Details of Disease | DrugMAP

General Information of Disease (ID: DIS6YW38)

Disease Name	Cardiomyopathy, dilated, 2F
Synonyms	cardiomyopathy, dilated, 2F; CMD2F
Definition	A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.
Disease Hierarchy	DISBHDU9: Familial dilated cardiomyopathy DIS6YW38: Cardiomyopathy, dilated, 2F
Disease Identifiers	MONDO ID MONDO_0030680 UMLS CUI C5676917 OMIM ID 619747 MedGen ID 1802616

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
BAG5	OT0J97C6	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation. Sci Transl Med. 2022 Jan 19;14(628):eabf3274. doi: 10.1126/scitranslmed.abf3274. Epub 2022 Jan 19.