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Gaucher disease

Disease Summary
Associated Targets (257)
Tbio

186

Tchem

49

Tclin

18

Tdark

4


GARD Rare
Mondo Description 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).
Uniprot Description A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
Disease Ontology Description A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Mondo Term and Equivalent IDs
MONDO:0018150:  Gaucher disease
GARD:0008233: 
ICD10:E75.22: 
MESH:D005776: 
NCIT:C61268: 
Orphanet:355: 
SCTID:190794006: 
UMLS:C0017205: