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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Niemann-Pick disease
Summary
- Synonym
-
- Sphingomyelinase Deficiency Disease
- lipoid histiocytosis
- sphingomyelin lipidosis
- Definition
- A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
- Super Class
- sphingolipidosis
External Links
- Disease Ontology
- DOID:14504
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5660 | PSAP | prosaposin | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 6610 | SMPD2 | sphingomyelin phosphodiesterase 2 | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 10724 | OGA | O-GlcNAcase | |
| 10924 | SMPDL3A | sphingomyelin phosphodiesterase acid like 3A | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 132789 | GNPDA2 | glucosamine-6-phosphate deaminase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20273 | B-cell receptor CD22 | |
| P27797 | Calreticulin | |
| P35052 | Glypican-1 | |
| P35475 | Alpha-L-iduronidase | |
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase | |
| P49327 | Fatty acid synthase | |
| P50416 | Carnitine O-palmitoyltransferase 1, liver isoform | |
| P54803 | Galactocerebrosidase | |
| Q13231 | Chitotriosidase-1 | |
| Q15485 | Ficolin-2 |
