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 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 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