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Duchenne muscular dystrophy
Summary
- Synonym
-
- Muscular dystrophy, Duchenne
- Definition
- A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
- Super Class
- X-linked recessive disease muscular dystrophy
External Links
- Disease Ontology
- DOID:11723
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9104 | RGN | regucalcin | |
| 9173 | IL1RL1 | interleukin 1 receptor like 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9365 | KL | klotho | |
| 9388 | LIPG | lipase G, endothelial type | |
| 9672 | SDC3 | syndecan 3 | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 11332 | ACOT7 | acyl-CoA thioesterase 7 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75056 | Syndecan-3 | |
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P05187 | Alkaline phosphatase, placental type | |
| P06733 | Alpha-enolase | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09382 | Galectin-1 | |
| P09874 | Poly [ADP-ribose] polymerase 1 |
