JP
MCID: ATS021
MIFTS: 26

Autosomal Recessive Juvenile Parkinson Disease (JP) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Autosomal Recessive Juvenile Parkinson Disease

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Sources:
65Wikipedia, 33MalaCards
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Wikipedia:65 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 parkinson disease, juvenile, type 2. An important gene associated with Autosomal Recessive Juvenile Parkinson Disease is PARK2 (parkin RBR E3 ubiquitin protein ligase), and among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Parkinsons Disease Pathway. The compound calcium have been mentioned in the context of this disorder.

Aliases & Classifications for Autosomal Recessive Juvenile Parkinson Disease

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43NIH Rare Diseases, 62UMLS, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

autosomal recessive juvenile parkinson disease 43 62
parkinson disease 2 43 22
parkinsonism, early onset, with diurnal fluctuation 43
parkinson disease autosomal recessive, early onset 43
juvenile parkinsonism 43
park2 43
pdj 43
jp 43


Related Diseases for Autosomal Recessive Juvenile Parkinson Disease

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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 all 45)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.7PARK2
2parkinson disease, juvenile, type 210.7
3juvenile polyposis syndrome10.4
4leprosy10.4
5neuronitis10.4
6parkinson disease, late-onset10.3
7essential tremor10.3
8tremor10.3
9neuronal intranuclear inclusion disease10.3
10parkin type of early-onset parkinson disease10.2
11juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
12pathological gambling10.2
13dystonia10.2
14angelman syndrome10.1
15paratyphoid fever10.1
16bell's palsy10.1
17thanatophoric dysplasia10.1
18focal dystonia10.1
19limb-girdle muscular dystrophy type 2h10.1
20classic rett syndrome10.1
21hypersomnia10.1
22rem sleep behavior disorder10.0
23colorectal cancer10.0
24lynch syndrome10.0
25gliomatosis cerebri10.0
26dementia10.0
27hypogonadism10.0
28ovarian cancer10.0
29paraplegia10.0
30drug induced dyskinesia10.0
31spasticity10.0
32parkinson disease 19, juvenile-onset10.0
33prokr2-related isolated gonadotropin-releasing hormone deficiency10.0
34pulmonary tuberculosis10.0
35adenocarcinoma10.0
36adenoma10.0
37autism spectrum disorder10.0
38lung adenocarcinoma10.0
39renal cell carcinoma10.0
40tuberculosis10.0
41clear cell renal cell carcinoma10.0
42glioma somatic10.0
43parkinson disease 110.0
44adenocarcinoma of lung, somatic10.0
45adenocarcinoma, ovarian, somatic10.0

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



Diseases related to autosomal recessive juvenile parkinson disease

Symptoms for Autosomal Recessive Juvenile Parkinson Disease

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Drugs & Therapeutics for Autosomal Recessive Juvenile Parkinson Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Juvenile Parkinson Disease

Search NIH Clinical Center for Autosomal Recessive Juvenile Parkinson Disease

Genetic Tests for Autosomal Recessive Juvenile Parkinson Disease

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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

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Animal Models for Autosomal Recessive Juvenile Parkinson Disease or affiliated genes

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Publications for Autosomal Recessive Juvenile Parkinson Disease

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52PubMed
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Articles related to Autosomal Recessive Juvenile Parkinson Disease:

idTitleAuthorsYear
1
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. (12925569)
2003

Variations for Autosomal Recessive Juvenile Parkinson Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Autosomal Recessive Juvenile Parkinson Disease:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1PARK2NM_004562.2(PARK2): c.1292G> T (p.Cys431Phe)single nucleotide variantPathogenicrs397514694GRCh37Chr 6, 161771237: 161771237
2PARK2NM_004562.2: c.172-?_871+?deldeletionPathogenic
3PARK2NM_004562.2: c.413-?_534+?deldeletionPathogenic
4PARK2NM_004562.2(PARK2): c.719C> G (p.Thr240Arg)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
5PARK2NM_004562.2(PARK2): c.931C> T (p.Gln311Ter)single nucleotide variantPathogenicrs137853055GRCh37Chr 6, 161990389: 161990389
6PARK2NM_004562.2(PARK2): c.245C> A (p.Ala82Glu)single nucleotide variantPathogenicrs55774500GRCh37Chr 6, 162683724: 162683724
7PARK2NM_004562.2: c.8-?_171+?deldeletionPathogenic
8PARK2NM_004562.2: c.872-?_1083+?deldeletionPathogenic
9PARK2NM_004562.2(PARK2): c.1358G> A (p.Trp453Ter)single nucleotide variantPathogenicrs137853056GRCh37Chr 6, 161771171: 161771171
10PARK2NM_004562.2(PARK2): c.483A> T (p.Lys161Asn)single nucleotide variantPathogenicrs137853057GRCh37Chr 6, 162622214: 162622214
11PARK2NM_004562.2: c.735-?_871+?deldeletionPathogenic
12PARK2NM_004562.2(PARK2): c.635G> A (p.Cys212Tyr)single nucleotide variantPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
13PARK2NM_004562.2(PARK2): c.167T> A (p.Val56Glu)single nucleotide variantPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
14PARK2NM_004562.2(PARK2): c.823C> T (p.Arg275Trp)single nucleotide variantPathogenicrs34424986GRCh37Chr 6, 162206852: 162206852
15PARK2NM_004562.2(PARK2): c.633A> T (p.Lys211Asn)single nucleotide variantPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
16NM_004562.2(PARK2): c.7+1G> Tsingle nucleotide variantPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
17PARK2NM_004562.2(PARK2): c.719C> T (p.Thr240Met)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349

Expression for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

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2BioGPS, 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

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 53QIAGEN
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Pathways related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.1SYT11, PARK2
29.1SYT11, PARK2

Compounds for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Autosomal Recessive Juvenile Parkinson Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1112.1SYT11, PARK2

GO Terms for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

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Products for genes affiliated with Autosomal Recessive Juvenile Parkinson Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Juvenile Parkinson Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet