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

Abnormality of head or neck

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

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Involuntary, rapid, rhythmic eye movements	Her zaman
Yellowish cloudy center of lens	Her zaman
Abnormal involuntary eye movements	Sık (%30–79)
Clouding of the lens of the eye	Sık (%30–79)
Dilated pupil	Sık (%30–79)
Double vision	Sık (%30–79)
Inward turning cross eyed	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Paroxysmal involuntary eye movements	Sık (%30–79)
Cross-eyed	Bazen (%5–29)
Ocular flutter	Bazen (%5–29)
Oculomotor apraxia	Bazen (%5–29)
Zonular cataract	Bazen (%5–29)
Abnormally small eyeball	Seyrek (%1–4)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Jaundice	Her zaman
Abnormality of the gastrointestinal tract	Çok sık (%80–99)
Gastrointestinal dysmotility	Çok sık (%80–99)
Abdominal bloating	Sık (%30–79)
Anorexia	Sık (%30–79)
Constipation	Sık (%30–79)
Diarrhea	Sık (%30–79)
Oral-pharyngeal dysphagia	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Vomiting	Sık (%30–79)
Enlarged liver	Kaydedilmedi

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Intracerebral periventricular calcifications	Her zaman
Low muscle tone	Her zaman
Spasticity and rigidity of muscles	Her zaman
Involuntary muscle stiffness, contraction, or spasm	Çok sık (%80–99)
Muscle stiffness	Sık (%30–79)
Spastic paraplegia	Sık (%30–79)
Rigidity	Bazen (%5–29)
Shorter than typical length between neck and abdomen	Bazen (%5–29)
Lower limb spasticity	Seyrek (%1–4)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Conjugated hyperbilirubinemia	Her zaman
Decreased circulating haptoglobin concentration	Her zaman
Elevated gamma-glutamyltransferase level	Her zaman
Increased circulating potassium concentration	Her zaman
Low glucose levels in cerebral spinal fluid	Her zaman
Increased CSF lactate	Sık (%30–79)
Dehydration	Bazen (%5–29)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Increased spleen size	Her zaman
Enlarged liver and spleen	Sık (%30–79)
Abnormal T-wave	Bazen (%5–29)
Cardiac conduction abnormality	Bazen (%5–29)
Abnormal heart rate	Seyrek (%1–4)
Disease of the heart muscle	Seyrek (%1–4)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Blue discoloration of the skin	Sık (%30–79)
Flushing	Sık (%30–79)
Paleness	Sık (%30–79)
Excessive sweating	Bazen (%5–29)
Frontal balding	Seyrek (%1–4)
Premature skin wrinkling	Seyrek (%1–4)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Hemolytic anemia	Her zaman
Increased immature red blood cells	Her zaman
Stomatocytosis	Her zaman
Abnormal erythrocyte morphology	Çok sık (%80–99)
Spontaneous hemolytic crises	Sık (%30–79)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Apnea	Bazen (%5–29)
Aspiration	Bazen (%5–29)
Breathing difficulties	Bazen (%5–29)
Central apnea	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Short stature	Her zaman
Faltering weight	Sık (%30–79)
Growth delay as children	Sık (%30–79)
Growth delay	Kaydedilmedi

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Short fingers or toes	Bazen (%5–29)
Skewfoot	Bazen (%5–29)
Webbed fingers or toes	Seyrek (%1–4)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Fetal distress	Her zaman
High levels of amniotic fluid	Her zaman

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Increased intracellular sodium	Sık (%30–79)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Large ears	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Recurrent infections	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al