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 141 - 150 of 164 in total
Gene ID Gene Symbol Description Source
27349 MCAT malonyl-CoA-acyl carrier protein transacylase
51477 ISYNA1 inositol-3-phosphate synthase 1
51478 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7
51763 INPP5K inositol polyphosphate-5-phosphatase K
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54732 TMED9 transmembrane p24 trafficking protein 9
55512 SMPD3 sphingomyelin phosphodiesterase 3
56963 RGMA repulsive guidance molecule BMP co-receptor a
57103 TIGAR TP53 induced glycolysis regulatory phosphatase
57704 GBA2 glucosylceramidase beta 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0000651 Diplopia
HP:0000713 Agitation
HP:0000716 Depression
HP:0000726 Dementia
HP:0000727 Frontal lobe dementia
HP:0000736 Short attention span
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0000741 Apathy
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