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Genetic and Rare Diseases Information Center (GARD)

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Gaucher disease type 1


Other Names for this Disease

  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
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Overview

Gaucher disease type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of Gaucher disease. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  The condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. Gaucher disease is caused by mutations in the GBA gene and is inherited in an autosomal recessive pattern. [1]
Last updated: 2/9/2011

References

  1. Gaucher disease. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed 5/3/2011.
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Basic Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
  • Genetics Home Reference (GHR) contains information on Gaucher disease type 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher disease type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acid beta-glucosidase deficiency
  • Gaucher disease, noncerebral juvenile
  • GBA DEFICIENCY
  • GD 1
  • Glucocerebrosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.