MCID: PRK046
MIFTS: 9

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 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be nearly complete in individuals who have two prkn pathogenic variants.

Summaries for Parkin Type of Early-Onset Parkinson Disease

MalaCards based summary : Parkin Type of Early-Onset Parkinson Disease is related to parkinson disease, late-onset and parkinson disease 2, autosomal recessive juvenile. An important gene associated with Parkin Type of Early-Onset Parkinson Disease is PRKN (Parkin RBR E3 Ubiquitin Protein Ligase). Affiliated tissues include testes.

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 10.2
2 parkinson disease 2, autosomal recessive juvenile 10.2
3 early-onset parkinson's disease 10.2
4 dystonia 10.2
5 tremor 10.2

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

MalaCards organs/tissues related to Parkin Type of Early-Onset Parkinson Disease:

41
Testes

Publications for Parkin Type of Early-Onset Parkinson Disease

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

(show top 50) (show all 75)
# Title Authors PMID Year
1
Next-generation phenotyping using the parkin example: time to catch up with genetics. 4
23835509 2013
2
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. 4
23212910 2013
3
Lack of association between cancer history and PARKIN genotype: a family based study in PARKIN/Parkinson's families. 4
22927236 2012
4
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism. 4
23125018 2012
5
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 4
22956510 2012
6
High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. 4
22777964 2012
7
The neuropathology of genetic Parkinson's disease. 4
22451330 2012
8
Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele. 4
22434215 2012
9
Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease. 4
21915905 2012
10
The relation between depression and parkin genotype: the CORE-PD study. 4
21856206 2011
11
What genetics tells us about the causes and mechanisms of Parkinson's disease. 4
22013209 2011
12
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism. 4
21682904 2011
13
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. 4
21408142 2011
14
Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease. 4
20797900 2011
15
Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study. 4
21092386 2011
16
Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. 4
21205674 2011
17
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. 4
20876472 2010
18
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. 4
20558392 2010
19
Nonmotor symptoms in genetic Parkinson disease. 4
20558386 2010
20
Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India. 4
19734163 2010
21
Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies. 4
19946270 2010
22
Imaging the impact of genes on Parkinson's disease. 4
19409223 2009
23
Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study. 4
19845000 2009
24
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. 4
19469830 2009
25
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 4
19636047 2009
26
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. 4
19351622 2009
27
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 4
19404257 2009
28
Mapping preclinical compensation in Parkinson's disease: an imaging genomics approach. 4
19877238 2009
29
Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. 4
19025984 2008
30
Motor cortical physiology in patients and asymptomatic carriers of parkin gene mutations. 4
18759365 2008
31
Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. 4
18378882 2008
32
Deciphering the role of heterozygous mutations in genes associated with parkinsonism. 4
17582365 2007
33
Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. 4
17149727 2007
34
Parkin: a multifaceted ubiquitin ligase. 4
17052189 2006
35
Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients. 4
16793319 2006
36
The genetics of Parkinson disease: Implications for neurological care. 4
16932540 2006
37
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. 4
16401616 2006
38
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations. 4
16502212 2006
39
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil. 4
16328510 2006
40
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. 4
15642853 2005
41
Distribution, type, and origin of Parkin mutations: review and case studies. 4
15390068 2004
42
parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. 4
15266615 2004
43
Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations. 4
15197707 2004
44
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 4
15087508 2004
45
Susceptibility to leprosy is associated with PARK2 and PACRG. 4
14737177 2004
46
Parkin mutation associated parkinsonism and cognitive decline, comparison to early onset Parkinson's disease. 4
14714215 2004
47
Parkin variants in North American Parkinson's disease: cases and controls. 4
14639672 2003
48
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. 4
12975291 2003
49
How much phenotypic variation can be attributed to parkin genotype? 4
12891670 2003
50
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. 4
12764050 2003

Variations for Parkin Type of Early-Onset Parkinson Disease

Expression for Parkin Type of Early-Onset Parkinson Disease

Search GEO for disease gene expression data for Parkin Type of Early-Onset Parkinson Disease.

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

3 CDC
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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