Parkinson disease 17

Preferred Label : Parkinson disease 17;

Symbol : PARK17;

CISMeF acronym : PARK17;

Type : Phenotype, molecular basis known;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the yeast vacuolar protein sorting 35 gene (VPS35, 601501.0001);

Prefixed ID : #614203;

Details

Origin ID

614203;

UMLS CUI

C3280133;

Automatic exact mappings (from CISMeF team)
- VPS35 retromer complex component [ORDO Gene]
- VPS35 retromer complex component [HGNC gene]
- VPS35 wt Allele [NCIt concept]
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- Parkinson Disease 17 [NCIt concept]
- Parkinson's disease 17 [DO Concept]
DO Cross reference
- Parkinson's disease 17 [DO Concept]
Genes related to phenotype
- Vps35 retromer complex component [OMIM gene]
HPO term(s)
- Akinesia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Dyskinesia [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Hereditary late-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 17 [NCIt concept]
- Parkinson's disease 17 [DO Concept]

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