Parkinson's disease 6

Summary
Synonym
  • PARK6
  • autosomal recessive early-onset Parkinson disease 6
  • autosomal recessive early-onset Parkinson's disease 6
  • early-onset Parkinson disease 6
Definition
An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
Super Class
autosomal recessive disease digenic disease early-onset Parkinson's disease
Disease Ontology
DOID:0060369
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
65018 PINK1 PTEN induced kinase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0000741 Apathy
HP:0100710 Impulsivity
HP:0001347 Hyperreflexia
HP:0000727 Frontal lobe dementia
HP:0002578 Gastroparesis
HP:0000551 Color vision defect
HP:0002019 Constipation
HP:0012332 Abnormal autonomic nervous system physiology
HP:0000739 Anxiety
HP:0100660 Dyskinesia
Displaying all 2 entries
Gene ID Gene Symbol Description
120892 LRRK2 leucine rich repeat kinase 2
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: December 9, 2024