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 81 - 90 of 164 in total
Gene ID Gene Symbol Description Source
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5230 PGK1 phosphoglycerate kinase 1
5279 PIGC phosphatidylinositol glycan anchor biosynthesis class C
5287 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5310 PKD1 polycystin 1, transient receptor potential channel interacting
The Human Phenotype Ontology
Displaying entries 21 - 30 of 54 in total
HPO ID HPO Term
HP:0001761 Pes cavus
HP:0002014 Diarrhea
HP:0002018 Nausea
HP:0002019 Constipation
HP:0002063 Rigidity
HP:0002066 Gait ataxia
HP:0002067 Bradykinesia
HP:0002141 Gait imbalance
HP:0002172 Postural instability
HP:0002304 Akinesia
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