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MIRAGE
hereditary spastic paraplegia
Summary
- Synonym
-
- French settlement disease
- Strumpell-Lorrain disease
- familial spastic paraplegia
- hereditary spastic paraparesis
- Definition
- A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
- Super Class
- paraplegia
External Links
- Disease Ontology
- DOID:2476
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3329 | HSPD1 | heat shock protein family D (Hsp60) member 1 | |
| 5832 | ALDH18A1 | aldehyde dehydrogenase 18 family member A1 | |
| 9907 | AP5Z1 | adaptor related protein complex 5 subunit zeta 1 | |
| 26580 | BSCL2 | BSCL2 lipid droplet biogenesis associated, seipin | |
| 79944 | L2HGDH | L-2-hydroxyglutarate dehydrogenase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43299 | AP-5 complex subunit zeta-1 | |
| P10809 | 60 kDa heat shock protein, mitochondrial | |
| P54886 | Delta-1-pyrroline-5-carboxylate synthase | |
| Q96G97 | Seipin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21576 | Vacuolar protein sorting-associated protein 1 | |
| Q99287 | Protein SEY1 |
