Traits

Traits linked to OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

The Human Phenotype Ontology links 52 traits to OPA3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Choreoathetosis	Foarte des (80–99%)
Absent reflexes	Des (30–79%)
Ataxia	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Intellectual disability	Des (30–79%)
Pins and needles feeling	Des (30–79%)
Postural tremor	Des (30–79%)
Somatic sensory dysfunction	Des (30–79%)
Unsteady walk	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Positive Romberg sign	Uneori (5–29%)
Reading disability	Uneori (5–29%)
Resting tremor	Uneori (5–29%)
Abnormality of extrapyramidal motor function	Neînregistrat
Babinski sign	Neînregistrat
Chorea	Neînregistrat
Cognitive impairment	Neînregistrat
Increased reflexes	Neînregistrat
Tremor	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Blind spot	Întotdeauna
Optic atrophy	Întotdeauna
Visual impairment	Întotdeauna
Clouding of the lens of the eye	Foarte des (80–99%)
Decreased clarity of vision	Foarte des (80–99%)
Blind spot located at fixation point	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Optic disc pallor	Des (30–79%)
Posterior cortical cataract	Des (30–79%)
Anterior cortical cataract	Uneori (5–29%)
Anterior subcapsular cataract	Uneori (5–29%)
Blindness	Uneori (5–29%)
Blue yellow color blindness	Uneori (5–29%)
Cerulean cataract	Uneori (5–29%)
Posterior subcapsular cataract	Uneori (5–29%)
Red green color blindness	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Areflexia of lower limbs	Des (30–79%)
Abnormality of the thumb	Uneori (5–29%)
Absent ankle reflexes	Uneori (5–29%)
Displaced index finger	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Limited elbow extension	Uneori (5–29%)
Limited wrist movement	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Muscle spasm	Des (30–79%)
Spastic paraparesis	Des (30–79%)
Extrapyramidal muscular rigidity	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
3-Methylglutaconic aciduria	Întotdeauna
3-Methylglutaric aciduria	Întotdeauna

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Des (30–79%)

Constitutional symptom

Trait	Cât de frecvent apare
Pain	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to OPA3 and how often each is seen. Find out more at hpo.jax.org.

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