Details of Disease

General Information of Disease (ID: DISNNML2)

Disease Name Dilated cardiomyopathy 1S
Synonyms
dilated cardiomyopathy-1S; left ventricular noncompaction 5; cardiomyopathy, dilated, 1S; dilated cardiomyopathy type 1S; familial isolated dilated cardiomyopathy caused by mutation in MYH7; cardiomyopathy, dilated, type 1S; CMD1S; MYH7 familial isolated dilated cardiomyopathy
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISNNML2: Dilated cardiomyopathy 1S
Disease Identifiers
MONDO ID
MONDO_0013262
UMLS CUI
C1834481
OMIM ID
613426
MedGen ID
371831

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYH7 TTNIMDP Strong Biomarker [1]
MYH7 TTNIMDP Definitive 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
MYH7 OT4Z9T8N Definitive Autosomal dominant [2]
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References

1 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
2 Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. Sci Rep. 2017 Nov 1;7(1):14829. doi: 10.1038/s41598-017-13675-8.