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 161 - 164 of 164 in total
Gene ID Gene Symbol Description Source
161357 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
165679 SPTSSB serine palmitoyltransferase small subunit B
283871 PGP phosphoglycolate phosphatase
284348 LYPD5 LY6/PLAUR domain containing 5
The Human Phenotype Ontology
Displaying entries 1 - 10 of 54 in total
HPO ID HPO Term
HP:0000338 Hypomimic face
HP:0000551 Color vision defect
HP:0000651 Diplopia
HP:0000713 Agitation
HP:0000716 Depression
HP:0000726 Dementia
HP:0000727 Frontal lobe dementia
HP:0000736 Short attention span
HP:0000738 Hallucinations
HP:0000739 Anxiety
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