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Encephalopathy due to GLUT1 deficiency
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood absence epilepsy
Epilepsy with myoclonic-astatic seizures
Hereditary cryohydrocytosis with reduced stomatin
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Chuvash erythrocytosis
Von Hippel-Lindau disease
Synonym(s):
- De Vivo disease
- Glucose transporter type 1 deficiency
- Glut-1 deficiency Syndrome
- Glut1-DS
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC2A1 P11166138140
No signs/symptoms info available.