Parkinson's disease 19A

Summary
Synonym
  • juvenile onset Parkinson disease 19A
  • juvenile onset Parkinson's disease 19A
Definition
An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
Super Class
autosomal recessive disease early-onset Parkinson's disease
Disease Ontology
DOID:0060891
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2580 GAK cyclin G associated kinase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
72685 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6
231580 Gak cyclin G associated kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 54 in total
HPO ID HPO Term
HP:0002018 Nausea
HP:0000738 Hallucinations
HP:0004409 Hyposmia
HP:0000716 Depression
HP:0002141 Gait imbalance
HP:0100543 Cognitive impairment
HP:0001332 Dystonia
HP:0000651 Diplopia
HP:0002063 Rigidity
HP:0012452 Restless legs
Displaying all 2 entries
Gene ID Gene Symbol Description
120892 LRRK2 leucine rich repeat kinase 2
8867 SYNJ1 synaptojanin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024