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congenital muscular dystrophy-dystroglycanopathy type A3
Summary
- Synonym
-
- MDDGA3
- Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111236
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
| 495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
| 100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000546 | Retinal degeneration |
| HP:0000550 | Undetectable electroretinogram |
| HP:0000557 | Buphthalmos |
| HP:0000589 | Coloboma |
| HP:0000639 | Nystagmus |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000980 | Pallor |
| HP:0001105 | Retinal atrophy |
| HP:0001257 | Spasticity |
| HP:0001290 | Generalized hypotonia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
| 2218 | FKTN | fukutin |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 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 |
