Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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:0001357 | Plagiocephaly |
| HP:0001371 | Flexion contracture |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001612 | Weak cry |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0007260 | Type II lissencephaly |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0010864 | Intellectual disability, severe |
| HP:0100490 | Camptodactyly of finger |
| HP:0000007 | Autosomal recessive inheritance |
