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Gaucher disease

Disease definition

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms).

ORPHA:355

  • Synonym(s):
    • Acid beta-glucosidase deficiency
    • Glucocerebrosidase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E75.2
  • OMIM: 230800  230900  231000  231005  608013  610539
  • UMLS: C0017205
  • MeSH: D005776
  • GARD: 8233
  • MedDRA: 10018048

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