Parkinson disease 1, autosomal dominant

Preferred Label : Parkinson disease 1, autosomal dominant;

Symbol : PARK1;

CISMeF acronym : PARK1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Parkinson disease 1, autosomal dominant lewy body;

Included titles and symbols : Atypical parkinson disease;

Description : Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-synuclein gene (SNCA, 163890.0001);

Prefixed ID : #168601;

Details

Origin ID

168601;

UMLS CUI

C1868595;

Automatic exact mappings (from CISMeF team)
- Parkinson disease synuclein gene mutation 4q21.23 [ICD-11 More detail]
- SNCA wt Allele [NCIt concept]
- Young-onset Parkinson disease [ORDO Disease]
- atypical parkinson disease [MeSH concept]
- symbol withdrawn PARK1 [HGNC gene]
Broader ORDO disease(s)
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- Parkinson Disease 1, Autosomal Dominant [NCIt concept]
- Parkinson's disease 1 [DO Concept]
- autosomal dominant Parkinson disease [Disease (Nov.)]
- parkinson disease, familial, type 1 [MeSH Supplementary Concept]
DO Cross reference
- Parkinson's disease 1 [DO Concept]
Genes related to phenotype
- Synuclein, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Gliosis [HPO term]
- Hallucinations [HPO term]
- Hypokinesia [HPO term]
- Insidious onset [HPO term]
- Lewy bodies [HPO term]
- Mental deterioration [HPO term]
- Micrographia [HPO term]
- Myoclonus [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Shuffling gait [HPO term]
- Sleep disturbance [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Hereditary late-onset Parkinson disease [ORDO Disease]
- Parkinsonian-pyramidal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 1, Autosomal Dominant [NCIt concept]

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