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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Summary
- Synonym
-
- IBMPFD3
- MSP3
- multisystem proteinopathy 3
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111386
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002797 | Osteolysis |
| HP:0002839 | Urinary bladder sphincter dysfunction |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003307 | Hyperlordosis |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003557 | Increased variability in muscle fiber diameter |
