MCID: PRK052
MIFTS: 23

Parkinson Disease 17

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

Aliases & Classifications for Parkinson Disease 17

MalaCards integrated aliases for Parkinson Disease 17:

Name: Parkinson Disease 17 53 12 71 28 13 69
Park17 53 71
Autosomal Dominant Parkinson Disease 17 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
levodopa-responsive
mean age of onset 50 to 52 years
incomplete, age-associated penetrance
motor fluctuation


HPO:

31
parkinson disease 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614203
Disease Ontology 12 DOID:0060897
MedGen 39 C3280133
MeSH 41 D010300
UMLS 69 C3280133

Summaries for Parkinson Disease 17

UniProtKB/Swiss-Prot : 71 Parkinson disease 17: An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 17, also known as park17, is related to parkinson disease, late-onset and vps35-related parkinson disease, and has symptoms including bradykinesia, dyskinesia and rigidity. An important gene associated with Parkinson Disease 17 is VPS35 (VPS35, Retromer Complex Component). Affiliated tissues include brain.

Disease Ontology : 12 A late-onset Parkinson disease that has material basis in heterozygous mutation in the VPS35 gene on chromosome 16q13.

OMIM : 53 Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. (614203)

Related Diseases for Parkinson Disease 17

Symptoms & Phenotypes for Parkinson Disease 17

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
bradykinesia
rigidity
parkinsonism
postural instability
more

Clinical features from OMIM:

614203

Human phenotypes related to Parkinson Disease 17:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 bradykinesia 31 HP:0002067
2 dyskinesia 31 HP:0100660
3 rigidity 31 HP:0002063
4 parkinsonism 31 HP:0001300
5 postural instability 31 HP:0002172
6 akinesia 31 HP:0002304
7 resting tremor 31 HP:0002322

UMLS symptoms related to Parkinson Disease 17:


muscle cramp, muscle rigidity, tremor, bradykinesia, resting tremor

Drugs & Therapeutics for Parkinson Disease 17

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 17

Genetic Tests for Parkinson Disease 17

Genetic tests related to Parkinson Disease 17:

# Genetic test Affiliating Genes
1 Parkinson Disease 17 28 VPS35

Anatomical Context for Parkinson Disease 17

MalaCards organs/tissues related to Parkinson Disease 17:

38
Brain

Publications for Parkinson Disease 17

Variations for Parkinson Disease 17

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 17:

71
# Symbol AA change Variation ID SNP ID
1 VPS35 p.Asp620Asn VAR_066659 rs188286943

ClinVar genetic disease variations for Parkinson Disease 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS35 NM_018206.5(VPS35): c.1858G> A (p.Asp620Asn) single nucleotide variant Pathogenic rs188286943 GRCh37 Chromosome 16, 46696364: 46696364

Expression for Parkinson Disease 17

Search GEO for disease gene expression data for Parkinson Disease 17.

Pathways for Parkinson Disease 17

GO Terms for Parkinson Disease 17

Sources for Parkinson Disease 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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