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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
Summary
- Synonym
-
- IBMPFD2
- MSP2
- multisystem proteinopathy 2
- Definition
- An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
- Super Class
- autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
- Disease Ontology
- DOID:0111384
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22626 | Heterogeneous nuclear ribonucleoproteins A2/B1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003445 | EMG: neuropathic changes |
| HP:0004490 | Calvarial hyperostosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies |
| HP:0003701 | Proximal muscle weakness |
| HP:0002839 | Urinary bladder sphincter dysfunction |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0003390 | Sensory axonal neuropathy |
