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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 |
|---|---|---|---|
| 8435 | SOAT2 | sterol O-acyltransferase 2 | |
| 8513 | LIPF | lipase F, gastric type | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9415 | FADS2 | fatty acid desaturase 2 | |
| 10724 | OGA | O-GlcNAcase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 79153 | GDPD3 | glycerophosphodiester phosphodiesterase domain containing 3 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00462 | Beta-mannosidase | |
| O00767 | Stearoyl-CoA desaturase | |
| O43451 | Maltase-glucoamylase | |
| O60502 | Protein O-GlcNAcase | |
| O95864 | Acyl-CoA 6-desaturase | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A | |
| P06858 | Lipoprotein lipase |
