JP
MCID: ATS021
MIFTS: 27

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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Wikipedia:65 Parkin is a protein which in humans is encoded by the PARK2 gene. The precise function of this protein... more...

MalaCards based summary: 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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Autosomal Recessive Juvenile Parkinson Disease, Aliases & Descriptions:

Name: Autosomal Recessive Juvenile Parkinson Disease 42 62
Parkinson Disease 2 42 22
Park2 42 62
Pdj 42 62
Parkinsonism, Early Onset, with Diurnal Fluctuation 42
 
Parkinson Disease Autosomal Recessive, Early Onset 42
Parkinson Disease 2, Autosomal Recessive Juvenile 62
Parkinsonism, Juvenile 62
Juvenile Parkinsonism 42
Jp 42


Classifications:

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


Related Diseases for Autosomal Recessive Juvenile Parkinson Disease

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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 54)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.8PARK2
2parkinson disease, juvenile, type 210.7
3juvenile polyposis syndrome10.4
4neuronitis10.4
5leprosy10.4
6parkinson disease, late-onset10.3
7neuronal intranuclear inclusion disease10.3
8essential tremor10.3
9tremor10.3
10juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
11parkin type of early-onset parkinson disease10.2
12pathological gambling10.2
13dystonia10.2
14bardet-biedl syndrome10.1
15angelman syndrome10.1
16thanatophoric dysplasia10.1
17bell's palsy10.1
18paratyphoid fever10.1
19focal dystonia10.1
20synucleinopathy10.1
21limb-girdle muscular dystrophy type 2h10.1
22classic rett syndrome10.1
23hypersomnia10.1
24parkinson disease 110.1
25adenocarcinoma, ovarian, somatic10.1
26colorectal cancer10.0
27rem sleep behavior disorder10.0
28lynch syndrome10.0
29gliomatosis cerebri10.0
30hypogonadism10.0
31ovarian cancer10.0
32paraplegia10.0
33drug induced dyskinesia10.0
34spasticity10.0
35parkinson disease 19, juvenile-onset10.0
36acute lymphoblastic leukemia10.0
37chronic myeloid leukemia10.0
38leukemia10.0
39lung adenocarcinoma10.0
40renal cell carcinoma10.0
41axonal neuropathy10.0
42pulmonary tuberculosis10.0
43adenocarcinoma10.0
44adenoma10.0
45autism spectrum disorder10.0
46lymphoblastic leukemia10.0
47myeloid leukemia10.0
48neuropathy10.0
49tuberculosis10.0
50clear cell renal cell carcinoma10.0

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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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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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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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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Clinvar genetic disease variations for Autosomal Recessive Juvenile Parkinson Disease:

6 (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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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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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 Degradation37
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:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1calcium44 50 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
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Sources for Autosomal Recessive Juvenile Parkinson Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet