Traits

Traits linked to TREM2

triggering receptor expressed on myeloid cells 2

The Human Phenotype Ontology links 157 traits to TREM2, 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
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Dementia	Always
Lateral ventricle dilatation	Always
Leukoencephalopathy	Always
Lou Gehrig's disease	Always
Abnormal social behavior	Very often (80–99%)
Aggressive behavior	Very often (80–99%)
Agitation	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Brain degeneration	Very often (80–99%)
Confusion	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%)
Epilepsy	Very often (80–99%)
Frontal lobe dementia	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%)
Hallucinations	Very often (80–99%)
Hyperorality	Very often (80–99%)
Inappropriate behavior	Very often (80–99%)
Irritability	Very often (80–99%)
Jerking	Very often (80–99%)
Lack of insight	Very often (80–99%)
Language impairment	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Loss of speech	Very often (80–99%)
Memory impairment	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Motor neuron atrophy	Very often (80–99%)
Neurodevelopmental abnormality	Very often (80–99%)
Neurofibrillary tangles	Very often (80–99%)
Ongoing loss of nerve cells	Very often (80–99%)
Parkinsonism	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%)
Spoken word recognition deficit	Very often (80–99%)
Temporal cortical atrophy	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Ventriculomegaly	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 speech pattern	Often (30–79%)
Abnormality of movement	Often (30–79%)
Abulia	Often (30–79%)
Anxiety	Often (30–79%)
Apraxia	Often (30–79%)
Babinski sign	Often (30–79%)
Can't control feelings	Often (30–79%)
Caudate atrophy	Often (30–79%)
Chorea	Often (30–79%)
Cognitive impairment	Often (30–79%)
Compulsive hoarding	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Disturbed sensory perception	Often (30–79%)
EEG with continuous slow activity	Often (30–79%)
Hoffmann sign	Often (30–79%)
Increased reflexes	Often (30–79%)
Muscle twitch	Often (30–79%)
Paralysis	Often (30–79%)
T2 hypointense thalamus	Often (30–79%)
Text blindness	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal lower motor neuron morphology	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Abnormality of mental function	Sometimes (5–29%)
Astrocytosis	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Finger agnosia	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Inability to speak	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Jaw hyperreflexia	Sometimes (5–29%)
Lack of feeling, emotion, interest	Sometimes (5–29%)
Loss of expressive speech	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Senile plaques	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Trouble remembering words	Sometimes (5–29%)
Upper motor neuron dysfunction	Sometimes (5–29%)
Abnormal shape of upper motor neuron	Not recorded
Alzheimer disease	Not recorded
Axonal loss	Not recorded
Brain neoplasm	Not recorded
CNS demyelination	Not recorded
Degeneration of cerebrum	Not recorded
EEG abnormality	Not recorded
Euphoria	Not recorded
Gliosis	Not recorded
Lewy bodies	Not recorded
Peripheral demyelination	Not recorded
Primitive reflex	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Bone cyst	Always
Abnormal shape of end part of bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormality of adipose tissue	Very often (80–99%)
Bone pain	Very often (80–99%)
Deposits immunoreactive to beta-amyloid protein	Very often (80–99%)
Generalized muscle weakness	Very often (80–99%)
Limitation of joint mobility	Very often (80–99%)
Low solidness and mass of the bones	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Abnormal deposits of calcium in the brain	Often (30–79%)
Distal muscle wasting	Often (30–79%)
Fatigable weakness of bulbar muscles	Often (30–79%)
Fatigable weakness of respiratory muscles	Often (30–79%)
Fatigable weakness of swallowing muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Muscle degeneration	Often (30–79%)
Muscle spasm	Often (30–79%)
Progressive distal muscular atrophy	Often (30–79%)
Spastic paraparesis	Sometimes (5–29%)
Osteopenia	Not recorded
Spontaneous fracture	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Thickened skin folds of neck	Very often (80–99%)
Decreased salivary flow	Often (30–79%)
Drooling	Often (30–79%)
Wasting of the tongue	Often (30–79%)
Tongue twitching	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Foot drop	Sometimes (5–29%)
Abnormal feet structure	Not recorded
Abnormality of the hand	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality on pulmonary function testing	Often (30–79%)
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Orthopnea	Sometimes (5–29%)
Laryngospasm	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Very often (80–99%)
Fatigue	Often (30–79%)
Pain	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Functional abnormality of the gastrointestinal tract	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Often (30–79%)
Abnormality of vision	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)
Wasting syndrome	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute blood cancer	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
Loss of bladder control	Not recorded

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	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 TREM2 and how often each is seen. Find out more at hpo.jax.org.

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