Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Definition
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
Also known as autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA, EDMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, LGMD1B, limb-girdle muscular dystrophy due to lamin A/C deficiency, LMNA autosomal dominant limb-girdle muscular dystrophy, muscular dystrophy, limb-girdle type 1B, proximal muscular dystrophy type 1B — per MONDO
Also identified as
- DOID 0070247 per MONDO
- DOID 0110301 per MONDO
- ICD9 425.4 per MONDO
- MESH C535898 per MONDO
- NCIT C126745 per MONDO
- OMIM 159001 per MONDO
- OMIM 181350 per MONDO
- Orphanet 264 per MONDO
- SCTID 240072005 per MONDO
- SCTID 718178006 per MONDO
- UMLS C0410190 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |