Parkinson's disease 20

Summary
Synonym
  • early-onset Parkinson disease 20
  • early-onset Parkinson's disease 20
Definition
An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
Super Class
autosomal recessive disease early-onset Parkinson's disease
External Links
Disease Ontology
DOID:0060898
Mondo Disease Ontology
OMIM
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 1 - 10 of 38 in total
HPO ID HPO Term
HP:0002425 Anarthria
HP:0001761 Pes cavus
HP:0012378 Fatigue
HP:0001265 Hyporeflexia
HP:0007164 Slowed slurred speech
HP:0002172 Postural instability
HP:0001249 Intellectual disability
HP:0002322 Resting tremor
HP:0007311 Short stepped shuffling gait
HP:0001336 Myoclonus
Displaying 1 entry
Gene ID Gene Symbol Description
8867 SYNJ1 synaptojanin 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