Details of Disease | DrugMAP

General Information of Disease (ID: DIS5GW01)

Disease Name	Dilated cardiomyopathy 1O
Synonyms	cardiomyopathy, dilated, with ventricular tachycardia; cardiomyopathy, dilated, 1O; dilated cardiomyopathy with ventricular tachycardia; dilated cardiomyopathy type 1O; cardiomyopathy, dilated, type 1O; ABCC9 familial isolated dilated cardiomyopathy; CMD1O; familial isolated dilated cardiomyopathy caused by mutation in ABCC9
Definition	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.
Disease Hierarchy	DISBHDU9: Familial dilated cardiomyopathy DIS5GW01: Dilated cardiomyopathy 1O
Disease Identifiers	MONDO ID MONDO_0012062 MESH ID C563906 UMLS CUI C1837839 OMIM ID 608569 MedGen ID 325268

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC9	TTEF5MJ	moderate	CausalMutation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC9	DT3JCE6	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC9	OTGAXLQN	Strong	Autosomal dominant	[2]
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References

1	De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.
2	ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7. doi: 10.1038/ng1329. Epub 2004 Mar 21.