Kjennetegn

Kjennetegn knyttet til SLC2A1

solute carrier family 2 member 1

Human Phenotype Ontology knytter 185 kjennetegn til SLC2A1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

SLC2A1

Abnormality of the nervous system

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

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Progressively abnormally small cranium	Svært ofte (80–99 %)
Abnormally small head	Noen ganger (5–29 %)
Big calvaria	Noen ganger (5–29 %)
Broad neck	Noen ganger (5–29 %)
Decreased facial muscle tone	Noen ganger (5–29 %)
Downturned corners of mouth	Noen ganger (5–29 %)
Exaggerated cupid's bow	Noen ganger (5–29 %)
High forehead	Noen ganger (5–29 %)
Short neck	Noen ganger (5–29 %)
Thin eyebrow	Noen ganger (5–29 %)
Abnormal facial shape	Sjelden (1–4%)
Broad philtrum	Sjelden (1–4%)
Full lower lip	Sjelden (1–4%)
Long philtrum	Sjelden (1–4%)
Nasal tip, upturned	Sjelden (1–4%)
Prominent forehead	Sjelden (1–4%)
Thick nasal alae	Sjelden (1–4%)
Thin red part of the upper lip	Sjelden (1–4%)
Wide mouth	Sjelden (1–4%)
Wide nasal bridge	Sjelden (1–4%)
Development of small head that was not present at birth	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Involuntary, rapid, rhythmic eye movements	Alltid
Yellowish cloudy center of lens	Alltid
Abnormal involuntary eye movements	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Dilated pupil	Ofte (30–79 %)
Double vision	Ofte (30–79 %)
Inward turning cross eyed	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Paroxysmal involuntary eye movements	Ofte (30–79 %)
Cross-eyed	Noen ganger (5–29 %)
Ocular flutter	Noen ganger (5–29 %)
Oculomotor apraxia	Noen ganger (5–29 %)
Zonular cataract	Noen ganger (5–29 %)
Abnormally small eyeball	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Jaundice	Alltid
Abnormality of the gastrointestinal tract	Svært ofte (80–99 %)
Gastrointestinal dysmotility	Svært ofte (80–99 %)
Abdominal bloating	Ofte (30–79 %)
Anorexia	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Oral-pharyngeal dysphagia	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Enlarged liver	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Intracerebral periventricular calcifications	Alltid
Low muscle tone	Alltid
Spasticity and rigidity of muscles	Alltid
Involuntary muscle stiffness, contraction, or spasm	Svært ofte (80–99 %)
Muscle stiffness	Ofte (30–79 %)
Spastic paraplegia	Ofte (30–79 %)
Rigidity	Noen ganger (5–29 %)
Shorter than typical length between neck and abdomen	Noen ganger (5–29 %)
Lower limb spasticity	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Conjugated hyperbilirubinemia	Alltid
Decreased circulating haptoglobin concentration	Alltid
Elevated gamma-glutamyltransferase level	Alltid
Increased circulating potassium concentration	Alltid
Low glucose levels in cerebral spinal fluid	Alltid
Increased CSF lactate	Ofte (30–79 %)
Dehydration	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Increased spleen size	Alltid
Enlarged liver and spleen	Ofte (30–79 %)
Abnormal T-wave	Noen ganger (5–29 %)
Cardiac conduction abnormality	Noen ganger (5–29 %)
Abnormal heart rate	Sjelden (1–4%)
Disease of the heart muscle	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Blue discoloration of the skin	Ofte (30–79 %)
Flushing	Ofte (30–79 %)
Paleness	Ofte (30–79 %)
Excessive sweating	Noen ganger (5–29 %)
Frontal balding	Sjelden (1–4%)
Premature skin wrinkling	Sjelden (1–4%)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Hemolytic anemia	Alltid
Increased immature red blood cells	Alltid
Stomatocytosis	Alltid
Abnormal erythrocyte morphology	Svært ofte (80–99 %)
Spontaneous hemolytic crises	Ofte (30–79 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Noen ganger (5–29 %)
Aspiration	Noen ganger (5–29 %)
Breathing difficulties	Noen ganger (5–29 %)
Central apnea	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Short stature	Alltid
Faltering weight	Ofte (30–79 %)
Growth delay as children	Ofte (30–79 %)
Growth delay	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Short fingers or toes	Noen ganger (5–29 %)
Skewfoot	Noen ganger (5–29 %)
Webbed fingers or toes	Sjelden (1–4%)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Fetal distress	Alltid
High levels of amniotic fluid	Alltid

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Increased intracellular sodium	Ofte (30–79 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Large ears	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent infections	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til SLC2A1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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