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MIRAGE
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
Summary
- Synonym
-
- IBMPFD1
- MSP1
- multisystem proteinopathy 1
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111385
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55072 | Transitional endoplasmic reticulum ATPase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002145 | Frontotemporal dementia |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0001293 | Cranial nerve compression |
| HP:0002756 | Pathologic fracture |
| HP:0002442 | Dyscalculia |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0002460 | Distal muscle weakness |
| HP:0001635 | Congestive heart failure |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002380 | Fasciculations |
