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Parkinson's disease 4
Summary
- Synonym
-
- autosomal dominant Lewy body Parkinson disease 4
- autosomal dominant Parkinson disease 4
- autosomal dominant Parkinson's disease 4
- Definition
- A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
- Super Class
- autosomal dominant disease late onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060895
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 65078 | RTN4R | reticulon 4 receptor | |
| 79154 | DHRS11 | dehydrogenase/reductase 11 | |
| 79661 | NEIL1 | nei like DNA glycosylase 1 | |
| 79993 | ELOVL7 | ELOVL fatty acid elongase 7 | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | |
| 80351 | TNKS2 | tankyrase 2 | |
| 132789 | GNPDA2 | glucosamine-6-phosphate deaminase 2 | |
| 151056 | PLB1 | phospholipase B1 |
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:0000338 | Hypomimic face |
| HP:0000651 | Diplopia |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000741 | Apathy |
| HP:0000744 | Low frustration tolerance |
| HP:0001268 | Mental deterioration |
| HP:0001300 | Parkinsonism |
| HP:0001332 | Dystonia |
