MCID: PRK052
MIFTS: 22

Parkinson Disease 17

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

Aliases & Classifications for Parkinson Disease 17

MalaCards integrated aliases for Parkinson Disease 17:

Name: Parkinson Disease 17 57 12 75 29 13 6 73
Park17 57 75
Autosomal Dominant Parkinson Disease 17 12
Parkinson Disease, Type 17 40
Parkinson's Disease 17 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
parkinson disease 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614203
Disease Ontology 12 DOID:0060897
MedGen 42 C3280133
MeSH 44 D010300
UMLS 73 C3280133

Summaries for Parkinson Disease 17

UniProtKB/Swiss-Prot : 75 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 has symptoms including muscle cramp, muscle rigidity and tremor. An important gene associated with Parkinson Disease 17 is VPS35 (VPS35, Retromer Complex Component). Affiliated tissues include brain, and related phenotypes are parkinsonism and rigidity

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

OMIM : 57 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:

57
Neurologic Central Nervous System:
tremor
rigidity
bradykinesia
parkinsonism
postural instability
more

Clinical features from OMIM:

614203

Human phenotypes related to Parkinson Disease 17:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 parkinsonism 32 HP:0001300
2 rigidity 32 HP:0002063
3 bradykinesia 32 HP:0002067
4 postural instability 32 HP:0002172
5 akinesia 32 HP:0002304
6 resting tremor 32 HP:0002322
7 dyskinesia 32 HP:0100660

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 29 VPS35

Anatomical Context for Parkinson Disease 17

MalaCards organs/tissues related to Parkinson Disease 17:

41
Brain

Publications for Parkinson Disease 17

Variations for Parkinson Disease 17

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

75
# Symbol AA change Variation ID SNP ID
1 VPS35 p.Asp620Asn VAR_066659 rs188286943

ClinVar genetic disease variations for Parkinson Disease 17:

6
(show all 34)
# 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
2 VPS35 NM_018206.5(VPS35): c.1858G> A (p.Asp620Asn) single nucleotide variant Pathogenic rs188286943 GRCh38 Chromosome 16, 46662452: 46662452
3 VPS35 NM_018206.5(VPS35): c.1938T> C (p.His646=) single nucleotide variant Benign rs168745 GRCh38 Chromosome 16, 46662372: 46662372
4 VPS35 NM_018206.5(VPS35): c.1938T> C (p.His646=) single nucleotide variant Benign rs168745 GRCh37 Chromosome 16, 46696284: 46696284
5 VPS35 NM_018206.5(VPS35): c.1391T> C (p.Val464Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 46705750: 46705750
6 VPS35 NM_018206.5(VPS35): c.1391T> C (p.Val464Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 46671838: 46671838
7 VPS35 NM_018206.5(VPS35): c.1881C> T (p.Ala627=) single nucleotide variant Likely benign rs138794859 GRCh37 Chromosome 16, 46696341: 46696341
8 VPS35 NM_018206.5(VPS35): c.1881C> T (p.Ala627=) single nucleotide variant Likely benign rs138794859 GRCh38 Chromosome 16, 46662429: 46662429
9 VPS35 NM_018206.5(VPS35): c.2359G> A (p.Glu787Lys) single nucleotide variant Uncertain significance rs777050595 GRCh38 Chromosome 16, 46660504: 46660504
10 VPS35 NM_018206.5(VPS35): c.2359G> A (p.Glu787Lys) single nucleotide variant Uncertain significance rs777050595 GRCh37 Chromosome 16, 46694416: 46694416
11 VPS35 NM_018206.5(VPS35): c.2320C> A (p.Leu774Met) single nucleotide variant Uncertain significance rs192419029 GRCh38 Chromosome 16, 46660543: 46660543
12 VPS35 NM_018206.5(VPS35): c.2320C> A (p.Leu774Met) single nucleotide variant Uncertain significance rs192419029 GRCh37 Chromosome 16, 46694455: 46694455
13 VPS35 NM_018206.5(VPS35): c.2210C> T (p.Ala737Val) single nucleotide variant Uncertain significance rs749516404 GRCh37 Chromosome 16, 46695631: 46695631
14 VPS35 NM_018206.5(VPS35): c.2210C> T (p.Ala737Val) single nucleotide variant Uncertain significance rs749516404 GRCh38 Chromosome 16, 46661719: 46661719
15 VPS35 NM_018206.5(VPS35): c.1819A> G (p.Met607Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 46662991: 46662991
16 VPS35 NM_018206.5(VPS35): c.1819A> G (p.Met607Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 46696903: 46696903
17 VPS35 NM_018206.5(VPS35): c.1796A> G (p.His599Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 46663014: 46663014
18 VPS35 NM_018206.5(VPS35): c.1796A> G (p.His599Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 46696926: 46696926
19 VPS35 NM_018206.5(VPS35): c.1679T> C (p.Ile560Thr) single nucleotide variant Uncertain significance rs760128592 GRCh38 Chromosome 16, 46663131: 46663131
20 VPS35 NM_018206.5(VPS35): c.1679T> C (p.Ile560Thr) single nucleotide variant Uncertain significance rs760128592 GRCh37 Chromosome 16, 46697043: 46697043
21 VPS35 NM_018206.5(VPS35): c.1570C> T (p.Arg524Trp) single nucleotide variant Uncertain significance rs184277092 GRCh37 Chromosome 16, 46702919: 46702919
22 VPS35 NM_018206.5(VPS35): c.1570C> T (p.Arg524Trp) single nucleotide variant Uncertain significance rs184277092 GRCh38 Chromosome 16, 46669007: 46669007
23 VPS35 NM_018206.5(VPS35): c.1520A> T (p.Tyr507Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 46671709: 46671709
24 VPS35 NM_018206.5(VPS35): c.1520A> T (p.Tyr507Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 46705621: 46705621
25 VPS35 NM_018206.5(VPS35): c.946C> T (p.Pro316Ser) single nucleotide variant Uncertain significance rs770029606 GRCh38 Chromosome 16, 46674629: 46674629
26 VPS35 NM_018206.5(VPS35): c.946C> T (p.Pro316Ser) single nucleotide variant Uncertain significance rs770029606 GRCh37 Chromosome 16, 46708541: 46708541
27 VPS35 NM_018206.5(VPS35): c.723T> G (p.Ile241Met) single nucleotide variant Uncertain significance rs192783364 GRCh38 Chromosome 16, 46677396: 46677396
28 VPS35 NM_018206.5(VPS35): c.723T> G (p.Ile241Met) single nucleotide variant Uncertain significance rs192783364 GRCh37 Chromosome 16, 46711308: 46711308
29 VPS35 NM_018206.5(VPS35): c.171G> A (p.Met57Ile) single nucleotide variant Uncertain significance rs183554824 GRCh38 Chromosome 16, 46682107: 46682107
30 VPS35 NM_018206.5(VPS35): c.171G> A (p.Met57Ile) single nucleotide variant Uncertain significance rs183554824 GRCh37 Chromosome 16, 46716019: 46716019
31 VPS35 NM_018206.5(VPS35): c.151G> A (p.Gly51Ser) single nucleotide variant Uncertain significance rs193077277 GRCh37 Chromosome 16, 46716039: 46716039
32 VPS35 NM_018206.5(VPS35): c.151G> A (p.Gly51Ser) single nucleotide variant Uncertain significance rs193077277 GRCh38 Chromosome 16, 46682127: 46682127
33 VPS35 NM_018206.5(VPS35): c.945A> T (p.Gly315=) single nucleotide variant Likely benign rs144346159 GRCh37 Chromosome 16, 46708542: 46708542
34 VPS35 NM_018206.5(VPS35): c.945A> T (p.Gly315=) single nucleotide variant Likely benign rs144346159 GRCh38 Chromosome 16, 46674630: 46674630

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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