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 81 - 90 of 164 in total
Gene ID Gene Symbol Description Source
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5230 PGK1 phosphoglycerate kinase 1
5279 PIGC phosphatidylinositol glycan anchor biosynthesis class C
5287 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5310 PKD1 polycystin 1, transient receptor potential channel interacting
Related Glycoprotein
Displaying entries 131 - 132 of 132 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
Q9Y2H2 Phosphatidylinositide phosphatase SAC2
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