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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 |
|---|---|---|
| P15104 | Glutamine synthetase | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17405 | Sphingomyelin phosphodiesterase | |
| P17931 | Galectin-3 | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19835 | Bile salt-activated lipase |
- 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 |
