MCID: ERL056
MIFTS: 40

Early-Onset Parkinson's Disease

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Parkinson's Disease

MalaCards integrated aliases for Early-Onset Parkinson's Disease:

Name: Early-Onset Parkinson's Disease 12 15
Early-Onset Parkinson Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060894

Summaries for Early-Onset Parkinson's Disease

MalaCards based summary : Early-Onset Parkinson's Disease, also known as early-onset parkinson disease, is related to parkinson disease 6, autosomal recessive early-onset and parkinson disease 15, autosomal recessive early-onset. An important gene associated with Early-Onset Parkinson's Disease is PINK1 (PTEN Induced Kinase 1), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Early-Onset Parkinson's Disease

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Early-Onset Parkinson's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 6, autosomal recessive early-onset 32.5 PINK1 PARK7
2 parkinson disease 15, autosomal recessive early-onset 32.0 SNCA PRKN ATP13A2
3 parkinson disease 2, autosomal recessive juvenile 31.3 VPS13C SNCA PRKN PINK1 PARK7 LRRK2
4 postencephalitic parkinson disease 30.0 SNCA LRRK2
5 essential tremor 29.9 SNCA PRKN LRRK2
6 tremor 29.5 SNCA PRKN LRRK2 GBA
7 dementia 28.7 SNCA PRKN PARK7 LRRK2 GBA ATP13A2
8 movement disease 28.5 SNCA PRKN PINK1 PARK7 LRRK2 GCH1
9 parkinson disease, late-onset 27.5 VPS13C SYNJ1 SNCA RAB39B PRKN PINK1
10 parkin type of early-onset parkinson disease 12.5
11 parkinson disease 19a, juvenile-onset 11.5
12 parkinson disease 7, autosomal recessive early-onset 11.4
13 parkinson disease 20, early-onset 11.4
14 parkinson disease 23, autosomal recessive early-onset 11.4
15 waisman syndrome 11.3
16 muscular dystrophy, congenital, megaconial type 10.2 PRKN PINK1
17 digeorge syndrome 10.1
18 depression 10.1
19 atypical juvenile parkinsonism 10.0 SYNJ1 DNAJC6
20 rem sleep behavior disorder 10.0 SNCA LRRK2
21 dysautonomia 10.0 SNCA GBA
22 multiple system atrophy 1 10.0 SNCA PRKN LRRK2
23 alacrima, achalasia, and mental retardation syndrome 9.9
24 multiple sclerosis 9.9
25 hyperphenylalaninemia, bh4-deficient, b 9.9
26 dystonia 9.9
27 eating disorder 9.9
28 leprosy 3 9.9 LRRK2 PRKN
29 hereditary late-onset parkinson disease 9.9 SNCA LRRK2 GBA
30 gaucher's disease 9.9 SNCA PRKN GBA
31 corticobasal degeneration 9.9 LRRK2 GBA
32 parkinson disease 3, autosomal dominant 9.9 SNCA PRKN PARK7 LRRK2
33 hemidystonia 9.9 SNCA GCH1
34 supranuclear palsy, progressive, 1 9.8 SNCA PRKN PARK7 LRRK2
35 central nervous system disease 9.8 SNCA PRKN PINK1 LRRK2
36 juvenile-onset parkinson's disease 9.8 DNAJC6 ATP13A2
37 parkinson disease 10 9.7 SNCA PRKN PINK1 PARK7 LRRK2
38 nervous system disease 9.7 SNCA PRKN PINK1 PARK7 LRRK2
39 dementia, lewy body 9.6 SNCA PRKN PARK7 LRRK2 GBA
40 synucleinopathy 8.9 SNCA PRKN PINK1 PARK7 LRRK2 GBA

Graphical network of the top 20 diseases related to Early-Onset Parkinson's Disease:



Diseases related to Early-Onset Parkinson's Disease

Symptoms & Phenotypes for Early-Onset Parkinson's Disease

MGI Mouse Phenotypes related to Early-Onset Parkinson's Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN
2 nervous system MP:0003631 9.32 ATP13A2 DNAJC6 GBA GCH1 LRRK2 PARK7

Drugs & Therapeutics for Early-Onset Parkinson's Disease

Drugs for Early-Onset Parkinson's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Consortium On Risk for Early-onset Parkinson's Disease (CORE PD) Unknown status NCT00104585
2 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
3 Chinese EOPD Registry Recruiting NCT03508960
4 Kick Out Parkinson's Disease 2 Active, not recruiting NCT03882879 Not Applicable
5 Mutations Associated With Parkinson s Disease Terminated NCT01547832
6 Hereditary Parkinson s Disease Natural History Protocol Completed NCT02511015
7 The Effect of Kinesiophobia on Physical Activity, Balance and Falling in Parkinson's Disease Patients Enrolling by invitation NCT03827746
8 Ultra High Field Magnetic Resonance Imaging as a Biomarker for Premotor Parkinson's Disease Recruiting NCT03288909
9 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
10 Parkinson's Families Project Recruiting NCT02760108

Search NIH Clinical Center for Early-Onset Parkinson's Disease

Genetic Tests for Early-Onset Parkinson's Disease

Anatomical Context for Early-Onset Parkinson's Disease

MalaCards organs/tissues related to Early-Onset Parkinson's Disease:

42
Skin, Brain, Testes

Publications for Early-Onset Parkinson's Disease

Articles related to Early-Onset Parkinson's Disease:

(show top 50) (show all 131)
# Title Authors Year
1
Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease. ( 30502028 )
2019
2
Utility and implications of exome sequencing in early-onset Parkinson's disease. ( 30537300 )
2019
3
Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease: A case report. ( 30702579 )
2019
4
Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation. ( 29606608 )
2018
5
Quantitative Analysis of Catecholamines in the Pink1 -/- Rat Model of Early-onset Parkinson's Disease. ( 29496635 )
2018
6
Novel compound heterozygous mutations in the <i>PARK2</i> gene identified in a Chinese pedigree with early-onset Parkinson's disease. ( 29568695 )
2018
7
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. ( 28862745 )
2018
8
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease. ( 29655942 )
2018
9
Abnormal visual gain control and excitotoxicity in early-onset Parkinson's disease Drosophila models. ( 29142100 )
2018
10
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease. ( 30232368 )
2018
11
Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population. ( 30373961 )
2018
12
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction. ( 30338296 )
2018
13
Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. ( 29577677 )
2018
14
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population. ( 28913705 )
2017
15
Associations among Cognitive Functions, Plasma DNA, and White Matter Integrity in Patients with Early-Onset Parkinson's Disease. ( 28174514 )
2017
16
Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. ( 28256260 )
2017
17
Epigenetic approach to early-onset Parkinson's disease: low methylation status of SNCA and PARK2 promoter regions. ( 28830306 )
2017
18
The patterns of EEG changes in early-onset Parkinson's disease patients. ( 28281852 )
2017
19
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report. ( 28789629 )
2017
20
Adenosine A<sub>1</sub>-A<sub>2A</sub> Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease. ( 29213228 )
2017
21
Mild Cognitive Impairment in Patients with Early-Onset Parkinson's Disease. ( 27467581 )
2016
22
Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease. ( 27036214 )
2016
23
DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population. ( 27687717 )
2016
24
Abnormal brain temperature in early-onset Parkinson's disease. ( 26873586 )
2016
25
Neurocognitive &amp;amp; neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings. ( 26855076 )
2016
26
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. ( 26528954 )
2016
27
The high prevalence of impulse control behaviors in patients with early-onset Parkinson's disease: A cross-sectional multicenter study. ( 27538621 )
2016
28
Early Onset Parkinson's disease due to DJ1 mutations: An Indian study. ( 27592010 )
2016
29
Early-onset Parkinson's Disease Associated with Chromosome 22q11.2 Deletion Syndrome. ( 26831029 )
2016
30
MRI evaluation of asymmetry of nigrostriatal damage in the early stage of early-onset Parkinson's disease. ( 25825242 )
2015
31
Epidemiology of early-onset Parkinson's disease in Finland. ( 26071818 )
2015
32
Altered protein expression pattern in skin fibroblasts from parkin-mutant early-onset Parkinson's disease patients. ( 26096686 )
2015
33
22q11.2 deletion syndrome presenting with early-onset Parkinson's disease. ( 26195290 )
2015
34
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. ( 26362251 )
2015
35
Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications. ( 24677602 )
2014
36
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study. ( 25226871 )
2014
37
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. ( 24831986 )
2014
38
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease. ( 25238391 )
2014
39
Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease. ( 25001314 )
2014
40
Perimenstrual Fluctuations in Two Siblings With Early-Onset Parkinson's Disease. ( 30363847 )
2014
41
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population. ( 24313877 )
2013
42
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. ( 23448517 )
2013
43
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. ( 24167364 )
2013
44
Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation. ( 24315198 )
2013
45
A Case of early onset Parkinson's disease after major stress. ( 23950648 )
2013
46
PARK2 gene mutations in early onset Parkinson's disease patients of South India. ( 22766139 )
2012
47
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. ( 22956510 )
2012
48
High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. ( 22777964 )
2012
49
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. ( 22427796 )
2012
50
Iowa Gambling Task in patients with early-onset Parkinson's disease: strategy analysis. ( 22526761 )
2012

Variations for Early-Onset Parkinson's Disease

Expression for Early-Onset Parkinson's Disease

Search GEO for disease gene expression data for Early-Onset Parkinson's Disease.

Pathways for Early-Onset Parkinson's Disease

Pathways related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 PARK7 PINK1 PRKN SNCA
2 11.97 ATP13A2 LRRK2 PARK7 PINK1 PRKN SNCA
3 10.95 LRRK2 PARK7 PINK1 PRKN SNCA
4 10.84 PARK7 PRKN SNCA

GO Terms for Early-Onset Parkinson's Disease

Cellular components related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.97 LRRK2 PARK7 PINK1 PRKN SNCA VPS13C
2 perinuclear region of cytoplasm GO:0048471 9.8 PARK7 PINK1 PRKN SNCA SYNJ1
3 axon GO:0030424 9.78 LRRK2 PARK7 PINK1 SNCA
4 lysosome GO:0005764 9.73 ATP13A2 GBA LRRK2 SNCA
5 vesicle GO:0031982 9.72 ATP13A2 DNAJC6 RAB39B
6 growth cone GO:0030426 9.69 LRRK2 PINK1 SNCA
7 postsynapse GO:0098794 9.63 LRRK2 SNCA SYNJ1
8 vesicle membrane GO:0012506 9.56 ATP13A2 SYNJ1
9 mitochondrial intermembrane space GO:0005758 9.54 PARK7 PINK1 SNCA
10 inclusion body GO:0016234 9.52 LRRK2 SNCA
11 mitochondrial outer membrane GO:0005741 9.46 LRRK2 PINK1 SNCA VPS13C
12 terminal bouton GO:0043195 9.43 LRRK2 SNCA SYNJ1
13 neuron projection GO:0043005 9.43 ATP13A2 LRRK2 PARK7 PRKN RAB39B SYNJ1
14 Lewy body GO:0097413 9.32 PINK1 PRKN
15 presynapse GO:0098793 9.02 DNAJC6 PARK7 PRKN SNCA SYNJ1
16 cytosol GO:0005829 10.19 DNAJC6 GCH1 LRRK2 PARK7 PINK1 PRKN

Biological processes related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.89 PARK7 PINK1 PRKN
2 response to oxidative stress GO:0006979 9.88 LRRK2 PINK1 PRKN
3 negative regulation of neuron apoptotic process GO:0043524 9.88 PARK7 PINK1 PRKN SNCA
4 membrane organization GO:0061024 9.87 DNAJC6 SNCA SYNJ1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.84 PARK7 PINK1 SNCA
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 GBA LRRK2 PRKN
7 regulation of autophagy GO:0010506 9.82 LRRK2 PRKN RAB39B
8 autophagy GO:0006914 9.8 LRRK2 PARK7 PINK1 PRKN RAB39B
9 adult locomotory behavior GO:0008344 9.78 PARK7 PRKN SNCA
10 negative regulation of protein phosphorylation GO:0001933 9.76 LRRK2 PARK7 PRKN SNCA
11 autophagy of mitochondrion GO:0000422 9.73 PINK1 PRKN
12 activation of protein kinase B activity GO:0032148 9.73 PARK7 PINK1
13 regulation of canonical Wnt signaling pathway GO:0060828 9.73 LRRK2 PRKN
14 synaptic vesicle endocytosis GO:0048488 9.73 SNCA SYNJ1
15 regulation of dopamine secretion GO:0014059 9.72 PRKN SNCA
16 negative regulation of JNK cascade GO:0046329 9.72 PINK1 PRKN
17 positive regulation of protein dephosphorylation GO:0035307 9.72 GBA PINK1
18 response to interferon-gamma GO:0034341 9.72 GCH1 SNCA
19 regulation of neuron apoptotic process GO:0043523 9.71 PARK7 PINK1
20 negative regulation of reactive oxygen species metabolic process GO:2000378 9.71 PINK1 PRKN
21 regulation of neurotransmitter secretion GO:0046928 9.71 PRKN SNCA
22 regulation of neuron death GO:1901214 9.71 LRRK2 SNCA
23 regulation of autophagy of mitochondrion GO:1903146 9.71 ATP13A2 PINK1
24 regulation of mitochondrial membrane potential GO:0051881 9.71 PARK7 PINK1 PRKN
25 regulation of protein ubiquitination GO:0031396 9.7 PINK1 PRKN
26 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.7 LRRK2 PARK7
27 regulation of reactive oxygen species metabolic process GO:2000377 9.7 PINK1 PRKN SNCA
28 dopamine metabolic process GO:0042417 9.69 PRKN SNCA
29 positive regulation of mitochondrial fission GO:0090141 9.69 PINK1 PRKN
30 synaptic vesicle transport GO:0048489 9.69 SNCA SYNJ1
31 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PARK7 PRKN
32 cellular response to dopamine GO:1903351 9.68 LRRK2 PRKN
33 negative regulation of autophagosome assembly GO:1902902 9.68 LRRK2 PINK1
34 negative regulation of macroautophagy GO:0016242 9.68 LRRK2 PINK1
35 negative regulation of oxidative stress-induced neuron death GO:1903204 9.68 PARK7 PINK1
36 dopamine biosynthetic process GO:0042416 9.67 GCH1 SNCA
37 regulation of locomotion GO:0040012 9.67 LRRK2 SNCA
38 synaptic transmission, dopaminergic GO:0001963 9.67 PARK7 PRKN SNCA
39 cellular response to toxic substance GO:0097237 9.66 PINK1 PRKN
40 positive regulation of autophagy of mitochondrion GO:1903599 9.66 PARK7 PRKN
41 protein localization to mitochondrion GO:0070585 9.65 LRRK2 PRKN
42 regulation of protein targeting to mitochondrion GO:1903214 9.65 PINK1 PRKN
43 regulation of mitochondrion organization GO:0010821 9.65 ATP13A2 PINK1 PRKN
44 cellular response to oxidative stress GO:0034599 9.65 ATP13A2 LRRK2 PARK7 PINK1 SNCA
45 positive regulation of histone deacetylase activity GO:1901727 9.64 LRRK2 PINK1
46 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.63 GBA PINK1
47 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.63 PINK1 PRKN
48 regulation of cellular response to oxidative stress GO:1900407 9.62 PINK1 PRKN
49 synaptic vesicle uncoating GO:0016191 9.62 DNAJC6 SYNJ1
50 zinc ion homeostasis GO:0055069 9.61 ATP13A2 PRKN

Molecular functions related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 ATP13A2 DNAJC6 GBA GCH1 PARK7 SYNJ1
2 SH3 domain binding GO:0017124 9.5 DNAJC6 PRKN SYNJ1
3 clathrin binding GO:0030276 9.43 DNAJC6 LRRK2
4 Hsp70 protein binding GO:0030544 9.4 PRKN SNCA
5 ubiquitin-specific protease binding GO:1990381 9.26 PARK7 PRKN
6 phospholipase binding GO:0043274 9.16 PRKN SNCA
7 cuprous ion binding GO:1903136 8.96 PARK7 SNCA
8 cupric ion binding GO:1903135 8.62 ATP13A2 PARK7

Sources for Early-Onset Parkinson's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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