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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 31 - 37 of 37 in total
Gene ID Gene Symbol Description Source
54579 UGT1A5 UDP glucuronosyltransferase family 1 member A5
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54659 UGT1A3 UDP glucuronosyltransferase family 1 member A3
57704 GBA2 glucosylceramidase beta 2
57733 GBA3 glucosylceramidase beta 3 (gene/pseudogene)
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024