MCID: JVN058
MIFTS: 25

Juvenile-Onset Parkinson's Disease

Categories: Eye diseases, 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 kufor-rakeb syndrome and parkinson disease, late-onset. 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 Prion disease and Chks in Checkpoint Regulation.

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 33)
# Related Disease Score Top Affiliating Genes
1 kufor-rakeb syndrome 32.1 SNCA PRKN ATP13A2
2 parkinson disease, late-onset 30.1 SNCAIP SNCA RING1 PRKN GPR37 DNAJC6
3 parkinson disease 19a, juvenile-onset 11.3
4 parkinson disease 10 10.2 SNCA PRKN
5 color agnosia 10.2 SNCA PRKN
6 postencephalitic parkinson disease 10.2 SNCA PRKN
7 parkinson disease 15, autosomal recessive early-onset 10.1 SNCA PRKN ATP13A2
8 neurodegeneration with brain iron accumulation 1 10.1 SNCA ATP13A2
9 parkinson disease 1, autosomal dominant 10.1 SNCA PRKN ATP13A2
10 rem sleep behavior disorder 10.1 SNCA PRKN
11 choreatic disease 10.1 SNCA PRKN ATP13A2
12 supranuclear palsy, progressive, 1 10.0 SNCA PRKN ATP13A2
13 neurodegeneration with brain iron accumulation 10.0 SNCA PRKN ATP13A2
14 gaucher's disease 10.0 SNCA PRKN ATP13A2
15 parkinsonism 10.0
16 dystonia 10.0
17 parkinson disease 2, autosomal recessive juvenile 10.0 SNCA PRKN DNAJC6
18 atypical juvenile parkinsonism 10.0
19 prion disease 10.0 SNCAIP SNCA PRKN
20 movement disease 10.0 SNCA PRKN ATP13A2
21 pick disease of brain 10.0 SNCAIP SNCA PRKN
22 sphingolipidosis 10.0 SNCA PRKN CRYAA ATP13A2
23 parkinson disease 3, autosomal dominant 9.9 SNCAIP SNCA PRKN ATP13A2
24 dementia, lewy body 9.9 SNCAIP SNCA PRKN ATP13A2
25 dementia 9.9 SNCAIP SNCA PRKN ATP13A2
26 gaucher disease, type i 9.9 SNCA PRKN ATP13A2
27 parkinson disease 21 9.9 PRKN DNAJC6 DNAJC13
28 early-onset parkinson's disease 9.8 SNCA PRKN DNAJC6 CRYAA ATP13A2
29 dysautonomia 9.8 SNCA DNAJC13
30 tremor 9.8 SNCA PRKN DNAJC13
31 essential tremor 9.7 SNCA PRKN DNAJC13
32 autosomal dominant cerebellar ataxia 9.7 SNCA PRKN CRYAA
33 hereditary late-onset parkinson disease 9.7 SNCA DNAJC13

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

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

Publications for Juvenile-Onset Parkinson's Disease

Articles related to Juvenile-Onset Parkinson's Disease:

(show all 18)
# Title Authors PMID Year
1
Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish. 61
32529115 2020
2
A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson's Disease Arising from Parkin Mutations. 61
33019779 2020
3
Heparan Sulfate Structure Affects Autophagy, Lifespan, Responses to Oxidative Stress, and Cell Degeneration in Drosophila parkin Mutants. 61
31672849 2020
4
Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population. 61
31564376 2019
5
ATP13A2-related juvenile-onset Parkinson disease. 61
30144971 2019
6
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. 61
29903538 2018
7
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
8
Parkin Deficiency Reduces Hippocampal Glutamatergic Neurotransmission by Impairing AMPA Receptor Endocytosis. 61
27903732 2016
9
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. 61
27039055 2016
10
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 61
26703368 2016
11
F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy. 61
26310625 2015
12
HSPA1A-independent suppression of PARK2 C289G protein aggregation by human small heat shock proteins. 61
25022755 2014
13
Compact Parkin only: insights into the structure of an autoinhibited ubiquitin ligase. 61
23852447 2013
14
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
15
alpha-synuclein and Parkinson's disease: the first roadblock. 61
17125588 2006
16
Role of dopamine transporter imaging in routine clinical practice. 61
14673877 2003
17
Association between early-onset Parkinson's disease and mutations in the parkin gene. 61
10824074 2000
18
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
Show member pathways
12.48 SNCAIP SNCA SEPTIN5 PRKN GPR37
2
Show member pathways
12.33 SNCAIP SNCA SEPTIN5 PRKN GPR37
3 12.19 UBE2K SNCA PRKN GPR37 ATP13A2
4
Show member pathways
11.71 SNCAIP SNCA SEPTIN5 PRKN GPR37
5 10.95 SNCAIP SNCA SEPTIN5 PRKN GPR37
6 10.91 SNCA PRKN
7 10.8 SNCAIP SEPTIN5 PRKN GPR37

GO Terms for Juvenile-Onset Parkinson's Disease

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 USP35 USP30 UBE2K SNCAIP SNCA RING1
2 presynapse GO:0098793 9.5 SNCA PRKN DNAJC6
3 synaptic vesicle GO:0008021 9.43 SNCAIP SNCA SEPTIN5
4 Lewy body GO:0097413 9.16 PRKN ARIH1
5 ubiquitin ligase complex GO:0000151 8.92 RING1 PRKN GPR37 ARIH1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 9.76 ARIH1 FBXO40 PRKN UBE2K
2 negative regulation of neuron death GO:1901215 9.58 ATP13A2 PRKN SNCA
3 autophagy of mitochondrion GO:0000422 9.56 USP30 PRKN
4 regulation of dopamine secretion GO:0014059 9.55 SNCA PRKN
5 ubiquitin-dependent protein catabolic process GO:0006511 9.55 ARIH1 PRKN UBE2K USP30 USP35
6 regulation of reactive oxygen species metabolic process GO:2000377 9.54 SNCA PRKN
7 regulation of mitochondrion organization GO:0010821 9.52 PRKN ATP13A2
8 synaptic transmission, dopaminergic GO:0001963 9.51 PRKN SNCA
9 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.49 PRKN UBE2K
10 dopamine biosynthetic process GO:0042416 9.48 GPR37 SNCA
11 cellular response to manganese ion GO:0071287 9.43 ATP13A2 PRKN
12 free ubiquitin chain polymerization GO:0010994 9.37 PRKN UBE2K
13 dopamine uptake involved in synaptic transmission GO:0051583 9.32 PRKN SNCA
14 zinc ion homeostasis GO:0055069 9.26 ATP13A2 PRKN
15 regulation of neurotransmitter secretion GO:0046928 9.13 SNCAIP SNCA PRKN
16 dopamine metabolic process GO:0042417 8.8 SNCAIP SNCA PRKN

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.72 SNCA PRKN FBXO40 ATP13A2 ARIH1
2 ubiquitin protein ligase activity GO:0061630 9.46 RING1 PRKN FBXO40 ARIH1
3 ubiquitin conjugating enzyme binding GO:0031624 9.37 PRKN ARIH1
4 phospholipase binding GO:0043274 9.26 SNCA PRKN
5 Hsp70 protein binding GO:0030544 9.13 SNCA PRKN GPR37
6 ubiquitin protein ligase binding GO:0031625 9.02 UBE2K SNCAIP PRKN GPR37 ARIH1

Sources for Juvenile-Onset Parkinson's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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