MCID: PRK052
MIFTS: 17

Parkinson Disease 17 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cancer diseases, Cardiovascular diseases, Mental diseases categories

Aliases & Classifications for Parkinson Disease 17

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Parkinson Disease 17, Aliases & Descriptions:

Name: Parkinson Disease 17 45 10 22 60


Classifications:



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OMIM45 614203

Summaries for Parkinson Disease 17

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OMIM:45 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)).

Symptoms for Parkinson Disease 17

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Symptoms by clinical synopsis from OMIM:

614203

Clinical features from OMIM:

614203

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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Genetic tests related to Parkinson Disease 17:

id Genetic test Affiliating Genes
1 Parkinson Disease 1722

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:

62
id Symbol AA change Variation ID SNP ID
1VPS35p.Asp620AsnVAR_066659

Clinvar genetic disease variations for Parkinson Disease 17:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet