Impairment of activities of daily living	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Cerebral amyloid angiopathy	Alltid
Fluid retention	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Thromboembolic stroke	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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