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 1 - 10 of 164 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
43 ACHE acetylcholinesterase (Yt blood group)
48 ACO1 aconitase 1
50 ACO2 aconitase 2
125 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
127 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide
131 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
142 PARP1 poly(ADP-ribose) polymerase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
Related Glycoprotein
Displaying entries 131 - 132 of 132 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7
Q9Y2H2 Phosphatidylinositide phosphatase SAC2
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