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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
External Links
- Disease Ontology
- DOID:0050559
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8R507 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000482 | Microcornea |
| HP:0000528 | Anophthalmia |
| HP:0000541 | Retinal detachment |
| HP:0000556 | Retinal dystrophy |
| HP:0000568 | Microphthalmia |
| HP:0000587 | Abnormal optic nerve morphology |
| HP:0000612 | Iris coloboma |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
| 2218 | FKTN | fukutin |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
| 79147 | FKRP | fukutin related protein |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 |
