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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 410 | ARSA | arylsulfatase A | |
| 414 | ARSD | arylsulfatase D | |
| 847 | CAT | catalase | |
| 1576 | CYP3A4 | cytochrome P450 family 3 subfamily A member 4 | |
| 1591 | CYP24A1 | cytochrome P450 family 24 subfamily A member 1 | |
| 1946 | EFNA5 | ephrin A5 | |
| 2571 | GAD1 | glutamate decarboxylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ88 | Fructose-2,6-bisphosphatase TIGAR | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
