MCID: ERL056
MIFTS: 40

Early-Onset Parkinson's Disease

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Mental diseases, Metabolic 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
Early-Onset Parkinson Disease 12 15

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 Putative Kinase 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and cellular

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 33)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 6, autosomal recessive early-onset 33.1 PARK7 PINK1
2 parkinson disease 15, autosomal recessive early-onset 31.8 ATP13A2 SNCA
3 parkinson disease 2, autosomal recessive juvenile 30.2 LRRK2 PARK7 PINK1 PRKN SNCA
4 parkinson disease, late-onset 26.4 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN
5 parkin type of early-onset parkinson disease 12.4
6 parkinson disease 20, early-onset 11.9
7 parkinson disease 23, autosomal recessive early-onset 11.9
8 parkinson disease 7, autosomal recessive early-onset 11.5
9 parkinson disease 19a, juvenile-onset 11.4
10 waisman syndrome 11.1
11 muscular dystrophy, congenital, megaconial type 10.3 PINK1 PRKN
12 alacrima, achalasia, and mental retardation syndrome 9.8
13 dystonia 9.8
14 postencephalitic parkinson disease 9.8 LRRK2 SNCA
15 leprosy 3 9.7 LRRK2 PRKN
16 rem sleep behavior disorder 9.7 LRRK2 SNCA
17 aphasia 9.6 LRRK2 SNCA
18 dysautonomia 9.5 GBA SNCA
19 corticobasal degeneration 9.4 GBA LRRK2
20 multiple system atrophy 1 9.4 LRRK2 PRKN SNCA
21 essential tremor 9.4 LRRK2 PRKN SNCA
22 neurodegeneration with brain iron accumulation 9.2 ATP13A2 SNCA
23 parkinson disease 3, autosomal dominant 9.1 LRRK2 PARK7 PRKN SNCA
24 supranuclear palsy, progressive, 1 9.0 LRRK2 PARK7 PRKN SNCA
25 hereditary late-onset parkinson disease 9.0 GBA LRRK2 SNCA
26 parkinson disease 10 8.7 LRRK2 PARK7 PINK1 PRKN SNCA
27 central nervous system disease 8.6 LRRK2 PARK7 PINK1 PRKN SNCA
28 nervous system disease 8.6 LRRK2 PARK7 PINK1 PRKN SNCA
29 tremor 8.5 GBA LRRK2 PRKN SNCA
30 dementia, lewy body 8.1 GBA LRRK2 PARK7 PRKN SNCA
31 movement disease 7.7 GBA LRRK2 PARK7 PINK1 PRKN SNCA
32 dementia 7.5 ATP13A2 GBA LRRK2 PARK7 PRKN SNCA
33 synucleinopathy 7.1 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN
2 cellular MP:0005384 9.5 GBA LRRK2 PARK7 PINK1 PRKN SNCA
3 nervous system MP:0003631 9.17 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN

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
2 Insulin, Globin Zinc

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 Mutations Associated With Parkinson s Disease Completed NCT01547832
4 Hereditary Parkinson s Disease Natural History Protocol Completed NCT02511015
5 Chinese EOPD Registry Recruiting NCT03508960
6 Ultra High Field Magnetic Resonance Imaging as a Biomarker for Premotor Parkinson's Disease Recruiting NCT03288909
7 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
8 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:

41
Testes, Brain

Publications for Early-Onset Parkinson's Disease

Articles related to Early-Onset Parkinson's Disease:

(show top 50) (show all 119)
# Title Authors Year
1
Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation. ( 29606608 )
2018
2
Quantitative Analysis of Catecholamines in the Pink1 -/- Rat Model of Early-onset Parkinson's Disease. ( 29496635 )
2018
3
Novel compound heterozygous mutations in the <i>PARK2</i> gene identified in a Chinese pedigree with early-onset Parkinson's disease. ( 29568695 )
2018
4
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants. ( 29361389 )
2018
5
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. ( 28862745 )
2018
6
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease. ( 29655942 )
2018
7
Abnormal visual gain control and excitotoxicity in early-onset Parkinson's disease Drosophila models. ( 29142100 )
2018
8
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population. ( 28913705 )
2017
9
Associations among Cognitive Functions, Plasma DNA, and White Matter Integrity in Patients with Early-Onset Parkinson's Disease. ( 28174514 )
2017
10
Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. ( 28256260 )
2017
11
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. ( 28724584 )
2017
12
Epigenetic approach to early-onset Parkinson's disease: low methylation status of SNCA and PARK2 promoter regions. ( 28830306 )
2017
13
The patterns of EEG changes in early-onset Parkinson's disease patients. ( 28281852 )
2017
14
Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation. ( 27667361 )
2017
15
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report. ( 28789629 )
2017
16
Adenosine A<sub>1</sub>-A<sub>2A</sub> Receptor Heteromer as a Possible Target for Early-Onset Parkinson's Disease. ( 29213228 )
2017
17
Mild Cognitive Impairment in Patients with Early-Onset Parkinson's Disease. ( 27467581 )
2016
18
Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease. ( 27036214 )
2016
19
DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population. ( 27687717 )
2016
20
Abnormal brain temperature in early-onset Parkinson's disease. ( 26873586 )
2016
21
Neurocognitive &amp;amp; neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings. ( 26855076 )
2016
22
Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome. ( 26868161 )
2016
23
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. ( 26528954 )
2016
24
The high prevalence of impulse control behaviors in patients with early-onset Parkinson's disease: A cross-sectional multicenter study. ( 27538621 )
2016
25
Early Onset Parkinson's disease due to DJ1 mutations: An Indian study. ( 27592010 )
2016
26
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. ( 27066548 )
2015
27
Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications. ( 24677602 )
2014
28
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study. ( 25226871 )
2014
29
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with I+-synuclein pathology. ( 25434005 )
2014
30
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. ( 24831986 )
2014
31
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease. ( 25238391 )
2014
32
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. ( 24018986 )
2013
33
Dropped head syndrome in early-onset Parkinson disease treated with bilateral subthalamic stimulation: clinical, imaging, EMG, and biopsy findings. ( 22526764 )
2013
34
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population. ( 24313877 )
2013
35
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. ( 24176883 )
2013
36
Mortalin mutations are not a frequent cause of early-onset Parkinson disease. ( 23831374 )
2013
37
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. ( 23448517 )
2013
38
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. ( 24167364 )
2013
39
Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation. ( 24315198 )
2013
40
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. ( 23986421 )
2013
41
PARK2 gene mutations in early onset Parkinson's disease patients of South India. ( 22766139 )
2012
42
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. ( 22956510 )
2012
43
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. ( 21534944 )
2012
44
High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. ( 22777964 )
2012
45
The PLA2G6 gene in early-onset Parkinson's disease. ( 21812034 )
2011
46
Sleep-related eating disorder in two patients with early-onset Parkinson's disease. ( 21846993 )
2011
47
Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations. ( 21625934 )
2011
48
Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease. ( 20797900 )
2011
49
High glucose upregulation of early-onset Parkinson's disease protein DJ-1 integrates the PRAS40/TORC1 axis to mesangial cell hypertrophy. ( 21426932 )
2011
50
Structured regions of I+-synuclein fibrils include the early-onset Parkinson's disease mutation sites. ( 21718702 )
2011

Variations for Early-Onset Parkinson's Disease

Copy number variations for Early-Onset Parkinson's Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 207846 6 161688579 163068824 Deletion PARK2 Early-onset parkinson 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

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 15)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.88 LRRK2 PARK7 PINK1 PRKN SNCA
2 perinuclear region of cytoplasm GO:0048471 9.76 PARK7 PINK1 PRKN SNCA
3 neuronal cell body GO:0043025 9.71 ATP13A2 LRRK2 SNCA
4 mitochondrial matrix GO:0005759 9.69 LRRK2 PARK7 SNCA
5 lysosome GO:0005764 9.62 ATP13A2 GBA LRRK2 SNCA
6 mitochondrial outer membrane GO:0005741 9.61 LRRK2 PINK1 SNCA
7 axon GO:0030424 9.56 LRRK2 PARK7 PINK1 SNCA
8 terminal bouton GO:0043195 9.55 LRRK2 SNCA
9 growth cone GO:0030426 9.54 LRRK2 PINK1 SNCA
10 postsynapse GO:0098794 9.52 LRRK2 SNCA
11 mitochondrial respiratory chain complex I GO:0005747 9.49 PARK7 SNCA
12 inclusion body GO:0016234 9.4 LRRK2 SNCA
13 mitochondrial intermembrane space GO:0005758 9.33 PARK7 PINK1 SNCA
14 neuron projection GO:0043005 9.02 ATP13A2 LRRK2 PARK7 PRKN RAB39B
15 Lewy body GO:0097413 8.96 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 negative regulation of gene expression GO:0010629 9.89 PARK7 PINK1 PRKN
2 protein stabilization GO:0050821 9.87 PARK7 PINK1 PRKN
3 response to oxidative stress GO:0006979 9.85 LRRK2 PINK1 PRKN
4 negative regulation of neuron apoptotic process GO:0043524 9.84 PARK7 PINK1 PRKN SNCA
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.83 PARK7 PINK1 SNCA
6 autophagy GO:0006914 9.83 LRRK2 PARK7 PINK1 PRKN RAB39B
7 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 GBA LRRK2 PRKN
8 regulation of autophagy GO:0010506 9.79 LRRK2 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 cellular response to starvation GO:0009267 9.73 GBA LRRK2
12 positive regulation of protein ubiquitination GO:0031398 9.73 LRRK2 PINK1
13 positive regulation of protein binding GO:0032092 9.73 LRRK2 PRKN
14 protein destabilization GO:0031648 9.73 PRKN SNCA
15 synapse organization GO:0050808 9.72 RAB39B SNCA
16 autophagy of mitochondrion GO:0000422 9.72 PINK1 PRKN
17 activation of protein kinase B activity GO:0032148 9.72 PARK7 PINK1
18 regulation of canonical Wnt signaling pathway GO:0060828 9.72 LRRK2 PRKN
19 regulation of mitochondrial membrane potential GO:0051881 9.72 PARK7 PINK1 PRKN
20 negative regulation of JNK cascade GO:0046329 9.71 PINK1 PRKN
21 regulation of neuron apoptotic process GO:0043523 9.71 PARK7 PINK1
22 regulation of autophagy of mitochondrion GO:1903146 9.71 ATP13A2 PINK1
23 positive regulation of protein dephosphorylation GO:0035307 9.71 GBA PINK1
24 negative regulation of reactive oxygen species metabolic process GO:2000378 9.71 PINK1 PRKN
25 regulation of dopamine secretion GO:0014059 9.7 PRKN SNCA
26 regulation of neuron death GO:1901214 9.7 LRRK2 SNCA
27 regulation of neurotransmitter secretion GO:0046928 9.7 PRKN SNCA
28 regulation of reactive oxygen species metabolic process GO:2000377 9.7 PINK1 PRKN SNCA
29 regulation of protein ubiquitination GO:0031396 9.69 PINK1 PRKN
30 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.69 LRRK2 PARK7
31 positive regulation of mitochondrial fission GO:0090141 9.69 PINK1 PRKN
32 synaptic transmission, dopaminergic GO:0001963 9.69 PARK7 PRKN SNCA
33 dopamine metabolic process GO:0042417 9.68 PRKN SNCA
34 negative regulation of macroautophagy GO:0016242 9.68 LRRK2 PINK1
35 cellular response to dopamine GO:1903351 9.68 LRRK2 PRKN
36 negative regulation of autophagosome assembly GO:1902902 9.68 LRRK2 PINK1
37 negative regulation of oxidative stress-induced neuron death GO:1903204 9.67 PARK7 PINK1
38 regulation of locomotion GO:0040012 9.67 LRRK2 SNCA
39 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.67 LRRK2 PARK7 PRKN
40 regulation of protein targeting to mitochondrion GO:1903214 9.66 PINK1 PRKN
41 cellular response to toxic substance GO:0097237 9.66 PINK1 PRKN
42 positive regulation of autophagy of mitochondrion GO:1903599 9.65 PARK7 PRKN
43 positive regulation of histone deacetylase activity GO:1901727 9.65 LRRK2 PINK1
44 regulation of mitochondrion organization GO:0010821 9.65 ATP13A2 PINK1 PRKN
45 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.64 PINK1 PRKN
46 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.63 GBA PINK1
47 zinc ion homeostasis GO:0055069 9.63 ATP13A2 PRKN
48 protein localization to mitochondrion GO:0070585 9.62 LRRK2 PRKN
49 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.61 PARK7 PRKN
50 mitochondrion to lysosome transport GO:0099074 9.6 PINK1 PRKN

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.76 LRRK2 PARK7 PRKN SNCA
2 enzyme binding GO:0019899 9.61 PARK7 PRKN SNCA
3 copper ion binding GO:0005507 9.4 PARK7 SNCA
4 tubulin binding GO:0015631 9.37 LRRK2 PRKN
5 Hsp70 protein binding GO:0030544 9.32 PRKN SNCA
6 ubiquitin-specific protease binding GO:1990381 9.26 PARK7 PRKN
7 phospholipase binding GO:0043274 9.16 PRKN SNCA
8 cuprous ion binding GO:1903136 8.96 PARK7 SNCA
9 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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