Gaucher's disease

Summary
Synonym
  • Gaucher disease
  • acid beta-glucosidase deficiency
  • glocucerebrosidase deficiency
  • glucosylceramide beta-glucosidase deficiency
  • kerasin thesaurismosis
Definition
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.
Super Class
sphingolipidosis
External Links
Disease Ontology
DOID:1926
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 37 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3073 HEXA hexosaminidase subunit alpha
3425 IDUA alpha-L-iduronidase
4121 MAN1A1 mannosidase alpha class 1A member 1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5313 PKLR pyruvate kinase L/R
5538 PPT1 palmitoyl-protein thioesterase 1
5660 PSAP prosaposin
6476 SI sucrase-isomaltase
6609 SMPD1 sphingomyelin phosphodiesterase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14466 Gba1 glucosylceramidase beta 1
21926 Tnf tumor necrosis factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24651 Pklr pyruvate kinase L/R
24835 Tnf tumor necrosis factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
42620 PyK Pyruvate kinase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
173574 gba-1 Putative glucosylceramidase 1
177314 gba-4 Putative glucosylceramidase 4
178535 gba-3 Putative glucosylceramidase 3
183155 gba-2 Putative glucosylceramidase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
854529 PYK2 pyruvate kinase PYK2
Related Glycoprotein

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Last updated: August 19, 2024