MCID: ERL047
MIFTS: 34

Early-Onset Parkinson Disease

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

Aliases & Classifications for Early-Onset Parkinson Disease

MalaCards integrated aliases for Early-Onset Parkinson Disease:

Name: Early-Onset Parkinson Disease 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0060894

Summaries for Early-Onset Parkinson Disease

MalaCards based summary : Early-Onset Parkinson Disease is related to parkinson disease 6, early onset and parkin type of early-onset parkinson disease. An important gene associated with Early-Onset Parkinson 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 Dopamine and insulin have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cellular

Related Diseases for Early-Onset Parkinson Disease

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19a, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 22, Autosomal Dominant
Parkinson Disease 8 Parkinson Disease 23, Autosomal Recessive, Early Onset
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Juvenile-Onset Parkinson Disease
Early-Onset Parkinson Disease Lrrk2-Related Parkinson Disease
Vps35-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Synj1-Related Parkinson Disease
Dnajc6-Related Parkinson Disease Eif4g1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Htra2-Related Parkinson Disease Park7-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Snca-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 parkinson disease 6, early onset 32.6 PARK7 PINK1
2 parkin type of early-onset parkinson disease 12.3
3 parkinson disease 20, early-onset 11.8
4 parkinson disease, juvenile, type 2 11.3
5 parkinson disease 7, autosomal recessive early-onset 11.2
6 parkinson disease 15, autosomal recessive 11.2
7 parkinson disease 23, autosomal recessive, early onset 11.1
8 waisman syndrome 11.0
9 autosomal recessive early-onset parksinson disease 23 10.9
10 rubinstein-taybi syndrome 2 10.2 PINK1 PRKN
11 erb-duchenne and dejerine-klumpke palsies 9.9 PRKN SNCA
12 intellectual disability 9.7
13 dystonia 9.7
14 riedel's fibrosing thyroiditis 9.7 LRRK2 SNCA
15 hereditary spastic paraplegia 3a 9.7 ATP13A2 SNCA
16 sebaceous gland disease 9.6 LRRK2 SNCA
17 thyrotropin-releasing hormone deficiency 9.5 LRRK2 PRKN SNCA
18 parietal foramina 3 9.5 LRRK2 PRKN SNCA
19 pick disease 9.4 LRRK2 PRKN SNCA
20 nosophobia 9.4 LRRK2 SNCA
21 13q12.3 microdeletion syndrome 9.3 GBA LRRK2 SNCA
22 sparc-related osteogenesis imperfecta 9.3 LRRK2 PARK7 PRKN SNCA
23 hepatic angiomyolipoma 9.2 LRRK2 PINK1 PRKN SNCA
24 supranuclear palsy, progressive atypical 9.2 LRRK2 PARK7 PRKN SNCA
25 eumycotic mycetoma 9.2 ATP13A2 PARK7 PRKN SNCA
26 parkinson disease 10 8.9 LRRK2 PARK7 PINK1 PRKN SNCA
27 celiac disease 12 8.9 LRRK2 PARK7 PINK1 PRKN SNCA
28 mast syndrome 8.9 LRRK2 PARK7 PINK1 PRKN SNCA
29 ganglioneuroma 8.9 LRRK2 PARK7 PINK1 PRKN SNCA
30 prostate carcinoma in situ 8.9 LRRK2 PARK7 PINK1 PRKN SNCA
31 fastkd2-related infantile mitochondrial encephalomyopathy 8.7 GBA LRRK2 PRKN SNCA
32 ectodermal dysplasia 13, hair/tooth type 8.4 ATP13A2 LRRK2 PARK7 PINK1 PRKN SNCA
33 parkinson disease 1 8.4 GBA LRRK2 PARK7 PRKN SNCA
34 piebald trait, kit-related 8.3 ATP13A2 GBA LRRK2 PARK7 SNCA
35 adrenal gland pheochromocytoma 8.1 GBA LRRK2 PARK7 PINK1 PRKN SNCA
36 parkinson disease, late-onset 8.0 GBA LRRK2 PARK7 PINK1 PRKN SNCA
37 waldenstroem's macroglobulinemia 7.1 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN

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



Diseases related to Early-Onset Parkinson Disease

Symptoms & Phenotypes for Early-Onset Parkinson Disease

MGI Mouse Phenotypes related to Early-Onset Parkinson Disease:

44
id 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 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN
3 nervous system MP:0003631 9.17 ATP13A2 GBA LRRK2 PARK7 PINK1 PRKN

Drugs & Therapeutics for Early-Onset Parkinson Disease

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2 insulin
3 Neurotransmitter Agents
4 Dopamine Agents
5 Peripheral Nervous System Agents
6 Insulin, Globin Zinc
7 Protective Agents
8 Autonomic Agents

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 A Trial of MitoQ for the Treatment of People With Parkinson's Disease Completed NCT00329056 Phase 2 MitoQ
2 Parkin Mutations and Their Functional Consequences Unknown status NCT00136721 Phase 1
3 Functional Characterization of Parkin + Patients Terminated NCT00142311 Phase 1
4 Consortium On Risk for Early-onset Parkinson's Disease (CORE PD) Unknown status NCT00104585
5 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
6 Mutations Associated With Parkinson s Disease Completed NCT01547832
7 Hereditary Parkinson s Disease Natural History Protocol Completed NCT02511015
8 Trodat 1 SPECT and Dopamine Polymorphism Completed NCT01381302
9 Parkinson's Families Project Recruiting NCT02760108
10 Ultra High Field Magnetic Resonance Imaging as a Biomarker for Premotor Parkinson's Disease Recruiting NCT03288909
11 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478

Search NIH Clinical Center for Early-Onset Parkinson Disease

Genetic Tests for Early-Onset Parkinson Disease

Anatomical Context for Early-Onset Parkinson Disease

Publications for Early-Onset Parkinson Disease

Articles related to Early-Onset Parkinson Disease:

(show all 26)
id Title Authors Year
1
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. ( 28724584 )
2017
2
Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation. ( 27667361 )
2017
3
Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome. ( 26868161 )
2016
4
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. ( 27066548 )
2015
5
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with I+-synuclein pathology. ( 25434005 )
2014
6
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
7
Mortalin mutations are not a frequent cause of early-onset Parkinson disease. ( 23831374 )
2013
8
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. ( 23986421 )
2013
9
Dropped head syndrome in early-onset Parkinson disease treated with bilateral subthalamic stimulation: clinical, imaging, EMG, and biopsy findings. ( 22526764 )
2013
10
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. ( 24176883 )
2013
11
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. ( 21534944 )
2012
12
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. ( 20837857 )
2010
13
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. ( 20558392 )
2010
14
Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. ( 20949509 )
2010
15
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. ( 19208384 )
2009
16
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. ( 20008657 )
2009
17
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. ( 18704525 )
2008
18
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. ( 17766365 )
2008
19
Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families. ( 18068301 )
2008
20
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. ( 17875915 )
2007
21
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. ( 17030667 )
2006
22
Case-control study of the parkin gene in early-onset Parkinson disease. ( 16606767 )
2006
23
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. ( 15108293 )
2004
24
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). ( 15365989 )
2004
25
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. ( 14872018 )
2004
26
Parkin Type of Early-Onset Parkinson Disease ( 20301651 )
1993

Variations for Early-Onset Parkinson Disease

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

7
id 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 Disease

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

Pathways for Early-Onset Parkinson Disease

GO Terms for Early-Onset Parkinson Disease

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.83 LRRK2 PARK7 PINK1 PRKN SNCA
2 perinuclear region of cytoplasm GO:0048471 9.71 PARK7 PINK1 PRKN SNCA
3 neuronal cell body GO:0043025 9.69 ATP13A2 LRRK2 SNCA
4 lysosome GO:0005764 9.56 ATP13A2 GBA LRRK2 SNCA
5 terminal bouton GO:0043195 9.49 LRRK2 SNCA
6 mitochondrial respiratory chain complex I GO:0005747 9.48 PARK7 SNCA
7 postsynapse GO:0098794 9.46 LRRK2 SNCA
8 axon GO:0030424 9.46 LRRK2 PARK7 PINK1 SNCA
9 inclusion body GO:0016234 9.37 LRRK2 SNCA
10 growth cone GO:0030426 9.32 LRRK2 SNCA
11 neuron projection GO:0043005 9.02 ATP13A2 LRRK2 PARK7 PRKN RAB39B
12 Lewy body GO:0097413 8.96 PINK1 PRKN

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

(show top 50) (show all 61)
id 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 9.82 PARK7 PINK1 SNCA
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.81 GBA LRRK2 PRKN
7 regulation of autophagy GO:0010506 9.79 LRRK2 PRKN RAB39B
8 adult locomotory behavior GO:0008344 9.78 PARK7 PRKN SNCA
9 negative regulation of protein phosphorylation GO:0001933 9.76 LRRK2 PARK7 PRKN SNCA
10 negative regulation of protein binding GO:0032091 9.73 LRRK2 PARK7
11 positive regulation of protein ubiquitination GO:0031398 9.73 LRRK2 PINK1
12 cellular response to starvation GO:0009267 9.73 GBA LRRK2
13 protein destabilization GO:0031648 9.72 PRKN SNCA
14 synapse organization GO:0050808 9.72 RAB39B SNCA
15 mitophagy GO:0000422 9.72 PINK1 PRKN
16 regulation of mitophagy GO:1903146 9.72 ATP13A2 PINK1
17 activation of protein kinase B activity GO:0032148 9.72 PARK7 PINK1
18 regulation of mitochondrial membrane potential GO:0051881 9.72 PARK7 PINK1 PRKN
19 autophagy GO:0006914 9.72 LRRK2 PARK7 PINK1 PRKN RAB39B
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 canonical Wnt signaling pathway GO:0060828 9.71 LRRK2 PRKN
23 negative regulation of reactive oxygen species metabolic process GO:2000378 9.71 PINK1 PRKN
24 positive regulation of protein dephosphorylation GO:0035307 9.7 GBA PINK1
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 synaptic transmission, dopaminergic GO:0001963 9.69 PARK7 PRKN SNCA
32 positive regulation of mitochondrial fission GO:0090141 9.68 PINK1 PRKN
33 cellular response to dopamine GO:1903351 9.68 LRRK2 PRKN
34 dopamine metabolic process GO:0042417 9.68 PRKN SNCA
35 negative regulation of macroautophagy GO:0016242 9.67 LRRK2 PINK1
36 negative regulation of oxidative stress-induced neuron death GO:1903204 9.67 PARK7 PINK1
37 negative regulation of autophagosome assembly GO:1902902 9.67 LRRK2 PINK1
38 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.67 LRRK2 PARK7 PRKN
39 regulation of locomotion GO:0040012 9.66 LRRK2 SNCA
40 cellular response to toxic substance GO:0097237 9.66 PINK1 PRKN
41 regulation of protein targeting to mitochondrion GO:1903214 9.65 PINK1 PRKN
42 positive regulation of mitophagy GO:1903599 9.65 PARK7 PRKN
43 regulation of mitochondrion organization GO:0010821 9.65 ATP13A2 PINK1 PRKN
44 protein localization to mitochondrion GO:0070585 9.64 LRRK2 PRKN
45 zinc ion homeostasis GO:0055069 9.63 ATP13A2 PRKN
46 mitophagy in response to mitochondrial depolarization GO:0098779 9.62 PINK1 PRKN
47 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.62 PARK7 PRKN
48 dopamine uptake involved in synaptic transmission GO:0051583 9.61 PARK7 PRKN SNCA
49 mitochondrion to lysosome transport GO:0099074 9.6 PINK1 PRKN
50 regulation of cellular response to oxidative stress GO:1900407 9.59 PINK1 PRKN

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.67 LRRK2 PARK7 PRKN SNCA
2 enzyme binding GO:0019899 9.63 PARK7 PRKN SNCA
3 copper ion binding GO:0005507 9.43 PARK7 SNCA
4 tubulin binding GO:0015631 9.4 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 Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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