JP
MCID: ATS021
MIFTS: 31

Autosomal Recessive Juvenile Parkinson Disease (JP) malady

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Summaries for Autosomal Recessive Juvenile Parkinson Disease

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64Wikipedia, 33MalaCards
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Wikipedia:64 Parkin is a protein which in humans is encoded by the PARK2 gene. The precise function of this protein... more...

MalaCards: Autosomal Recessive Juvenile Parkinson Disease, also known as parkinson disease 2, is related to parkinson's disease and lafora disease. An important gene associated with Autosomal Recessive Juvenile Parkinson Disease is PACRG (PARK2 co-regulated), and among its related pathways are TGF-Beta Pathway and Cell Cycle. The compound geldanamycin have been mentioned in the context of this disorder.

Aliases & Classifications for Autosomal Recessive Juvenile Parkinson Disease

Sources:
43NIH Rare Diseases, 61UMLS, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

autosomal recessive juvenile parkinson disease 43 61
parkinson disease 2 43 22
parkinson disease autosomal recessive, early onset 43
juvenile parkinsonism 43
park2 43
jp 43


Related Diseases for Autosomal Recessive Juvenile Parkinson Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases in the parkinson disease 15, autosomal recessive family:

autosomal recessive juvenile parkinson disease parkinson disease 7, autosomal recessive early-onset

Diseases related to Autosomal Recessive Juvenile Parkinson Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.3PARK2, PACRG, UBC
2lafora disease30.2PARK2
3fanconi's anemia30.1PARK2
4juvenile polyposis syndrome10.4
5parkinson disease, juvenile, type 210.3
6autosomal recessive disease10.3
7neuronitis10.3
8adenocarcinoma, ovarian, somatic10.3
9neuronal intranuclear inclusion disease10.2
10levodopa-unresponsive juvenile parkinsonism10.2
11juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
12bell's palsy10.2
13thanatophoric dysplasia10.2
14essential tremor10.2
15adenocarcinoma10.2
16limb-girdle muscular dystrophy type 2h10.2
17classic rett syndrome10.2
18hypersomnia10.2
19tremor10.2
20adenocarcinoma of lung, somatic10.2
21pulmonary tuberculosis10.1
22angelman syndrome10.1
23bardet-biedl syndrome10.1
24alzheimer's disease10.1
25chronic myeloid leukemia10.1
26adenoma10.1
27arthritis10.1
28autism spectrum disorder10.1
29tuberculosis10.1
30parkin type of early-onset parkinson disease10.1
31myoclonus epilepsy10.1
32mental retardation10.1
33myoclonus10.1
34parkinson disease, late-onset10.1
35pink1 type of young-onset parkinson disease10.0
36prokr2-related isolated gonadotropin-releasing hormone deficiency10.0
37rett syndrome10.0
38machado-joseph disease10.0
39cystic fibrosis10.0
40lateral sclerosis10.0
41gaucher's disease10.0
42cerebritis10.0
43restless legs syndrome10.0
44inclusion body myositis10.0
45frontotemporal dementia10.0
46limb-girdle muscular dystrophy10.0
47progressive supranuclear palsy10.0
48nasopharyngitis10.0
49paratyphoid fever10.0
50amyloidosis10.0

Graphical network of the top 20 diseases related to Autosomal Recessive Juvenile Parkinson Disease:



Diseases related to autosomal recessive juvenile parkinson disease

Clinical Features for Autosomal Recessive Juvenile Parkinson Disease

Drugs & Therapeutics for Autosomal Recessive Juvenile Parkinson Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Autosomal Recessive Juvenile Parkinson Disease

Search CenterWatch for Autosomal Recessive Juvenile Parkinson Disease

Genetic Tests for Autosomal Recessive Juvenile Parkinson Disease

Sources:
22GTR
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Genetic tests related to Autosomal Recessive Juvenile Parkinson Disease:

id Genetic test Affiliating Genes
1 Parkinson Disease 222

Anatomical Context for Autosomal Recessive Juvenile Parkinson Disease

Animal Models for Autosomal Recessive Juvenile Parkinson Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Autosomal Recessive Juvenile Parkinson Disease

Sources:
51PubMed
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Articles related to Autosomal Recessive Juvenile Parkinson Disease:

idTitleAuthorsYear
1
Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain. (21348451)
2011
2
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. (19801972)
2009
3
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. (12925569)
2003
4
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. (9802278)
1998

Genetic Variations for Autosomal Recessive Juvenile Parkinson Disease

Expression for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

Search GEO for disease gene expression data for Autosomal Recessive Juvenile Parkinson Disease.

Pathways for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
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Pathways related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7PSMD4
2
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9.7PSMD4
39.5SYT11, PARK2
49.5PARK2, UBC
59.3UBC, TP53
69.3UBC, TP53
7
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9.3UBC, TP53
89.3UBC, TP53
99.3UBC, TP53
109.3TP53, UBC
11
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9.2PARK2, PSMD4
12
Hide members
8.7UBC, PARK2, PSMD4
138.5TP53, PSMD4, UBC
14
Hide members
8.5TP53, UBC, PSMD4
15
Hide members
8.2UBC, PSMD4, SYT11, PARK2

Compounds for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 11DrugBank
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Compounds related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1geldanamycin45 50 60 1112.4TP53, PARK2

GO Terms for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

Sources:
16Gene Ontology
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Biological processes related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.6UBC, TP53
2negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.3UBC, PSMD4
3positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.3UBC, PSMD4
4regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514399.2UBC, PSMD4
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.2PSMD4, UBC
6antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.1UBC, PSMD4
7antigen processing and presentation of peptide antigen via MHC class IGO:0024749.1UBC, PSMD4
8anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:0311459.0UBC, PSMD4
9cellular response to hypoxiaGO:0714569.0TP53, UBC
10protein polyubiquitinationGO:0002098.9PARK2, UBC, PSMD4
11DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069778.8UBC, PSMD4, TP53
12regulation of apoptotic processGO:0429818.7PSMD4, UBC, TP53
13negative regulation of apoptotic processGO:0430668.7UBC, PSMD4, TP53

Molecular functions related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.3TP53, PARK2
2protease bindingGO:0020209.0TP53, UBC
3identical protein bindingGO:0428028.6TP53, PARK2, PSMD4

Products for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

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  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Juvenile Parkinson Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet