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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:0000518 | Cataract |
| HP:0002450 | Abnormal motor neuron morphology |
| HP:0001397 | Hepatic steatosis |
| HP:0002515 | Waddling gait |
| HP:0002300 | Mutism |
| HP:0002683 | Abnormal calvaria morphology |
| HP:0001638 | Cardiomyopathy |
| HP:0002463 | Language impairment |
| HP:0001249 | Intellectual disability |
| HP:0002381 | Aphasia |
