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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 |
|---|---|---|---|
| 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:0003307 | Hyperlordosis |
| HP:0002355 | Difficulty walking |
| HP:0002808 | Kyphosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0003828 | Variable expressivity |
| HP:0003326 | Myalgia |
| HP:0008305 | Exercise-induced myoglobinuria |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0003733 | Thigh hypertrophy |
