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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 |
|---|---|---|
| O43451 | Maltase-glucoamylase | |
| P04156 | Major prion protein | |
| P06737 | Glycogen phosphorylase, liver form | |
| P07741 | Adenine phosphoribosyltransferase | |
| P11217 | Glycogen phosphorylase, muscle form | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P22303 | Acetylcholinesterase | |
| P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
| P40925 | Malate dehydrogenase, cytoplasmic | |
| P46976 | Glycogenin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002066 | Gait ataxia |
| HP:0001284 | Areflexia |
| HP:0007340 | Lower limb muscle weakness |
| HP:0001260 | Dysarthria |
| HP:0002360 | Sleep abnormality |
| HP:0012534 | Dysesthesia |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0000726 | Dementia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0011730 | Abnormal central sensory function |
