Catalog

Gaucher disease

No MMS code

Link to WHO Definition

Gaucher disease – http://id.who.int/icd/entity/1923566939

Gaucher disease is a lysosomal storage disorder by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, and 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).