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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
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14410 | Sucrase-isomaltase, intestinal | |
| P15289 | Arylsulfatase A | |
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P16278 | Beta-galactosidase | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P22310 | UDP-glucuronosyltransferase 1A4 | |
| P30613 | Pyruvate kinase PKLR | |
| P33908 | Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA |
