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juvenile onset Parkinson disease 19A

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.
Uniprot Description An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive.
Disease Ontology Description A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
Mondo Term and Equivalent IDs
MONDO:0014231:  juvenile onset Parkinson disease 19A
UMLS:C3809811: