autosomal recessive juvenile Parkinson's disease
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease genetic disorder |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in PARK2 gene
mutation in PINK1 gene mutation in PARK7 gene |
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:98749
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive juvenile Parkinson's disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
600116
|
| gptkbp:onset |
juvenile
|
| gptkbp:symptom |
bradykinesia
postural instability rigidity tremor parkinsonism |
| gptkbp:synonym |
AR-JP
autosomal recessive early-onset parkinsonism |
| gptkbp:treatment |
gptkb:levodopa
dopamine agonists |
| gptkbp:bfsParent |
gptkb:parkin_protein
|
| gptkbp:bfsLayer |
8
|