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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
Disease Ontology
DOID:1926
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2629 GBA1 glucosylceramidase beta 1
5313 PKLR pyruvate kinase L/R
7124 TNF tumor necrosis factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14466 Gba1 glucosylceramidase beta 1
19156 Psap prosaposin
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: December 9, 2024