Parkinson's disease 4

Summary
Synonym
  • autosomal dominant Lewy body Parkinson disease 4
  • autosomal dominant Parkinson disease 4
  • autosomal dominant Parkinson's disease 4
Definition
A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
Super Class
autosomal dominant disease late onset Parkinson's disease
Disease Ontology
DOID:0060895
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6622 SNCA synuclein alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
20617 Snca synuclein, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
29219 Snca synuclein alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0002171 Gliosis
HP:0100710 Impulsivity
HP:0001268 Mental deterioration
HP:0002548 Parkinsonism with favorable response to dopaminergic medication
HP:0000716 Depression
HP:0002359 Frequent falls
HP:0005340 Spastic/hyperactive bladder
HP:0002015 Dysphagia
HP:0000651 Diplopia
HP:0002304 Akinesia
Displaying all 2 entries
Gene ID Gene Symbol Description
120892 LRRK2 leucine rich repeat kinase 2
2629 GBA1 glucosylceramidase beta 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