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autosomal recessive limb-girdle muscular dystrophy type 2N
Summary
- Synonym
-
- LGMD2N
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
- muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110298
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 120071 | LARGE2 | LARGE xylosyl- and glucuronyltransferase 2 | |
| 124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0011712 | Right bundle branch block |
| HP:0002119 | Ventriculomegaly |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0001328 | Specific learning disability |
| HP:0003691 | Scapular winging |
| HP:0007126 | Proximal amyotrophy |
| HP:0002355 | Difficulty walking |
| HP:0001263 | Global developmental delay |
| HP:0003697 | Scapuloperoneal amyotrophy |
