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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:0003621 | Juvenile onset |
| HP:0002205 | Recurrent respiratory infections |
| HP:0011462 | Young adult onset |
| HP:0001903 | Anemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003609 | Foam cells with lamellar inclusion bodies |
| HP:0002829 | Arthralgia |
| HP:0011463 | Childhood onset |
| HP:0001982 | Sea-blue histiocytosis |
| HP:0001268 | Mental deterioration |
