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
Displaying entries 21 - 30 of 40 in total
Gene ID Gene Symbol Description Source
4860 PNP purine nucleoside phosphorylase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5373 PMM2 phosphomannomutase 2
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
5973 RENBP renin binding protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024