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Niemann-Pick disease type B
Summary
- Definition
- A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070112
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P17405 | Sphingomyelin phosphodiesterase | |
| Q13231 | Chitotriosidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001971 | Hypersplenism |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002186 | Apraxia |
| HP:0002194 | Delayed gross motor development |
| HP:0002240 | Hepatomegaly |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002756 | Pathologic fracture |
