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MIRAGE
muscular dystrophy-dystroglycanopathy type B6
Summary
- Synonym
-
- MDC1D
- MDDGB6
- congenital muscular dystrophy LARGE-related
- congenital muscular dystrophy type 1D
- muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
- muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0110637
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| D9IG22 | LARGE-1 (Fragment) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002650 | Scoliosis |
| HP:0002827 | Hip dislocation |
| HP:0002828 | Multiple joint contractures |
| HP:0002878 | Respiratory failure |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003327 | Axial muscle weakness |
| HP:0003549 | Abnormality of connective tissue |
| HP:0003712 | Skeletal muscle hypertrophy |
