Details of Disease

General Information of Disease (ID: DIS6BS3B)

Disease Name Myofibrillar myopathy 6
Synonyms
myopathy, myofibrillar, Bag3-related; MFM6; myopathy, myofibrillar, 6; BAG3-related myofibrillar myopathy; muscular dystrophy, Selcen type; myofibrillar myopathy type 6; myofibrillar myopathy (disease) caused by mutation in BAG3; myopathy, myofibrillar, type 6; BAG3 myofibrillar myopathy (disease); myofibrillar myopathy 6
Definition
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
Disease Hierarchy
DISF24LW: Myofibrillar myopathy
DIS6BS3B: Myofibrillar myopathy 6
Disease Identifiers
MONDO ID
MONDO_0013061
MESH ID
C567843
UMLS CUI
C2751831
OMIM ID
612954
MedGen ID
414119
Orphanet ID
199340

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
BAG3 OTVXYUDQ Definitive Autosomal dominant [1]
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References

1 Myofibrillar myopathies: new developments. Curr Opin Neurol. 2013 Oct;26(5):527-35. doi: 10.1097/WCO.0b013e328364d6b1.