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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003700 | Generalized amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003805 | Rimmed vacuoles |
| HP:0004322 | Short stature |
| HP:0004347 | Weakness of muscles of respiration |
| HP:0004490 | Calvarial hyperostosis |
| HP:0007002 | Motor axonal neuropathy |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0011314 | Abnormal long bone morphology |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies |
