Parkinson's disease 14

Summary
Synonym
  • Dystonia-Parkinsonism Adult-Onset
  • autosomal recessive Parkinson disease 14
  • autosomal recessive Parkinson's disease 14
Definition
A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13.
Super Class
autosomal recessive disease late onset Parkinson's disease
External Links
Disease Ontology
DOID:0060900
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8398 PLA2G6 phospholipase A2 group VI
The Human Phenotype Ontology
Displaying entries 11 - 20 of 52 in total
HPO ID HPO Term
HP:0001260 Dysarthria
HP:0012675 Iron accumulation in brain
HP:0001337 Tremor
HP:0000746 Delusion
HP:0002312 Clumsiness
HP:0000338 Hypomimic face
HP:0001347 Hyperreflexia
HP:0002548 Parkinsonism with favorable response to dopaminergic medication
HP:0000751 Personality changes
HP:0007153 Progressive extrapyramidal movement disorder
Displaying 1 entry
Gene ID Gene Symbol Description
8398 PLA2G6 phospholipase A2 group VI

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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