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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 |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 811 | CALR | calreticulin | |
| 933 | CD22 | CD22 molecule | |
| 1118 | CHIT1 | chitinase 1 | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 2194 | FASN | fatty acid synthase | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2220 | FCN2 | ficolin 2 | |
| 2581 | GALC | galactosylceramidase |
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 |
