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muscular dystrophy-dystroglycanopathy type B5
Summary
- Synonym
-
- FKRP-related congenital muscular dystrophy
- MDC1C
- MDDGB5
- congenital muscular dystrophy 1C
- muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
- muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0110635
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
- 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 |
| 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 |
| 84197 | POMK | protein O-mannose kinase |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
