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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
- Mondo Disease Ontology
- OMIM
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q13393 | Phospholipase D1 | |
| Q13510 | Acid ceramidase | |
| Q14956 | Transmembrane glycoprotein NMB | |
| Q15185 | Prostaglandin E synthase 3 | |
| Q16678 | Cytochrome P450 1B1 | |
| Q16760 | Diacylglycerol kinase delta | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q6SZW1 | NAD(+) hydrolase SARM1 | |
| Q6UWN5 | Ly6/PLAUR domain-containing protein 5 |
- The Human Phenotype Ontology
| 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 |
