Parkinson disease 18, autosomal dominant, susceptibility to

Preferred Label : Parkinson disease 18, autosomal dominant, susceptibility to;

Symbol : PARK18;

CISMeF acronym : PARK18;

Type : Phenotype, molecular basis known;

Description : Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011). 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 eukaryotic translation initiation factor 4-gamma, 1 gene (EIF4G1, 600495.0001);

Prefixed ID : #614251;

Details

Origin ID

614251;

UMLS CUI

C3280271;

Automatic exact mappings (from CISMeF team)
- Young-onset Parkinson disease [ORDO Disease]
- eukaryotic translation initiation factor 4 gamma 1 [ORDO Gene]
- eukaryotic translation initiation factor 4 gamma 1 [HGNC gene]
Genes related to phenotype
- Eukaryotic translation initiation factor 4-gamma, 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Insidious onset [HPO term]
- Lewy bodies [HPO term]
- Parkinsonism [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
ORDO concept(s)
- Hereditary late-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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