Details of Disease

General Information of Disease (ID: DIS4FXO4)

Disease Name Obsolete familial isolated dilated cardiomyopathy
Synonyms familial or idiopathic dilated cardiomyopathy; familial isolated dilated cardiomyopathy
Definition
OBSOLETE. Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS4FXO4: Obsolete familial isolated dilated cardiomyopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 45 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TXNRD2 OTZQQC3T Supportive Autosomal dominant [1]
VCL OTPQ0JYS Supportive Autosomal dominant [2]
ABCC9 OTGAXLQN Supportive Autosomal dominant [13]
ACTC1 OTJU04B1 Supportive Autosomal dominant [14]
ACTN2 OT9FOLD7 Supportive Autosomal dominant [3]
ANKRD1 OTHJ7JV9 Supportive Autosomal dominant [15]
BAG3 OTVXYUDQ Supportive Autosomal dominant [16]
CAP2 OTC1WFNO Supportive Autosomal dominant [17]
CRYAB OTY4JGYU Supportive Autosomal dominant [18]
CSRP3 OTECBJMV Supportive Autosomal dominant [3]
DES OTI09KBW Supportive Autosomal dominant [19]
DMD OTD21T5J Supportive Autosomal dominant [3]
DOLK OT2HTIAN Supportive Autosomal dominant [20]
DSG2 OTJPB2TO Supportive Autosomal dominant [21]
DSP OTB2MOP8 Supportive Autosomal dominant [22]
FHL2 OT0OAYWT Supportive Autosomal dominant [23]
FKTN OTQ9GCXL Supportive Autosomal dominant [24]
GATAD1 OT0UZ3EP Supportive Autosomal dominant [25]
HAND2 OTCXYW4Y Supportive Autosomal dominant [26]
LAMA4 OTHI7TA0 Supportive Autosomal dominant [27]
LDB3 OTGQL1AM Supportive Autosomal dominant [28]
LMNA OT3SG7ZR Supportive Autosomal dominant [29]
MYBPC3 OT8IG00B Supportive Autosomal dominant [4]
MYH6 OT3YNCH1 Supportive Autosomal dominant [30]
MYH7 OT4Z9T8N Supportive Autosomal dominant [5]
MYPN OTHTOFDU Supportive Autosomal dominant [31]
NEXN OTKB0B0H Supportive Autosomal dominant [32]
PLN OTT3RRJN Supportive Autosomal dominant [6]
PPCS OT344CQO Supportive Autosomal dominant [33]
PRDM16 OT0BGA27 Supportive Autosomal dominant [34]
PSEN1 OTKL39RT Supportive Autosomal dominant [7]
PSEN2 OTOW778B Supportive Autosomal dominant [7]
RAF1 OT51LSFO Supportive Autosomal dominant [8]
RBM20 OTOQZNKS Supportive Autosomal dominant [35]
SCN5A OTGYZWR6 Supportive Autosomal dominant [9]
SDHA OTOJ8QFF Supportive Autosomal dominant [36]
SGCD OTRBL3NQ Supportive Autosomal dominant [37]
TAF1A OTEH7OFT Supportive Autosomal dominant [38]
TCAP OTQQMJ94 Supportive Autosomal dominant [39]
TMPO OTL68EL4 Supportive Autosomal dominant [40]
TNNC1 OT9A0FL4 Supportive Autosomal dominant [10]
TNNI3 OT65E12V Supportive Autosomal dominant [11]
TNNT2 OT80NN7R Supportive Autosomal dominant [12]
TPM1 OTD73X6R Supportive Autosomal dominant [41]
TTN OT0LZ058 Supportive Autosomal dominant [42]
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⏷ Show the Full List of 45 DOT(s)
This Disease Is Related to 11 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DMD TT2TNRM Supportive Autosomal dominant [3]
MYBPC3 TT9WOBN Supportive Autosomal dominant [4]
MYH7 TTNIMDP Supportive Autosomal dominant [5]
PLN TTMCVJF Supportive Autosomal dominant [6]
PSEN1 TTZ3S8C Supportive Autosomal dominant [7]
PSEN2 TTWN3F4 Supportive Autosomal dominant [7]
RAF1 TTB18GJ Supportive Autosomal dominant [8]
SCN5A TTZOVE0 Supportive Autosomal dominant [9]
TNNC1 TT8RDXP Supportive Autosomal dominant [10]
TNNI3 TTNLDK6 Supportive Autosomal dominant [11]
TNNT2 TTWAS18 Supportive Autosomal dominant [12]
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⏷ Show the Full List of 11 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC9 DT3JCE6 Supportive Autosomal dominant [13]
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References

1 Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. Eur Heart J. 2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18.
2 Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002 Jan 29;105(4):431-7. doi: 10.1161/hc0402.102930.
3 Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. doi: 10.1016/s1096-7192(03)00142-2.
4 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9.
5 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. doi: 10.1056/NEJM200012073432304.
6 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science. 2003 Feb 28;299(5611):1410-3. doi: 10.1126/science.1081578.
7 Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. doi: 10.1086/509900. Epub 2006 Oct 24.
8 RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28.
9 SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation. 2004 Oct 12;110(15):2163-7. doi: 10.1161/01.CIR.0000144458.58660.BB. Epub 2004 Oct 4.
10 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40. doi: 10.1016/j.jacc.2004.08.027.
11 Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 2004 Jan 31;363(9406):371-2. doi: 10.1016/S0140-6736(04)15468-8.
12 Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation. 2001 Oct 30;104(18):2188-93. doi: 10.1161/hc4301.098285.
13 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7. doi: 10.1038/ng1329. Epub 2004 Mar 21.
14 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2. doi: 10.1126/science.280.5364.750.
15 Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. doi: 10.1093/eurheartj/ehp225. Epub 2009 Jun 12.
16 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.
17 CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. J Med Genet. 2019 Apr;56(4):228-235. doi: 10.1136/jmedgenet-2018-105498. Epub 2018 Dec 5.
18 Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. doi: 10.1016/j.bbrc.2006.01.154. Epub 2006 Feb 8.
19 Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation. 1999 Aug 3;100(5):461-4. doi: 10.1161/01.cir.100.5.461.
20 Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
21 A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol Genet Metab. 2008 Sep-Oct;95(1-2):74-80. doi: 10.1016/j.ymgme.2008.06.005. Epub 2008 Aug 3.
22 Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. Pediatr Cardiol. 2019 Jun;40(5):950-957. doi: 10.1007/s00246-019-02096-1. Epub 2019 Apr 16.
23 Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. Biochem Biophys Res Commun. 2007 May 25;357(1):162-7. doi: 10.1016/j.bbrc.2007.03.128. Epub 2007 Mar 30.
24 Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov;60(5):597-602. doi: 10.1002/ana.20973.
25 Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052. Epub 2011 Sep 30.
26 HAND2 loss-of-function mutation causes familial dilated cardiomyopathy. Eur J Med Genet. 2019 Sep;62(9):103540. doi: 10.1016/j.ejmg.2018.09.007. Epub 2018 Sep 12.
27 Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation. 2007 Jul 31;116(5):515-25. doi: 10.1161/CIRCULATIONAHA.107.689984. Epub 2007 Jul 23.
28 Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. doi: 10.1016/j.jacc.2003.10.021.
29 Lamin A/C mutations in dilated cardiomyopathy. Cardiol J. 2014;21(4):331-42. doi: 10.5603/CJ.a2014.0037. Epub 2014 May 20.
30 Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9. doi: 10.1161/CIRCULATIONAHA.104.507699.
31 Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008 Jan;77(1):118-25. doi: 10.1093/cvr/cvm015. Epub 2007 Sep 19.
32 Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1.
33 Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.
34 Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013 Jul 11;93(1):67-77. doi: 10.1016/j.ajhg.2013.05.015. Epub 2013 Jun 13.
35 Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. doi: 10.1016/j.jacc.2009.05.038.
36 Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet. 2010 Oct;18(10):1160-5. doi: 10.1038/ejhg.2010.83. Epub 2010 Jun 16.
37 Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000 Sep;106(5):655-62. doi: 10.1172/JCI9224.
38 Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. Hum Mol Genet. 2017 Aug 1;26(15):2874-2881. doi: 10.1093/hmg/ddx169.
39 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol. 2004 Dec 7;44(11):2192-201. doi: 10.1016/j.jacc.2004.08.058.
40 Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat. 2005 Dec;26(6):566-74. doi: 10.1002/humu.20250.
41 Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol. 2001 Apr;33(4):723-32. doi: 10.1006/jmcc.2000.1339.
42 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002 Feb;30(2):201-4. doi: 10.1038/ng815. Epub 2002 Jan 14.