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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 |
|---|---|---|---|
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2026 | ENO2 | enolase 2 | |
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2194 | FASN | fatty acid synthase | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2571 | GAD1 | glutamate decarboxylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| O60931 | Cystinosin | |
| O75015 | Low affinity immunoglobulin gamma Fc region receptor III-B | |
| O95210 | Starch-binding domain-containing protein 1 | |
| P00325 | All-trans-retinol dehydrogenase [NAD(+)] ADH1B | |
| P00326 | Alcohol dehydrogenase 1C | |
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein |
- The Human Phenotype Ontology
| 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 |
