Požymiai

Su SCN1A susiję požymiai

sodium voltage-gated channel alpha subunit 1

Žmogaus fenotipo ontologija sieja 222 požymių su SCN1A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SCN1A

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Grand mal seizures	Visada
Inability to walk	Visada
IQ less than 20	Visada
Migraine with aura	Visada
Multifocal epileptiform discharges	Visada
Myoclonic seizure	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Absent speech development	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
Cognitive impairment	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
EEG with focal sharp slow waves	Labai dažnai (80–99%)
EEG with focal spike waves	Labai dažnai (80–99%)
Encephalopathy	Labai dažnai (80–99%)
Fear of loud sounds	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Focal sensory seizure	Labai dažnai (80–99%)
Generalized myoclonic-atonic seizure	Labai dažnai (80–99%)
Generalized-onset seizure	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Loss of developmental milestones	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Progressive gait ataxia	Labai dažnai (80–99%)
Seizure affecting one half of brain	Labai dažnai (80–99%)
Abnormal shape of brainstem	Dažnai (30–79%)
Abnormality of coordination	Dažnai (30–79%)
Aggressive behavior	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Atypical absence seizure	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Balance impairment	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Bilateral tonic-clonic seizure with focal onset	Dažnai (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Complex febrile seizure	Dažnai (30–79%)
Confusion	Dažnai (30–79%)
CSF lymphocytic pleiocytosis	Dažnai (30–79%)
CSF pleocytosis	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Degeneration of cerebrum	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
Dissociated sensory loss	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
EEG with multifocal slow activity	Dažnai (30–79%)
EEG with polyspike wave complexes	Dažnai (30–79%)
EEG with spike-wave complexes (>3.5 Hz)	Dažnai (30–79%)
Epilepsia partialis continua	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Epileptic spasm	Dažnai (30–79%)
Falls	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 emotional seizure with laughing	Dažnai (30–79%)
Focal hemiclonic seizure	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Focal manual automatism seizure	Dažnai (30–79%)
Focal pedal automatism seizure	Dažnai (30–79%)
Generalized clonic seizure	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Generalized tonic seizure	Dažnai (30–79%)
Hyperactive movements	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
Interictal epileptiform activity	Dažnai (30–79%)
Involuntary movements	Dažnai (30–79%)
IQ between 34 and 49	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Jerking	Dažnai (30–79%)
Lack of peer relationships	Dažnai (30–79%)
Mental deterioration	Dažnai (30–79%)
More active than typical	Dažnai (30–79%)
Obsessive-compulsive trait	Dažnai (30–79%)
Parkinsonism	Dažnai (30–79%)
Personality disorder	Dažnai (30–79%)
Photosensitive myoclonic seizure	Dažnai (30–79%)
Photosensitive tonic-clonic seizure	Dažnai (30–79%)
Pins and needles feeling	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Small hippocampus	Dažnai (30–79%)
Status epilepticus without prominent motor symptoms	Dažnai (30–79%)
Sudden loss of muscle tone	Dažnai (30–79%)
Tonic seizure	Dažnai (30–79%)
Weakness of one side of body	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Abnormal emotional state	Kartais (5–29%)
Abnormal gait	Kartais (5–29%)
Abnormal myelination	Kartais (5–29%)
Action tremor	Kartais (5–29%)
Alien limb phenomenon	Kartais (5–29%)
Atypical absence status epilepticus	Kartais (5–29%)
Autism	Kartais (5–29%)
Brain degeneration	Kartais (5–29%)
Brain imaging abnormality	Kartais (5–29%)
Brisk reflexes	Kartais (5–29%)
Chorea	Kartais (5–29%)
Coma	Kartais (5–29%)
Cortical dysplasia	Kartais (5–29%)
Decreased vigilance	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Difficulty finding words	Kartais (5–29%)
Diminished deep tendon reflex	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 generalized sharp slow waves	Kartais (5–29%)
EEG with generalized slow activity	Kartais (5–29%)
EEG with irregular generalized spike and wave complexes	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Generalized brain degeneration	Kartais (5–29%)
Generalized cerebral degeneration/underdevelopment	Kartais (5–29%)
Hypsarrhythmia	Kartais (5–29%)
Impaired temperature sensation	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Lack of feeling, emotion, interest	Kartais (5–29%)
Language impairment	Kartais (5–29%)
Myoclonic absence seizure	Kartais (5–29%)
Paralysis on one side of body	Kartais (5–29%)
Poor fine motor coordination	Kartais (5–29%)
Poor social interactions	Kartais (5–29%)
Psychosis	Kartais (5–29%)
Repetitive movements	Kartais (5–29%)
Short attention span	Kartais (5–29%)
Simple febrile seizure	Kartais (5–29%)
Spontaneous pain sensation	Kartais (5–29%)
Tremor	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)
Abnormal pyramidal sign	Retai (1–4 %)
EEG with focal sharp waves	Retai (1–4 %)
Epileptic encephalopathy	Retai (1–4 %)
Repeated seizures without recovery between them	Retai (1–4 %)
Motor delay	Neužfiksuota
Visually-induced seizure	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%)
Tongue twitching	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Drooling	Kartais (5–29%)
Facial paralysis	Kartais (5–29%)
Failure of development of between one and six teeth	Kartais (5–29%)
High forehead	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Nuchal rigidity	Kartais (5–29%)
Abnormal facial shape	Retai (1–4 %)
Broad philtrum	Retai (1–4 %)
Full lower lip	Retai (1–4 %)
Long philtrum	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Prominent forehead	Retai (1–4 %)
Thick nasal alae	Retai (1–4 %)
Thin red part of the upper lip	Retai (1–4 %)
Wide mouth	Retai (1–4 %)
Wide nasal bridge	Retai (1–4 %)
Development of small head that was not present at birth	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Extreme sensitivity of the eyes to light	Labai dažnai (80–99%)
Blind spot	Dažnai (30–79%)
Double vision	Dažnai (30–79%)
Metamorphopsia	Dažnai (30–79%)
Photopsia	Dažnai (30–79%)
Drooping upper eyelid	Kartais (5–29%)
Gaze-evoked horizontal nystagmus	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Seesaw nystagmus	Kartais (5–29%)
Spasmus nutans	Kartais (5–29%)
Vertical nystagmus	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Abnormal involuntary eye movements	Retai (1–4 %)
Abnormality of vision	Retai (1–4 %)
Abnormally small eyeball	Retai (1–4 %)
Amaurosis fugax	Retai (1–4 %)
Optic atrophy	Retai (1–4 %)
Retina degeneration	Retai (1–4 %)
Blindness	Neužfiksuota
Cerebral visual impairment	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Functional motor deficit	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Cogwheel rigidity	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Rigidity	Dažnai (30–79%)
Decreased muscle tone in infant	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
First dorsal interossei muscle weakness	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Distal upper limb muscle weakness	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Limited knee straightening	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Tibial torsion	Kartais (5–29%)
Increased muscle tone of arm or leg	Retai (1–4 %)
Talipes valgus	Retai (1–4 %)
Webbed fingers or toes	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Cyanotic episode	Kartais (5–29%)
Paleness	Kartais (5–29%)
Frontal balding	Retai (1–4 %)
Premature skin wrinkling	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Gastrostomy tube feeding in infancy	Visada
Acid reflux	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Ringing in ears	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Brain swelling	Dažnai (30–79%)
Increased CSF protein concentration	Dažnai (30–79%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Aortopulmonary collateral arteries	Kartais (5–29%)

Abnormality of the endocrine system

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

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Sudden unexpected death in epilepsy	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 SCN1A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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