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

Abnormality of head or neck

Trait	나타나는 빈도
Progressively abnormally small cranium	매우 자주 (80–99%)
Abnormally small head	가끔 (5–29%)
Big calvaria	가끔 (5–29%)
Broad neck	가끔 (5–29%)
Decreased facial muscle tone	가끔 (5–29%)
Downturned corners of mouth	가끔 (5–29%)
Exaggerated cupid's bow	가끔 (5–29%)
High forehead	가끔 (5–29%)
Short neck	가끔 (5–29%)
Thin eyebrow	가끔 (5–29%)
Abnormal facial shape	드물게 (1–4%)
Broad philtrum	드물게 (1–4%)
Full lower lip	드물게 (1–4%)
Long philtrum	드물게 (1–4%)
Nasal tip, upturned	드물게 (1–4%)
Prominent forehead	드물게 (1–4%)
Thick nasal alae	드물게 (1–4%)
Thin red part of the upper lip	드물게 (1–4%)
Wide mouth	드물게 (1–4%)
Wide nasal bridge	드물게 (1–4%)
Development of small head that was not present at birth	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Involuntary, rapid, rhythmic eye movements	항상
Yellowish cloudy center of lens	항상
Abnormal involuntary eye movements	자주 (30–79%)
Clouding of the lens of the eye	자주 (30–79%)
Dilated pupil	자주 (30–79%)
Double vision	자주 (30–79%)
Inward turning cross eyed	자주 (30–79%)
Outward facing eye ball	자주 (30–79%)
Paroxysmal involuntary eye movements	자주 (30–79%)
Cross-eyed	가끔 (5–29%)
Ocular flutter	가끔 (5–29%)
Oculomotor apraxia	가끔 (5–29%)
Zonular cataract	가끔 (5–29%)
Abnormally small eyeball	드물게 (1–4%)

Abnormality of the digestive system

Trait	나타나는 빈도
Jaundice	항상
Abnormality of the gastrointestinal tract	매우 자주 (80–99%)
Gastrointestinal dysmotility	매우 자주 (80–99%)
Abdominal bloating	자주 (30–79%)
Anorexia	자주 (30–79%)
Constipation	자주 (30–79%)
Diarrhea	자주 (30–79%)
Oral-pharyngeal dysphagia	자주 (30–79%)
Poor swallowing	자주 (30–79%)
Vomiting	자주 (30–79%)
Enlarged liver	기록되지 않음

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Intracerebral periventricular calcifications	항상
Low muscle tone	항상
Spasticity and rigidity of muscles	항상
Involuntary muscle stiffness, contraction, or spasm	매우 자주 (80–99%)
Muscle stiffness	자주 (30–79%)
Spastic paraplegia	자주 (30–79%)
Rigidity	가끔 (5–29%)
Shorter than typical length between neck and abdomen	가끔 (5–29%)
Lower limb spasticity	드물게 (1–4%)

Laboratory abnormality

Trait	나타나는 빈도
Conjugated hyperbilirubinemia	항상
Decreased circulating haptoglobin concentration	항상
Elevated gamma-glutamyltransferase level	항상
Increased circulating potassium concentration	항상
Low glucose levels in cerebral spinal fluid	항상
Increased CSF lactate	자주 (30–79%)
Dehydration	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Increased spleen size	항상
Enlarged liver and spleen	자주 (30–79%)
Abnormal T-wave	가끔 (5–29%)
Cardiac conduction abnormality	가끔 (5–29%)
Abnormal heart rate	드물게 (1–4%)
Disease of the heart muscle	드물게 (1–4%)

Abnormality of the integument

Trait	나타나는 빈도
Blue discoloration of the skin	자주 (30–79%)
Flushing	자주 (30–79%)
Paleness	자주 (30–79%)
Excessive sweating	가끔 (5–29%)
Frontal balding	드물게 (1–4%)
Premature skin wrinkling	드물게 (1–4%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Hemolytic anemia	항상
Increased immature red blood cells	항상
Stomatocytosis	항상
Abnormal erythrocyte morphology	매우 자주 (80–99%)
Spontaneous hemolytic crises	자주 (30–79%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Apnea	가끔 (5–29%)
Aspiration	가끔 (5–29%)
Breathing difficulties	가끔 (5–29%)
Central apnea	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Short stature	항상
Faltering weight	자주 (30–79%)
Growth delay as children	자주 (30–79%)
Growth delay	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Short fingers or toes	가끔 (5–29%)
Skewfoot	가끔 (5–29%)
Webbed fingers or toes	드물게 (1–4%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Fetal distress	항상
High levels of amniotic fluid	항상

Abnormal cellular phenotype

Trait	나타나는 빈도
Increased intracellular sodium	자주 (30–79%)

Abnormality of the ear

Trait	나타나는 빈도
Large ears	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Recurrent infections	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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