Liigu sisu juurde
Kasuta oma HSA- või FSA-vahendeid

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

TraitKui sageli seda täheldatakse
Lack of feeling, emotion, interestAlati
Memory impairmentAlati
Temporal cortical atrophyAlati
Abnormal social behaviorVäga sageli (80–99%)
AgitationVäga sageli (80–99%)
ConfusionVäga sageli (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cellsVäga sageli (80–99%)
DementiaVäga sageli (80–99%)
EpilepsyVäga sageli (80–99%)
HallucinationsVäga sageli (80–99%)
JerkingVäga sageli (80–99%)
Language impairmentVäga sageli (80–99%)
Neurodevelopmental abnormalityVäga sageli (80–99%)
Neurofibrillary tanglesVäga sageli (80–99%)
ParkinsonismVäga sageli (80–99%)
Aggressive behaviorSageli (30–79%)
Alzheimer diseaseSageli (30–79%)
ApraxiaSageli (30–79%)
DisinhibitionSageli (30–79%)
Generalized-onset seizureSageli (30–79%)
Word-finding difficultySageli (30–79%)
Abnormality of mental functionMõnikord (5–29%)
AtaxiaMõnikord (5–29%)
Difficulty finding wordsMõnikord (5–29%)
DysgraphiaMõnikord (5–29%)
Finger agnosiaMõnikord (5–29%)
Intellectual disabilityMõnikord (5–29%)
Trouble remembering wordsMõnikord (5–29%)
Cognitive impairmentPole registreeritud
Parietal hypometabolism in FDG PETPole registreeritud
Senile plaquesPole registreeritud
Sleep-wake cycle disturbancePole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Left ventricular systolic dysfunctionVäga sageli (80–99%)
Stretched and thinned heart muscleVäga sageli (80–99%)
Abnormal heart rateSageli (30–79%)
Cardiac failureSageli (30–79%)
Fainting spellMõnikord (5–29%)
First degree atrioventricular blockMõnikord (5–29%)
Increased left ventricular end-diastolic volumeMõnikord (5–29%)
Left bundle branch blockMõnikord (5–29%)
Left ventricular hypertrophyMõnikord (5–29%)
Quivering upper heart chambers resulting in irregular heartbeatMõnikord (5–29%)
Reduced left ventricular ejection fractionMõnikord (5–29%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Deposits immunoreactive to beta-amyloid proteinVäga sageli (80–99%)
Spasticity and rigidity of musclesVäga sageli (80–99%)
EMG abnormalityMõnikord (5–29%)
Loss of fat tissue in localized areaMõnikord (5–29%)
Muscle tissue diseaseMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Abnormality of visionMõnikord (5–29%)
Oculomotor apraxiaMõnikord (5–29%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Exertional breathlessnessSageli (30–79%)
OrthopneaSageli (30–79%)

Constitutional symptom

TraitKui sageli seda täheldatakse
FatigueSageli (30–79%)
Impairment of activities of daily livingSageli (30–79%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Cerebral amyloid angiopathyAlati
Fluid retentionSageli (30–79%)

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Thromboembolic strokeMõnikord (5–29%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentMõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test