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muscular dystrophy-dystroglycanopathy type B3
Summary
- Synonym
-
- MDDGB3
- congenital muscular dystrophy POMGNT1-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112378
- 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:0002365 | Hypoplasia of the brainstem |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003560 | Muscular dystrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003707 | Calf muscle pseudohypertrophy |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0006899 | Fusion of the cerebellar hemispheres |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0007204 | Diffuse white matter abnormalities |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 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 |
| 84197 | POMK | protein O-mannose kinase |
