Details of Disease

General Information of Disease (ID: DIS2CICC)

Disease Name Dilated cardiomyopathy 2A
Synonyms cardiomyopathy, dilated, autosomal recessive; cardiomyopathy, dilated, 2A; cardiomyopathy, congestive, autosomal recessive; dilated cardiomyopathy type 2A; cardiomyopathy, dilated, type 2A; CMD2A
Definition A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DIS2CICC: Dilated cardiomyopathy 2A
Disease Identifiers
MONDO ID
MONDO_0012746
MESH ID
C567505
UMLS CUI
C2678474
OMIM ID
611880
MedGen ID
437214

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
TNNI3 TTNLDK6 Strong Biomarker [1]
TNNI3 TTNLDK6 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNNI3 OT65E12V Definitive Autosomal recessive [2]
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References

1 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
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.