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 1 - 10 of 164 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
43 ACHE acetylcholinesterase (Yt blood group)
48 ACO1 aconitase 1
50 ACO2 aconitase 2
125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
127 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide
131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
142 PARP1 poly(ADP-ribose) polymerase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
The Human Phenotype Ontology
Displaying entries 11 - 20 of 33 in total
HPO ID HPO Term
HP:0001824 Weight loss
HP:0002015 Dysphagia
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002120 Cerebral cortical atrophy
HP:0002171 Gliosis
HP:0002172 Postural instability
HP:0002304 Akinesia
HP:0002322 Resting tremor
HP:0002359 Frequent falls
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