MCID: PRK024
MIFTS: 33

Parkinson Disease, Juvenile, Type 2 malady

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

Aliases & Classifications for Parkinson Disease, Juvenile, Type 2

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

Name: Parkinson Disease, Juvenile, Type 2 49 11
Parkinson Disease 2 45 24 67
Autosomal Recessive Juvenile Parkinson Disease 45 67
Park2 45 67
Pdj 45 67
Autosomal Recessive Early-Onset Parkinson Disease Type 2 67
Chromosome 6-Linked Autosomal Recessive Parkinsonism 67
Parkinsonism, Early Onset, with Diurnal Fluctuation 45
 
Parkinson Disease Autosomal Recessive, Early Onset 45
Parkinson Disease 2, Autosomal Recessive Juvenile 65
Early-Onset Parkinsonism with Diurnal Fluctuation 67
Parkinsonism Young Adult Onset 67
Parkinsonism, Juvenile 65
Juvenile Parkinsonism 45
Epdf 67
Jp 45


Classifications:



External Ids:

OMIM49 600116
MedGen34 C1868675
MeSH36 D020734

Summaries for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot:67 Parkinson disease 2: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent.

MalaCards based summary: Parkinson Disease, Juvenile, Type 2, also known as parkinson disease 2, is related to polyposis, juvenile intestinal and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 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:49 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 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease, Late-Onset Parkinson Disease 16
Parkinson Disease 13 Parkinson Disease 11
Parkinson Disease 21 Parkinson Disease 18
Parkinson Disease 5 Parkinson Disease 4
Parkinson Disease 1 parkinson disease, juvenile, type 2
Parkinson Disease 8 Parkinson Disease 17
Parkinson Disease 20, Early-Onset Parkinson Disease 15, Autosomal Recessive
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 12
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1polyposis, juvenile intestinal10.7
2juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.4
3neuronitis10.4
4leprosy10.3
5parkinson disease 6, early onset10.3
6neuronal intranuclear inclusion disease10.2
7atypical juvenile parkinsonism10.2
8parkinson disease, late-onset10.2
9ovarian cancer, somatic10.2
10pathological gambling10.2
11dystonia10.2
12colorectal cancer10.1
13rem sleep behavior disorder10.1
14biliary dyskinesia10.1
15lynch syndrome10.1
16lung cancer10.0
17renal cell carcinoma10.0
18attention deficit-hyperactivity disorder10.0
19glioma susceptibility 110.0
20leukemia10.0
21pulmonary tuberculosis10.0
22chronic interstitial cystitis10.0
23axonal neuropathy10.0
24adenocarcinoma10.0
25adenoma10.0
26autism spectrum disorder10.0
27lymphoblastic leukemia10.0
28myeloid leukemia10.0
29neuropathy10.0
30pancreatitis10.0
31prostatitis10.0
32tuberculosis10.0
33clear cell renal cell carcinoma10.0
34glioblastoma10.0
35gliomatosis cerebri10.0
36dementia10.0
37hypogonadism10.0
38ovarian cancer10.0
39parkin type of early-onset parkinson disease10.0
40drug induced dyskinesia10.0
41young-onset parkinson disease10.0
42multiple cranial nerve palsy10.0

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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Drugs for Parkinson Disease, Juvenile, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Insulin, Globin Zinc4069
2insulin4069

Interventional clinical trials:

idNameStatusNCT IDPhase
1Mutations Associated With Parkinson s DiseaseCompletedNCT01547832
2Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
3Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970
4Proof of Concept BeatParkNot yet recruitingNCT02647242

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 224

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:

67 (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:

5 (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(PARK2): c.172-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162683797
3PARK2NM_004562.2(PARK2): c.413-?_534+?deldeletionPathogenicGRCh37Chr 6, 162622163: 162622284
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(PARK2): c.8-?_171+?deldeletionPathogenicGRCh37Chr 6, 162864342: 162864505
8PARK2NM_004562.2(PARK2): c.872-?_1083+?deldeletionPathogenicGRCh37Chr 6, 161969886: 161990448
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(PARK2): c.735-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162206940
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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GO Terms for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Sources for Parkinson Disease, Juvenile, Type 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet