Parkinson's disease 2

Summary
Synonym
  • autosomal recessive juvenile Parkinson disease 2
  • autosomal recessive juvenile Parkinson's disease 2
Definition
An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
Super Class
autosomal recessive disease early-onset Parkinson's disease
External Links
Disease Ontology
DOID:0060368
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
2629 GBA1 glucosylceramidase beta 1
8867 SYNJ1 synaptojanin 1
27255 CNTN6 contactin 6
53942 CNTN5 contactin 5
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0001257 Spasticity
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001347 Hyperreflexia
HP:0002014 Diarrhea
HP:0002018 Nausea
HP:0002019 Constipation
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002141 Gait imbalance
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