Trăsături

Trăsături asociate cu SLC2A1

solute carrier family 2 member 1

Human Phenotype Ontology asociază 185 trăsături cu SLC2A1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SLC2A1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Convulsive status epilepticus	Întotdeauna
Delayed CNS myelination	Întotdeauna
Delayed speech and language development	Întotdeauna
Difficulty articulating speech	Întotdeauna
Disorder of involuntary muscle movements	Întotdeauna
Epilepsy	Întotdeauna
Inability to coordinate movements when walking	Întotdeauna
Intellectual disability	Întotdeauna
Interictal EEG abnormality	Întotdeauna
Jerking	Întotdeauna
Slurred speech	Întotdeauna
Ataxia	Foarte des (80–99%)
Choreoathetosis	Foarte des (80–99%)
Dystonia	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
EEG with focal spike waves	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Episodic hemiplegia	Foarte des (80–99%)
Generalized myoclonic-atonic seizure	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Paroxysmal dyskinesia	Foarte des (80–99%)
Repeated seizures without recovery between them	Foarte des (80–99%)
Abnormal autonomic nervous system physiology	Des (30–79%)
Abnormal pyramidal sign	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
Chorea	Des (30–79%)
Confusion	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Episodic ataxia	Des (30–79%)
Extrapyramidal dyskinesia	Des (30–79%)
Generalized hyperreflexia	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Headache	Des (30–79%)
Hyperactive deep tendon reflexes	Des (30–79%)
Increased reflexes	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
Involuntary movements	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Lack of peer relationships	Des (30–79%)
Lethargy	Des (30–79%)
More active than typical	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Paralysis	Des (30–79%)
Pins and needles feeling	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Tetraparesis	Des (30–79%)
Torsion dystonia	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Abnormal emotional state	Uneori (5–29%)
Abnormality of movement	Uneori (5–29%)
Absent reflexes	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Apraxia	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Brain imaging abnormality	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Cerebral white matter hypoplasia	Uneori (5–29%)
Communicating hydrocephalus	Uneori (5–29%)
Decreased thalamic volume	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
EEG with generalized slow activity	Uneori (5–29%)
EEG with irregular generalized spike and wave complexes	Uneori (5–29%)
Focal motor seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Interictal epileptiform activity	Uneori (5–29%)
Irritability	Uneori (5–29%)
Migraine	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Tremor	Uneori (5–29%)
Worsening neurological symptoms	Uneori (5–29%)
Epileptic encephalopathy	Rar (1–4%)
Seizure affecting one half of brain	Rar (1–4%)
Unsteady walk	Rar (1–4%)
Abnormal pyramidal tract morphology	Neînregistrat
Absent speech development	Neînregistrat
Cognitive impairment	Neînregistrat
Degeneration of cerebrum	Neînregistrat
Epileptic spasm	Neînregistrat
Inability to walk	Neînregistrat
Paroxysmal dystonia	Neînregistrat
Paroxysmal lethargy	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Progressively abnormally small cranium	Foarte des (80–99%)
Abnormally small head	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Broad neck	Uneori (5–29%)
Decreased facial muscle tone	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
High forehead	Uneori (5–29%)
Short neck	Uneori (5–29%)
Thin eyebrow	Uneori (5–29%)
Abnormal facial shape	Rar (1–4%)
Broad philtrum	Rar (1–4%)
Full lower lip	Rar (1–4%)
Long philtrum	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Thick nasal alae	Rar (1–4%)
Thin red part of the upper lip	Rar (1–4%)
Wide mouth	Rar (1–4%)
Wide nasal bridge	Rar (1–4%)
Development of small head that was not present at birth	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Yellowish cloudy center of lens	Întotdeauna
Abnormal involuntary eye movements	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Dilated pupil	Des (30–79%)
Double vision	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Paroxysmal involuntary eye movements	Des (30–79%)
Cross-eyed	Uneori (5–29%)
Ocular flutter	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Zonular cataract	Uneori (5–29%)
Abnormally small eyeball	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Jaundice	Întotdeauna
Abnormality of the gastrointestinal tract	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Anorexia	Des (30–79%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Enlarged liver	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Intracerebral periventricular calcifications	Întotdeauna
Low muscle tone	Întotdeauna
Spasticity and rigidity of muscles	Întotdeauna
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Muscle stiffness	Des (30–79%)
Spastic paraplegia	Des (30–79%)
Rigidity	Uneori (5–29%)
Shorter than typical length between neck and abdomen	Uneori (5–29%)
Lower limb spasticity	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Conjugated hyperbilirubinemia	Întotdeauna
Decreased circulating haptoglobin concentration	Întotdeauna
Elevated gamma-glutamyltransferase level	Întotdeauna
Increased circulating potassium concentration	Întotdeauna
Low glucose levels in cerebral spinal fluid	Întotdeauna
Increased CSF lactate	Des (30–79%)
Dehydration	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Întotdeauna
Enlarged liver and spleen	Des (30–79%)
Abnormal T-wave	Uneori (5–29%)
Cardiac conduction abnormality	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Disease of the heart muscle	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Blue discoloration of the skin	Des (30–79%)
Flushing	Des (30–79%)
Paleness	Des (30–79%)
Excessive sweating	Uneori (5–29%)
Frontal balding	Rar (1–4%)
Premature skin wrinkling	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Hemolytic anemia	Întotdeauna
Increased immature red blood cells	Întotdeauna
Stomatocytosis	Întotdeauna
Abnormal erythrocyte morphology	Foarte des (80–99%)
Spontaneous hemolytic crises	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Uneori (5–29%)
Aspiration	Uneori (5–29%)
Breathing difficulties	Uneori (5–29%)
Central apnea	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Faltering weight	Des (30–79%)
Growth delay as children	Des (30–79%)
Growth delay	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Uneori (5–29%)
Skewfoot	Uneori (5–29%)
Webbed fingers or toes	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal distress	Întotdeauna
High levels of amniotic fluid	Întotdeauna

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased intracellular sodium	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large ears	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Uneori (5–29%)

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 SLC2A1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu