Orphanet: Fanconi Bickel syndrome
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.