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glucose transporter type 1 deficiency syndrome 1
Summary
- Synonym
-
- De Vivo disease
- GLUT1 deficiency syndrome 1
- GLUT1DS1
- classic GLUT1 deficiency syndrome
- classic GLUT1-DS
- classic glucose transporter type 1 deficiency syndrome
- encephalopathy due to GLUT1 deficiency
- Definition
- A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.
- Super Class
- glucose transporter type 1 deficiency syndrome
External Links
- Disease Ontology
- DOID:0070561
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11166 | Solute carrier family 2, facilitated glucose transporter member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BTM5 | Major facilitator superfamily (MFS) profile domain-containing protein (Fragment) |
