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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 |
|---|---|---|---|
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55750 | AGK | acylglycerol kinase | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
| P05187 | Alkaline phosphatase, placental type | |
| P06733 | Alpha-enolase | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P10253 | Lysosomal alpha-glucosidase | |
| P11217 | Glycogen phosphorylase, muscle form | |
| P11226 | Mannose-binding protein C |
- 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 |
