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centronuclear myopathy X-linked
Summary
- Synonym
-
- CNMX
- MTM1
- X-linked myotubular myopathy
- XLCNM
- XLMTM
- myotubular myopathy 1
- Definition
- A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
- Super Class
- centronuclear myopathy
External Links
- Disease Ontology
- DOID:0111225
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4534 | MTM1 | myotubularin 1 | |
| 8776 | MTMR1 | myotubularin related protein 1 | |
| 8897 | MTMR3 | myotubularin related protein 3 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9107 | MTMR6 | myotubularin related protein 6 | |
| 9108 | MTMR7 | myotubularin related protein 7 | |
| 9110 | MTMR4 | myotubularin related protein 4 | |
| 55613 | MTMR8 | myotubularin related protein 8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002090 | Pneumonia |
| HP:0002098 | Respiratory distress |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002540 | Inability to walk |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0006829 | Severe muscular hypotonia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0000028 | Cryptorchidism |
