MCID: ERL047
MIFTS: 34

Early-Onset Parkinson Disease malady

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

Aliases & Classifications for Early-Onset Parkinson Disease

Aliases & Descriptions 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 PARK7 (Parkinsonism Associated Deglycase), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. 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 19, 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 8
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 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease
Parkinson Disease 22 Parkinson Disease 23, Autosomal Recessive, Early Onset

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 parkinson disease 6, early onset 31.8 ATP13A2 LRRK2 PARK7 PINK1
2 parkin type of early-onset parkinson disease 12.3
3 parkinson disease 20, early-onset 11.7
4 parkinson disease 7, autosomal recessive early-onset 11.3
5 parkinson disease, juvenile, type 2 11.3
6 parkinson disease 15, autosomal recessive 11.2
7 parkinson disease 23, autosomal recessive, early onset 11.2
8 waisman syndrome 11.0
9 parkinson disease, late-onset 10.9
10 autosomal recessive early-onset parksinson disease 23 10.9
11 lower gum cancer 10.1 LRRK2 SNCA
12 riedel's fibrosing thyroiditis 10.0 LRRK2 SNCA
13 multiple system atrophy 10.0 PARK7 PINK1 SNCA
14 thyrotropin-releasing hormone deficiency 10.0 LRRK2 SNCA
15 spink1-related hereditary pancreatitis 10.0 LRRK2 PARK7 SNCA
16 pupil disease 10.0 PLA2G6 SNCA
17 meier-gorlin syndrome 5 10.0 LRRK2 PARK7 SNCA
18 corneal endothelial dystrophy 2, autosomal recessive 10.0 PLA2G6 SNCA
19 waldenstroem's macroglobulinemia 9.9 ATP13A2 PLA2G6
20 epithelioid type angiomyolipoma 9.9 LRRK2 PINK1 SNCA
21 autoimmune disease of urogenital tract 9.9 LRRK2 SNCA
22 transient neonatal myasthenia gravis 9.9 GBA LRRK2 SNCA
23 ceroid lipofuscinosis, neuronal, 1 9.9 LRRK2 PARK7 PINK1 SNCA
24 lethal congenital contracture syndrome 8 9.9 LRRK2 PARK7 PINK1 SNCA
25 benign partial epilepsy with secondarily generalized seizures in infancy 9.9 GBA LRRK2 SNCA
26 trichothiodystrophy 3, photosensitive 9.9 LRRK2 PARK7 PINK1 SNCA
27 hypoproteinemia, hypercatabolic 9.8 LRRK2 PARK7 PINK1 SNCA
28 cavernous hemangioma 9.8 LRRK2 PARK7 PINK1 SNCA
29 substance-induced psychosis 9.8 LRRK2 PARK7 PINK1 SNCA
30 parkinson disease 14, autosomal recessive 9.8 ATP13A2 PLA2G6
31 eumycotic mycetoma 9.8 ATP13A2 LRRK2 SNCA
32 coenzyme q10 deficiency, primary, 1 9.7 GBA LRRK2 PARK7 SNCA
33 intellectual disability 9.7
34 hereditary spastic paraplegia 51 9.7 ATP13A2 PLA2G6 SNCA
35 kufor-rakeb syndrome 9.7 ATP13A2 PARK7 PINK1 PLA2G6
36 hemochromatosis, type 2a 9.6 GBA LRRK2 PARK7 PINK1 SNCA
37 plekhm1-related autosomal recessive osteopetrosis 9.4 ATP13A2 GBA LRRK2 PARK7 SNCA
38 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.3 ATP13A2 LRRK2 PARK7 PINK1 PLA2G6 SNCA
39 gallbladder adenoma 9.3 ATP13A2 GBA LRRK2 PARK7 PINK1 SNCA
40 thrombosis 8.9 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6

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 9.8 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6
2 cellular MP:0005384 9.7 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6
3 immune system MP:0005387 9.43 ATP13A2 GBA LRRK2 PINK1 PLA2G6 SNCA
4 nervous system MP:0003631 9.17 PLA2G6 SNCA ATP13A2 GBA LRRK2 PARK7

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 Insulin, Globin Zinc
4 Autonomic Agents
5 Dopamine Agents
6 Neurotransmitter Agents
7 Peripheral Nervous System Agents
8 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Trial of MitoQ for the Treatment of People With Parkinson's Disease Completed NCT00329056 Phase 2
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 Trodat 1 SPECT and Dopamine Polymorphism Completed NCT01381302
8 Novel Stimulation Patterns for the Treatment of Dystonia Completed NCT02468843
9 Hereditary Parkinson s Disease Natural History Protocol Recruiting NCT02511015
10 Parkinson's Families Project Recruiting NCT02760108

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 18)
id Title Authors Year
1
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with I+-synuclein pathology. ( 25434005 )
2014
2
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. ( 24176883 )
2013
3
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
4
Mortalin mutations are not a frequent cause of early-onset Parkinson disease. ( 23831374 )
2013
5
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. ( 23986421 )
2013
6
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. ( 21534944 )
2012
7
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. ( 20558392 )
2010
8
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. ( 20008657 )
2009
9
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. ( 17766365 )
2008
10
Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families. ( 18068301 )
2008
11
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. ( 18704525 )
2008
12
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. ( 17875915 )
2007
13
Case-control study of the parkin gene in early-onset Parkinson disease. ( 16606767 )
2006
14
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. ( 17030667 )
2006
15
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. ( 15108293 )
2004
16
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. ( 14872018 )
2004
17
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). ( 15365989 )
2004
18
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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 PARK7 PINK1 SNCA
2 11.86 ATP13A2 LRRK2 PARK7 PINK1 SNCA
3 10.85 LRRK2 PARK7 PINK1 SNCA
4 10.66 PARK7 SNCA

GO Terms for Early-Onset Parkinson Disease

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 LRRK2 PARK7 PINK1 PLA2G6 SNCA
2 neuronal cell body GO:0043025 9.63 ATP13A2 LRRK2 SNCA
3 terminal bouton GO:0043195 9.48 LRRK2 SNCA
4 lysosome GO:0005764 9.46 ATP13A2 GBA LRRK2 SNCA
5 mitochondrial respiratory chain complex I GO:0005747 9.4 PARK7 SNCA
6 postsynapse GO:0098794 9.37 LRRK2 SNCA
7 inclusion body GO:0016234 9.26 LRRK2 SNCA
8 neuron projection GO:0043005 9.26 ATP13A2 LRRK2 PARK7 RAB39B
9 axon GO:0030424 8.92 LRRK2 PARK7 PINK1 SNCA
10 membrane GO:0016020 10.03 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6

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

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.78 LRRK2 PINK1 PLA2G6
2 negative regulation of neuron apoptotic process GO:0043524 9.77 PARK7 PINK1 SNCA
3 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.69 PARK7 PINK1 SNCA
4 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.68 GBA LRRK2
5 excitatory postsynaptic potential GO:0060079 9.68 LRRK2 SNCA
6 regulation of macroautophagy GO:0016241 9.68 ATP13A2 GBA
7 positive regulation of protein ubiquitination GO:0031398 9.68 LRRK2 PINK1
8 negative regulation of protein binding GO:0032091 9.67 LRRK2 PARK7
9 adult locomotory behavior GO:0008344 9.67 PARK7 SNCA
10 regulation of autophagy GO:0010506 9.67 LRRK2 RAB39B
11 negative regulation of protein phosphorylation GO:0001933 9.67 LRRK2 PARK7 SNCA
12 cellular response to starvation GO:0009267 9.66 GBA LRRK2
13 synapse organization GO:0050808 9.66 RAB39B SNCA
14 regulation of mitochondrial membrane potential GO:0051881 9.65 PARK7 PINK1
15 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.65 PINK1 PLA2G6
16 regulation of mitophagy GO:1903146 9.65 ATP13A2 PINK1
17 activation of protein kinase B activity GO:0032148 9.64 PARK7 PINK1
18 regulation of neuron apoptotic process GO:0043523 9.64 PARK7 PINK1
19 regulation of reactive oxygen species metabolic process GO:2000377 9.63 PINK1 SNCA
20 positive regulation of protein dephosphorylation GO:0035307 9.63 GBA PINK1
21 regulation of neuron death GO:1901214 9.62 LRRK2 SNCA
22 synaptic transmission, dopaminergic GO:0001963 9.62 PARK7 SNCA
23 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.61 LRRK2 PARK7
24 regulation of mitochondrion organization GO:0010821 9.59 ATP13A2 PINK1
25 negative regulation of macroautophagy GO:0016242 9.58 LRRK2 PINK1
26 negative regulation of oxidative stress-induced neuron death GO:1903204 9.58 PARK7 PINK1
27 negative regulation of autophagosome assembly GO:1902902 9.57 LRRK2 PINK1
28 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.56 LRRK2 PARK7
29 autophagy GO:0006914 9.56 LRRK2 PARK7 PINK1 RAB39B
30 regulation of locomotion GO:0040012 9.55 LRRK2 SNCA
31 cellular response to manganese ion GO:0071287 9.54 ATP13A2 LRRK2
32 dopamine uptake involved in synaptic transmission GO:0051583 9.52 PARK7 SNCA
33 regulation of synaptic vesicle transport GO:1902803 9.48 LRRK2 PINK1
34 autophagosome organization GO:1905037 9.46 ATP13A2 GBA
35 mitochondrion organization GO:0007005 9.46 GBA LRRK2 PARK7 PINK1
36 negative regulation of oxidative stress-induced cell death GO:1903202 9.43 PARK7 PINK1
37 regulation of lysosomal protein catabolic process GO:1905165 9.4 ATP13A2 GBA
38 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.37 PARK7 PINK1
39 cellular response to oxidative stress GO:0034599 9.35 ATP13A2 LRRK2 PARK7 PINK1 SNCA
40 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.32 PARK7 PINK1
41 negative regulation of neuron death GO:1901215 9.02 ATP13A2 GBA LRRK2 PARK7 SNCA

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

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 PARK7 SNCA
2 cuprous ion binding GO:1903136 8.96 PARK7 SNCA
3 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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