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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
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: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 |
