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autosomal recessive limb-girdle muscular dystrophy type 2O
Summary
- Synonym
-
- LGMD2O
- MDDGC3
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
- muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110292
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 176 | ACAN | aggrecan | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 239 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1119 | CHKA | choline kinase alpha |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
| 495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
| 100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
| P22303 | Acetylcholinesterase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003391 | Gowers sign |
| HP:0012378 | Fatigue |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003701 | Proximal muscle weakness |
