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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
lipid storage disease
Summary
- Synonym
-
- Lipoid storage diseas
- inborn lipid storage disorder
- lipoidosis
- Definition
- A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
- Super Class
- lysosomal storage disease
External Links
- Disease Ontology
- DOID:9455
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2548 | GAA | alpha glucosidase | |
| 2581 | GALC | galactosylceramidase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q13510 | Acid ceramidase | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q7L5L3 | Lysophospholipase D GDPD3 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
