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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:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007302 | Bipolar affective disorder |
| HP:0009830 | Peripheral neuropathy |
| HP:0010729 | Cherry red spot of the macula |
| HP:0012415 | Abnormal blood gas level |
| HP:0002094 | Dyspnea |
| HP:0003596 | Middle age onset |
| HP:0004333 | Bone-marrow foam cells |
| HP:0001103 | Abnormal macular morphology |
