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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q709C8 | Intermembrane lipid transfer protein VPS13C |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001337 | Tremor |
| HP:0000726 | Dementia |
| HP:0002172 | Postural instability |
| HP:0100785 | Insomnia |
| HP:0002014 | Diarrhea |
| HP:0000736 | Short attention span |
| HP:0003394 | Muscle spasm |
| HP:0000713 | Agitation |
| HP:0002067 | Bradykinesia |
| HP:0012760 | Reduced social reciprocity |
