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MIRAGE
muscular dystrophy-dystroglycanopathy type B1
Summary
- Synonym
-
- CMD due to dystroglycanopathy
- Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
- Definition
- A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16795 | Large1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 68273 | Pomgnt1 | protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase | |
| 99011 | Pomt1 | protein-O-mannosyltransferase 1 | |
| 108902 | B4gat1 | beta-1,4-glucuronyltransferase 1 | |
| 243853 | Fkrp | fukutin related protein | |
| 246179 | Fktn | fukutin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| D9IG22 | LARGE-1 (Fragment) | |
| Q8BWP8 | Beta-1,4-glucuronyltransferase 1 | |
| Q8CG64 | Ribitol 5-phosphate transferase FKRP | |
| Q8R2R1 | Protein O-mannosyl-transferase 1 | |
| Q8R507 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000589 | Coloboma |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000618 | Blindness |
| HP:0000648 | Optic atrophy |
| HP:0001250 | Seizure |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001321 | Cerebellar hypoplasia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 79147 | FKRP | fukutin related protein |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 84197 | POMK | protein O-mannose kinase |
