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 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 41 - 50 of 54 in total
HPO ID HPO Term
HP:0002322 Resting tremor
HP:0002362 Shuffling gait
HP:0002425 Anarthria
HP:0002540 Inability to walk
HP:0002650 Scoliosis
HP:0004305 Involuntary movements
HP:0007164 Slowed slurred speech
HP:0007256 Abnormal pyramidal sign
HP:0007311 Short stepped shuffling gait
HP:0008969 Leg muscle stiffness
Displaying all 2 entries
Gene ID Gene Symbol Description
8867 SYNJ1 synaptojanin 1
120892 LRRK2 leucine rich repeat kinase 2

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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