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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 |
|---|---|---|---|
| 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 |
|---|---|---|
| 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 |
