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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Gerstmann-Straussler-Scheinker syndrome
Summary
- Synonym
-
- Gerstmann-Straussler-Scheinker disease
- PRION DEMENTIA
- Definition
- A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
- Super Class
- prion disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2992 | GYG1 | glycogenin 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 4190 | MDH1 | malate dehydrogenase 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54840 | Glycogen [starch] synthase, liver | |
| Q04446 | 1,4-alpha-glucan-branching enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007772 | Impaired smooth pursuit |
| HP:0001300 | Parkinsonism |
| HP:0000709 | Psychosis |
| HP:0001337 | Tremor |
| HP:0002185 | Neurofibrillary tangles |
| HP:0003678 | Rapidly progressive |
| HP:0001272 | Cerebellar atrophy |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001336 | Myoclonus |
| HP:0002078 | Truncal ataxia |
