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glycogen storage disease due to GLUT2 deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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

  • Bickel-Fanconi glycogenosis
  • FBS
  • Fanconi Bickel syndrome
  • Fanconi syndrome with intestinal malabsorption and galactose intolerance
  • Fanconi-Bickel disease
  • Fanconi-Bickel syndrome
  • GLUT2 deficiency
  • GSD due to GLUT2 deficiency
  • GSD type 11
  • GSD type XI
  • glycogen storage disease 11
  • glycogen storage disease XI
  • glycogen storage disease due to GLUT2 deficiency
  • glycogen storage disease type 11
  • glycogen storage disease type XI
  • glycogenosis Fanconi EXACT
  • glycogenosis due to GLUT2 deficiency
  • glycogenosis, Fanconi type
  • hepatic glycogenosis with Fanconi nephropathy
  • hepatic glycogenosis with amino aciduria and glucosuria
  • hepatorenal glycogenosis with renal Fanconi syndrome
  • hepatorenal glycogenosis with renal fanconi syndrome
  • pseudo-phlorizin diabetes
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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