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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:0001371 | Flexion contracture |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001612 | Weak cry |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002119 | Ventriculomegaly |
| HP:0003560 | Muscular dystrophy |
| HP:0007260 | Type II lissencephaly |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007973 | Retinal dysplasia |
| HP:0010864 | Intellectual disability, severe |
