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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17405 | Sphingomyelin phosphodiesterase | |
| P61916 | NPC intracellular cholesterol transporter 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04519 | Sphingomyelin phosphodiesterase | |
| Q7TMD4 | Niemann Pick type C1 | |
| Q9Z0J0 | NPC intracellular cholesterol transporter 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34389 | NPC intracellular cholesterol transporter 1 homolog 2 | |
| Q19127 | NPC intracellular cholesterol transporter 1 homolog 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12200 | NPC intracellular sterol transporter 1-related protein 1 |
