Details of Disease

General Information of Disease (ID: DISTHIJQ)

Disease Name Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Synonyms
EDMD7; EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; Ehlers-Danlos syndrome, classic-like, 1; TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43
Definition Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.
Disease Hierarchy
DISL8GMY: Autosomal dominant Emery-Dreifuss muscular dystrophy
DISTHIJQ: Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0013677
UMLS CUI
C3553060
OMIM ID
614302
MedGen ID
765974

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMEM43 OTM9RS9G Limited Autosomal dominant [1]
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References

1 TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.