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
External Links
Disease Ontology
DOID:0060891
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 51 - 60 of 164 in total
Gene ID Gene Symbol Description Source
2572 GAD2 glutamate decarboxylase 2
2581 GALC galactosylceramidase
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2629 GBA1 glucosylceramidase beta 1
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
2752 GLUL glutamate-ammonia ligase
The Human Phenotype Ontology
Displaying entries 51 - 54 of 54 in total
HPO ID HPO Term
HP:0100543 Cognitive impairment
HP:0100660 Dyskinesia
HP:0100710 Impulsivity
HP:0100785 Insomnia
Displaying 1 entry
Gene ID Gene Symbol Description
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: August 19, 2024