특성

SCN2A 연관 특성

sodium voltage-gated channel alpha subunit 2

인간 표현형 온톨로지가 SCN2A에 연결하는 특성은 204개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of head or neck

특성	나타나는 빈도
Abnormally small head	자주 (30–79%)
Facial tics	자주 (30–79%)
Limited neck range of motion	자주 (30–79%)
Decreased facial muscle tone	가끔 (5–29%)
Downturned corners of mouth	가끔 (5–29%)
Drooling	가끔 (5–29%)
Exaggerated cupid's bow	가끔 (5–29%)
High forehead	가끔 (5–29%)
Thin eyebrow	가끔 (5–29%)
Cleft palate	드물게 (1–4%)
Depressed nasal bridge	드물게 (1–4%)
Nasal tip, upturned	드물게 (1–4%)
Sloping forehead	드물게 (1–4%)

Abnormality of the digestive system

특성	나타나는 빈도
Vomiting	항상
Abnormality of the gastrointestinal tract	매우 자주 (80–99%)
Gastrointestinal dysmotility	매우 자주 (80–99%)
Abdominal bloating	자주 (30–79%)
Anorexia	자주 (30–79%)
Constipation	자주 (30–79%)
Diarrhea	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Oral-pharyngeal dysphagia	자주 (30–79%)
Poor suck	자주 (30–79%)
Poor swallowing	자주 (30–79%)
Nausea	가끔 (5–29%)
Umbilical hernia	드물게 (1–4%)

Abnormality of the eye

특성	나타나는 빈도
Involuntary, rapid, rhythmic eye movements	항상
Abnormal involuntary eye movements	자주 (30–79%)
Dilated pupil	자주 (30–79%)
Inward turning cross eyed	자주 (30–79%)
Outward facing eye ball	자주 (30–79%)
Ocular flutter	가끔 (5–29%)
Oculomotor apraxia	가끔 (5–29%)
Staring gaze	가끔 (5–29%)
Visual impairment	가끔 (5–29%)
Cross-eyed	드물게 (1–4%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Functional motor deficit	매우 자주 (80–99%)
Cogwheel rigidity	자주 (30–79%)
Decreased muscle tone in infant	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Poor head control	자주 (30–79%)
Rigidity	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Spasticity and rigidity of muscles	가끔 (5–29%)
Spastic tetraplegia	기록되지 않음

Abnormality of limbs

특성	나타나는 빈도
Dropped arches	가끔 (5–29%)
Limited knee straightening	가끔 (5–29%)
Pes valgus	가끔 (5–29%)
Skewfoot	가끔 (5–29%)
Tibial torsion	가끔 (5–29%)
Broad finger	드물게 (1–4%)
Short finger	드물게 (1–4%)
Talipes valgus	드물게 (1–4%)
Wide toe bones	드물게 (1–4%)

Abnormality of the integument

특성	나타나는 빈도
Abnormal skin structure	자주 (30–79%)
Flushing	자주 (30–79%)
Paleness	자주 (30–79%)
Blue discoloration of the skin	가끔 (5–29%)
Cyanotic episode	가끔 (5–29%)
Excessive sweating	가끔 (5–29%)
Absent thumbnail	드물게 (1–4%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormal T-wave	가끔 (5–29%)
Aortopulmonary collateral arteries	가끔 (5–29%)
Cardiac conduction abnormality	가끔 (5–29%)
Abnormal heart rate	드물게 (1–4%)
Disease of the heart muscle	드물게 (1–4%)
Hole in heart wall separating two lower heart chambers	드물게 (1–4%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Renal dysplasia	드물게 (1–4%)
Short penis	드물게 (1–4%)
Ureterocele	드물게 (1–4%)

Abnormality of the respiratory system

특성	나타나는 빈도
Apnea	자주 (30–79%)
Aspiration	가끔 (5–29%)
Breathing difficulties	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Dizziness	항상
Paroxysmal vertigo	자주 (30–79%)

Abnormality of the endocrine system

특성	나타나는 빈도
Early onset of puberty	드물게 (1–4%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)

Laboratory abnormality

특성	나타나는 빈도
Dehydration	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: SCN2A에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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