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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 |
|---|---|---|
| P29401 | Transketolase | |
| P30101 | Protein disulfide-isomerase A3 | |
| P32004 | Neural cell adhesion molecule L1 | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P34897 | Serine hydroxymethyltransferase, mitochondrial | |
| P34913 | Bifunctional epoxide hydrolase 2 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P35475 | Alpha-L-iduronidase | |
| P35610 | Sterol O-acyltransferase 1 | |
| P36222 | Chitinase-3-like protein 1 |
- The Human Phenotype Ontology
| 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 |
