Parkinson disease 8, autosomal dominant

Preferred Label : Parkinson disease 8, autosomal dominant;

Symbol : PARK8;

CISMeF acronym : PARK8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the leucine-rich repeat kinase 2 gene (LRRK2, 609007.0001);

Prefixed ID : #607060;

Details

Origin ID

607060;

UMLS CUI

C1846862;

Automatic exact mappings (from CISMeF team)
- LRRK2 wt Allele [NCIt concept]
- Parkinson disease LRRK2 gene mutation 12p11.23-q13.11 [ICD-11 More detail]
- Young-onset Parkinson disease [ORDO Disease]
- symbol withdrawn PARK8 [HGNC gene]
Broader ORDO disease(s)
- Young-onset Parkinson disease [ORDO Disease]
CISMeF manual mappings
- parkinson disease 8 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Parkinson Disease 8, Autosomal Dominant [NCIt concept]
- Parkinson's disease 8 [DO Concept]
DO Cross reference
- Parkinson's disease 8 [DO Concept]
Genes related to phenotype
- Leucine-rich repeat kinase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Dementia [HPO term]
- Hyposmia [HPO term]
- Incomplete penetrance [HPO term]
- Lewy bodies [HPO term]
- Neuronal loss [HPO term]
- Parkinsonism [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Postural instability [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Slowly progressive [HPO term]
- Substantia nigra gliosis [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 8, Autosomal Dominant [NCIt concept]
- Parkinson's disease 8 [DO Concept]

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