Požymiai

Su SCN2A susiję požymiai

sodium voltage-gated channel alpha subunit 2

Žmogaus fenotipo ontologija sieja 204 požymių su SCN2A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SCN2A

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Autism	Visada
Bilateral tonic-clonic seizure with focal onset	Visada
Cerebellar edema	Visada
Delayed ability to stand	Visada
Dystonia	Visada
Encephalopathy	Visada
Epilepsy	Visada
Epileptic encephalopathy	Visada
Episodic ataxia	Visada
Fluid-filled sac located in membrane surrounding brain or spinal cord	Visada
Generalized brain degeneration	Visada
Grand mal seizures	Visada
Hyperactive movements	Visada
Intellectual disability, severe	Visada
Repeated seizures without recovery between them	Visada
Severe global developmental delay	Visada
Tonic seizure	Visada
Cognitive impairment	Labai dažnai (80–99%)
Episodic hemiplegia	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Generalized myoclonic seizure	Labai dažnai (80–99%)
Generalized-onset seizure	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Hypsarrhythmia	Labai dažnai (80–99%)
Inability to walk	Labai dažnai (80–99%)
Infantile spasms	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Jerking	Labai dažnai (80–99%)
Loss of developmental milestones	Labai dažnai (80–99%)
Multifocal epileptiform discharges	Labai dažnai (80–99%)
Neonatal seizure	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Normal interictal EEG	Labai dažnai (80–99%)
Progressive gait ataxia	Labai dažnai (80–99%)
Seizure affecting one half of brain	Labai dažnai (80–99%)
Abnormal autonomic nervous system physiology	Dažnai (30–79%)
Abnormality of the nervous system	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Atypical absence seizure	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Chorea	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Complex febrile seizure	Dažnai (30–79%)
Degeneration of cerebrum	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
EEG with burst suppression	Dažnai (30–79%)
EEG with focal spikes	Dažnai (30–79%)
Epilepsia partialis continua	Dažnai (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Dažnai (30–79%)
Focal aware seizure	Dažnai (30–79%)
Focal clonic seizure	Dažnai (30–79%)
Focal emotional seizure with laughing	Dažnai (30–79%)
Focal hemiclonic seizure	Dažnai (30–79%)
Focal impaired awareness autonomic seizure	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Generalized clonic seizure	Dažnai (30–79%)
Generalized tonic seizure	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Interictal epileptiform activity	Dažnai (30–79%)
Involuntary movements	Dažnai (30–79%)
Involuntary writhing movements in fingers, hands, toes, and feet	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Myoclonic seizure	Dažnai (30–79%)
Obsessive-compulsive trait	Dažnai (30–79%)
Parkinsonism	Dažnai (30–79%)
Paroxysmal dyskinesia	Dažnai (30–79%)
Photosensitive myoclonic seizure	Dažnai (30–79%)
Photosensitive tonic-clonic seizure	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Tetraparesis	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Abnormal pyramidal sign	Kartais (5–29%)
Absent reflexes	Kartais (5–29%)
Action tremor	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Atypical absence status epilepticus	Kartais (5–29%)
Balance impairment	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Clonic seizure	Kartais (5–29%)
Cortical dysplasia	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Diffuse cerebral atrophy	Kartais (5–29%)
Diffuse white matter abnormalities	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Dysgenesis of the hippocampus	Kartais (5–29%)
EEG with focal epileptiform discharges	Kartais (5–29%)
EEG with generalized epileptiform discharges	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Epileptic spasm	Kartais (5–29%)
Experiential epileptic aura	Kartais (5–29%)
Eyelid myoclonia seizure	Kartais (5–29%)
Fewer and broader ridges in brain	Kartais (5–29%)
Focal head nodding automatism seizure	Kartais (5–29%)
Generalized cerebral degeneration/underdevelopment	Kartais (5–29%)
Headache	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Limb myoclonus	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Neonatal electro-clinical seizure with behavior arrest	Kartais (5–29%)
Poor fine motor coordination	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Short attention span	Kartais (5–29%)
Slurred speech	Kartais (5–29%)
Status epilepticus without prominent motor symptoms	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Tremor	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Kartais (5–29%)
Worsening neurological symptoms	Kartais (5–29%)
Continuous spike and waves during slow sleep	Retai (1–4 %)
Mental deterioration	Retai (1–4 %)
Simple febrile seizure	Retai (1–4 %)
Brain imaging abnormality	Neužfiksuota
Psychomotor deterioration	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Dažnai (30–79%)
Facial tics	Dažnai (30–79%)
Limited neck range of motion	Dažnai (30–79%)
Decreased facial muscle tone	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Drooling	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
High forehead	Kartais (5–29%)
Thin eyebrow	Kartais (5–29%)
Cleft palate	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Sloping forehead	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Vomiting	Visada
Abnormality of the gastrointestinal tract	Labai dažnai (80–99%)
Gastrointestinal dysmotility	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Anorexia	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Nausea	Kartais (5–29%)
Umbilical hernia	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Involuntary, rapid, rhythmic eye movements	Visada
Abnormal involuntary eye movements	Dažnai (30–79%)
Dilated pupil	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Ocular flutter	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Staring gaze	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Cross-eyed	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Functional motor deficit	Labai dažnai (80–99%)
Cogwheel rigidity	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Rigidity	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Spastic tetraplegia	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Kartais (5–29%)
Limited knee straightening	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Skewfoot	Kartais (5–29%)
Tibial torsion	Kartais (5–29%)
Broad finger	Retai (1–4 %)
Short finger	Retai (1–4 %)
Talipes valgus	Retai (1–4 %)
Wide toe bones	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin structure	Dažnai (30–79%)
Flushing	Dažnai (30–79%)
Paleness	Dažnai (30–79%)
Blue discoloration of the skin	Kartais (5–29%)
Cyanotic episode	Kartais (5–29%)
Excessive sweating	Kartais (5–29%)
Absent thumbnail	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal T-wave	Kartais (5–29%)
Aortopulmonary collateral arteries	Kartais (5–29%)
Cardiac conduction abnormality	Kartais (5–29%)
Abnormal heart rate	Retai (1–4 %)
Disease of the heart muscle	Retai (1–4 %)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Renal dysplasia	Retai (1–4 %)
Short penis	Retai (1–4 %)
Ureterocele	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Dažnai (30–79%)
Aspiration	Kartais (5–29%)
Breathing difficulties	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Visada
Paroxysmal vertigo	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Dehydration	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SCN2A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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