Trăsături

Trăsături asociate cu MAPT

microtubule associated protein tau

Human Phenotype Ontology asociază 150 trăsături cu MAPT, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormality of balance	Întotdeauna
Akinesia	Întotdeauna
Astrocytosis	Întotdeauna
Balance impairment	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Difficulty articulating speech	Întotdeauna
Falls	Întotdeauna
Freezing of gait	Întotdeauna
Micrographia	Întotdeauna
Neurofibrillary tangles	Întotdeauna
Senile plaques	Întotdeauna
Slow movements	Întotdeauna
Abnormal pyramidal sign	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Aggressive behavior	Foarte des (80–99%)
Apraxia	Foarte des (80–99%)
Behavioral abnormality	Foarte des (80–99%)
Brain degeneration	Foarte des (80–99%)
Deficit in phonologic short-term memory	Foarte des (80–99%)
Difficulty finding words	Foarte des (80–99%)
Difficulty making arithmetical calculations	Foarte des (80–99%)
Disinhibition	Foarte des (80–99%)
Dysgraphia	Foarte des (80–99%)
Echoing another person's speech	Foarte des (80–99%)
Emotional poverty	Foarte des (80–99%)
Focal dystonia	Foarte des (80–99%)
Frontotemporal cerebral atrophy	Foarte des (80–99%)
Frontotemporal dementia	Foarte des (80–99%)
Grammar-specific speech disorder	Foarte des (80–99%)
Hyperorality	Foarte des (80–99%)
Inappropriate behavior	Foarte des (80–99%)
Irritability	Foarte des (80–99%)
Lack of insight	Foarte des (80–99%)
Limb apraxia	Foarte des (80–99%)
Loss of speech	Foarte des (80–99%)
Lou Gehrig's disease	Foarte des (80–99%)
Memory impairment	Foarte des (80–99%)
Mental deterioration	Foarte des (80–99%)
Parkinsonism with favorable response to dopaminergic medication	Foarte des (80–99%)
Perseverative thought	Foarte des (80–99%)
Personality changes	Foarte des (80–99%)
Poor speech	Foarte des (80–99%)
Reading disability	Foarte des (80–99%)
Repetitive movements	Foarte des (80–99%)
Restlessness	Foarte des (80–99%)
Restrictive behavior	Foarte des (80–99%)
Speech apraxia	Foarte des (80–99%)
Spoken word recognition deficit	Foarte des (80–99%)
Stuttering	Foarte des (80–99%)
Temporal cortical atrophy	Foarte des (80–99%)
Unsteady walk	Foarte des (80–99%)
Visual agnosia	Foarte des (80–99%)
Word-finding difficulty	Foarte des (80–99%)
Abnormal brain FDG positron emission tomography	Des (30–79%)
Abnormal cerebral white matter morphology	Des (30–79%)
Abnormal prosody	Des (30–79%)
Abulia	Des (30–79%)
Anxiety	Des (30–79%)
Axial dystonia	Des (30–79%)
Compulsive hoarding	Des (30–79%)
Dementia	Des (30–79%)
Depression	Des (30–79%)
Diminished movement	Des (30–79%)
Dystonia	Des (30–79%)
EEG with continuous slow activity	Des (30–79%)
Impulsivity	Des (30–79%)
Involuntary movements	Des (30–79%)
Lack of feeling, emotion, interest	Des (30–79%)
Limb myoclonus	Des (30–79%)
Palilalia	Des (30–79%)
Parkinsonism	Des (30–79%)
Slowed slurred speech	Des (30–79%)
Somatic sensory dysfunction	Des (30–79%)
Speech articulation difficulties	Des (30–79%)
Tachylalia	Des (30–79%)
Text blindness	Des (30–79%)
Tremor	Des (30–79%)
Abnormal autonomic nervous system physiology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal lower motor neuron morphology	Uneori (5–29%)
Abnormality of extrapyramidal motor function	Uneori (5–29%)
Clumsiness	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Hallucinations	Uneori (5–29%)
Head jerking	Uneori (5–29%)
Impaired visuospatial constructive cognition	Uneori (5–29%)
Inability to speak	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Loss of ability to walk	Uneori (5–29%)
Loss of expressive speech	Uneori (5–29%)
Muscle twitch	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Short stepped shuffling walk	Uneori (5–29%)
Social and occupational deterioration	Uneori (5–29%)
Upper motor neuron dysfunction	Uneori (5–29%)
Abnormal pyramidal tract morphology	Neînregistrat
Brain neoplasm	Neînregistrat
Difficulty sleeping	Neînregistrat
Diminished motivation	Neînregistrat
Frontal lobe dementia	Neînregistrat
Frontal release signs	Neînregistrat
Frontolimbic dementia	Neînregistrat
Gliosis	Neînregistrat
Granulovacuolar degeneration	Neînregistrat
Inappropriate laughter	Neînregistrat
Inappropriate sexual behavior	Neînregistrat
Increased appetite	Neînregistrat
Language impairment	Neînregistrat
Lewy bodies	Neînregistrat
Limb dystonia	Neînregistrat
Loss of brain cells	Neînregistrat
Neuronal loss in basal ganglia	Neînregistrat
Primitive reflex	Neînregistrat
Resting tremor	Neînregistrat
Substantia nigra gliosis	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal saccadic eye movements	Foarte des (80–99%)
Slow eye movements	Foarte des (80–99%)
Vertical supranuclear gaze palsy	Foarte des (80–99%)
Abnormality of eye movement	Des (30–79%)
Blurred vision	Des (30–79%)
Decreased tear secretion	Des (30–79%)
Extreme sensitivity of the eyes to light	Des (30–79%)
Slowed horizontal saccades	Des (30–79%)
Supranuclear gaze palsy	Des (30–79%)
Hypometric saccades	Rar (1–4%)
Oculomotor apraxia	Rar (1–4%)
Double vision	Neînregistrat
Weakness of muscles controlling eye movement	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Thickened skin folds of neck	Foarte des (80–99%)
Conjunctival hyperemia	Des (30–79%)
Eyelid spasm	Des (30–79%)
Fixed facial expression	Des (30–79%)
Difficulty opening the eyelids	Neînregistrat
Expressionless face	Neînregistrat
Retrocollis	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Rigidity	Întotdeauna
Axial muscle stiffness	Des (30–79%)
Frequent falls	Des (30–79%)
Progressive extrapyramidal muscular rigidity	Des (30–79%)
Spastic dysarthria	Des (30–79%)
Kyphoscoliosis	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Întotdeauna
Neuromuscular dysphagia	Uneori (5–29%)
Constipation	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hand clenching	Des (30–79%)
Distal lower limb muscle weakness	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Stroke	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Urinary urgency	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak voice	Des (30–79%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MAPT și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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