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Glycogen storage disease due to GLUT2 deficiency

^ http://www.orpha.net/ORDO/Orphanet_2088


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

Synonyms: Glycogen storage disease type XI, Glycogen storage disease type 11, Bickel-Fanconi glycogenosis, GSD due to GLUT2 deficiency, GSD type 11, Glycogenosis due to GLUT2 deficiency, GSD type XI, Fanconi-Bickel disease

Term info

database cross reference
  • OMIM:227810 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C3495427 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E74.0 (Attributed)
  • ICD-10:E74.0 (NTBT (narrower term maps to a broader term))
hasDbXref

OMIM:227810, ICD-10:E74.0, UMLS:C3495427

notation

ORPHA:2088