MCID: PRK052
MIFTS: 14

Parkinson Disease 17 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories

Summaries for Parkinson Disease 17

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OMIM:46 Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to...614203 more...

MalaCards based summary: Parkinson Disease 17 and has symptoms including autosomal dominant inheritance, parkinsonism and rigidity. An important gene associated with Parkinson Disease 17 is VPS35 (vacuolar protein sorting 35 homolog (S. cerevisiae)).

Aliases & Classifications for Parkinson Disease 17

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Parkinson Disease 17, Aliases & Descriptions:

Name: Parkinson Disease 17 46 61


Classifications:



Symptoms for Parkinson Disease 17

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Symptoms by clinical synopsis from OMIM:

614203

Clinical features from OMIM:

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HPO human phenotypes related to Parkinson Disease 17:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 parkinsonism HP:0001300
3 rigidity HP:0002063
4 bradykinesia HP:0002067
5 postural instability HP:0002172
6 akinesia HP:0002304
7 resting tremor HP:0002322
8 dyskinesia HP:0100660

Drugs & Therapeutics for Parkinson Disease 17

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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 17

Search NIH Clinical Center for Parkinson Disease 17

Genetic Tests for Parkinson Disease 17

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Anatomical Context for Parkinson Disease 17

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Animal Models for Parkinson Disease 17 or affiliated genes

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Publications for Parkinson Disease 17

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Variations for Parkinson Disease 17

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

63
id Symbol AA change Variation ID SNP ID
1VPS35p.Asp620AsnVAR_066659

Clinvar genetic disease variations for Parkinson Disease 17:

7
id Gene Name Type Significance SNP ID Assembly Location
1VPS35NM_018206.4(VPS35): c.1858G> A (p.Asp620Asn)single nucleotide variantPathogenicrs188286943GRCh37Chr 16, 46696364: 46696364

Expression for genes affiliated with Parkinson Disease 17

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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 17

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

Pathways for genes affiliated with Parkinson Disease 17

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Compounds for genes affiliated with Parkinson Disease 17

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GO Terms for genes affiliated with Parkinson Disease 17

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Products for genes affiliated with Parkinson Disease 17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Parkinson Disease 17

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet