OnlineIMD
Glucose transporter 1 deficiency
(GLUT1 deficiency)
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
SLC2A1
/ solute carrier family 2 member 1
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glucose transporter type 1 protein
Disease group(s)
3.6 Disorders of carbohydrate transmembrane transport and absorption
Child entries
SLC2A1-related Epilepsy with myoclonic absences
SLC2A1-related cryohydrocytosis with reduced stomatin
SLC2A1-related paroxysmal dystonic choreathetosis with episodic ataxia and spasticity