Orphanet: Gaucher disease type 1

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Gaucher disease type 1

Disease definition

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.


Classification level: Subtype of disorder
  • Synonym(s):
    • Non-cerebral juvenile Gaucher disease
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E75.2
  • OMIM: 230800
  • UMLS: C1961835
  • MeSH: -
  • GARD: 2441
  • MedDRA: -

Detailed information

Article for general public


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