Trăsături

Trăsături asociate cu VPS13A

vacuolar protein sorting 13 homolog A

Human Phenotype Ontology asociază 102 trăsături cu VPS13A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Caudate atrophy	Întotdeauna
Chorea	Întotdeauna
Difficulty articulating speech	Întotdeauna
Lack of feeling, emotion, interest	Întotdeauna
Lateral ventricle dilatation	Întotdeauna
Orofacial dyskinesia	Întotdeauna
Peripheral axonal neuropathy	Întotdeauna
Self-mutilation of tongue and lips due to involuntary movements	Întotdeauna
Teeth grinding	Întotdeauna
Involuntary movements	Foarte des (80–99%)
Absent reflexes	Des (30–79%)
Anxiety	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Decreased amplitude of sensory action potentials	Des (30–79%)
Decreased reflex response	Des (30–79%)
Depression	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Epilepsy	Des (30–79%)
Falls	Des (30–79%)
Grand mal seizures	Des (30–79%)
Impaired vibratory sensation	Des (30–79%)
Incoordination	Des (30–79%)
Laryngeal dystonia	Des (30–79%)
Limb dystonia	Des (30–79%)
Motor tics	Des (30–79%)
Parkinsonism	Des (30–79%)
Phonic tics	Des (30–79%)
Abnormal hippocampus morphology	Uneori (5–29%)
Abnormal putamen morphology	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Decreased number of peripheral myelinated nerve fibers	Uneori (5–29%)
Dementia	Uneori (5–29%)
Frontal cortical atrophy	Uneori (5–29%)
Hair-pulling	Uneori (5–29%)
Head titubation	Uneori (5–29%)
Head-banging	Uneori (5–29%)
Hyperactive movements	Uneori (5–29%)
Inappropriate behavior	Uneori (5–29%)
Irritability	Uneori (5–29%)
Lingual dystonia	Uneori (5–29%)
Loss of ability to walk	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Mental slowness	Uneori (5–29%)
Micrographia	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Obsessive compulsive behavior	Uneori (5–29%)
Oromandibular dystonia	Uneori (5–29%)
Paranoia	Uneori (5–29%)
Resting tremor	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Self-neglect	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Slow movements	Uneori (5–29%)
Slurred speech	Uneori (5–29%)
Small basal ganglia	Uneori (5–29%)
Small hippocampus	Uneori (5–29%)
Abnormal autonomic nervous system physiology	Rar (1–4%)
Difficulty sleeping	Rar (1–4%)
Iron accumulation in brain	Rar (1–4%)
Damage to nerves that sense feeling	Neînregistrat
Disinhibition	Neînregistrat
Dystonia	Neînregistrat
Personality changes	Neînregistrat
Progressive choreoathetosis	Neînregistrat
Psychosis	Neînregistrat
Tic disorder	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Distal muscle wasting	Des (30–79%)
EMG: neuropathic changes	Des (30–79%)
Muscle fiber degeneration	Des (30–79%)
Muscle tissue disease	Des (30–79%)
Weakness of outermost muscles	Des (30–79%)
Arthritis	Uneori (5–29%)
Functional motor deficit	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Muscle degeneration	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent ankle reflexes	Des (30–79%)
Equinovarus deformity	Uneori (5–29%)
Peroneal muscle atrophy	Uneori (5–29%)
High-arched foot	Neînregistrat
Limb muscle weakness	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Eyelid spasm	Uneori (5–29%)
Jaw joint clicking sound	Uneori (5–29%)
Protruding tongue	Uneori (5–29%)
Drooling	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Square-wave jerks	Des (30–79%)
Abnormality of eye movement	Uneori (5–29%)
Slow eye movements	Uneori (5–29%)
Upgaze palsy	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Des (30–79%)
Increased circulating lactate dehydrogenase concentration	Des (30–79%)
Elevated circulating alanine aminotransferase concentration	Rar (1–4%)
Elevated circulating aspartate aminotransferase concentration	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Acanthocytosis	Întotdeauna
Abnormal erythrocyte enzyme concentration or activity	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Uneori (5–29%)
Stretched and thinned heart muscle	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Întotdeauna
Enlarged liver	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Uneori (5–29%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu VPS13A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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