Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 8972 | MGAM | maltase-glucoamylase | |
| 9104 | RGN | regucalcin | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 22933 | SIRT2 | sirtuin 2 | |
| 26033 | ATRNL1 | attractin like 1 |
| 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:0003560 | Muscular dystrophy |
| HP:0100297 | Increased endomysial connective tissue |
| HP:0003307 | Hyperlordosis |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0001270 | Motor delay |
| HP:0003676 | Progressive |
| HP:0011003 | High myopia |
| HP:0003551 | Difficulty climbing stairs |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003621 | Juvenile onset |
