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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 |
|---|---|---|---|
| 1837 | DTNA | dystrobrevin alpha | |
| 3679 | ITGA7 | integrin subunit alpha 7 | |
| 3778 | KCNMA1 | potassium calcium-activated channel subfamily M alpha 1 | |
| 4842 | NOS1 | nitric oxide synthase 1 | |
| 6645 | SNTB2 | syntrophin beta 2 | |
| 7402 | UTRN | utrophin | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8727 | CTNNAL1 | catenin alpha like 1 | |
| 9152 | SLC6A5 | solute carrier family 6 member 5 | |
| 11254 | SLC6A14 | solute carrier family 6 member 14 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12288 | Cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | |
| 12289 | Cacna1d | calcium channel, voltage-dependent, L type, alpha 1D subunit | |
| 12292 | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | |
| 13040 | Ctss | cathepsin S | |
| 13138 | Dag1 | dystroglycan 1 | |
| 13405 | Dmd | dystrophin, muscular dystrophy | |
| 13528 | Dtnb | dystrobrevin, beta | |
| 16404 | Itga7 | integrin alpha 7 | |
| 16531 | Kcnma1 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | |
| 20650 | Sntb2 | syntrophin, basic 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24239 | Cacna1c | calcium voltage-gated channel subunit alpha1 C | |
| 24598 | Nos1 | nitric oxide synthase 1 | |
| 50654 | Ctss | cathepsin S | |
| 81008 | Itga7 | integrin subunit alpha 7 | |
| 114493 | Cacna1f | calcium voltage-gated channel subunit alpha1 F | |
| 171148 | Slc6a5 | solute carrier family 6 member 5 | |
| 192363 | Nos1ap | nitric oxide synthase 1 adaptor protein | |
| 682930 | Cacna1s | calcium voltage-gated channel subunit alpha1 S |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 170581 | cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit | |
| 403310 | cacna1da | calcium channel, voltage-dependent, L type, alpha 1D subunit, a | |
| 405791 | cacna1sb | calcium channel, voltage-dependent, L type, alpha 1S subunit, b | |
| 559964 | cacna1fb | calcium channel, voltage-dependent, L type, alpha 1F subunit | |
| 570683 | cacna1sa | calcium channel, voltage-dependent, L type, alpha 1S subunit, a |
