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MIRAGE
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Summary
- Definition
- A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
- Super Class
- autosomal dominant disease frontotemporal dementia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28799 | Progranulin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010523 | Alexia |
| HP:0100256 | Senile plaques |
| HP:0006977 | Deficit in grammar |
| HP:0011204 | EEG with continuous slow activity |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0007112 | Temporal cortical atrophy |
| HP:0100315 | Lewy bodies |
| HP:0010526 | Dysgraphia |
