Details of Disease

General Information of Disease (ID: DISORE14)

Disease Name Spastic cerebral palsy
Synonyms hypertonic cerebral palsy
Definition A form of cerebral palsy wherein spasticity is the exclusive impairment present.
Disease Hierarchy
DIS82ODL: Cerebral palsy
DISORE14: Spastic cerebral palsy
Disease Identifiers
MONDO ID
MONDO_0000396
UMLS CUI
C0338596
MedGen ID
137905
SNOMED CT ID
230773005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RIN2 OTCY73U9 moderate Genetic Variation [1]
DMRT3 OTNV7F7Q Strong Biomarker [2]
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References

1 Using diffusion tensor imaging to identify corticospinal tract projection patterns in children with unilateral spastic cerebral palsy.Dev Med Child Neurol. 2017 Jan;59(1):65-71. doi: 10.1111/dmcn.13192. Epub 2016 Jul 27.
2 Identification of a candidate enhancer for DMRT3 involved in spastic cerebral palsy pathogenesis.Biochem Biophys Res Commun. 2018 Jan 29;496(1):133-139. doi: 10.1016/j.bbrc.2018.01.011. Epub 2018 Jan 3.