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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 |
|---|---|---|---|
| 2572 | GAD2 | glutamate decarboxylase 2 | |
| 2581 | GALC | galactosylceramidase | |
| 2583 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2752 | GLUL | glutamate-ammonia ligase |
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:0001824 | Weight loss |
| HP:0002015 | Dysphagia |
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002171 | Gliosis |
| HP:0002172 | Postural instability |
| HP:0002304 | Akinesia |
| HP:0002322 | Resting tremor |
| HP:0002359 | Frequent falls |
