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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:0001297 | Stroke |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0000716 | Depression |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002185 | Neurofibrillary tangles |
| HP:0000708 | Atypical behavior |
| HP:0002300 | Mutism |
| HP:0000751 | Personality changes |
| HP:0002427 | Expressive aphasia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
