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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 |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2218 | FKTN | fukutin | |
| 2548 | GAA | alpha glucosidase | |
| 2710 | GK | glycerol kinase |
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: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 |
