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congenital myopathy 4A
Summary
- Synonym
-
- CFTD
- congenital fiber-type disproportion
- Definition
- A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
- Super Class
- autosomal dominant disease congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:0080102
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 952 | CD38 | CD38 molecule | |
| 1120 | CHKB | choline kinase beta | |
| 2218 | FKTN | fukutin | |
| 4534 | MTM1 | myotubularin 1 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 64419 | MTMR14 | myotubularin related protein 14 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002751 | Kyphoscoliosis |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003273 | Hip contracture |
| HP:0003307 | Hyperlordosis |
| HP:0003323 | Progressive muscle weakness |
| HP:0003324 | Generalized muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003749 | Pelvic girdle muscle weakness |
