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autosomal recessive limb-girdle muscular dystrophy type 2T
Summary
- Synonym
-
- LGMD2T
- MDDGC14
- muscular dystrophy limb-girdle type 2T
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
- muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110294
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 3633 | INPP5B | inositol polyphosphate-5-phosphatase B | |
| 3958 | LGALS3 | galectin 3 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 5553 | PRG2 | proteoglycan 2, pro eosinophil major basic protein |
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:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0001263 | Global developmental delay |
| HP:0100543 | Cognitive impairment |
| HP:0000639 | Nystagmus |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000467 | Neck muscle weakness |
| HP:0003551 | Difficulty climbing stairs |
| HP:0001638 | Cardiomyopathy |
| HP:0008997 | Proximal muscle weakness in upper limbs |
