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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Acute cerebral Gaucher disease
  • Cerebroside lipidosis syndrome
  • Gaucher splenomegaly
  • Sphingolipidosis 1
  • Glucocerebrosidosis
  • Glucosylceramidase deficiency
  • Glucosyl cerebroside lipidosis
  • Kerasin lipoidosis
  • Kerasin thesaurismosis



Gaucher disease
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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. January 2008 Available at: http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed May 3, 2011.
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