Parkinson's disease 23

Summary
Synonym
  • autosomal recessive early-onset Parkinson disease 23
  • autosomal recessive early-onset Parkinson's disease 23
Definition
An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
Super Class
autosomal recessive disease early-onset Parkinson's disease
Disease Ontology
DOID:0060896
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
271564 Vps13a vacuolar protein sorting 13A
320528 Vps13c vacuolar protein sorting 13C
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0001257 Spasticity
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001347 Hyperreflexia
HP:0002014 Diarrhea
HP:0002018 Nausea
HP:0002019 Constipation
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002141 Gait imbalance
Displaying all 2 entries
Gene ID Gene Symbol Description
120892 LRRK2 leucine rich repeat kinase 2
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: February 17, 2025