MCID: PRK024
MIFTS: 29

Parkinson Disease, Juvenile, Type 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cancer diseases, Cardiovascular diseases, Mental diseases categories

Summaries for Parkinson Disease, Juvenile, Type 2

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MalaCards based summary: Parkinson Disease, Juvenile, Type 2, also known as parkinson disease 2, autosomal recessive juvenile, is related to young adult-onset parkinsonism and parkinson disease, late-onset, and has symptoms including autosomal recessive inheritance, gait disturbance and parkinsonism. An important gene associated with Parkinson Disease, Juvenile, Type 2 is PARK2 (parkin RBR E3 ubiquitin protein ligase).

Description from OMIM:45 600116

Aliases & Classifications for Parkinson Disease, Juvenile, Type 2

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Parkinson Disease, Juvenile, Type 2, Aliases & Descriptions:

Name: Parkinson Disease, Juvenile, Type 2 45 10
Parkinson Disease 2, Autosomal Recessive Juvenile 45 60
Parkinson Disease 2 41 22
Parkinsonism, Early Onset, with Diurnal Fluctuation 41
Parkinson Disease Autosomal Recessive, Early Onset 41
Autosomal Recessive Juvenile Parkinson Disease 41
 
Parkinsonism, Juvenile 60
Juvenile Parkinsonism 41
Park2 41
Pdj 41
Jp 41


Classifications:



External Ids:

OMIM45 600116

Related Diseases for Parkinson Disease, Juvenile, Type 2

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Diseases in the Secondary Parkinson Disease family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 19, Juvenile-Onset
Parkinson Disease 10 Parkinson Disease, Late-Onset
Parkinson Disease 16 Parkinson Disease 18
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 12 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease 8 Parkinson Disease 15, Autosomal Recessive
Parkinson Disease 14 Parkinson Disease 6, Early Onset
parkinson disease, juvenile, type 2 Lrrk2-Related Parkinson Disease
Parkinson Disease Type 3 Parkinson Disease Type 9
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Htra2-Related Parkinson Disease Vps35-Related Parkinson Disease
Fbxo7-Related Parkinson Disease

Diseases related to Parkinson Disease, Juvenile, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1young adult-onset parkinsonism10.8
2parkinson disease, late-onset10.5
3polyposis, juvenile intestinal10.4
4leprosy10.4
5neuronitis10.4
6neuronal intranuclear inclusion disease10.3
7atypical juvenile parkinsonism10.3
8ovarian cancer, somatic10.3
9essential tremor10.3
10tremor10.3
11parkin type of early-onset parkinson disease10.2
12juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.2
13pathological gambling10.2
14dystonia10.2
15thanatophoric dysplasia, type i10.1
16angelman syndrome10.1
17lung cancer10.1
18bardet-biedl syndrome10.1
19paratyphoid fever10.1
20bell's palsy10.1
21focal dystonia10.1
22synucleinopathy10.1
23classic rett syndrome10.1
24hypersomnia10.1
25colorectal cancer10.0
26rem sleep behavior disorder10.0
27lynch syndrome10.0
28gliomatosis cerebri10.0
29dementia10.0
30hypogonadism10.0
31paraplegia10.0
32drug induced dyskinesia10.0
33spasticity10.0
34glioma susceptibility 110.0
35renal cell carcinoma10.0
36leukemia10.0
37pulmonary tuberculosis10.0
38axonal neuropathy10.0
39adenocarcinoma10.0
40adenoma10.0
41autism spectrum disorder10.0
42lymphoblastic leukemia10.0
43myeloid leukemia10.0
44neuropathy10.0
45tuberculosis10.0
46clear cell renal cell carcinoma10.0
47glioblastoma10.0

Graphical network of the top 20 diseases related to Parkinson Disease, Juvenile, Type 2:



Diseases related to parkinson disease, juvenile, type 2

Symptoms for Parkinson Disease, Juvenile, Type 2

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Symptoms by clinical synopsis from OMIM:

600116

Clinical features from OMIM:

600116

HPO human phenotypes related to Parkinson Disease, Juvenile, Type 2:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 gait disturbance HP:0001288
3 parkinsonism HP:0001300
4 dystonia HP:0001332
5 tremor HP:0001337
6 hyperreflexia HP:0001347
7 rigidity HP:0002063
8 bradykinesia HP:0002067
9 postural instability HP:0002172
10 adult onset HP:0003581
11 substantia nigra gliosis HP:0011960

Drugs & Therapeutics for Parkinson Disease, Juvenile, Type 2

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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease, Juvenile, Type 2

Search NIH Clinical Center for Parkinson Disease, Juvenile, Type 2

Genetic Tests for Parkinson Disease, Juvenile, Type 2

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Genetic tests related to Parkinson Disease, Juvenile, Type 2:

id Genetic test Affiliating Genes
1 Parkinson Disease 222

Anatomical Context for Parkinson Disease, Juvenile, Type 2

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Animal Models for Parkinson Disease, Juvenile, Type 2 or affiliated genes

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Publications for Parkinson Disease, Juvenile, Type 2

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Variations for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease, Juvenile, Type 2:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1PARK2p.Val15MetVAR_019733
2PARK2p.Arg33GlnVAR_019734
3PARK2p.Pro37LeuVAR_019735rs148990138
4PARK2p.Arg42ProVAR_019736
5PARK2p.Ala46ProVAR_019737
6PARK2p.Ala82GluVAR_019738rs55774500
7PARK2p.Ala92ValVAR_019739
8PARK2p.Lys161AsnVAR_019741
9PARK2p.Lys211AsnVAR_019744
10PARK2p.Lys211ArgVAR_019745
11PARK2p.Cys212TyrVAR_019746
12PARK2p.Thr240MetVAR_019747
13PARK2p.Thr240ArgVAR_019748
14PARK2p.Arg256CysVAR_019750rs150562946
15PARK2p.Arg275TrpVAR_019752rs34424986
16PARK2p.Gly284ArgVAR_019754
17PARK2p.Cys289GlyVAR_019755rs55961220
18PARK2p.Gly328GluVAR_019756
19PARK2p.Arg334CysVAR_019757
20PARK2p.Thr351ProVAR_019759
21PARK2p.Thr415AsnVAR_019763
22PARK2p.Gly430AspVAR_019764
23PARK2p.Cys431PheVAR_019765
24PARK2p.Pro437LeuVAR_019766rs149953814
25PARK2p.Cys441ArgVAR_019767
26PARK2p.Val56GluVAR_070078
27PARK2p.Arg402CysVAR_070079
28PARK2p.Cys418ArgVAR_070080

Clinvar genetic disease variations for Parkinson Disease, Juvenile, Type 2:

6 (show all 21)
id Gene Variation 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
11PARK2PARK2, 1-BP DEL, 202AdeletionPathogenic
12PARK2NM_004562.2: c.735-?_871+?deldeletionPathogenic
13PARK2NM_004562.2(PARK2): c.635G> A (p.Cys212Tyr)single nucleotide variantPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
14PARK2NM_004562.2(PARK2): c.167T> A (p.Val56Glu)single nucleotide variantPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
15PARK2PARK2, 1-BP DEL, 255AdeletionPathogenic
16PARK2NM_004562.2(PARK2): c.823C> T (p.Arg275Trp)single nucleotide variantPathogenicrs34424986GRCh37Chr 6, 162206852: 162206852
17PARK2NM_004562.2(PARK2): c.633A> T (p.Lys211Asn)single nucleotide variantPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
18PARK2PARK2, 1-BP DEL, 1072TdeletionPathogenic
19NM_004562.2(PARK2): c.7+1G> Tsingle nucleotide variantPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
20PARK2NM_004562.2(PARK2): c.719C> T (p.Thr240Met)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
21PARK2PARK2, EX5-6 DELdeletionPathogenic

Expression for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Search GEO for disease gene expression data for Parkinson Disease, Juvenile, Type 2.

Pathways for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Compounds for genes affiliated with Parkinson Disease, Juvenile, Type 2

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GO Terms for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Products for genes affiliated with Parkinson Disease, Juvenile, Type 2

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  • Antibodies
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  • Proteins
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Sources for Parkinson Disease, Juvenile, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet