Parkinson's disease 7

Summary
Synonym
  • autosomal recessive early-onset Parkinson disease 7
  • autosomal recessive early-onset Parkinson's disease 7
Definition
An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
Super Class
autosomal recessive disease early-onset Parkinson's disease
Disease Ontology
DOID:0060370
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11315 PARK7 Parkinsonism associated deglycase
Displaying 1 entry
Gene ID Gene Symbol Description Source
57320 Park7 Parkinson disease (autosomal recessive, early onset) 7
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0002018 Nausea
HP:0000738 Hallucinations
HP:0004409 Hyposmia
HP:0000716 Depression
HP:0002141 Gait imbalance
HP:0100543 Cognitive impairment
HP:0001332 Dystonia
HP:0000651 Diplopia
HP:0002063 Rigidity
HP:0012452 Restless legs
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