Details of Disease

General Information of Disease (ID: DISFAF31)

Disease Name Restrictive cardiomyopathy
Synonyms familial restrictive cardiomyopathy; restrictive cardiomyopathy; primary restrictive cardiomyopathy; cardiomyopathy, constrictive
Definition
A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
Disease Hierarchy
DISYBB39: Intrinsic cardiomyopathy
DISFAF31: Restrictive cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0005201
MESH ID
D002313
UMLS CUI
C0007196
MedGen ID
40111
HPO ID
HP:0001723
Orphanet ID
217632
SNOMED CT ID
415295002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TNNI3 TTNLDK6 moderate Genetic Variation [1]
TNNT2 TTWAS18 moderate Genetic Variation [2]
CCN2 TTIL516 Strong Biomarker [3]
MYBPC3 TT9WOBN Strong Genetic Variation [4]
MYH7 TTNIMDP Strong CausalMutation [5]
PRKCD TT7A1BO Strong Biomarker [6]
TNNC1 TT8RDXP Strong Biomarker [7]
TTR TTPOYU7 Strong Biomarker [8]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BAG3 OTVXYUDQ Strong Genetic Variation [9]
DES OTI09KBW Strong Genetic Variation [10]
FLNC OT3F8J6Y Strong Genetic Variation [11]
MYPN OTHTOFDU Strong Genetic Variation [12]
TMEM87B OTXT7BCU Strong Genetic Variation [13]
MYL2 OT78PC0C Definitive Genetic Variation [14]
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⏷ Show the Full List of 6 DOT(s)

References

1 Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.Korean Circ J. 2017 Mar;47(2):270-277. doi: 10.4070/kcj.2016.0213. Epub 2017 Mar 13.
2 Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics. 2006 May;117(5):1830-3. doi: 10.1542/peds.2005-2301.
3 Protective effect of total aralosides of Aralia elata (Miq) Seem (TASAES) against diabetic cardiomyopathy in rats during the early stage, and possible mechanisms.Exp Mol Med. 2009 Aug 31;41(8):538-47. doi: 10.3858/emm.2009.41.8.059.
4 Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.J Am Heart Assoc. 2015 Jul 10;4(7):e001879. doi: 10.1161/JAHA.115.001879.
5 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.
6 Changes in protein kinase C in early cardiomyopathy and in gracilis muscle in the BB/Wor diabetic rat.Am J Physiol. 1998 Jan;274(1):H295-307. doi: 10.1152/ajpheart.1998.274.1.H295.
7 Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.Am J Med Genet A. 2016 Dec;170(12):3241-3248. doi: 10.1002/ajmg.a.37860. Epub 2016 Sep 8.
8 Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy.Amyloid. 2017 Dec;24(4):219-225. doi: 10.1080/13506129.2017.1374946. Epub 2017 Sep 14.
9 Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.Mol Genet Metab. 2018 Mar;123(3):388-399. doi: 10.1016/j.ymgme.2018.01.001. Epub 2018 Jan 6.
10 Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.Genes (Basel). 2019 Nov 11;10(11):918. doi: 10.3390/genes10110918.
11 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.
12 Myopalladin promotes muscle growth through modulation of the serum response factor pathway.J Cachexia Sarcopenia Muscle. 2020 Feb;11(1):169-194. doi: 10.1002/jcsm.12486. Epub 2019 Oct 24.
13 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844.
14 Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation.Circulation. 2019 Aug 27;140(9):765-778. doi: 10.1161/CIRCULATIONAHA.118.036965. Epub 2019 Jul 18.