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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 |
|---|---|---|---|
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001288 | Gait disturbance |
| HP:0001360 | Holoprosencephaly |
| HP:0001608 | Abnormality of the voice |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002353 | EEG abnormality |
| HP:0002435 | Meningocele |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003457 | EMG abnormality |
| HP:0004374 | Hemiplegia/hemiparesis |
