Tunnused

Geeniga MAPT seotud tunnused

microtubule associated protein tau

Inimese fenotüübi ontoloogia seostab geeniga MAPT 150 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormality of balance	Alati
Akinesia	Alati
Astrocytosis	Alati
Balance impairment	Alati
Degeneration of cerebrum	Alati
Difficulty articulating speech	Alati
Falls	Alati
Freezing of gait	Alati
Micrographia	Alati
Neurofibrillary tangles	Alati
Senile plaques	Alati
Slow movements	Alati
Abnormal pyramidal sign	Väga sageli (80–99%)
Abnormal speech pattern	Väga sageli (80–99%)
Aggressive behavior	Väga sageli (80–99%)
Apraxia	Väga sageli (80–99%)
Behavioral abnormality	Väga sageli (80–99%)
Brain degeneration	Väga sageli (80–99%)
Deficit in phonologic short-term memory	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%)
Focal dystonia	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%)
Hyperorality	Väga sageli (80–99%)
Inappropriate behavior	Väga sageli (80–99%)
Irritability	Väga sageli (80–99%)
Lack of insight	Väga sageli (80–99%)
Limb apraxia	Väga sageli (80–99%)
Loss of speech	Väga sageli (80–99%)
Lou Gehrig's disease	Väga sageli (80–99%)
Memory impairment	Väga sageli (80–99%)
Mental deterioration	Väga sageli (80–99%)
Parkinsonism with favorable response to dopaminergic medication	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%)
Speech apraxia	Väga sageli (80–99%)
Spoken word recognition deficit	Väga sageli (80–99%)
Stuttering	Väga sageli (80–99%)
Temporal cortical atrophy	Väga sageli (80–99%)
Unsteady walk	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 prosody	Sageli (30–79%)
Abulia	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Axial dystonia	Sageli (30–79%)
Compulsive hoarding	Sageli (30–79%)
Dementia	Sageli (30–79%)
Depression	Sageli (30–79%)
Diminished movement	Sageli (30–79%)
Dystonia	Sageli (30–79%)
EEG with continuous slow activity	Sageli (30–79%)
Impulsivity	Sageli (30–79%)
Involuntary movements	Sageli (30–79%)
Lack of feeling, emotion, interest	Sageli (30–79%)
Limb myoclonus	Sageli (30–79%)
Palilalia	Sageli (30–79%)
Parkinsonism	Sageli (30–79%)
Slowed slurred speech	Sageli (30–79%)
Somatic sensory dysfunction	Sageli (30–79%)
Speech articulation difficulties	Sageli (30–79%)
Tachylalia	Sageli (30–79%)
Text blindness	Sageli (30–79%)
Tremor	Sageli (30–79%)
Abnormal autonomic nervous system physiology	Mõnikord (5–29%)
Abnormal gait	Mõnikord (5–29%)
Abnormal lower motor neuron morphology	Mõnikord (5–29%)
Abnormality of extrapyramidal motor function	Mõnikord (5–29%)
Clumsiness	Mõnikord (5–29%)
Grand mal seizures	Mõnikord (5–29%)
Hallucinations	Mõnikord (5–29%)
Head jerking	Mõnikord (5–29%)
Impaired visuospatial constructive cognition	Mõnikord (5–29%)
Inability to speak	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Loss of ability to walk	Mõnikord (5–29%)
Loss of expressive speech	Mõnikord (5–29%)
Muscle twitch	Mõnikord (5–29%)
Psychosis	Mõnikord (5–29%)
Short stepped shuffling walk	Mõnikord (5–29%)
Social and occupational deterioration	Mõnikord (5–29%)
Upper motor neuron dysfunction	Mõnikord (5–29%)
Abnormal pyramidal tract morphology	Pole registreeritud
Brain neoplasm	Pole registreeritud
Difficulty sleeping	Pole registreeritud
Diminished motivation	Pole registreeritud
Frontal lobe dementia	Pole registreeritud
Frontal release signs	Pole registreeritud
Frontolimbic dementia	Pole registreeritud
Gliosis	Pole registreeritud
Granulovacuolar degeneration	Pole registreeritud
Inappropriate laughter	Pole registreeritud
Inappropriate sexual behavior	Pole registreeritud
Increased appetite	Pole registreeritud
Language impairment	Pole registreeritud
Lewy bodies	Pole registreeritud
Limb dystonia	Pole registreeritud
Loss of brain cells	Pole registreeritud
Neuronal loss in basal ganglia	Pole registreeritud
Primitive reflex	Pole registreeritud
Resting tremor	Pole registreeritud
Substantia nigra gliosis	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal saccadic eye movements	Väga sageli (80–99%)
Slow eye movements	Väga sageli (80–99%)
Vertical supranuclear gaze palsy	Väga sageli (80–99%)
Abnormality of eye movement	Sageli (30–79%)
Blurred vision	Sageli (30–79%)
Decreased tear secretion	Sageli (30–79%)
Extreme sensitivity of the eyes to light	Sageli (30–79%)
Slowed horizontal saccades	Sageli (30–79%)
Supranuclear gaze palsy	Sageli (30–79%)
Hypometric saccades	Harva (1–4%)
Oculomotor apraxia	Harva (1–4%)
Double vision	Pole registreeritud
Weakness of muscles controlling eye movement	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Thickened skin folds of neck	Väga sageli (80–99%)
Conjunctival hyperemia	Sageli (30–79%)
Eyelid spasm	Sageli (30–79%)
Fixed facial expression	Sageli (30–79%)
Difficulty opening the eyelids	Pole registreeritud
Expressionless face	Pole registreeritud
Retrocollis	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Rigidity	Alati
Axial muscle stiffness	Sageli (30–79%)
Frequent falls	Sageli (30–79%)
Progressive extrapyramidal muscular rigidity	Sageli (30–79%)
Spastic dysarthria	Sageli (30–79%)
Kyphoscoliosis	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Poor swallowing	Alati
Neuromuscular dysphagia	Mõnikord (5–29%)
Constipation	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Hand clenching	Sageli (30–79%)
Distal lower limb muscle weakness	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
Urinary urgency	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Weak voice	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 MAPT seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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