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
External Links
Disease Ontology
DOID:0060895
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 121 - 130 of 164 in total
Gene ID Gene Symbol Description Source
9197 SLC33A1 solute carrier family 33 member 1
9365 KL klotho
9536 PTGES prostaglandin E synthase
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
10327 AKR1A1 aldo-keto reductase family 1 member A1
10457 GPNMB glycoprotein nmb
10724 OGA O-GlcNAcase
10728 PTGES3 prostaglandin E synthase 3
10908 PNPLA6 patatin like phospholipase domain containing 6
11332 ACOT7 acyl-CoA thioesterase 7
The Human Phenotype Ontology
Displaying entries 31 - 33 of 33 in total
HPO ID HPO Term
HP:0100660 Dyskinesia
HP:0100710 Impulsivity
HP:0100753 Schizophrenia
Displaying 1 entry
Gene ID Gene Symbol Description
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: August 19, 2024