MCID: JVN058
MIFTS: 21

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 kufor-rakeb syndrome and parkinson disease 19a, juvenile-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 Cardiac conduction and Ion channel transport.

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
Parkinson Disease Type 9 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 19)
# Related Disease Score Top Affiliating Genes
1 kufor-rakeb syndrome 30.3 PLA2G6 FBXO7 ATP13A5 ATP13A2 ATP13A1
2 parkinson disease 19a, juvenile-onset 11.9
3 parkinson disease, late-onset 11.8
4 blepharitis 10.1 PLA2G6 CRYAA
5 dystonia 10.0
6 atypical juvenile parkinsonism 10.0
7 early-onset parkinson's disease 9.8 DNAJC6 ATP13A2
8 parkinson disease 15, autosomal recessive early-onset 9.7 PLA2G6 FBXO7 ATP13A2
9 neurodegeneration with brain iron accumulation 2a 9.7 PLA2G6 FA2H
10 spinocerebellar ataxia, autosomal recessive 21 9.7 FA2H ATP13A2
11 neuroaxonal dystrophy 9.7 PLA2G6 FA2H
12 neurodegeneration with brain iron accumulation 3 9.6 PLA2G6 FA2H
13 spastic paraplegia 76, autosomal recessive 9.6 FA2H ATP13A2
14 neurodegeneration with brain iron accumulation 1 9.6 PLA2G6 FA2H
15 spastic paraplegia 73, autosomal dominant 9.5 FA2H ATP13A2
16 neurodegeneration with brain iron accumulation 9.4 PLA2G6 FA2H ATP13A2
17 aceruloplasminemia 9.4 PLA2G6 FA2H ATP13A2
18 neurodegeneration with brain iron accumulation 2b 9.3 PLA2G6 FBXO7 FA2H
19 hereditary spastic paraplegia 9.3 PLA2G6 FA2H ATP13A2

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 14)
# Title Authors PMID Year
1
ATP13A2-related juvenile-onset Parkinson disease. 38
30144971 2019
2
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. 38
29903538 2018
3
Differential expression of PARK2 splice isoforms in an in vitro model of dopaminergic-like neurons exposed to toxic insults mimicking Parkinson's disease. 38
28688199 2018
4
Parkin Deficiency Reduces Hippocampal Glutamatergic Neurotransmission by Impairing AMPA Receptor Endocytosis. 38
27903732 2016
5
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models. 38
27039055 2016
6
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 38
26703368 2016
7
F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy. 38
26310625 2015
8
HSPA1A-independent suppression of PARK2 C289G protein aggregation by human small heat shock proteins. 38
25022755 2014
9
Compact Parkin only: insights into the structure of an autoinhibited ubiquitin ligase. 38
23852447 2013
10
Differential effects of Parkin and its mutants on protein aggregation, the ubiquitin-proteasome system, and neuronal cell death in human neuroblastoma cells. 38
17472700 2007
11
alpha-synuclein and Parkinson's disease: the first roadblock. 38
17125588 2006
12
Role of dopamine transporter imaging in routine clinical practice. 38
14673877 2003
13
Association between early-onset Parkinson's disease and mutations in the parkin gene. 38
10824074 2000
14
Juvenile onset Parkinson's disease. 38
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

GO Terms for Juvenile-Onset Parkinson's Disease

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 ATP13A5 ATP13A2 ATP13A1
2 cellular calcium ion homeostasis GO:0006874 9.33 ATP13A5 ATP13A2 ATP13A1
3 negative regulation of neuron death GO:1901215 9.32 FBXO7 ATP13A2
4 cation transport GO:0006812 9.13 ATP13A5 ATP13A2 ATP13A1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.62 ATP13A2 ATP13A1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 PLA2G6 DNAJC6 ATP13A5 ATP13A2 ATP13A1
2 ATPase activity GO:0016887 9.13 ATP13A5 ATP13A2 ATP13A1
3 cation-transporting ATPase activity GO:0019829 8.32 ATP13A2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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