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 111 - 120 of 164 in total
Gene ID Gene Symbol Description Source
7108 TM7SF2 transmembrane 7 superfamily member 2
7369 UMOD uromodulin
7412 VCAM1 vascular cell adhesion molecule 1
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
8398 PLA2G6 phospholipase A2 group VI
8527 DGKD diacylglycerol kinase delta
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
8867 SYNJ1 synaptojanin 1
8987 STBD1 starch binding domain 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0000338 Hypomimic face
HP:0000651 Diplopia
HP:0000713 Agitation
HP:0000716 Depression
HP:0000726 Dementia
HP:0000741 Apathy
HP:0000744 Low frustration tolerance
HP:0001268 Mental deterioration
HP:0001300 Parkinsonism
HP:0001332 Dystonia
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