Požymiai

Su TREM2 susiję požymiai

triggering receptor expressed on myeloid cells 2

Žmogaus fenotipo ontologija sieja 157 požymių su TREM2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Basal ganglia calcification	Visada
Bone cyst	Visada
Abnormal shape of end part of bone	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormality of adipose tissue	Labai dažnai (80–99%)
Bone pain	Labai dažnai (80–99%)
Deposits immunoreactive to beta-amyloid protein	Labai dažnai (80–99%)
Generalized muscle weakness	Labai dažnai (80–99%)
Limitation of joint mobility	Labai dažnai (80–99%)
Low solidness and mass of the bones	Labai dažnai (80–99%)
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Abnormal deposits of calcium in the brain	Dažnai (30–79%)
Distal muscle wasting	Dažnai (30–79%)
Fatigable weakness of bulbar muscles	Dažnai (30–79%)
Fatigable weakness of respiratory muscles	Dažnai (30–79%)
Fatigable weakness of swallowing muscles	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle spasm	Dažnai (30–79%)
Progressive distal muscular atrophy	Dažnai (30–79%)
Spastic paraparesis	Kartais (5–29%)
Osteopenia	Neužfiksuota
Spontaneous fracture	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Thickened skin folds of neck	Labai dažnai (80–99%)
Decreased salivary flow	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Wasting of the tongue	Dažnai (30–79%)
Tongue twitching	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Decreased arm strength	Dažnai (30–79%)
Lower limb muscle weakness	Dažnai (30–79%)
Foot drop	Kartais (5–29%)
Abnormal feet structure	Neužfiksuota
Abnormality of the hand	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality on pulmonary function testing	Dažnai (30–79%)
Breathing difficulty	Dažnai (30–79%)
Respiratory failure	Dažnai (30–79%)
Orthopnea	Kartais (5–29%)
Laryngospasm	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Labai dažnai (80–99%)
Fatigue	Dažnai (30–79%)
Pain	Dažnai (30–79%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Poor swallowing	Dažnai (30–79%)
Functional abnormality of the gastrointestinal tract	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Oculomotor apraxia	Dažnai (30–79%)
Abnormality of vision	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Weight loss	Dažnai (30–79%)
Wasting syndrome	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Acute blood cancer	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Stroke	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Loss of bladder control	Neužfiksuota

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TREM2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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