Parkinson's disease 1

Summary
Synonym
  • autosomal dominant Parkinson disease 1
  • autosomal dominant Parkinson's disease 1
Definition
A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1.
Super Class
autosomal dominant disease late onset Parkinson's disease
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43426 Synaptojanin-1
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