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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 |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6383 | SDC2 | syndecan 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
| P22303 | Acetylcholinesterase |
- 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 |
