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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 |
|---|---|---|---|
| 2710 | GK | glycerol kinase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2817 | GPC1 | glypican 1 | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 3633 | INPP5B | inositol polyphosphate-5-phosphatase B |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10253 | Lysosomal alpha-glucosidase | |
| P11226 | Mannose-binding protein C | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P11532 | Dystrophin | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P12821 | Angiotensin-converting enzyme | |
| P13611 | Versican core protein | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16278 | Beta-galactosidase |
