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glucose transporter type 1 deficiency syndrome 2
Summary
- Synonym
-
- DYT18
- GLUT1 deficiency syndrome 2
- GLUT1DS2
- childhood-onset GLUT1 deficiency syndrome 2
- dystonia 18
- Definition
- A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
- Super Class
- autosomal dominant disease dystonia glucose transporter type 1 deficiency syndrome
External Links
- Disease Ontology
- DOID:0090045
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11166 | Solute carrier family 2, facilitated glucose transporter member 1 |
