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 31 - 40 of 52 in total
HPO ID HPO Term
HP:0000718 Aggressive behavior
HP:0000511 Vertical supranuclear gaze palsy
HP:0002530 Axial dystonia
HP:0001268 Mental deterioration
HP:0011468 Facial tics
HP:0000017 Nocturia
HP:0003621 Juvenile onset
HP:0001300 Parkinsonism
HP:0011448 Ankle clonus
HP:0001348 Brisk reflexes
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