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Fanconi-Bickel syndrome

Disease definition

A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.

ORPHA:2088

Classification level: Disorder
  • Synonym(s):
    • GSD due to GLUT2 deficiency
    • GSD type 11
    • GSD type XI
    • Glycogen storage disease due to GLUT2 deficiency
    • Glycogen storage disease type 11
    • Glycogen storage disease type XI
    • Glycogenosis due to GLUT2 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.0
  • OMIM: 227810
  • UMLS: C3495427
  • MeSH: -
  • GARD: 2268
  • MedDRA: -
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