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autosomal recessive limb-girdle muscular dystrophy type 2I
Summary
- Synonym
-
- LGMD2I
- Limb-girdle muscular dystrophy due to FKRP deficiency
- MDDGC5
- muscular dystrophy limb-girdle type 2I
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
- muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110299
- 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:0002515 | Waddling gait |
| HP:0009046 | Difficulty running |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003394 | Muscle spasm |
| HP:0005162 | Abnormal left ventricular function |
| HP:0001771 | Achilles tendon contracture |
| HP:0002948 | Vertebral fusion |
| HP:0000158 | Macroglossia |
