Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Niemann-Pick disease type A
Summary
- Definition
- A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues 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:0070111
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P17405 | Sphingomyelin phosphodiesterase | |
| Q13231 | Chitotriosidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000991 | Xanthomatosis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001538 | Protuberant abdomen |
| HP:0004333 | Bone-marrow foam cells |
| HP:0001982 | Sea-blue histiocytosis |
| HP:0001263 | Global developmental delay |
| HP:0002305 | Athetosis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0001744 | Splenomegaly |
| HP:0003609 | Foam cells with lamellar inclusion bodies |
