Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22303 | Acetylcholinesterase | |
| P22304 | Iduronate 2-sulfatase | |
| Q13613 | Myotubularin-related protein 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q8NCE2 | Myotubularin-related protein 14 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001622 | Premature birth |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
| HP:0000478 | Abnormality of the eye |
| HP:0002098 | Respiratory distress |
| HP:0000268 | Dolichocephaly |
| HP:0002540 | Inability to walk |
| HP:0001558 | Decreased fetal movement |
| HP:0006829 | Severe muscular hypotonia |
| HP:0002033 | Poor suck |
| HP:0000218 | High palate |
