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myotonic dystrophy type 2
Summary
- Definition
- A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
- Super Class
- myotonic disease
External Links
- Disease Ontology
- DOID:0050759
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3423 | IDS | iduronate 2-sulfatase | |
| 4023 | LPL | lipoprotein lipase | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4534 | MTM1 | myotubularin 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99999 | Galactosylceramide sulfotransferase | |
| Q9BXR0 | Queuine tRNA-ribosyltransferase catalytic subunit 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
