Details of Disease

General Information of Disease (ID: DIS4AJ17)

Disease Name Cardiomyopathy, familial restrictive, 1
Synonyms
RCM1; Rcm; cardiomyopathy, familial restrictive, type 1; familial isolated restrictive cardiomyopathy caused by mutation in TNNI3; TNNI3 familial isolated restrictive cardiomyopathy; cardiomyopathy, familial restrictive, 1
Definition Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
Disease Hierarchy
DISL4MMU: Familial restrictive cardiomyopathy
DIS4AJ17: Cardiomyopathy, familial restrictive, 1
Disease Identifiers
MONDO ID
MONDO_0007270
MESH ID
C566168
UMLS CUI
C1861861
OMIM ID
115210
MedGen ID
396236

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYAB TT7RUHB Strong Genetic Variation [1]
TNNI3 TTNLDK6 Strong Autosomal dominant [2]
TNNI3 TTNLDK6 Strong Biomarker [3]
TNNT2 TTWAS18 Strong Biomarker [4]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FLNC OT3F8J6Y moderate Biomarker [5]
MYL2 OT78PC0C moderate Biomarker [6]
MYL3 OTKD3RSX moderate Genetic Variation [6]
RBM20 OTOQZNKS moderate Biomarker [7]
ACTC1 OTJU04B1 Strong Genetic Variation [8]
DES OTI09KBW Strong Genetic Variation [9]
MYPN OTHTOFDU Strong Genetic Variation [10]
TNNI3 OT65E12V Strong Autosomal dominant [2]
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⏷ Show the Full List of 8 DOT(s)

References

1 The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.
2 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. 2003 Jan;111(2):209-16. doi: 10.1172/JCI16336.
3 Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.
4 Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. J Hum Genet. 2018 Sep;63(9):989-996. doi: 10.1038/s10038-018-0479-y. Epub 2018 Jun 15.
5 Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.Hum Mutat. 2018 Dec;39(12):2083-2096. doi: 10.1002/humu.23661. Epub 2018 Oct 22.
6 Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.Am J Med Genet A. 2011 Sep;155A(9):2229-35. doi: 10.1002/ajmg.a.34097. Epub 2011 Aug 5.
7 Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.Sci Rep. 2017 Jan 18;7:39276. doi: 10.1038/srep39276.
8 Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.
9 Titin mutation in familial restrictive cardiomyopathy.Int J Cardiol. 2014 Jan 15;171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25.
10 Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 May 1;21(9):2039-53. doi: 10.1093/hmg/dds022. Epub 2012 Jan 27.