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 2U
Summary
- Synonym
-
- LGMD2U
- MDDGC7
- autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
- muscular dystrophy limb-girdle type 2U
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110295
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
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
| 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:0001626 | Abnormality of the cardiovascular system |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0002792 | Reduced vital capacity |
| HP:0003691 | Scapular winging |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003677 | Slowly progressive |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003236 | Elevated circulating creatine kinase concentration |
