General Information of Disease (ID: DISDBVQP)

Disease Name Dilated cardiomyopathy 1HH
Synonyms
cardiomyopathy, dilated, 1HH; BAG3 familial isolated dilated cardiomyopathy; cardiomyopathy, dilated, type 1Hh; dilated cardiomyopathy type 1HH; CMD1HH; familial isolated dilated cardiomyopathy caused by mutation in BAG3
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISDBVQP: Dilated cardiomyopathy 1HH
Disease Identifiers
MONDO ID
MONDO_0013479
UMLS CUI
C3151293
OMIM ID
613881
MedGen ID
462643

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 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192.