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 31 - 40 of 164 in total
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1559 CYP2C9 cytochrome P450 family 2 subfamily C member 9
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
1577 CYP3A5 cytochrome P450 family 3 subfamily A member 5
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
1604 CD55 CD55 molecule (Cromer blood group)
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
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