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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:0001332 | Dystonia |
| HP:0002505 | Loss of ambulation |
| HP:0000726 | Dementia |
| HP:0002273 | Tetraparesis |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001288 | Gait disturbance |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0003445 | EMG: neuropathic changes |
| HP:0004490 | Calvarial hyperostosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
