|
Symbol Name ID |
Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1 MGI:95755 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypoglycorrhachia |
Increased CSF lactate |
Lower limb spasticity |
Spastic paraplegia |
Cerebral atrophy |
Abnormal pyramidal tract morphology |
Ataxia |
Episodic ataxia |
Choreoathetosis |
Chorea |
Involuntary movements |
Paroxysmal dyskinesia |
Tremor |
Abnormal pyramidal sign |
EEG abnormality |
Dysarthria |
Irritability |
Aggressive behavior |
Cognitive impairment |
Intellectual disability |
Intellectual disability, mild |
Hyperreflexia |
Hyperactive deep tendon reflexes |
Dyskinesia |
Dystonia |
Torsion dystonia |
Headache |
Migraine |
Global developmental delay |
Specific learning disability |
Seizure |
Bilateral tonic-clonic seizure |
Generalized non-motor (absence) seizure |
Paresthesia |
| Disease(s) Associated with SLC2A1 | ||||||||||||||||||||||||||||||||||
| childhood onset GLUT1 deficiency syndrome 2 | ||||||||||||||||||||||||||||||||||
| dystonia 9 | ||||||||||||||||||||||||||||||||||
| idiopathic generalized epilepsy 12 |
| Mouse Phenotypes | sporadic seizures |
decreased brain weight |
|
| Availability | Mouse Genotype | ||
| Slc2a1tm1Dcdv/Slc2a1+ | |||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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