Trăsături

Trăsături asociate cu SCN3A

sodium voltage-gated channel alpha subunit 3

Human Phenotype Ontology asociază 85 trăsături cu SCN3A, 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
Abnormal autonomic nervous system physiology	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Seizure affecting one half of brain	Întotdeauna
EEG with focal epileptiform discharges	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Abnormal cerebral white matter morphology	Des (30–79%)
Abnormality of coordination	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed speech and language development	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Inability to walk	Des (30–79%)
Intellectual disability	Des (30–79%)
Interictal EEG abnormality	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
More grooves in brain	Des (30–79%)
Nocturnal seizures	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Clonic seizure	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Deja vu	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Focal aware seizure	Uneori (5–29%)
Focal cortical dysplasia	Uneori (5–29%)
Hallucinations of sound	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Intellectual disability, borderline	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Loss of expressive speech	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Multifocal epileptiform discharges	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Visual hallucinations	Uneori (5–29%)
Hemimegalencephaly	Rar (1–4%)
Repeated seizures without recovery between them	Rar (1–4%)
Absent speech development	Neînregistrat
Epileptic encephalopathy	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cerebral visual impairment	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Small face	Întotdeauna
Abnormally small head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Flushing	Uneori (5–29%)
Paleness	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	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 SCN3A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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