disease 2,011 words KG: ent-dise-71fbe014
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PARK19 (DNAJC6-Related Parkinson's Disease)

Disease Info
PARK19Numerical designation in the PARK gene nomenclature system
DNAJC6DnaJ heat shock protein family (Hsp40) member C6
Auxilin-2Originally named for its similarity to auxilin-1 (DNAJC5), involved in synaptic vesicle recycling
European descent~1 in 500-1,000
East Asian~1 in 1,000-2,000
Middle EasternHigher due to consanguinity 7 8
Early onsetTypically before age 30, often in adolescence or early adulthood
Rapid progressionEarly development of motor complications compared to idiopathic PD
Good levodopa responsePatients respond well to dopaminergic therapy
Typical PD signsResting tremor, bradykinesia, rigidity, postural instability
Parkinsonism asymmetryOften begins asymmetrically 9
DatabasesOMIMOrphanetClinicalTrialsPubMed

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