Preferred Label : Emery-dreifuss muscular dystrophy 1, X-linked;
Symbol : EDMD1;
CISMeF acronym : EDMD1; EMD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Scapuloperoneal syndrome, X-linked; Humeroperoneal neuromuscular disease; EMD1; Muscular dystrophy, tardive, dreifuss-emery type, with contractures;
Description : Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness
and atrophy of muscle without involvement of the nervous system. Flexion deformities
of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac
involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles,
and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker
form (300376). - Genetic Heterogeneity of Emery-Dreifuss Muscular Dystrophy An autosomal
dominant form of Emery-Dreifuss muscular dystrophy, EDMD2 (181350), is caused by mutation
in the lamin A/C gene (LMNA; 150330); a possible autosomal recessive form of the disorder
that lacks cardiac features (EDMD3; see 181350) may be caused by mutation in the LMNA
gene (150330.0014). Additional autosomal dominant forms include EDMD4 (612998), caused
by mutation in the SYNE1 gene (608441), EDMD5 (612999), caused by mutation in the
SYNE2 gene (608442), and EDMD7 (614302), caused by mutation in the TMEM43 gene (612048).
A second X-linked form (EDMD6; see 300696) is caused by mutation in the FHL1 gene
(300163).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the emerin gene (EMD, 300384.0001);
Laboratory abnormalities : Atrial abnormalities on electrocardiogram; Myopathy with type I fiber atrophy on muscle biopsy; Absence of emerin by immunohistochemistry on muscle biopsy; Increased serum creatine kinase;
Prefixed ID : #310300;
Origin ID : 310300;
UMLS CUI : C5243475;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
