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 121 - 130 of 164 in total
Gene ID Gene Symbol Description Source
9197 SLC33A1 solute carrier family 33 member 1
9365 KL klotho
9536 PTGES prostaglandin E synthase
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
10327 AKR1A1 aldo-keto reductase family 1 member A1
10457 GPNMB glycoprotein nmb
10724 OGA O-GlcNAcase
10728 PTGES3 prostaglandin E synthase 3
10908 PNPLA6 patatin like phospholipase domain containing 6
11332 ACOT7 acyl-CoA thioesterase 7
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