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autosomal recessive limb-girdle muscular dystrophy type 2M
Summary
- Synonym
-
- LGMD2M
- MDDGC4
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110296
- 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 |
|---|---|---|
| Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002359 | Frequent falls |
| HP:0003701 | Proximal muscle weakness |
| HP:0001265 | Hyporeflexia |
| HP:0011727 | Peroneal muscle weakness |
| HP:0003391 | Gowers sign |
| HP:0000767 | Pectus excavatum |
| HP:0003593 | Infantile onset |
| HP:0001371 | Flexion contracture |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003307 | Hyperlordosis |
