Tunnused

Geeniga TREM2 seotud tunnused

triggering receptor expressed on myeloid cells 2

Inimese fenotüübi ontoloogia seostab geeniga TREM2 157 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

TREM2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Decrease in size of the outer layer of the brain due to loss of brain cells	Alati
Dementia	Alati
Lateral ventricle dilatation	Alati
Leukoencephalopathy	Alati
Lou Gehrig's disease	Alati
Abnormal social behavior	Väga sageli (80–99%)
Aggressive behavior	Väga sageli (80–99%)
Agitation	Väga sageli (80–99%)
Behavioral abnormality	Väga sageli (80–99%)
Brain degeneration	Väga sageli (80–99%)
Confusion	Väga sageli (80–99%)
Difficulty finding words	Väga sageli (80–99%)
Difficulty making arithmetical calculations	Väga sageli (80–99%)
Disinhibition	Väga sageli (80–99%)
Dysgraphia	Väga sageli (80–99%)
Echoing another person's speech	Väga sageli (80–99%)
Emotional poverty	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Frontal lobe dementia	Väga sageli (80–99%)
Frontotemporal cerebral atrophy	Väga sageli (80–99%)
Frontotemporal dementia	Väga sageli (80–99%)
Grammar-specific speech disorder	Väga sageli (80–99%)
Hallucinations	Väga sageli (80–99%)
Hyperorality	Väga sageli (80–99%)
Inappropriate behavior	Väga sageli (80–99%)
Irritability	Väga sageli (80–99%)
Jerking	Väga sageli (80–99%)
Lack of insight	Väga sageli (80–99%)
Language impairment	Väga sageli (80–99%)
Loss of developmental milestones	Väga sageli (80–99%)
Loss of speech	Väga sageli (80–99%)
Memory impairment	Väga sageli (80–99%)
Mental deterioration	Väga sageli (80–99%)
Motor neuron atrophy	Väga sageli (80–99%)
Neurodevelopmental abnormality	Väga sageli (80–99%)
Neurofibrillary tangles	Väga sageli (80–99%)
Ongoing loss of nerve cells	Väga sageli (80–99%)
Parkinsonism	Väga sageli (80–99%)
Perseverative thought	Väga sageli (80–99%)
Personality changes	Väga sageli (80–99%)
Poor speech	Väga sageli (80–99%)
Reading disability	Väga sageli (80–99%)
Repetitive movements	Väga sageli (80–99%)
Restlessness	Väga sageli (80–99%)
Restrictive behavior	Väga sageli (80–99%)
Spoken word recognition deficit	Väga sageli (80–99%)
Temporal cortical atrophy	Väga sageli (80–99%)
Underdevelopment of part of brain called corpus callosum	Väga sageli (80–99%)
Ventriculomegaly	Väga sageli (80–99%)
Visual agnosia	Väga sageli (80–99%)
Word-finding difficulty	Väga sageli (80–99%)
Abnormal brain FDG positron emission tomography	Sageli (30–79%)
Abnormal cerebral white matter morphology	Sageli (30–79%)
Abnormal speech pattern	Sageli (30–79%)
Abnormality of movement	Sageli (30–79%)
Abulia	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Apraxia	Sageli (30–79%)
Babinski sign	Sageli (30–79%)
Can't control feelings	Sageli (30–79%)
Caudate atrophy	Sageli (30–79%)
Chorea	Sageli (30–79%)
Cognitive impairment	Sageli (30–79%)
Compulsive hoarding	Sageli (30–79%)
Depression	Sageli (30–79%)
Difficulty articulating speech	Sageli (30–79%)
Disturbed sensory perception	Sageli (30–79%)
EEG with continuous slow activity	Sageli (30–79%)
Hoffmann sign	Sageli (30–79%)
Increased reflexes	Sageli (30–79%)
Muscle twitch	Sageli (30–79%)
Paralysis	Sageli (30–79%)
T2 hypointense thalamus	Sageli (30–79%)
Text blindness	Sageli (30–79%)
Abnormal gait	Mõnikord (5–29%)
Abnormal lower motor neuron morphology	Mõnikord (5–29%)
Abnormality of extrapyramidal motor function	Mõnikord (5–29%)
Abnormality of mental function	Mõnikord (5–29%)
Astrocytosis	Mõnikord (5–29%)
Ataxia	Mõnikord (5–29%)
Difficulty sleeping	Mõnikord (5–29%)
Finger agnosia	Mõnikord (5–29%)
Grand mal seizures	Mõnikord (5–29%)
High stepping	Mõnikord (5–29%)
Inability to speak	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Jaw hyperreflexia	Mõnikord (5–29%)
Lack of feeling, emotion, interest	Mõnikord (5–29%)
Loss of expressive speech	Mõnikord (5–29%)
Psychosis	Mõnikord (5–29%)
Senile plaques	Mõnikord (5–29%)
Too much cerebrospinal fluid in the brain	Mõnikord (5–29%)
Trouble remembering words	Mõnikord (5–29%)
Upper motor neuron dysfunction	Mõnikord (5–29%)
Abnormal shape of upper motor neuron	Pole registreeritud
Alzheimer disease	Pole registreeritud
Axonal loss	Pole registreeritud
Brain neoplasm	Pole registreeritud
CNS demyelination	Pole registreeritud
Degeneration of cerebrum	Pole registreeritud
EEG abnormality	Pole registreeritud
Euphoria	Pole registreeritud
Gliosis	Pole registreeritud
Lewy bodies	Pole registreeritud
Peripheral demyelination	Pole registreeritud
Primitive reflex	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Basal ganglia calcification	Alati
Bone cyst	Alati
Abnormal shape of end part of bone	Väga sageli (80–99%)
Abnormal skeletal development	Väga sageli (80–99%)
Abnormality of adipose tissue	Väga sageli (80–99%)
Bone pain	Väga sageli (80–99%)
Deposits immunoreactive to beta-amyloid protein	Väga sageli (80–99%)
Generalized muscle weakness	Väga sageli (80–99%)
Limitation of joint mobility	Väga sageli (80–99%)
Low solidness and mass of the bones	Väga sageli (80–99%)
Spasticity and rigidity of muscles	Väga sageli (80–99%)
Abnormal deposits of calcium in the brain	Sageli (30–79%)
Distal muscle wasting	Sageli (30–79%)
Fatigable weakness of bulbar muscles	Sageli (30–79%)
Fatigable weakness of respiratory muscles	Sageli (30–79%)
Fatigable weakness of swallowing muscles	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Muscle spasm	Sageli (30–79%)
Progressive distal muscular atrophy	Sageli (30–79%)
Spastic paraparesis	Mõnikord (5–29%)
Osteopenia	Pole registreeritud
Spontaneous fracture	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Thickened skin folds of neck	Väga sageli (80–99%)
Decreased salivary flow	Sageli (30–79%)
Drooling	Sageli (30–79%)
Wasting of the tongue	Sageli (30–79%)
Tongue twitching	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Decreased arm strength	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Foot drop	Mõnikord (5–29%)
Abnormal feet structure	Pole registreeritud
Abnormality of the hand	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality on pulmonary function testing	Sageli (30–79%)
Breathing difficulty	Sageli (30–79%)
Respiratory failure	Sageli (30–79%)
Orthopnea	Mõnikord (5–29%)
Laryngospasm	Harva (1–4%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Väga sageli (80–99%)
Fatigue	Sageli (30–79%)
Pain	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Poor swallowing	Sageli (30–79%)
Functional abnormality of the gastrointestinal tract	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Oculomotor apraxia	Sageli (30–79%)
Abnormality of vision	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Weight loss	Sageli (30–79%)
Wasting syndrome	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Acute blood cancer	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Stroke	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Loss of bladder control	Pole registreeritud

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Inability to produce voice sounds	Sageli (30–79%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TREM2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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