MCID: JVN058
MIFTS: 29

Juvenile-Onset Parkinson's Disease

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

Aliases & Classifications for Juvenile-Onset Parkinson's Disease

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

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0060893

Summaries for Juvenile-Onset Parkinson's Disease

Disease Ontology : 12 An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age.

MalaCards based summary : Juvenile-Onset Parkinson's Disease, also known as juvenile-onset parkinson disease, is related to parkinson disease, late-onset and dystonia. An important gene associated with Juvenile-Onset Parkinson's Disease is DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6), and among its related pathways/superpathways are Neuroscience and Parkinsons Disease Pathway. Affiliated tissues include brain, and related phenotypes are behavior/neurological and cellular

Related Diseases for Juvenile-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
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 30.7 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
2 dystonia 27.3 WDR45 PRKN PLA2G6 PINK1 PARK7 PANK2
3 kufor-rakeb syndrome 26.3 WDR45 VPS35 SNCA PRKN PLA2G6 PINK1
4 parkinson disease 19a, juvenile-onset 11.9
5 parkinson disease, mitochondrial 10.2 PRKN LRRK2
6 oromandibular dystonia 10.2 PLA2G6 PANK2 C19orf12
7 muscular dystrophy, congenital, megaconial type 10.2 PRKN PINK1
8 parkinson disease 6, autosomal recessive early-onset 10.2 PINK1 PARK7
9 cerebral degeneration 10.0 PLA2G6 PANK2 FA2H CRYAA
10 lrrk2 parkinson disease 10.0 SNCA PRKN LRRK2
11 alcohol-related neurodevelopmental disorder 10.0 WDR45 C19orf12
12 optic nerve disease 10.0 PINK1 CRYAA C19orf12
13 atypical juvenile parkinsonism 10.0
14 multiple system atrophy 1 10.0 SNCA PRKN LRRK2
15 essential tremor 10.0 SNCA PRKN LRRK2
16 spastic paraplegia 43, autosomal recessive 9.9 FA2H C19orf12
17 leber optic atrophy 9.9 SNCA PRKN PINK1 CRYAA
18 hereditary late-onset parkinson disease 9.9 VPS35 SNCA LRRK2
19 tremor 9.8 SNCA PRKN LRRK2 C19orf12
20 autosomal dominant cerebellar ataxia 9.8 SNCA PRKN LRRK2 CRYAA
21 parkinson disease 3, autosomal dominant 9.8 SNCA PRKN PARK7 LRRK2
22 pick disease of brain 9.8 SNCA PRKN PARK7 LRRK2
23 cone-rod dystrophy, x-linked, 1 9.8 ATP13A5 ATP13A1
24 hereditary spastic paraplegia 9.7 PLA2G6 FA2H C19orf12 ATP13A2
25 dystonia 12 9.7 SNCA PRKN PINK1 PARK7 ATP13A2
26 parkinson disease 10 9.6 SNCA PRKN PINK1 PARK7 LRRK2
27 postencephalitic parkinson disease 9.6 SNCA PRKN PINK1 PARK7 LRRK2
28 toxic encephalopathy 9.6 SNCA PRKN PINK1 PARK7 LRRK2
29 sphingolipidosis 9.6 SNCA PRKN PINK1 LRRK2 CRYAA ATP13A2
30 parkinson disease 2, autosomal recessive juvenile 9.5 SNCA PRKN PINK1 PARK7 LRRK2 DNAJC6
31 dementia 9.5 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
32 supranuclear palsy, progressive, 1 9.5 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
33 mitochondrial complex i deficiency, nuclear type 1 9.3 SNCA PRKN PLA2G6 PINK1 PARK7 LRRK2
34 neurodegeneration with brain iron accumulation 2b 9.2 PLA2G6 PANK2 PANK1 FA2H DCAF17 C19orf12
35 movement disease 9.2 SNCA PRKN PLA2G6 PINK1 PARK7 PANK2
36 dementia, lewy body 9.2 VPS35 SNCA PRKN PINK1 PARK7 LRRK2
37 spastic paraplegia 35, autosomal recessive 9.1 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
38 amyotrophic lateral sclerosis 1 9.1 SNCA PRKN PINK1 PARK7 LRRK2 FA2H
39 early-onset parkinson's disease 9.0 SNCA PRKN PLA2G6 PINK1 PARK7 LRRK2
40 neurodegeneration with brain iron accumulation 6 8.6 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
41 neuroaxonal dystrophy 8.6 WDR45 SNCA PLA2G6 PANK2 PANK1 FA2H
42 neurodegeneration with brain iron accumulation 4 8.5 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
43 neurodegeneration with brain iron accumulation 3 8.5 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
44 neurodegeneration with brain iron accumulation 5 8.5 WDR45 PLA2G6 PANK2 PANK1 FA2H DCAF17
45 parkinson disease 15, autosomal recessive early-onset 8.3 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7
46 neurodegeneration with brain iron accumulation 2a 8.2 WDR45 SNCA PLA2G6 PANK2 PANK1 FA2H
47 neurodegeneration with brain iron accumulation 1 8.2 WDR45 SNCA PLA2G6 PANK2 PANK1 FA2H
48 aceruloplasminemia 7.7 WDR45 SNCA PLA2G6 PINK1 PARK7 PANK2
49 neurodegeneration with brain iron accumulation 7.1 WDR45 SNCA PRKN PLA2G6 PINK1 PARK7

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



Diseases related to Juvenile-Onset Parkinson's Disease

Symptoms & Phenotypes for Juvenile-Onset Parkinson's Disease

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATP13A2 FA2H FBXO7 LRRK2 PANK1 PANK2
2 cellular MP:0005384 9.93 ATP13A2 DCAF17 FBXO7 LRRK2 PANK1 PANK2
3 homeostasis/metabolism MP:0005376 9.73 ATP13A2 FA2H FBXO7 LRRK2 PANK1 PANK2
4 nervous system MP:0003631 9.4 ATP13A2 ATP13A5 DNAJC6 FA2H LRRK2 PANK2

Drugs & Therapeutics for Juvenile-Onset Parkinson's Disease

Search Clinical Trials , NIH Clinical Center for Juvenile-Onset Parkinson's Disease

Genetic Tests for Juvenile-Onset Parkinson's Disease

Anatomical Context for Juvenile-Onset Parkinson's Disease

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

40
Brain

Publications for Juvenile-Onset Parkinson's Disease

Articles related to Juvenile-Onset Parkinson's Disease:

(show all 17)
# Title Authors PMID Year
1
Cutaneous adverse drug reaction after continuous subcutaneous apomorphine infusion. 61
31991500 2020
2
Heparan Sulfate Structure Affects Autophagy, Lifespan, Responses to Oxidative Stress, and Cell Degeneration in Drosophila parkin Mutants. 61
31672849 2020
3
Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population. 61
31564376 2019
4
ATP13A2-related juvenile-onset Parkinson disease. 61
30144971 2019
5
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. 61
29903538 2018
6
Differential expression of PARK2 splice isoforms in an in vitro model of dopaminergic-like neurons exposed to toxic insults mimicking Parkinson's disease. 61
28688199 2018
7
Parkin Deficiency Reduces Hippocampal Glutamatergic Neurotransmission by Impairing AMPA Receptor Endocytosis. 61
27903732 2016
8
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. 61
27039055 2016
9
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 61
26703368 2016
10
F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy. 61
26310625 2015
11
HSPA1A-independent suppression of PARK2 C289G protein aggregation by human small heat shock proteins. 61
25022755 2014
12
Compact Parkin only: insights into the structure of an autoinhibited ubiquitin ligase. 61
23852447 2013
13
Differential effects of Parkin and its mutants on protein aggregation, the ubiquitin-proteasome system, and neuronal cell death in human neuroblastoma cells. 61
17472700 2007
14
alpha-synuclein and Parkinson's disease: the first roadblock. 61
17125588 2006
15
Role of dopamine transporter imaging in routine clinical practice. 61
14673877 2003
16
Association between early-onset Parkinson's disease and mutations in the parkin gene. 61
10824074 2000
17
Juvenile onset Parkinson's disease. 61
3825691 1987

Variations for Juvenile-Onset Parkinson's Disease

Expression for Juvenile-Onset Parkinson's Disease

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

Pathways for Juvenile-Onset Parkinson's Disease

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

# Super pathways Score Top Affiliating Genes
1 11.7 SNCA PRKN PINK1 PARK7 LRRK2 FBXO7
2 11.28 SNCA PRKN PINK1 PARK7 LRRK2
3 10.94 SNCA PRKN PARK7
4 10.61 PANK2 PANK1 COASY

GO Terms for Juvenile-Onset Parkinson's Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.32 WDR45 VPS35 SNCA PRKN PLA2G6 PINK1
2 cell GO:0005623 9.92 SNCA PRKN PLA2G6 PARK7 LRRK2 ATP13A5
3 cytosol GO:0005829 9.86 WDR45 VPS35 SNCA PRKN PLA2G6 PINK1
4 neuron projection GO:0043005 9.85 VPS35 PRKN PARK7 LRRK2 ATP13A2
5 mitochondrial outer membrane GO:0005741 9.73 SNCA PINK1 LRRK2 COASY
6 postsynapse GO:0098794 9.67 VPS35 SNCA LRRK2
7 mitochondrial intermembrane space GO:0005758 9.56 SNCA PINK1 PARK7 PANK2
8 presynapse GO:0098793 9.55 VPS35 SNCA PRKN PARK7 DNAJC6
9 inclusion body GO:0016234 9.51 SNCA LRRK2
10 Lewy body GO:0097413 9.4 PRKN PINK1
11 mitochondrion-derived vesicle GO:0099073 9.37 VPS35 PRKN
12 mitochondrion GO:0005739 9.36 VPS35 SNCA PRKN PLA2G6 PINK1 PARK7

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10 VPS35 PRKN PINK1 PARK7
2 protein stabilization GO:0050821 9.98 PRKN PINK1 PARK7 CRYAA
3 negative regulation of neuron apoptotic process GO:0043524 9.96 SNCA PRKN PINK1 PARK7
4 response to oxidative stress GO:0006979 9.94 PRKN PINK1 LRRK2 C19orf12
5 mitochondrion organization GO:0007005 9.91 PRKN PINK1 PARK7 LRRK2
6 regulation of protein stability GO:0031647 9.9 VPS35 PRKN LRRK2 FBXO7
7 cellular calcium ion homeostasis GO:0006874 9.89 ATP13A5 ATP13A2 ATP13A1
8 negative regulation of protein phosphorylation GO:0001933 9.88 SNCA PRKN PARK7 LRRK2
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.87 SNCA PINK1 PARK7
10 cation transport GO:0006812 9.87 ATP13A5 ATP13A2 ATP13A1
11 negative regulation of cell death GO:0060548 9.87 VPS35 PRKN PARK7
12 adult locomotory behavior GO:0008344 9.85 SNCA PRKN PARK7
13 protein destabilization GO:0031648 9.84 VPS35 SNCA PRKN
14 cellular response to oxidative stress GO:0034599 9.83 SNCA PINK1 PARK7 LRRK2 ATP13A2
15 regulation of reactive oxygen species metabolic process GO:2000377 9.79 SNCA PRKN PINK1
16 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 PRKN PARK7 LRRK2
17 synaptic transmission, dopaminergic GO:0001963 9.76 SNCA PRKN PARK7
18 autophagy of mitochondrion GO:0000422 9.76 WDR45 PRKN PINK1 FBXO7
19 negative regulation of oxidative stress-induced neuron death GO:1903204 9.74 PINK1 PARK7 FBXO7
20 positive regulation of mitochondrial fission GO:0090141 9.73 VPS35 PRKN PINK1
21 regulation of neurotransmitter secretion GO:0046928 9.72 SNCA PRKN
22 regulation of neuron death GO:1901214 9.72 SNCA LRRK2
23 regulation of protein ubiquitination GO:0031396 9.72 PRKN PINK1
24 negative regulation of oxidative stress-induced cell death GO:1903202 9.72 PRKN PINK1 PARK7
25 regulation of autophagy of mitochondrion GO:1903146 9.71 PINK1 ATP13A2
26 cellular response to dopamine GO:1903351 9.71 PRKN LRRK2
27 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.71 PARK7 LRRK2
28 negative regulation of autophagosome assembly GO:1902902 9.71 PINK1 LRRK2
29 coenzyme A biosynthetic process GO:0015937 9.71 PANK2 PANK1 COASY
30 dopamine metabolic process GO:0042417 9.7 SNCA PRKN
31 negative regulation of macroautophagy GO:0016242 9.7 PINK1 LRRK2
32 cellular response to manganese ion GO:0071287 9.7 PRKN LRRK2 ATP13A2
33 regulation of protein targeting to mitochondrion GO:1903214 9.69 PRKN PINK1
34 regulation of locomotion GO:0040012 9.69 SNCA LRRK2 FBXO7
35 cellular response to toxic substance GO:0097237 9.68 PRKN PINK1
36 protein localization to mitochondrion GO:0070585 9.68 PRKN LRRK2
37 positive regulation of histone deacetylase activity GO:1901727 9.68 PINK1 LRRK2
38 regulation of cellular response to oxidative stress GO:1900407 9.67 PRKN PINK1
39 positive regulation of autophagy of mitochondrion GO:1903599 9.67 PRKN PARK7 FBXO7
40 regulation of mitochondrial membrane potential GO:0051881 9.67 PRKN PINK1 PARK7 PANK2
41 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.66 PRKN PINK1
42 zinc ion homeostasis GO:0055069 9.66 PRKN ATP13A2
43 negative regulation of lysosomal protein catabolic process GO:1905166 9.65 VPS35 ATP13A2
44 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.65 PRKN PARK7
45 coenzyme biosynthetic process GO:0009108 9.65 PANK2 PANK1 COASY
46 positive regulation of dopamine receptor signaling pathway GO:0060161 9.64 VPS35 LRRK2
47 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.63 PINK1 PARK7
48 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.63 PINK1 PARK7
49 positive regulation of dopamine biosynthetic process GO:1903181 9.62 VPS35 PARK7
50 negative regulation of late endosome to lysosome transport GO:1902823 9.62 VPS35 LRRK2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.76 PINK1 PANK2 PANK1 LRRK2 COASY ATP13A5
2 ubiquitin-specific protease binding GO:1990381 9.37 PRKN PARK7
3 phospholipase binding GO:0043274 9.32 SNCA PRKN
4 cuprous ion binding GO:1903136 9.26 SNCA PARK7
5 cupric ion binding GO:1903135 8.96 PARK7 ATP13A2
6 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Juvenile-Onset Parkinson's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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