Tunnused

Geeniga SCN2A seotud tunnused

sodium voltage-gated channel alpha subunit 2

Inimese fenotüübi ontoloogia seostab geeniga SCN2A 204 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SCN2A

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Sageli (30–79%)
Facial tics	Sageli (30–79%)
Limited neck range of motion	Sageli (30–79%)
Decreased facial muscle tone	Mõnikord (5–29%)
Downturned corners of mouth	Mõnikord (5–29%)
Drooling	Mõnikord (5–29%)
Exaggerated cupid's bow	Mõnikord (5–29%)
High forehead	Mõnikord (5–29%)
Thin eyebrow	Mõnikord (5–29%)
Cleft palate	Harva (1–4%)
Depressed nasal bridge	Harva (1–4%)
Nasal tip, upturned	Harva (1–4%)
Sloping forehead	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Vomiting	Alati
Abnormality of the gastrointestinal tract	Väga sageli (80–99%)
Gastrointestinal dysmotility	Väga sageli (80–99%)
Abdominal bloating	Sageli (30–79%)
Anorexia	Sageli (30–79%)
Constipation	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Oral-pharyngeal dysphagia	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Nausea	Mõnikord (5–29%)
Umbilical hernia	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Involuntary, rapid, rhythmic eye movements	Alati
Abnormal involuntary eye movements	Sageli (30–79%)
Dilated pupil	Sageli (30–79%)
Inward turning cross eyed	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Ocular flutter	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)
Staring gaze	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Functional motor deficit	Väga sageli (80–99%)
Cogwheel rigidity	Sageli (30–79%)
Decreased muscle tone in infant	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Rigidity	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Spastic tetraplegia	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Dropped arches	Mõnikord (5–29%)
Limited knee straightening	Mõnikord (5–29%)
Pes valgus	Mõnikord (5–29%)
Skewfoot	Mõnikord (5–29%)
Tibial torsion	Mõnikord (5–29%)
Broad finger	Harva (1–4%)
Short finger	Harva (1–4%)
Talipes valgus	Harva (1–4%)
Wide toe bones	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal skin structure	Sageli (30–79%)
Flushing	Sageli (30–79%)
Paleness	Sageli (30–79%)
Blue discoloration of the skin	Mõnikord (5–29%)
Cyanotic episode	Mõnikord (5–29%)
Excessive sweating	Mõnikord (5–29%)
Absent thumbnail	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal T-wave	Mõnikord (5–29%)
Aortopulmonary collateral arteries	Mõnikord (5–29%)
Cardiac conduction abnormality	Mõnikord (5–29%)
Abnormal heart rate	Harva (1–4%)
Disease of the heart muscle	Harva (1–4%)
Hole in heart wall separating two lower heart chambers	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Renal dysplasia	Harva (1–4%)
Short penis	Harva (1–4%)
Ureterocele	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Sageli (30–79%)
Aspiration	Mõnikord (5–29%)
Breathing difficulties	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Alati
Paroxysmal vertigo	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Dehydration	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SCN2A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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