Details of Disease | DrugMAP

General Information of Disease (ID: DISBJRHC)

Disease Name	Spastic quadriplegic cerebral palsy
Synonyms	inherited congenital spastic tetraplegia; spastic quadriplegic cerebral palsy; tetraplegic infantile cerebral palsy; spastic quadriplegia; inherited congenital spastic quadriplegia; spastic tetraplegia cerebral palsy; quadriplegic infantile cerebral palsy
Definition	A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISORE14: Spastic cerebral palsy DISBJRHC: Spastic quadriplegic cerebral palsy
Disease Identifiers	MONDO ID MONDO_0016215 MESH ID D011782 UMLS CUI C0426970 MedGen ID 98433 HPO ID HP:0002510 Orphanet ID 210141 SNOMED CT ID 192965001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAD1	TTKGEP3	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADD3	OTDRSHAZ	Supportive	Autosomal recessive	[2]
GAD1	OT52Z39J	Supportive	Autosomal recessive	[1]
KANK1	OT2E7A6W	Supportive	Autosomal recessive	[3]
AP4B1	OTGJUIRA	Strong	Genetic Variation	[4]
CAVIN2	OTFHHDRU	Strong	Altered Expression	[5]
PMP22	OTXWYWCZ	Strong	Biomarker	[6]
TBCD	OTS4JKNQ	Strong	Biomarker	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol. 2004 Nov 30;4(1):20. doi: 10.1186/1471-2377-4-20.
2	Mutations in adducin are associated with inherited cerebral palsy. Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.
3	Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. doi: 10.1093/hmg/ddi415. Epub 2005 Nov 21.
4	An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30.
5	Whether the newly modified rhizotomy protocol is applicable to guide single-level approach SDR to treat spastic quadriplegia and diplegia in pediatric patients with cerebral palsy?.Childs Nerv Syst. 2020 Sep;36(9):1935-1943. doi: 10.1007/s00381-019-04368-w. Epub 2019 Sep 9.
6	Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.Neurology. 2002 Nov 12;59(9):1470-1. doi: 10.1212/01.wnl.0000032505.45389.94.
7	Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.