MCID: VPS003
MIFTS: 13

Vps35-Related Parkinson Disease

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vps35-Related Parkinson Disease

MalaCards integrated aliases for Vps35-Related Parkinson Disease:

Name: Vps35-Related Parkinson Disease 25
Park17 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of the p.asp620asn variant is high and age dependent [trinh et al 2014, lill 2016]. of note, to date data are too limited to allow quantification of penetrance....

Classifications:



Summaries for Vps35-Related Parkinson Disease

MalaCards based summary : Vps35-Related Parkinson Disease, also known as park17, is related to parkinson disease 17 and parkinson disease, late-onset. An important gene associated with Vps35-Related Parkinson Disease is VPS35 (VPS35 Retromer Complex Component). Affiliated tissues include eye.

GeneReviews: NBK447258

Related Diseases for Vps35-Related Parkinson Disease

Graphical network of the top 20 diseases related to Vps35-Related Parkinson Disease:



Diseases related to Vps35-Related Parkinson Disease

Symptoms & Phenotypes for Vps35-Related Parkinson Disease

Drugs & Therapeutics for Vps35-Related Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Vps35-Related Parkinson Disease

Genetic Tests for Vps35-Related Parkinson Disease

Anatomical Context for Vps35-Related Parkinson Disease

MalaCards organs/tissues related to Vps35-Related Parkinson Disease:

40
Eye

Publications for Vps35-Related Parkinson Disease

Articles related to Vps35-Related Parkinson Disease:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice. 61 25
28173004 2016
2
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. 25 61
24740878 2014
3
Genetics of Parkinson's disease. 25
27818248 2016
4
Structural Mechanism for Cargo Recognition by the Retromer Complex. 25
27889239 2016
5
VPS35 regulates cell surface recycling and signaling of dopamine receptor D1. 25
27460146 2016
6
Parkinson Disease-linked Vps35 R524W Mutation Impairs the Endosomal Association of Retromer and Induces α-Synuclein Aggregation. 25
27385586 2016
7
Analysis of protein-coding genetic variation in 60,706 humans. 25
27535533 2016
8
Timing, rates and spectra of human germline mutation. 25
26656846 2016
9
Analysis of the genetic variability in Parkinson's disease from Southern Spain. 25
26518746 2016
10
An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease. 25
26547032 2016
11
D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population. 25
26300542 2015
12
Collective physician perspectives on non-oral medication approaches for the management of clinically relevant unresolved issues in Parkinson's disease: Consensus from an international survey and discussion program. 25
26233582 2015
13
MDS clinical diagnostic criteria for Parkinson's disease. 25
26474316 2015
14
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 25
26194182 2015
15
Expert Consensus Group report on the use of apomorphine in the treatment of Parkinson's disease--Clinical practice recommendations. 25
26189414 2015
16
Disease penetrance of late-onset parkinsonism: a meta-analysis. 25
25330418 2014
17
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy. 25
24854799 2014
18
In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila. 25
25288323 2014
19
Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation. 25
24980502 2014
20
VPS35 Parkinson's disease phenotype resembles the sporadic disease. 25
24557499 2014
21
Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. 25
24819384 2014
22
The Vps35 D620N mutation linked to Parkinson's disease disrupts the cargo sorting function of retromer. 25
24152121 2014
23
EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa. 25
24080171 2014
24
Retromer: a master conductor of endosome sorting. 25
24492709 2014
25
VPS35 Parkinson mutation impairs autophagy via WASH. 25
24963965 2014
26
VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians. 25
23726718 2013
27
Drug-induced Parkinson`s disease. A clinical review. 25
23887211 2013
28
VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China. 25
23261770 2013
29
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. 25
23408866 2013
30
Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease. 25
23279439 2013
31
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 25
23279440 2013
32
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. 25
23125461 2012
33
Frequency of the D620N mutation in VPS35 in Parkinson disease. 25
22801713 2012
34
VPS35 mutation in Japanese patients with typical Parkinson's disease. 25
22991136 2012
35
VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population. 25
22673036 2012
36
VPS35 mutation in Chinese Han patients with late-onset Parkinson's disease. 25
22891780 2012
37
Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population. 25
22336192 2012
38
Vacuolar protein sorting 35 Asp620Asn mutation is rare in the ethnic Chinese population with Parkinson's disease. 25
22410496 2012
39
Identification of VPS35 mutations replicated in French families with Parkinson disease. 25
22517097 2012
40
The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease. 25
22278960 2012
41
Screening for VPS35 mutations in Parkinson's disease. 25
22154191 2012
42
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. 25
22454269 2012
43
VPS35 haploinsufficiency increases Alzheimer's disease neuropathology. 25
22105352 2011
44
The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the non-motor symptoms of Parkinson's disease. 25
22021174 2011
45
Drug-induced parkinsonism: a review of 17 years' experience in a regional pharmacovigilance center in France. 25
21674626 2011
46
VPS35 mutations in Parkinson disease. 25
21763482 2011
47
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. 25
21763483 2011
48
Movement disorders and pregnancy: a review of the literature. 25
20437535 2010
49
Practice Parameter: treatment of nonmotor symptoms of Parkinson disease: report of the Quality Standards Subcommittee of the American Academy of Neurology. 25
20231670 2010
50
Pregnancy in Parkinson's disease: case report and discussion. 25
19086876 2008

Variations for Vps35-Related Parkinson Disease

Expression for Vps35-Related Parkinson Disease

Search GEO for disease gene expression data for Vps35-Related Parkinson Disease.

Pathways for Vps35-Related Parkinson Disease

GO Terms for Vps35-Related Parkinson Disease

Sources for Vps35-Related Parkinson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....