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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 |
|---|---|---|---|
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2817 | GPC1 | glypican 1 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3965 | LGALS9 | galectin 9 | |
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4864 | NPC1 | NPC intracellular cholesterol transporter 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| O95470 | Sphingosine-1-phosphate lyase 1 | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A | |
| P06734 | Low affinity immunoglobulin epsilon Fc receptor | |
| P07602 | Prosaposin | |
| P15289 | Arylsulfatase A | |
| P16278 | Beta-galactosidase | |
| P17405 | Sphingomyelin phosphodiesterase |
