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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
spastic quadriplegic cerebral palsy
Summary
- Synonym
-
- inherited congenital spastic quadriplegia
- inherited congenital spastic tetraplegia
- quadriplegic infantile cerebral palsy
- spastic quadriplegia
- tetraplegic infantile cerebral palsy
- Definition
- A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking.
- Super Class
- spastic cerebral palsy
External Links
- Disease Ontology
- DOID:10970
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2639 | GCDH | glutaryl-CoA dehydrogenase | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 2762 | GMDS | GDP-mannose 4,6-dehydratase | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4360 | MRC1 | mannose receptor C-type 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11226 | Mannose-binding protein C | |
| P15104 | Glutamine synthetase | |
| P15289 | Arylsulfatase A | |
| P22303 | Acetylcholinesterase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P22897 | Macrophage mannose receptor 1 | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P35475 | Alpha-L-iduronidase | |
| P35610 | Sterol O-acyltransferase 1 |
