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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 |
|---|---|---|---|
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8277 | TKTL1 | transketolase like 1 | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 51102 | MECR | mitochondrial trans-2-enoyl-CoA reductase | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 57103 | TIGAR | TP53 induced glycolysis regulatory phosphatase | |
| 116285 | ACSM1 | acyl-CoA synthetase medium chain family member 1 | |
| 123876 | ACSM2A | acyl-CoA synthetase medium chain family member 2A | |
| 135228 | CD109 | CD109 molecule |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ88 | Fructose-2,6-bisphosphatase TIGAR | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
