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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- 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 |
