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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 |
|---|---|---|---|
| 6470 | SHMT1 | serine hydroxymethyltransferase 1 | |
| 6472 | SHMT2 | serine hydroxymethyltransferase 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 6610 | SMPD2 | sphingomyelin phosphodiesterase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 6888 | TALDO1 | transaldolase 1 | |
| 6900 | CNTN2 | contactin 2 | |
| 7086 | TKT | transketolase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 | |
| Q9Y2H2 | Phosphatidylinositide phosphatase SAC2 |
- 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 |
