Traits

Traits linked to OPTN

optineurin

The Human Phenotype Ontology links 52 traits to OPTN, 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
Lou Gehrig's disease	Always
Motor neuron atrophy	Very often (80–99%)
Ongoing loss of nerve cells	Very often (80–99%)
Anxiety	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Can't control feelings	Often (30–79%)
Cognitive impairment	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Hoffmann sign	Often (30–79%)
Increased reflexes	Often (30–79%)
Muscle twitch	Often (30–79%)
Paralysis	Often (30–79%)
Difficulty sleeping	Sometimes (5–29%)
Frontotemporal dementia	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Jaw hyperreflexia	Sometimes (5–29%)
Language impairment	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: positive sharp waves	Always
Muscle weakness	Always
Generalized muscle weakness	Very often (80–99%)
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%)

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%)

Abnormality of head or neck

Trait	How often it is seen
Decreased salivary flow	Often (30–79%)
Drooling	Often (30–79%)
Tongue twitching	Often (30–79%)
Wasting of the tongue	Often (30–79%)

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%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Not recorded
Open angle glaucoma	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Pain	Often (30–79%)

Growth abnormality

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

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)

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 OPTN and how often each is seen. Find out more at hpo.jax.org.

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