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Fukuyama congenital muscular dystrophy
Summary
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 135228 | CD109 | CD109 molecule | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000496 | Abnormality of eye movement |
| HP:0000540 | Hypermetropia |
| HP:0001290 | Generalized hypotonia |
| HP:0001631 | Atrial septal defect |
| HP:0001642 | Pulmonic stenosis |
| HP:0001669 | Transposition of the great arteries |
| HP:0001685 | Myocardial fibrosis |
| HP:0002084 | Encephalocele |
| HP:0002093 | Respiratory insufficiency |
| HP:0002267 | Exaggerated startle response |
