Details of Disease

Disease Name

Cerebral palsy

infantile cerebral palsy

Definition

A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.

Disease Hierarchy

DISH9EST: Palsy

DISV1JEM: Subcutaneous fat disorder

DIS82ODL: Cerebral palsy

Disease Identifiers

MONDO ID

MONDO_0006497

MESH ID

D002547

UMLS CUI

C0007789

MedGen ID

854

HPO ID

HP:0100021

SNOMED CT ID

128188000

General Information of Disease (ID: DIS82ODL)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAD1	TTKGEP3	Limited	Genetic Variation	[1]
AIF1	TT12MEP	moderate	Biomarker	[2]
SLC12A5	TTH6UZY	moderate	Altered Expression	[3]
ADCY5	TTN64VU	Strong	Biomarker	[4]
F5	TT1O264	Strong	Genetic Variation	[5]
FGR	TTPOGS1	Strong	Biomarker	[6]
GCH1	TTLSWP6	Strong	Genetic Variation	[7]
HAL	TTXQOZW	Strong	Biomarker	[8]
KDM5C	TT94UCF	Strong	Biomarker	[9]
MAGEA3	TTWSKHD	Strong	Biomarker	[10]
MECP2	TTTAU9R	Strong	Genetic Variation	[11]
POMC	TT21AKM	Strong	Altered Expression	[12]
TKTL1	TTNQ1J3	Strong	Altered Expression	[13]
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⏷ Show the Full List of 13 DTT(s)

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GMDS	DE8K7F3	Strong	Biomarker	[14]
MMEL1	DEYCUQ2	Strong	Biomarker	[15]
SPR	DEJVDAT	Strong	Biomarker	[4]
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This Disease Is Related to 45 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACSM1	OT1TS9M9	Limited	Genetic Variation	[16]
RFX2	OTK6VQ1B	Limited	Autosomal dominant	[17]
TENM1	OTSKSU4V	Limited	X-linked	[17]
TOMM40	OTZDQ29F	Limited	Genetic Variation	[18]
ADD3	OTDRSHAZ	moderate	Genetic Variation	[19]
ACSM2A	OTML8QW4	Strong	Genetic Variation	[20]
AP4B1	OTGJUIRA	Strong	Biomarker	[21]
AP4E1	OT4DUNVU	Strong	Genetic Variation	[22]
AP4M1	OT2BG2Z3	Strong	Genetic Variation	[23]
AP4S1	OTM3QBU8	Strong	Genetic Variation	[24]
APH1A	OT97F1TU	Strong	Altered Expression	[25]
ARSD	OTAHW9M8	Strong	Biomarker	[26]
ATRNL1	OTY5JUX2	Strong	Genetic Variation	[27]
CAVIN2	OTFHHDRU	Strong	Altered Expression	[28]
COL4A1	OTL6D1YE	Strong	Biomarker	[29]
DCD	OTV5PBGJ	Strong	Biomarker	[30]
DMRT3	OTNV7F7Q	Strong	Biomarker	[31]
DUSP22	OTEZ3U85	Strong	Biomarker	[32]
EFNA5	OTOH4DRR	Strong	Biomarker	[33]
EIF3K	OTGTKVGO	Strong	Altered Expression	[34]
GDF10	OTEVXGJ7	Strong	Genetic Variation	[35]
GRIN3A	OTQS9GYY	Strong	Biomarker	[36]
HYLS1	OT3SW5UC	Strong	Biomarker	[37]
MCF2L	OTEURA8N	Strong	Biomarker	[38]
MLEC	OTOPGRF5	Strong	Genetic Variation	[39]
MOCS2	OTSPV7AX	Strong	Genetic Variation	[40]
NANOS2	OTFM2IDJ	Strong	Genetic Variation	[41]
NEB	OT7P9IR3	Strong	Biomarker	[42]
OLIG2	OTMCN6D3	Strong	Genetic Variation	[43]
PAK3	OT80M3BV	Strong	Genetic Variation	[44]
PDHA1	OTGEU8IK	Strong	Biomarker	[4]
PIF1	OTUHKKVP	Strong	Biomarker	[30]
PLP1	OT8CM9CX	Strong	Genetic Variation	[45]
PLXNB1	OTCA7JIT	Strong	Biomarker	[15]
PRH1	OTQZ6HX0	Strong	Biomarker	[46]
RBM33	OT4JQ9YG	Strong	Biomarker	[47]
REPIN1	OTVTPXNX	Strong	Genetic Variation	[21]
RIN2	OTCY73U9	Strong	Genetic Variation	[48]
SEPTIN10	OTPPNZUA	Strong	Biomarker	[49]
SFPQ	OTLCIAPJ	Strong	Altered Expression	[25]
SIAH2	OTKED2XN	Strong	Altered Expression	[50]
STN1	OT8UWRA3	Strong	Genetic Variation	[51]
TDRD9	OTS4UBI8	Strong	Biomarker	[37]
TFAP4	OT1KQIUX	Strong	Genetic Variation	[21]
TIGAR	OTR7NMRJ	Strong	Genetic Variation	[52]
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⏷ Show the Full List of 45 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	Developmental motor deficits induced by combined fetal exposure to lipopolysaccharide and early neonatal hypoxia/ischemia: a novel animal model for cerebral palsy in very premature infants.Neuroscience. 2009 Jan 23;158(2):673-82. doi: 10.1016/j.neuroscience.2008.10.032. Epub 2008 Oct 30.
3	Mild Intrauterine Hypoperfusion Leads to Lumbar and Cortical Hyperexcitability, Spasticity, and Muscle Dysfunctions in Rats: Implications for Prematurity.Front Neurol. 2018 Jun 15;9:423. doi: 10.3389/fneur.2018.00423. eCollection 2018.
4	The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14.
5	Factor V Leiden mutation: a contributory factor for cerebral palsy?.Dev Med Child Neurol. 2006 Jan;48(1):14-9. doi: 10.1017/S0012162206000053.
6	Twins and neurodevelopmental outcomes: the effect of IVF, fetal growth restriction, and preterm birth.J Matern Fetal Neonatal Med. 2019 Jul;32(13):2256-2261. doi: 10.1080/14767058.2018.1425834. Epub 2018 Jan 16.
7	Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.J Korean Med Sci. 2011 Sep;26(9):1244-6. doi: 10.3346/jkms.2011.26.9.1244. Epub 2011 Sep 1.
8	Feasibility and safety of Robot Suit HAL treatment for adolescents and adults with cerebral palsy.J Clin Neurosci. 2019 Oct;68:101-104. doi: 10.1016/j.jocn.2019.07.026. Epub 2019 Jul 20.
9	Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10.
10	Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure.Am J Obstet Gynecol. 2008 May;198(5):509.e1-8. doi: 10.1016/j.ajog.2008.02.027.
11	Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.Brain Dev. 2010 Nov;32(10):843-8. doi: 10.1016/j.braindev.2009.11.007. Epub 2009 Dec 23.
12	Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.Eur J Pediatr. 2013 Oct;172(10):1407-10. doi: 10.1007/s00431-013-2044-1. Epub 2013 May 26.
13	Expression of transketolase-like gene 1 (TKTL1) depends on disease phase in patients with chronic myeloid leukaemia (CML).J Cancer Res Clin Oncol. 2014 Mar;140(3):411-7. doi: 10.1007/s00432-013-1579-x. Epub 2014 Jan 5.
14	Risk of neurodevelopmental impairment for outborn extremely preterm infants in an Australian regional network.J Matern Fetal Neonatal Med. 2017 Jan;30(1):96-102. doi: 10.3109/14767058.2016.1163675. Epub 2016 Jun 1.
15	Bedside neurophysiological tests can identify neonates with stroke leading to cerebral palsy.Clin Neurophysiol. 2019 May;130(5):759-766. doi: 10.1016/j.clinph.2019.02.017. Epub 2019 Mar 15.
16	Evidence of Construct Validity for the Modified Mental Fatigue Scale When Used in Persons with Cerebral Palsy.Dev Neurorehabil. 2020 May;23(4):240-252. doi: 10.1080/17518423.2019.1645227. Epub 2019 Aug 12.
17	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
18	Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E.Acta Paediatr. 2015 Jul;104(7):701-6. doi: 10.1111/apa.12983. Epub 2015 Mar 27.
19	Mutations in adducin are associated with inherited cerebral palsy. Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.
20	Effect of the severity of manual impairment and hand dominance on anticipatory and compensatory postural adjustments during manual reaching in children with cerebral palsy.Res Dev Disabil. 2018 Dec;83:47-56. doi: 10.1016/j.ridd.2018.08.007. Epub 2018 Aug 21.
21	Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.Mol Biol Rep. 2013 Nov;40(11):6459-67. doi: 10.1007/s11033-013-2761-6. Epub 2013 Sep 25.
22	Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.
23	A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.BMC Med Genet. 2014 Dec 14;15:133. doi: 10.1186/s12881-014-0133-2.
24	Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.Eur J Neurol. 2016 Oct;23(10):1580-7. doi: 10.1111/ene.13085. Epub 2016 Jul 22.
25	Improving Health-related Quality of Life for Patients With Nonambulatory Cerebral Palsy: Who Stands to Gain From Scoliosis Surgery?.J Pediatr Orthop. 2020 Mar;40(3):e186-e192. doi: 10.1097/BPO.0000000000001424.
26	Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.Transl Psychiatry. 2018 Apr 23;8(1):88. doi: 10.1038/s41398-018-0136-4.
27	Oral administration of Nigella sativa oil and thymoquinone attenuates long term cisplatin treatment induced toxicity and oxidative damage in rat kidney.Biomed Pharmacother. 2017 Dec;96:912-923. doi: 10.1016/j.biopha.2017.12.007. Epub 2017 Dec 7.
28	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.
29	Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Clin Genet. 2016 Aug;90(2):149-55. doi: 10.1111/cge.12723. Epub 2016 Feb 9.
30	Proteolysis-inducing factor core peptide mediates dermcidin-induced proliferation of hepatic cells through multiple signalling networks.Int J Oncol. 2011 Sep;39(3):709-18. doi: 10.3892/ijo.2011.1064. Epub 2011 Jun 3.
31	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.
32	Genome-wide DNA methylation profiles according to Chlamydophila psittaci infection and the response to doxycycline treatment in ocular adnexal lymphoma.Mol Vis. 2014 Jul 19;20:1037-47. eCollection 2014.
33	A Model of Perinatal Ischemic Stroke in the Rat: 20 Years Already and What Lessons?.Front Neurol. 2018 Aug 7;9:650. doi: 10.3389/fneur.2018.00650. eCollection 2018.
34	Transcriptional abnormalities of hamstring muscle contractures in children with cerebral palsy.PLoS One. 2012;7(8):e40686. doi: 10.1371/journal.pone.0040686. Epub 2012 Aug 16.
35	Bone Morphogenetic Protein (BMP)-3b Gene Depletion Causes High Mortality in a Mouse Model of Neonatal Hypoxic-Ischemic Encephalopathy.Front Neurol. 2018 Jun 5;9:397. doi: 10.3389/fneur.2018.00397. eCollection 2018.
36	Association of polymorphisms in neuroprotection and oxidative stress genes and neurodevelopmental outcomes after preterm birth.Obstet Gynecol. 2012 Sep;120(3):542-50. doi: 10.1097/AOG.0b013e318265f232.
37	Percutaneous Hamstring Lengthening Surgery is as Effective as Open Lengthening in Children With Cerebral Palsy.J Pediatr Orthop. 2019 Aug;39(7):366-371. doi: 10.1097/BPO.0000000000000924.
38	Deep brain stimulation in cerebral palsy: Challenges and opportunities.Eur J Paediatr Neurol. 2017 Jan;21(1):118-121. doi: 10.1016/j.ejpn.2016.05.015. Epub 2016 May 27.
39	Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization.Clin Genet. 2018 Apr;93(4):794-799. doi: 10.1111/cge.13149. Epub 2018 Jan 25.
40	Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis.Pediatr Neurol. 2012 Aug;47(2):147-9. doi: 10.1016/j.pediatrneurol.2012.04.013.
41	Association Between rs3833912/rs16944 SNPs and Risk for Cerebral Palsy in Mexican Children.Mol Neurobiol. 2019 Mar;56(3):1800-1811. doi: 10.1007/s12035-018-1178-6. Epub 2018 Jun 21.
42	Stiffness of hip adductor myofibrils is decreased in children with spastic cerebral palsy.J Biomech. 2019 Apr 18;87:100-106. doi: 10.1016/j.jbiomech.2019.02.023. Epub 2019 Feb 28.
43	Variants of the OLIG2 Gene are Associated with Cerebral Palsy in Chinese Han Infants with Hypoxic-Ischemic Encephalopathy.Neuromolecular Med. 2019 Mar;21(1):75-84. doi: 10.1007/s12017-018-8510-1. Epub 2018 Sep 3.
44	A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.Eur J Med Genet. 2017 Apr;60(4):212-216. doi: 10.1016/j.ejmg.2017.01.004. Epub 2017 Jan 24.
45	Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.J Korean Med Sci. 2008 Apr;23(2):328-31. doi: 10.3346/jkms.2008.23.2.328.
46	Sodium butyrate ameliorates Corynebacterium pseudotuberculosis infection in RAW264.7 macrophages and C57BL/6 mice.Microb Pathog. 2019 Jun;131:144-149. doi: 10.1016/j.micpath.2019.04.008. Epub 2019 Apr 6.
47	Immune responses to recombinant Brugia malayi pepsin inhibitor homolog (Bm-33) in patients with human lymphatic filariaisis.Parasitol Res. 2011 Feb;108(2):407-15. doi: 10.1007/s00436-010-2081-x. Epub 2010 Oct 7.
48	Hand Motor Actions of Children With Cerebral Palsy Are Associated With Abnormal Sensorimotor Cortical Oscillations.Neurorehabil Neural Repair. 2019 Dec;33(12):1018-1028. doi: 10.1177/1545968319883880. Epub 2019 Nov 2.
49	Long-term molecular and cytogenetic response and survival outcomes with imatinib 400 mg, imatinib 800 mg, dasatinib, and nilotinib in patients with chronic-phase chronic myeloid leukaemia: retrospective analysis of patient data from five clinical trials.Lancet Haematol. 2015 Mar;2(3):e118-28. doi: 10.1016/S2352-3026(15)00021-6. Epub 2015 Mar 20.
50	Inhibition of Siah2 Ubiquitin Ligase by Vitamin K3 Attenuates Chronic Myeloid Leukemia Chemo-Resistance in Hypoxic Microenvironment.Med Sci Monit. 2018 Feb 5;24:727-735. doi: 10.12659/msm.908553.
51	Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome.Front Mol Biosci. 2019 Jun 12;6:41. doi: 10.3389/fmolb.2019.00041. eCollection 2019.
52	Validation of Demographics, Etiology, and Risk Factors for Chronic Pancreatitis in the USA: A Report of the North American Pancreas Study (NAPS) Group.Dig Dis Sci. 2017 Aug;62(8):2133-2140. doi: 10.1007/s10620-017-4621-z. Epub 2017 Jun 9.