Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Gaucher disease


Other Names for this Disease

  • Acute cerebral Gaucher disease
  • Cerebroside lipidosis syndrome
  • Gaucher splenomegaly
  • Glucocerebrosidosis
  • Glucosyl cerebroside lipidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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]
Last updated: 5/3/2011

References

  1. Gaucher disease. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed 5/3/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Gaucher disease. We will answer your question and update these pages with new resources and information.

Basic Information

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.
  • The 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.
  • 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.
Other Names for this Disease
  • Acute cerebral Gaucher disease
  • Cerebroside lipidosis syndrome
  • Gaucher splenomegaly
  • Glucocerebrosidosis
  • Glucosyl cerebroside lipidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.