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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 |
|---|---|---|---|
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7369 | UMOD | uromodulin | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8527 | DGKD | diacylglycerol kinase delta | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8987 | STBD1 | starch binding domain 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 | |
| Q9Y2H2 | Phosphatidylinositide phosphatase SAC2 |
- 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 |
