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

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Progressively abnormally small cranium	Labai dažnai (80–99%)
Abnormally small head	Kartais (5–29%)
Big calvaria	Kartais (5–29%)
Broad neck	Kartais (5–29%)
Decreased facial muscle tone	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
High forehead	Kartais (5–29%)
Short neck	Kartais (5–29%)
Thin eyebrow	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

Trait	Kaip dažnai pasireiškia
Involuntary, rapid, rhythmic eye movements	Visada
Yellowish cloudy center of lens	Visada
Abnormal involuntary eye movements	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Dilated pupil	Dažnai (30–79%)
Double vision	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Paroxysmal involuntary eye movements	Dažnai (30–79%)
Cross-eyed	Kartais (5–29%)
Ocular flutter	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Zonular cataract	Kartais (5–29%)
Abnormally small eyeball	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Jaundice	Visada
Abnormality of the gastrointestinal tract	Labai dažnai (80–99%)
Gastrointestinal dysmotility	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Anorexia	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Enlarged liver	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Intracerebral periventricular calcifications	Visada
Low muscle tone	Visada
Spasticity and rigidity of muscles	Visada
Involuntary muscle stiffness, contraction, or spasm	Labai dažnai (80–99%)
Muscle stiffness	Dažnai (30–79%)
Spastic paraplegia	Dažnai (30–79%)
Rigidity	Kartais (5–29%)
Shorter than typical length between neck and abdomen	Kartais (5–29%)
Lower limb spasticity	Retai (1–4 %)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Conjugated hyperbilirubinemia	Visada
Decreased circulating haptoglobin concentration	Visada
Elevated gamma-glutamyltransferase level	Visada
Increased circulating potassium concentration	Visada
Low glucose levels in cerebral spinal fluid	Visada
Increased CSF lactate	Dažnai (30–79%)
Dehydration	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Increased spleen size	Visada
Enlarged liver and spleen	Dažnai (30–79%)
Abnormal T-wave	Kartais (5–29%)
Cardiac conduction abnormality	Kartais (5–29%)
Abnormal heart rate	Retai (1–4 %)
Disease of the heart muscle	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Blue discoloration of the skin	Dažnai (30–79%)
Flushing	Dažnai (30–79%)
Paleness	Dažnai (30–79%)
Excessive sweating	Kartais (5–29%)
Frontal balding	Retai (1–4 %)
Premature skin wrinkling	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Hemolytic anemia	Visada
Increased immature red blood cells	Visada
Stomatocytosis	Visada
Abnormal erythrocyte morphology	Labai dažnai (80–99%)
Spontaneous hemolytic crises	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Apnea	Kartais (5–29%)
Aspiration	Kartais (5–29%)
Breathing difficulties	Kartais (5–29%)
Central apnea	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Visada
Faltering weight	Dažnai (30–79%)
Growth delay as children	Dažnai (30–79%)
Growth delay	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Short fingers or toes	Kartais (5–29%)
Skewfoot	Kartais (5–29%)
Webbed fingers or toes	Retai (1–4 %)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Fetal distress	Visada
High levels of amniotic fluid	Visada

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Increased intracellular sodium	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Large ears	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent infections	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

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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