Details of Disease

Disease Name

Juvenile-onset Parkinson disease

juvenile-onset Parkinson's disease

Definition

Editor notes: check onset axioms

Disease Hierarchy

DISQVHKL: Parkinson disease

DIS05LFS: Young-onset Parkinson disease

DISNT5BI: Juvenile-onset Parkinson disease

Disease Identifiers

MONDO ID

MONDO_0000828

MESH ID

D020734

UMLS CUI

C0752105

MedGen ID

155699

SNOMED CT ID

230291001

General Information of Disease (ID: DISNT5BI)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GSR	TTEP6RV	Limited	Therapeutic	[1]
NGF	TTDN3LF	Limited	Therapeutic	[2]
PRKCD	TT7A1BO	Limited	Therapeutic	[3]
PRL	TTJ2TSA	Limited	Biomarker	[4]
GCH1	TTLSWP6	moderate	Genetic Variation	[5]
DDC	TTN451K	Strong	Therapeutic	[6]
DRD2	TTEX248	Strong	Therapeutic	[7]
GBA	TT1B5PU	Strong	Biomarker	[8]
GDNF	TTF23ML	Strong	Therapeutic	[9]
LRRK2	TTK0FEA	Strong	Biomarker	[10]
MAPT	TTS87KH	Strong	Biomarker	[11]
PARP1	TTVDSZ0	Strong	Biomarker	[12]
SLC18A2	TTNZRI3	Strong	Therapeutic	[6]
SNCA	TT08OSU	Strong	Biomarker	[13]
TH	TTUHP71	Strong	Biomarker	[14]
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⏷ Show the Full List of 15 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	Strong	Biomarker	[15]
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This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALDH1A1	DE2JP1Y	Limited	Biomarker	[16]
ALDH1A2	DEKN1H4	Limited	Biomarker	[16]
PARK7	DEPOVCH	Strong	Biomarker	[10]
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This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDYN	OTEJ6430	Limited	Biomarker	[17]
PINK1	OT50NR57	Limited	Biomarker	[18]
PNOC	OTJEAADN	Limited	Biomarker	[19]
PRKRA	OTUTVZZU	Disputed	Biomarker	[20]
DCTN1	OT5B51FJ	moderate	Biomarker	[21]
ATP13A2	OTKWBUGK	Strong	Genetic Variation	[22]
ATP1A3	OTM8EG6H	Strong	Biomarker	[23]
DNAJB4	OTUD01BK	Strong	Genetic Variation	[24]
DNAJC6	OT1P6ZIE	Strong	Genetic Variation	[24]
FBXO7	OTGTN8TJ	Strong	Genetic Variation	[25]
HTRA2	OTC7616F	Strong	Biomarker	[10]
NIF3L1	OT4MP90J	Strong	Altered Expression	[26]
POLG	OTDUCT04	Strong	Biomarker	[27]
PRKN	OTJBN41W	Strong	Genetic Variation	[28]
RAB39B	OTDCLLT0	Strong	Genetic Variation	[29]
SPG11	OTZ7LJX4	Strong	Genetic Variation	[30]
SYNJ1	OTTE02XC	Strong	Genetic Variation	[31]
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⏷ Show the Full List of 17 DOT(s)

References

1	Protective role of glutathione reductase in paraquat induced neurotoxicity.Chem Biol Interact. 2012 Aug 30;199(2):74-86. doi: 10.1016/j.cbi.2012.05.008. Epub 2012 Jun 18.
2	Brain targeting of nerve growth factor using poly(butyl cyanoacrylate) nanoparticles.J Drug Target. 2009 Sep;17(8):564-74. doi: 10.1080/10611860903112842.
3	Blockade of PKCdelta proteolytic activation by loss of function mutants rescues mesencephalic dopaminergic neurons from methylcyclopentadienyl manganese tricarbonyl (MMT)-induced apoptotic cell death.Ann N Y Acad Sci. 2004 Dec;1035:271-89. doi: 10.1196/annals.1332.017.
4	Correlation between plasma levels of prolactin and chlorpromazine in psychiatric patients.Psychol Med. 1975 May;5(2):214-6. doi: 10.1017/s0033291700056488.
5	Parkin disease: a phenotypic study of a large case series.Brain. 2003 Jun;126(Pt 6):1279-92. doi: 10.1093/brain/awg142.
6	Vesicular monoamine transporter-2 and aromatic L-amino acid decarboxylase gene therapy prevents development of motor complications in parkinsonian rats after chronic intermittent L-3,4-dihydroxyphenylalanine administration.Exp Neurol. 2006 Jan;197(1):215-24. doi: 10.1016/j.expneurol.2005.09.012. Epub 2005 Nov 2.
7	Thiethylperazine-induced parkinsonism: in vivo demonstration of dopamine D2 receptors blockade.Eur J Neurol. 2004 Oct;11(10):709-10. doi: 10.1111/j.1468-1331.2004.00844.x.
8	Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.Mol Neurodegener. 2015 Mar 27;10:15. doi: 10.1186/s13024-015-0010-2.
9	Behavioral improvement and dopamine release in a Parkinsonian rat model. Neurosci Lett. 2002 Sep 13;330(1):5-8. doi: 10.1016/s0304-3940(02)00672-9.
10	Methylmercury can induce Parkinson's-like neurotoxicity similar to 1-methyl-4- phenylpyridinium: a genomic and proteomic analysis on MN9D dopaminergic neuron cells.J Toxicol Sci. 2015 Dec;40(6):817-28. doi: 10.2131/jts.40.817.
11	Familial aggregation of parkinsonism in progressive supranuclear palsy.Neurology. 2009 Jul 14;73(2):98-105. doi: 10.1212/WNL.0b013e3181a92bcc. Epub 2009 May 20.
12	Spatial and functional relationship between poly(ADP-ribose) polymerase-1 and poly(ADP-ribose) glycohydrolase in the brain.Neuroscience. 2007 Aug 10;148(1):198-211. doi: 10.1016/j.neuroscience.2007.04.062. Epub 2007 Jul 19.
13	Glucose Metabolism and AMPK Signaling Regulate Dopaminergic Cell Death Induced by Gene (-Synuclein)-Environment (Paraquat) Interactions.Mol Neurobiol. 2017 Jul;54(5):3825-3842. doi: 10.1007/s12035-016-9906-2. Epub 2016 Jun 20.
14	Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.Ann Hum Genet. 2000 Jan;64(Pt 1):25-31. doi: 10.1017/S0003480000007922.
15	Manganese-Induced Parkinsonism Is Not Idiopathic Parkinson's Disease: Environmental and Genetic Evidence.Toxicol Sci. 2015 Aug;146(2):204-12. doi: 10.1093/toxsci/kfv099.
16	Benomyl, aldehyde dehydrogenase, DOPAL, and the catecholaldehyde hypothesis for the pathogenesis of Parkinson's disease.Chem Res Toxicol. 2014 Aug 18;27(8):1359-61. doi: 10.1021/tx5002223. Epub 2014 Jul 24.
17	Differential regulation of striatal preproenkephalin and preprotachykinin mRNA levels in MPTP-lesioned monkeys chronically treated with dopamine D1 or D2 receptor agonists.J Neurochem. 1999 Feb;72(2):682-92. doi: 10.1046/j.1471-4159.1999.0720682.x.
18	Monitoring Mitochondrial Changes by Alteration of the PINK1-Parkin Signaling in Drosophila.Methods Mol Biol. 2018;1759:47-57. doi: 10.1007/7651_2017_9.
19	Nociceptin/Orphanin FQ Inhibits the Survival and Axon Growth of Midbrain Dopaminergic Neurons Through a p38-MAPK Dependent Mechanism.Mol Neurobiol. 2016 Dec;53(10):7284-7297. doi: 10.1007/s12035-015-9611-6. Epub 2015 Dec 21.
20	DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1.
21	DCTN1 mutations in Perry syndrome.Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11.
22	Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.Neurocase. 2019 Jun-Aug;25(3-4):133-137. doi: 10.1080/13554794.2019.1625928. Epub 2019 Jun 24.
23	Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028.
24	DNAJC6 promotes hepatocellular carcinoma progression through induction of epithelial-mesenchymal transition.Biochem Biophys Res Commun. 2014 Dec 12;455(3-4):298-304. doi: 10.1016/j.bbrc.2014.11.011. Epub 2014 Nov 13.
25	A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.Parkinsonism Relat Disord. 2014 Nov;20(11):1248-52. doi: 10.1016/j.parkreldis.2014.06.024. Epub 2014 Jul 22.
26	GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism.Neurosci Lett. 1995 May 5;190(2):140-2. doi: 10.1016/0304-3940(95)11511-t.
27	Alpers syndrome with prominent white matter changes.Brain Dev. 2008 Apr;30(4):295-300. doi: 10.1016/j.braindev.2007.08.009. Epub 2007 Oct 17.
28	Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.J Neurol Sci. 2018 Oct 15;393:27-30. doi: 10.1016/j.jns.2018.07.020. Epub 2018 Jul 24.
29	A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.Mov Disord. 2016 Dec;31(12):1905-1909. doi: 10.1002/mds.26828.
30	Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.
31	A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.J Mol Neurosci. 2018 Oct;66(2):273-278. doi: 10.1007/s12031-018-1167-2. Epub 2018 Sep 5.