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
Disease Ontology
DOID:0060900
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8398 PLA2G6 phospholipase A2 group VI
Displaying 1 entry
Gene ID Gene Symbol Description Source
53357 Pla2g6 phospholipase A2, group VI
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P97819 85/88 kDa calcium-independent phospholipase A2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 52 in total
HPO ID HPO Term
HP:0000338 Hypomimic face
HP:0000571 Hypometric saccades
HP:0011999 Paranoia
HP:0000658 Eyelid apraxia
HP:0007153 Progressive extrapyramidal movement disorder
HP:0000716 Depression
HP:0012675 Iron accumulation in brain
HP:0001250 Seizure
HP:0002548 Parkinsonism with favorable response to dopaminergic medication
HP:0001257 Spasticity
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 4, 2025