Parkinson disease 2, autosomal recessive juvenile

Preferred Label : Parkinson disease 2, autosomal recessive juvenile;

Symbol : PARK2;

CISMeF acronym : PARK2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EPDF; Parkinson disease, juvenile, autosomal recessive; Parkinsonism, early-onset, with diurnal fluctuation; PDJ;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the parkin gene (PARK2, 602544.0001);

Prefixed ID : #600116;

Details

Origin ID

600116;

UMLS CUI

C1868675;

Automatic exact mappings (from CISMeF team)
- EDTA-(2-aminoethyl 2-pyridyl disulfide)-Fe [MeSH Supplementary Concept]
- PARK2 gene [LOINC component]
- PRKN Gene [NCIt concept]
- PRKN wt Allele [NCIt concept]
- parkin RBR E3 ubiquitin protein ligase [ORDO Gene]
Currated CISMeF NLP mapping
- Parkinson Disease 2, Autosomal Recessive Juvenile [NCIt concept]
- Parkinson's disease 2 [DO Concept]
- autosomal recessive juvenile parkinson disease [MeSH concept]
DO Cross reference
- Parkinson's disease 2 [DO Concept]
Genes related to phenotype
- Parkin rbr e3 ubiquitin protein ligase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Cerebral atrophy [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Hyperreflexia may occur [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Neuronal loss [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Rigidity [HPO term]
- Substantia nigra gliosis [HPO term]
- Tremor [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Dementia [HPO term]
- Lewy bodies [HPO term]
ORDO concept(s)
- Young-onset Parkinson disease [ORDO Disease]
See also inter- (CISMeF)
- PRKN Gene [NCIt concept]
- PRKN wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 2, Autosomal Recessive Juvenile [NCIt concept]
- Parkinson's disease 2 [DO Concept]
- autosomal recessive juvenile parkinson disease [MeSH concept]
Validated automatic mappings to NTBT
- Young-onset Parkinson disease [ORDO Disease]
- parkinsonian disorders [MeSH Descriptor]

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