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