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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 |
|---|---|---|---|
| 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 |
|---|---|---|
| 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:0002360 | Sleep abnormality |
| HP:0002362 | Shuffling gait |
| HP:0002367 | Visual hallucination |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| HP:0003394 | Muscle spasm |
| HP:0004409 | Hyposmia |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0005340 | Spastic/hyperactive bladder |
| HP:0012450 | Chronic constipation |
| HP:0100315 | Lewy bodies |
