Details of Disease

General Information of Disease (ID: DIS7YC1S)

Disease Name Dilated cardiomyopathy 3B
Synonyms
DMD-related dilated cardiomyopathy; X-linked dilated cardiomyopathy; cardiomyopathy, dilated, X-linked; cardiomyopathy, dilated, 3B; cardiomyopathy, dilated, type 3B; CMD3B; dilated cardiomyopathy caused by mutation in DMD; dilated cardiomyopathy type 3B; DMD dilated cardiomyopathy; dilated cardiomyopathy 3B
Definition Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.
Disease Hierarchy
DIS22H66: Qualitative or quantitative defects of dystrophin
DISBHDU9: Familial dilated cardiomyopathy
DISX608J: Dilated cardiomyopathy
DISD715V: Hereditary neurological disease
DIS7YC1S: Dilated cardiomyopathy 3B
Disease Identifiers
MONDO ID
MONDO_0010542
MESH ID
C580047
UMLS CUI
C3668940
OMIM ID
302045
MedGen ID
777148
SNOMED CT ID
702424003

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
DMD TTWLFXU Limited Genetic Variation [1]
DMD TT2TNRM Definitive X-linked [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BEST1 OTWHE1ZC Strong Biomarker [3]
DMD OTD21T5J Definitive X-linked [2]
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References

1 A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.Medicine (Baltimore). 2018 Jun;97(24):e11074. doi: 10.1097/MD.0000000000011074.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.Neuromuscul Disord. 2007 Dec;17(11-12):913-8. doi: 10.1016/j.nmd.2007.07.005. Epub 2007 Sep 7.