MCID: PRK024
MIFTS: 12

Parkinson Disease, Juvenile, Type 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories
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Summaries for Parkinson Disease, Juvenile, Type 2

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MalaCards based summary: Parkinson Disease, Juvenile, Type 2 and has symptoms including An important gene associated with Parkinson Disease, Juvenile, Type 2 is PARK2 (parkin RBR E3 ubiquitin protein ligase).

Description from OMIM:46 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 46


Classifications:



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:

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

Genetic Tests for Parkinson Disease, Juvenile, Type 2

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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:

64 (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 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
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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Expression patterns in normal tissues for genes affiliated with Parkinson Disease, Juvenile, Type 2

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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
  • Proteins
  • Lysates

Sources for Parkinson Disease, Juvenile, Type 2

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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