Traits

Traits linked to SLC2A1

solute carrier family 2 member 1

The Human Phenotype Ontology links 185 traits to SLC2A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte det ses
Convulsive status epilepticus	Altid
Delayed CNS myelination	Altid
Delayed speech and language development	Altid
Difficulty articulating speech	Altid
Disorder of involuntary muscle movements	Altid
Epilepsy	Altid
Inability to coordinate movements when walking	Altid
Intellectual disability	Altid
Interictal EEG abnormality	Altid
Jerking	Altid
Slurred speech	Altid
Ataxia	Meget ofte (80–99 %)
Choreoathetosis	Meget ofte (80–99 %)
Dystonia	Meget ofte (80–99 %)
EEG abnormality	Meget ofte (80–99 %)
EEG with focal spike waves	Meget ofte (80–99 %)
Encephalopathy	Meget ofte (80–99 %)
Episodic hemiplegia	Meget ofte (80–99 %)
Generalized myoclonic-atonic seizure	Meget ofte (80–99 %)
Global developmental delay	Meget ofte (80–99 %)
Paroxysmal dyskinesia	Meget ofte (80–99 %)
Repeated seizures without recovery between them	Meget 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	Nogle gange (5–29 %)
Abnormality of movement	Nogle gange (5–29 %)
Absent reflexes	Nogle gange (5–29 %)
Aggressive behavior	Nogle gange (5–29 %)
Apraxia	Nogle gange (5–29 %)
Autism spectrum disorder	Nogle gange (5–29 %)
Brain imaging abnormality	Nogle gange (5–29 %)
Bulbar signs	Nogle gange (5–29 %)
Can't control feelings	Nogle gange (5–29 %)
Cerebral white matter hypoplasia	Nogle gange (5–29 %)
Communicating hydrocephalus	Nogle gange (5–29 %)
Decreased thalamic volume	Nogle gange (5–29 %)
Delayed myelination	Nogle gange (5–29 %)
Difficulty sleeping	Nogle gange (5–29 %)
EEG with generalized slow activity	Nogle gange (5–29 %)
EEG with irregular generalized spike and wave complexes	Nogle gange (5–29 %)
Focal motor seizure	Nogle gange (5–29 %)
Grand mal seizures	Nogle gange (5–29 %)
Impulsivity	Nogle gange (5–29 %)
Interictal epileptiform activity	Nogle gange (5–29 %)
Irritability	Nogle gange (5–29 %)
Migraine	Nogle gange (5–29 %)
Poor social interactions	Nogle gange (5–29 %)
Simple febrile seizure	Nogle gange (5–29 %)
Specific learning disability	Nogle gange (5–29 %)
Tremor	Nogle gange (5–29 %)
Worsening neurological symptoms	Nogle gange (5–29 %)
Epileptic encephalopathy	Sjældent (1–4%)
Seizure affecting one half of brain	Sjældent (1–4%)
Unsteady walk	Sjældent (1–4%)
Abnormal pyramidal tract morphology	Ikke registreret
Absent speech development	Ikke registreret
Cognitive impairment	Ikke registreret
Degeneration of cerebrum	Ikke registreret
Epileptic spasm	Ikke registreret
Inability to walk	Ikke registreret
Paroxysmal dystonia	Ikke registreret
Paroxysmal lethargy	Ikke registreret

Abnormality of head or neck

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

Abnormality of the eye

Trait	Hvor ofte det ses
Involuntary, rapid, rhythmic eye movements	Altid
Yellowish cloudy center of lens	Altid
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	Nogle gange (5–29 %)
Ocular flutter	Nogle gange (5–29 %)
Oculomotor apraxia	Nogle gange (5–29 %)
Zonular cataract	Nogle gange (5–29 %)
Abnormally small eyeball	Sjældent (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Jaundice	Altid
Abnormality of the gastrointestinal tract	Meget ofte (80–99 %)
Gastrointestinal dysmotility	Meget 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 registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Intracerebral periventricular calcifications	Altid
Low muscle tone	Altid
Spasticity and rigidity of muscles	Altid
Involuntary muscle stiffness, contraction, or spasm	Meget ofte (80–99 %)
Muscle stiffness	Ofte (30–79 %)
Spastic paraplegia	Ofte (30–79 %)
Rigidity	Nogle gange (5–29 %)
Shorter than typical length between neck and abdomen	Nogle gange (5–29 %)
Lower limb spasticity	Sjældent (1–4%)

Laboratory abnormality

Trait	Hvor ofte det ses
Conjugated hyperbilirubinemia	Altid
Decreased circulating haptoglobin concentration	Altid
Elevated gamma-glutamyltransferase level	Altid
Increased circulating potassium concentration	Altid
Low glucose levels in cerebral spinal fluid	Altid
Increased CSF lactate	Ofte (30–79 %)
Dehydration	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Increased spleen size	Altid
Enlarged liver and spleen	Ofte (30–79 %)
Abnormal T-wave	Nogle gange (5–29 %)
Cardiac conduction abnormality	Nogle gange (5–29 %)
Abnormal heart rate	Sjældent (1–4%)
Disease of the heart muscle	Sjældent (1–4%)

Abnormality of the integument

Trait	Hvor ofte det ses
Blue discoloration of the skin	Ofte (30–79 %)
Flushing	Ofte (30–79 %)
Paleness	Ofte (30–79 %)
Excessive sweating	Nogle gange (5–29 %)
Frontal balding	Sjældent (1–4%)
Premature skin wrinkling	Sjældent (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Hemolytic anemia	Altid
Increased immature red blood cells	Altid
Stomatocytosis	Altid
Abnormal erythrocyte morphology	Meget ofte (80–99 %)
Spontaneous hemolytic crises	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Apnea	Nogle gange (5–29 %)
Aspiration	Nogle gange (5–29 %)
Breathing difficulties	Nogle gange (5–29 %)
Central apnea	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Short stature	Altid
Faltering weight	Ofte (30–79 %)
Growth delay as children	Ofte (30–79 %)
Growth delay	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Short fingers or toes	Nogle gange (5–29 %)
Skewfoot	Nogle gange (5–29 %)
Webbed fingers or toes	Sjældent (1–4%)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Fetal distress	Altid
High levels of amniotic fluid	Altid

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Increased intracellular sodium	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Large ears	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent infections	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SLC2A1 and how often each is seen. Find out more at hpo.jax.org.

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