Trăsături

Trăsături asociate cu KCNA1

potassium voltage-gated channel subfamily A member 1

Human Phenotype Ontology asociază 105 trăsături cu KCNA1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

KCNA1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Întotdeauna
Abnormality of movement	Foarte des (80–99%)
Balance impairment	Foarte des (80–99%)
Chorea	Foarte des (80–99%)
Disorder of involuntary muscle movements	Foarte des (80–99%)
Dystonia	Foarte des (80–99%)
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Incoordination	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Involuntary movements	Foarte des (80–99%)
Involuntary writhing movements in fingers, hands, toes, and feet	Foarte des (80–99%)
Myokymia	Foarte des (80–99%)
Ataxia	Des (30–79%)
Clumsiness	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal sensory seizure	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Headache	Des (30–79%)
Hypsarrhythmia	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Slurred speech	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Jerking	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Migraine	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Uneori (5–29%)
Writer's cramp	Uneori (5–29%)
Babinski sign	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
EMG abnormality	Foarte des (80–99%)
Spastic walk	Foarte des (80–99%)
Type 1 muscle fiber predominance	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Muscle spasm	Des (30–79%)
Muscle stiffness	Des (30–79%)
Poor head control	Des (30–79%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Myotonia	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Muscular abnormality	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Craniofacial disproportion	Uneori (5–29%)
Abnormally small head	Rar (1–4%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hand clenching	Uneori (5–29%)
Increased size of calf muscles	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)
Abnormality of the hand	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Nausea	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blurred vision	Des (30–79%)
Double vision	Des (30–79%)
Cross-eyed	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive sweating	Des (30–79%)
Absent thumbnail	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Foarte des (80–99%)

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 KCNA1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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