MCID: ERL047
MIFTS: 36

Early-Onset Parkinson Disease

Categories: Rare diseases, Neuronal diseases, Mental diseases, Genetic 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, autosomal recessive early-onset and parkinson disease 2, autosomal recessive juvenile. 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 insulin and Insulin, Globin Zinc 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 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 Disease Early-Onset Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Early-Onset Parkinson 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 32.8 PARK7 PINK1
2 parkinson disease 2, autosomal recessive juvenile 31.4 LRRK2 PARK7 PINK1 PRKN SNCA
3 parkinson disease 15, autosomal recessive early-onset 30.2 ATP13A2 LRRK2 PARK7 PINK1 PRKN SNCA
4 parkinson disease, late-onset 28.0 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 7, autosomal recessive early-onset 11.8
8 parkinson disease 23, autosomal recessive early-onset 11.4
9 waisman syndrome 11.1
10 autosomal recessive early-onset parksinson disease 23 11.0
11 muscular dystrophy, congenital, megaconial type 10.2 PINK1 PRKN
12 dysautonomia 10.0 PRKN SNCA
13 postencephalitic parkinson disease 9.8 LRRK2 SNCA
14 leprosy 3 9.8 LRRK2 PRKN
15 rem sleep behavior disorder 9.8 LRRK2 SNCA
16 alacrima, achalasia, and mental retardation syndrome 9.8
17 dystonia 9.8
18 aphasia 9.7 LRRK2 SNCA
19 corticobasal degeneration 9.6 GBA LRRK2
20 multiple system atrophy 1 9.6 LRRK2 PRKN SNCA
21 essential tremor 9.6 LRRK2 PRKN SNCA
22 neurodegeneration with brain iron accumulation 9.5 ATP13A2 SNCA
23 parkinson disease 3, autosomal dominant 9.4 LRRK2 PARK7 PRKN SNCA
24 central nervous system disease 9.4 LRRK2 PINK1 PRKN SNCA
25 supranuclear palsy, progressive, 1 9.4 LRRK2 PARK7 PRKN SNCA
26 hereditary late-onset parkinson disease 9.3 GBA LRRK2 SNCA
27 parkinson disease 10 9.2 LRRK2 PARK7 PINK1 PRKN SNCA
28 movement disease 9.1 LRRK2 PARK7 PINK1 PRKN SNCA
29 nervous system disease 9.1 LRRK2 PARK7 PINK1 PRKN SNCA
30 tremor 9.0 GBA LRRK2 PRKN SNCA
31 dementia, lewy body 8.8 GBA LRRK2 PARK7 PRKN SNCA
32 dementia 8.8 ATP13A2 GBA PARK7 PRKN SNCA
33 synucleinopathy 8.2 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:

43
# 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 Disease

Drugs for Early-Onset Parkinson 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 Ultra High Field Magnetic Resonance Imaging as a Biomarker for Premotor Parkinson's Disease Recruiting NCT03288909
6 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
7 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 27)
# Title Authors Year
1
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants. ( 29361389 )
2018
2
Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation. ( 27667361 )
2017
3
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. ( 28724584 )
2017
4
Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome. ( 26868161 )
2016
5
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. ( 27066548 )
2015
6
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with I+-synuclein pathology. ( 25434005 )
2014
7
Dropped head syndrome in early-onset Parkinson disease treated with bilateral subthalamic stimulation: clinical, imaging, EMG, and biopsy findings. ( 22526764 )
2013
8
Mortalin mutations are not a frequent cause of early-onset Parkinson disease. ( 23831374 )
2013
9
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. ( 23986421 )
2013
10
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. ( 24176883 )
2013
11
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
12
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. ( 21534944 )
2012
13
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. ( 20558392 )
2010
14
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
15
Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. ( 20949509 )
2010
16
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. ( 19208384 )
2009
17
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. ( 20008657 )
2009
18
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. ( 18704525 )
2008
19
Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families. ( 18068301 )
2008
20
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. ( 17766365 )
2008
21
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. ( 17875915 )
2007
22
Case-control study of the parkin gene in early-onset Parkinson disease. ( 16606767 )
2006
23
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. ( 17030667 )
2006
24
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). ( 15365989 )
2004
25
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. ( 15108293 )
2004
26
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. ( 14872018 )
2004
27
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
# 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)
# 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 growth cone GO:0030426 9.5 LRRK2 PINK1 SNCA
6 terminal bouton GO:0043195 9.49 LRRK2 SNCA
7 mitochondrial respiratory chain complex I GO:0005747 9.48 PARK7 SNCA
8 postsynapse GO:0098794 9.46 LRRK2 SNCA
9 axon GO:0030424 9.46 LRRK2 PARK7 PINK1 SNCA
10 inclusion body GO:0016234 9.37 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 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 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 positive regulation of protein binding GO:0032092 9.73 LRRK2 PRKN
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 9.73 PRKN SNCA
14 synapse organization GO:0050808 9.72 RAB39B SNCA
15 autophagy of mitochondrion GO:0000422 9.72 PINK1 PRKN
16 activation of protein kinase B activity GO:0032148 9.72 PARK7 PINK1
17 regulation of autophagy of mitochondrion GO:1903146 9.72 ATP13A2 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 canonical Wnt signaling pathway GO:0060828 9.71 LRRK2 PRKN
22 regulation of neuron apoptotic process GO:0043523 9.71 PARK7 PINK1
23 negative regulation of reactive oxygen species metabolic process GO:2000378 9.71 PINK1 PRKN
24 positive regulation of protein dephosphorylation GO:0035307 9.71 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 positive regulation of mitochondrial fission GO:0090141 9.69 PINK1 PRKN
32 synaptic transmission, dopaminergic GO:0001963 9.69 PARK7 PRKN SNCA
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 autophagosome assembly GO:1902902 9.68 LRRK2 PINK1
36 negative regulation of macroautophagy GO:0016242 9.67 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 cellular response to toxic substance GO:0097237 9.66 PINK1 PRKN
41 regulation of protein targeting to mitochondrion GO:1903214 9.66 PINK1 PRKN
42 positive regulation of autophagy of mitochondrion GO:1903599 9.65 PARK7 PRKN
43 protein localization to mitochondrion GO:0070585 9.65 LRRK2 PRKN
44 regulation of mitochondrion organization GO:0010821 9.65 ATP13A2 PINK1 PRKN
45 positive regulation of histone deacetylase activity GO:1901727 9.64 LRRK2 PINK1
46 zinc ion homeostasis GO:0055069 9.63 ATP13A2 PRKN
47 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.63 GBA PINK1
48 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.62 PINK1 PRKN
49 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.61 PARK7 PRKN
50 dopamine uptake involved in synaptic transmission GO:0051583 9.61 PARK7 PRKN SNCA

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.61 PARK7 PRKN SNCA
2 copper ion binding GO:0005507 9.4 PARK7 SNCA
3 tubulin binding GO:0015631 9.37 LRRK2 PRKN
4 Hsp70 protein binding GO:0030544 9.32 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 Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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