Gaucher disease

Orpha code: 355OMIM code: 610539

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).

Disease data
Classification

Disease

Synonyms
Acid beta-glucosidase deficiency
Niedobór glukocerebrozydazy
Niedobór kwaśnej beta-glukozydazy
Glucocerebrosidase deficiency
ORPHA code
355
OMIM code
610539
ICD10 code
E75.2
ICD11 code
5C56.0Y

No additional description.

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