disease 2,011 words KG: ent-dise-71fbe014 2026-03-22
kind:diseasesection:diseasesstate:published
Contents

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

Knowledge Graph

Related Hypotheses (10)

Conditional CRISPR Kill Switches for Aberrant Protein Cleara
Score: 0.45
Multi-Modal Stress Response Harmonization
Score: 0.60
Smartphone-Detected Motor Variability Correction
Score: 0.56
Heat Shock Protein 70 Disaggregase Amplification
Score: 0.51
SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK
Score: 0.51

Related Analyses (18)

Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Senolytic therapy for age-related neurodegeneration
neurodegeneration · archived

Related Experiments (30)

Longitudinal TLR2 reporter gene study in α-synuclein mice
validation · proposed · Score: 0.90
iPSC-derived astrocyte-neuron co-culture mitochondrial trans
exploratory · proposed · Score: 0.90
TLR expression analysis in Parkinson's disease patients
clinical · proposed · Score: 0.85
Dexamethasone treatment study in α-synuclein mice
validation · proposed · Score: 0.85
TLR expression in α-synuclein overexpressing mice
validation · proposed · Score: 0.80