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
23230 VPS13A vacuolar protein sorting 13 homolog A
54832 VPS13C vacuolar protein sorting 13 homolog C
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 1 - 10 of 31 in total
HPO ID HPO Term
HP:0002018 Nausea
HP:0000738 Hallucinations
HP:0004409 Hyposmia
HP:0000716 Depression
HP:0002141 Gait imbalance
HP:0100543 Cognitive impairment
HP:0001332 Dystonia
HP:0000651 Diplopia
HP:0002063 Rigidity
HP:0012452 Restless legs
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: December 9, 2024