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Gaucher disease can be classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2–4 The classic categories of types 1, 2, and 3 have blurred edges along the continuum of the disease.

Adapted from Sidransky E, 2004. Mol Genet Metab. 83(1–2):6–15.3

The table summarises aspects of Gaucher disease according to the three different types.1,5

 Type 1 Non neuronopathic(≥1/100 to <1/10)Type 2 Acute neuronopathic (≥1/100 to <1/10)Type 3 Chronic neuronopathic (≥1/100 to <1/10)
Prevalence1:50,000 – 1:100,000 (pan-ethnic)
1:850 (Ashkenazi Jews)
< 1:150,000 (pan-ethnic)< 1:150,000 (pan-ethnic)
Age at presentationAnyInfancyChildhood
LifespanVariable< 2 y< 40 y
Primary CNS diseaseNoneSevereMild to severe
HepatosplenomegalyMild to severeSevereMild to severe
Mild to severeSevereMild to severe
Osseous symptomsMild to severeNoneMild to moderate
  1. Mistry PK, et al. Am J Hematol 2011. 86(1):110–115.
  2. Charrow J, et al. Clin Genet 2007. 71(3):211–215.
  3. Sidransky E, et al. Mol Genet Metab. 2004. 83(1–2):6–15.
  4. Sidransky E, et al. Gaucher disease clinical presentation. Updated November
  5. Niederau C. Gaucher Disease 3rd edition. Bremen: Uni-Med, 2017.

MAT-XU-2201084 (v2.0) Date of preparation: October 2023