Parkinson disease 14, autosomal recessive

Preferred Label : Parkinson disease 14, autosomal recessive;

Symbol : PARK14;

CISMeF acronym : PARK14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystonia-parkinsonism, adult-onset;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0009);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #612953;

Details

Origin ID

612953;

UMLS CUI

C2751842;

Automatic exact mappings (from CISMeF team)
- phospholipase A2 group VI [ORDO Gene]
- phospholipase A2 group VI [HGNC gene]
CISMeF manual mappings
- Adult-onset dystonia parkinsonism (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Adult-onset dystonia-parkinsonism [ICD-11 More detail]
- Adult-onset dystonia-parkinsonism [ORDO Disease]
- Dystonia-Parkinsonism, Adult-Onset [MeSH concept]
- Dystonia-Parkinsonism, Adult-Onset [MeSH Supplementary Concept]
- Parkinson Disease 14, Autosomal Recessive [NCIt concept]
- Parkinson's disease 14 [DO Concept]
DO Cross reference
- Parkinson's disease 14 [DO Concept]
Genes related to phenotype
- Phospholipase a2, group VI [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Apraxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Clumsiness [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Frontotemporal cerebral atrophy [HPO term]
- Frontotemporal dementia [HPO term]
- Global brain atrophy [HPO term]
- Hyperreflexia [HPO term]
- Mental deterioration [HPO term]
- Parkinsonism [HPO term]
- Personality changes [HPO term]
- Postural instability [HPO term]
- Rapidly progressive [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Supranuclear gaze palsy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Adult-onset dystonia-parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset dystonia parkinsonism (disorder) [SNOMED CT concept]
- Adult-onset dystonia-parkinsonism [ORDO Disease]
- Dystonia-Parkinsonism, Adult-Onset [MeSH Supplementary Concept]
- Dystonia-Parkinsonism, Adult-Onset [MeSH concept]
- Parkinson Disease 14, Autosomal Recessive [NCIt concept]
- Parkinson's disease 14 [DO Concept]

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