MCID: PRK046
MIFTS: 17

Parkin Type of Early-Onset Parkinson Disease

Aliases & Classifications for Parkin Type of Early-Onset Parkinson Disease

MalaCards integrated aliases for Parkin Type of Early-Onset Parkinson Disease:

Name: Parkin Type of Early-Onset Parkinson Disease 25 6
Prkn Parkinson Disease 25
Park-Parkin 25

Summaries for Parkin Type of Early-Onset Parkinson Disease

MalaCards based summary : Parkin Type of Early-Onset Parkinson Disease, also known as prkn parkinson disease, is related to parkinson disease, late-onset and early-onset parkinson's disease. An important gene associated with Parkin Type of Early-Onset Parkinson Disease is PRKN (Parkin RBR E3 Ubiquitin Protein Ligase).

GeneReviews: NBK1478

Related Diseases for Parkin Type of Early-Onset Parkinson Disease

Diseases related to Parkin Type of Early-Onset Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 29.6 PRKN PODXL
2 early-onset parkinson's disease 10.2
3 parkinsonism 10.2
4 dystonia 10.2
5 tremor 10.2
6 parkinson disease 2, autosomal recessive juvenile 9.6 PRKN PODXL

Graphical network of the top 20 diseases related to Parkin Type of Early-Onset Parkinson Disease:



Diseases related to Parkin Type of Early-Onset Parkinson Disease

Symptoms & Phenotypes for Parkin Type of Early-Onset Parkinson Disease

Drugs & Therapeutics for Parkin Type of Early-Onset Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Parkin Type of Early-Onset Parkinson Disease

Genetic Tests for Parkin Type of Early-Onset Parkinson Disease

Anatomical Context for Parkin Type of Early-Onset Parkinson Disease

Publications for Parkin Type of Early-Onset Parkinson Disease

Articles related to Parkin Type of Early-Onset Parkinson Disease:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil. 25 6
16328510 2006
2
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. 25 6
10939576 2000
3
Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 6
16476817 2006
4
Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease. 6
16086186 2005
5
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 6
16049031 2005
6
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. 6
16130111 2005
7
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 6
15970950 2005
8
RING finger 1 mutations in Parkin produce altered localization of the protein. 6
14519684 2003
9
Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation. 6
12707457 2003
10
Molecular findings in familial Parkinson disease in Spain. 6
12056932 2002
11
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. 6
11487568 2001
12
An apparently sporadic case with parkin gene mutation in a Korean woman. 6
11405814 2001
13
Parkin gene causing benign autosomal recessive juvenile parkinsonism. 6
11402119 2001
14
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. 6
11163284 2001
15
An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. 6
11009195 2000
16
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. 6
10894217 2000
17
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 6
10072423 1999
18
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. 6
9802278 1998
19
Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. 6
9731209 1998
20
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 6
9560156 1998
21
A family with hereditary juvenile dystonia-parkinsonism. 6
7565830 1995
22
PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion. 25
30375512 2019
23
The sooner, the later - Delayed diagnosis in Parkinson's disease due to Parkin mutations. 25
31255538 2019
24
Diagnostic delay in Parkinson's disease caused by PRKN mutations. 25
30692050 2019
25
Cryptogenic stroke and patent foramen ovale (abridged and translated version). 25
33324867 2019
26
Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature. 25
31508488 2019
27
Parkin and PINK1 mitigate STING-induced inflammation. 25
30135585 2018
28
Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. 25
29577677 2018
29
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. 25
29644727 2018
30
Parkinson's disease and pregnancy: An updated review. 25
28506531 2017
31
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 25
27079681 2016
32
High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry. 25
26011561 2015
33
Next-generation phenotyping using the parkin example: time to catch up with genetics. 25
23835509 2013
34
Parkin disease: a clinicopathologic entity? 25
23459986 2013
35
Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. 25
23212910 2013
36
Lack of association between cancer history and PARKIN genotype: a family based study in PARKIN/Parkinson's families. 25
22927236 2012
37
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism. 25
23125018 2012
38
The neuropathology of genetic Parkinson's disease. 25
22451330 2012
39
Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele. 25
22434215 2012
40
The relation between depression and parkin genotype: the CORE-PD study. 25
21856206 2011
41
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism. 25
21682904 2011
42
Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study. 25
21092386 2011
43
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. 25
20876472 2010
44
Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study. 25
19845000 2009
45
Imaging the impact of genes on Parkinson's disease. 25
19409223 2009
46
Mapping preclinical compensation in Parkinson's disease: an imaging genomics approach. 25
19877238 2009
47
Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. 25
19025984 2008
48
Deciphering the role of heterozygous mutations in genes associated with parkinsonism. 25
17582365 2007
49
Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. 25
17149727 2007
50
Parkin: a multifaceted ubiquitin ligase. 25
17052189 2006

Variations for Parkin Type of Early-Onset Parkinson Disease

ClinVar genetic disease variations for Parkin Type of Early-Onset Parkinson Disease:

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKN PARK2, 1-BP DEL, 255A Deletion Pathogenic 7048
2 PRKN NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) SNV Pathogenic 7051 rs137853060 6:162394435-162394435 6:161973403-161973403
3 PRKN PARK2, 1-BP DEL, 1072T Deletion Pathogenic 7052
4 PRKN PARK2, EX5-6DEL Deletion Pathogenic 7055
5 PRKN NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) SNV Pathogenic 50354 rs397514694 6:161771237-161771237 6:161350205-161350205
6 PRKN NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) SNV Pathogenic 7036 rs137853054 6:162394349-162394349 6:161973317-161973317
7 PRKN NM_004562.3(PRKN):c.931C>T (p.Gln311Ter) SNV Pathogenic 7037 rs137853055 6:161990389-161990389 6:161569357-161569357
8 PRKN NM_004562.3(PRKN):c.483A>T (p.Lys161Asn) SNV Pathogenic 7043 rs137853057 6:162622214-162622214 6:162201182-162201182
9 PRKN PARK2, 1-BP DEL, 202A Deletion Pathogenic 7044
10 PRKN NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) SNV Pathogenic 7046 rs137853058 6:162394433-162394433 6:161973401-161973401
11 PRKN NC_000006.11:g.(?_162394314)_(162475226_?)dup Duplication Pathogenic 583917 6:162394314-162475226 6:161973282-162054194
12 PRKN NC_000006.11:g.(?_162206784)_(162206960_?)dup Duplication Pathogenic 639364 6:162206784-162206960 6:161785752-161785928
13 PRKN NM_004562.3(PRKN):c.101del (p.Gln34fs) Deletion Pathogenic 810636 6:162864412-162864412 6:162443380-162443380
14 PRKN NC_000006.12:g.(?_162262525)_(162275409_?)dup Duplication Pathogenic 830820 6:162683557-162696441
15 PRKN NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) SNV Pathogenic 7042 rs137853056 6:161771171-161771171 6:161350139-161350139
16 PRKN NC_000006.11:g.(?_162864322)_(162864525_?)dup Duplication Pathogenic 468582 6:162864322-162864525 6:162443290-162443493
17 PRKN NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) SNV Pathogenic 578186 rs147757966 6:162864415-162864415 6:162443383-162443383
18 PRKN NM_004562.3(PRKN):c.7+1G>T SNV Pathogenic 7053 rs397518439 6:163148693-163148693 6:162727661-162727661
19 PRKN NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) SNV Pathogenic 645725 rs747427602 6:162206917-162206917 6:161785885-161785885
20 PRKN NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) SNV Pathogenic 7038 rs55774500 6:162683724-162683724 6:162262692-162262692
21 PRKN NM_004562.2(PRKN):c.172-?_871+?del Deletion Pathogenic 7034 6:162206804-162683797 6:161785772-162262765
22 PRKN NM_004562.2(PRKN):c.413-?_534+?del Deletion Pathogenic 7035 6:162622163-162622284 6:162201131-162201252
23 PRKN NM_004562.2(PRKN):c.8-?_171+?del Deletion Pathogenic 7040 6:162864342-162864505 6:162443310-162443473
24 PRKN NM_004562.2(PRKN):c.872-?_1083+?del Deletion Pathogenic 7041 6:161969886-161990448 6:161548854-161569416
25 PRKN NM_004562.2(PRKN):c.735-?_871+?del Deletion Pathogenic 7045 6:162206804-162206940 6:161785772-161785908
26 PRKN NC_000006.12:g.(?_162201131)_(162443473_?)del Deletion Pathogenic 417459 6:162622163-162864505 6:162201131-162443473
27 PRKN NC_000006.12:g.(?_162054091)_(162054174_?)del Deletion Pathogenic 417464 6:162475123-162475206 6:162054091-162054174
28 PRKN NC_000006.12:g.(?_162201111)_(162201272_?)del Deletion Pathogenic 468578 6:162201111-162201272
29 PRKN NC_000006.12:g.(?_162262505)_(162443493_?)del Deletion Pathogenic 468581 6:162262505-162443493
30 PRKN NC_000006.12:g.(?_162201111)_(162262785_?)del Deletion Pathogenic 468579 6:162622143-162683817 6:162201111-162262785
31 PRKN NC_000006.12:g.(?_162262505)_(162262785_?)del Deletion Pathogenic 468580 6:162262505-162262785
32 PRKN NC_000006.12:g.(?_161785752)_(161973437_?)del Deletion Pathogenic 536459 6:162206784-162394469 6:161785752-161973437
33 PRKN NC_000006.12:g.(?_161569335)_(161569436_?)del Deletion Pathogenic 583674 6:161990367-161990468 6:161569335-161569436
34 PRKN GRCh37/hg19 6q26(chr6:162137107-162137163) copy number loss Pathogenic 976673 6:162137107-162137163
35 PRKN NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) SNV Pathogenic 7050 rs34424986 6:162206852-162206852 6:161785820-161785820
36 PRKN NM_004562.3(PRKN):c.719C>T (p.Thr240Met) SNV Pathogenic 7054 rs137853054 6:162394349-162394349 6:161973317-161973317
37 PRKN NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) SNV Pathogenic 7050 rs34424986 6:162206852-162206852 6:161785820-161785820
38 PRKN NM_004562.3(PRKN):c.155del (p.Asn52fs) Deletion Pathogenic 536457 rs754809877 6:162864358-162864358 6:162443326-162443326
39 PRKN Deletion Likely pathogenic 560128 6:162621943-162941426 6:162200911-162520394
40 PRKN NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) SNV Likely pathogenic 810783 rs1582953433 6:161771228-161771228 6:161350196-161350196
41 PODXL NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs) Insertion Likely pathogenic 218942 rs1554391082 7:131241029-131241030 7:131556270-131556271
42 PRKN NM_004562.3(PRKN):c.734+1G>A SNV Likely pathogenic 571536 rs1562430103 6:162394333-162394333 6:161973301-161973301
43 PRKN NC_000006.11:g.(?_162683537)_(162683817_?)dup Duplication Likely pathogenic 583519 6:162683537-162683817 6:162262505-162262785
44 PRKN NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) SNV Likely pathogenic 356016 rs191486604 6:161771240-161771240 6:161350208-161350208
45 PRKN NM_004562.3(PRKN):c.535-9T>A SNV Conflicting interpretations of pathogenicity 420046 rs201039350 6:162475215-162475215 6:162054183-162054183
46 PRKN NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) SNV Conflicting interpretations of pathogenicity 281504 rs199657839 6:161969969-161969969 6:161548937-161548937
47 PRKN NM_004562.3(PRKN):c.48G>A (p.Glu16=) SNV Uncertain significance 289182 rs143477190 6:162864465-162864465 6:162443433-162443433
48 PRKN NM_004562.3(PRKN):c.-57G>C SNV Uncertain significance 906284 6:163148757-163148757 6:162727725-162727725
49 PRKN NM_004562.3(PRKN):c.-78C>A SNV Uncertain significance 906285 6:163148778-163148778 6:162727746-162727746
50 PRKN NM_004562.3(PRKN):c.-85G>A SNV Uncertain significance 906286 6:163148785-163148785 6:162727753-162727753

Expression for Parkin Type of Early-Onset Parkinson Disease

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Pathways for Parkin Type of Early-Onset Parkinson Disease

GO Terms for Parkin Type of Early-Onset Parkinson Disease

Sources for Parkin Type of Early-Onset Parkinson Disease

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30 HMDB
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50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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