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
External Links
Disease Ontology
DOID:0060896
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 121 - 130 of 164 in total
Gene ID Gene Symbol Description Source
9197 SLC33A1 solute carrier family 33 member 1
9365 KL klotho
9536 PTGES prostaglandin E synthase
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
10327 AKR1A1 aldo-keto reductase family 1 member A1
10457 GPNMB glycoprotein nmb
10724 OGA O-GlcNAcase
10728 PTGES3 prostaglandin E synthase 3
10908 PNPLA6 patatin like phospholipase domain containing 6
11332 ACOT7 acyl-CoA thioesterase 7
The Human Phenotype Ontology
Displaying entries 21 - 30 of 31 in total
HPO ID HPO Term
HP:0002172 Postural instability
HP:0002578 Gastroparesis
HP:0003394 Muscle spasm
HP:0004409 Hyposmia
HP:0012332 Abnormal autonomic nervous system physiology
HP:0012452 Restless legs
HP:0012760 Reduced social reciprocity
HP:0100543 Cognitive impairment
HP:0100660 Dyskinesia
HP:0100710 Impulsivity
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