Parkinson disease 4, autosomal dominant

Preferred Label : Parkinson disease 4, autosomal dominant;

Symbol : PARK4;

CISMeF acronym : PARK4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Parkinson disease 4, autosomal dominant lewy body;

Inheritance : Autosomal dominant;

Molecular basis : Caused by triplication of the alpha-synuclein gene (SNCA, 163890.0003);

Prefixed ID : #605543;

Details

Origin ID

605543;

UMLS CUI

C1854182;

Broader ORDO disease(s)
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- Parkinson Disease 4, Autosomal Dominant [NCIt concept]
- Parkinson's disease 4 [DO Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH Supplementary Concept]
DO Cross reference
- Parkinson's disease 4 [DO Concept]
Genes related to phenotype
- Synuclein, alpha [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dementia [HPO term]
- Hallucinations [HPO term]
- Lewy bodies [HPO term]
- Middle age onset [HPO term]
- Orthostatic hypotension [HPO term]
- Paranoia [HPO term]
- Parkinsonism [HPO term]
- Rapidly progressive [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Hereditary late-onset Parkinson disease [ORDO Disease]
See also inter- (CISMeF)
- Young-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 4, Autosomal Dominant [NCIt concept]
- Parkinson's disease 4 [DO Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH Supplementary Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH concept]

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