Traits

Traits linked to MAPT

microtubule associated protein tau

The Human Phenotype Ontology links 150 traits to MAPT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of balance	Always
Akinesia	Always
Astrocytosis	Always
Balance impairment	Always
Degeneration of cerebrum	Always
Difficulty articulating speech	Always
Falls	Always
Freezing of gait	Always
Micrographia	Always
Neurofibrillary tangles	Always
Senile plaques	Always
Slow movements	Always
Abnormal pyramidal sign	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Aggressive behavior	Very often (80–99%)
Apraxia	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Brain degeneration	Very often (80–99%)
Deficit in phonologic short-term memory	Very often (80–99%)
Difficulty finding words	Very often (80–99%)
Difficulty making arithmetical calculations	Very often (80–99%)
Disinhibition	Very often (80–99%)
Dysgraphia	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Emotional poverty	Very often (80–99%)
Focal dystonia	Very often (80–99%)
Frontotemporal cerebral atrophy	Very often (80–99%)
Frontotemporal dementia	Very often (80–99%)
Grammar-specific speech disorder	Very often (80–99%)
Hyperorality	Very often (80–99%)
Inappropriate behavior	Very often (80–99%)
Irritability	Very often (80–99%)
Lack of insight	Very often (80–99%)
Limb apraxia	Very often (80–99%)
Loss of speech	Very often (80–99%)
Lou Gehrig's disease	Very often (80–99%)
Memory impairment	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Parkinsonism with favorable response to dopaminergic medication	Very often (80–99%)
Perseverative thought	Very often (80–99%)
Personality changes	Very often (80–99%)
Poor speech	Very often (80–99%)
Reading disability	Very often (80–99%)
Repetitive movements	Very often (80–99%)
Restlessness	Very often (80–99%)
Restrictive behavior	Very often (80–99%)
Speech apraxia	Very often (80–99%)
Spoken word recognition deficit	Very often (80–99%)
Stuttering	Very often (80–99%)
Temporal cortical atrophy	Very often (80–99%)
Unsteady walk	Very often (80–99%)
Visual agnosia	Very often (80–99%)
Word-finding difficulty	Very often (80–99%)
Abnormal brain FDG positron emission tomography	Often (30–79%)
Abnormal cerebral white matter morphology	Often (30–79%)
Abnormal prosody	Often (30–79%)
Abulia	Often (30–79%)
Anxiety	Often (30–79%)
Axial dystonia	Often (30–79%)
Compulsive hoarding	Often (30–79%)
Dementia	Often (30–79%)
Depression	Often (30–79%)
Diminished movement	Often (30–79%)
Dystonia	Often (30–79%)
EEG with continuous slow activity	Often (30–79%)
Impulsivity	Often (30–79%)
Involuntary movements	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Limb myoclonus	Often (30–79%)
Palilalia	Often (30–79%)
Parkinsonism	Often (30–79%)
Slowed slurred speech	Often (30–79%)
Somatic sensory dysfunction	Often (30–79%)
Speech articulation difficulties	Often (30–79%)
Tachylalia	Often (30–79%)
Text blindness	Often (30–79%)
Tremor	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal lower motor neuron morphology	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Head jerking	Sometimes (5–29%)
Impaired visuospatial constructive cognition	Sometimes (5–29%)
Inability to speak	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Loss of expressive speech	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Short stepped shuffling walk	Sometimes (5–29%)
Social and occupational deterioration	Sometimes (5–29%)
Upper motor neuron dysfunction	Sometimes (5–29%)
Abnormal pyramidal tract morphology	Not recorded
Brain neoplasm	Not recorded
Difficulty sleeping	Not recorded
Diminished motivation	Not recorded
Frontal lobe dementia	Not recorded
Frontal release signs	Not recorded
Frontolimbic dementia	Not recorded
Gliosis	Not recorded
Granulovacuolar degeneration	Not recorded
Inappropriate laughter	Not recorded
Inappropriate sexual behavior	Not recorded
Increased appetite	Not recorded
Language impairment	Not recorded
Lewy bodies	Not recorded
Limb dystonia	Not recorded
Loss of brain cells	Not recorded
Neuronal loss in basal ganglia	Not recorded
Primitive reflex	Not recorded
Resting tremor	Not recorded
Substantia nigra gliosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal saccadic eye movements	Very often (80–99%)
Slow eye movements	Very often (80–99%)
Vertical supranuclear gaze palsy	Very often (80–99%)
Abnormality of eye movement	Often (30–79%)
Blurred vision	Often (30–79%)
Decreased tear secretion	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Slowed horizontal saccades	Often (30–79%)
Supranuclear gaze palsy	Often (30–79%)
Hypometric saccades	Rarely (1–4%)
Oculomotor apraxia	Rarely (1–4%)
Double vision	Not recorded
Weakness of muscles controlling eye movement	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Thickened skin folds of neck	Very often (80–99%)
Conjunctival hyperemia	Often (30–79%)
Eyelid spasm	Often (30–79%)
Fixed facial expression	Often (30–79%)
Difficulty opening the eyelids	Not recorded
Expressionless face	Not recorded
Retrocollis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rigidity	Always
Axial muscle stiffness	Often (30–79%)
Frequent falls	Often (30–79%)
Progressive extrapyramidal muscular rigidity	Often (30–79%)
Spastic dysarthria	Often (30–79%)
Kyphoscoliosis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Neuromuscular dysphagia	Sometimes (5–29%)
Constipation	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hand clenching	Often (30–79%)
Distal lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stroke	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Urinary urgency	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Weak voice	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAPT and how often each is seen. Find out more at hpo.jax.org.

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