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Gaucher disease

Other Names for this Disease
  • Acute cerebral Gaucher disease
  • Cerebroside lipidosis syndrome
  • Gaucher splenomegaly
  • Glucocerebrosidosis
  • Glucosyl cerebroside lipidosis
More Names
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Overview


Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.[1]

References

  1. Gaucher disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed May 3, 2011.
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On this page

General 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. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher disease. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Gaucher disease. Click on the link to go to OMIM and review these resources.