Details of Disease

Disease Name

Familial hypertrophic cardiomyopathy

hypertrophic familial cardiomyopathy; cardiomyopathy, familial hypertrophic; familila or idiopathic hypertrophic obstructive cardiomyopathy; hereditary hypertrophic cardiomyopathy; familial hypertrophic cardiomyopathy

Definition

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.

Disease Hierarchy

DISQG2AI: Hypertrophic cardiomyopathy

DISBA1TN: Familial cardiomyopathy

DISQ89HN: Familial hypertrophic cardiomyopathy

Disease Identifiers

MONDO ID

MONDO_0024573

MESH ID

D024741

UMLS CUI

C0949658

MedGen ID

183649

Orphanet ID

155

SNOMED CT ID

83978005

General Information of Disease (ID: DISQ89HN)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLN	TTMCVJF	Limited	Genetic Variation	[1]
LAMP2	TTULDG7	moderate	Genetic Variation	[2]
ADM	TTV14YH	Strong	Biomarker	[3]
CAPN2	TTG5QB7	Strong	Biomarker	[4]
CASP3	TTPF2QI	Strong	Biomarker	[5]
CD36	TTPJMCU	Strong	Biomarker	[6]
EDN1	TTJR60Z	Strong	Biomarker	[7]
ICAM1	TTA1L39	Strong	Biomarker	[8]
MYH2	TTBIL13	Strong	Genetic Variation	[9]
TNNC1	TT8RDXP	Strong	Genetic Variation	[10]
MYBPC3	TT9WOBN	Definitive	Biomarker	[11]
TNNI3	TTNLDK6	Definitive	CausalMutation	[12]
TNNT2	TTWAS18	Definitive	Altered Expression	[13]
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⏷ Show the Full List of 13 DTT(s)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Genetic Variation	[14]
NMNAT2	DE2HB58	Strong	Biomarker	[15]
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This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTN2	OT9FOLD7	Limited	Genetic Variation	[16]
PRKAG2	OTHTAM54	Limited	Genetic Variation	[17]
FLNC	OT3F8J6Y	moderate	Genetic Variation	[18]
MYH6	OT3YNCH1	moderate	Genetic Variation	[19]
MYL2	OT78PC0C	moderate	Genetic Variation	[20]
ACTC1	OTJU04B1	Strong	Genetic Variation	[21]
CALU	OTSYQN71	Strong	Altered Expression	[22]
CAV3	OTWSFDB4	Strong	Genetic Variation	[23]
EMC3	OTY2H39E	Strong	Genetic Variation	[24]
IMMT	OTBDSLE7	Strong	Biomarker	[25]
ITGA9	OTHN1IKA	Strong	Genetic Variation	[20]
JPH2	OTL9YH7V	Strong	ModifyingMutation	[26]
MAML3	OTZFV53Z	Strong	Genetic Variation	[27]
MEOX1	OTJEMT2D	Strong	Biomarker	[28]
MYBPC2	OTCXSB6A	Strong	Genetic Variation	[29]
MYL12B	OTXMLQOT	Strong	Genetic Variation	[20]
MYL3	OTKD3RSX	Strong	CausalMutation	[30]
MYL9	OT6B22JB	Strong	Posttranslational Modification	[20]
MYOZ2	OTMEIQJA	Strong	Biomarker	[31]
NPPA	OTMQNTNX	Strong	Biomarker	[4]
PRH1	OTQZ6HX0	Strong	Genetic Variation	[32]
TPM1	OTD73X6R	Strong	CausalMutation	[30]
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⏷ Show the Full List of 22 DOT(s)

References

1	Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.Biochem Biophys Res Commun. 2003 Apr 25;304(1):1-4. doi: 10.1016/s0006-291x(03)00526-6.
2	A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.Mol Genet Genomic Med. 2019 Oct;7(10):e00941. doi: 10.1002/mgg3.941. Epub 2019 Aug 28.
3	Changes in expression of adrenomedullin in the myocardium of streptozotocin-induced diabetic rats.Chin Med J (Engl). 2007 Feb 5;120(3):187-91.
4	Nuclear Translocation of Calpain-2 Mediates Apoptosis of Hypertrophied Cardiomyocytes in Transverse Aortic Constriction Rat.J Cell Physiol. 2015 Nov;230(11):2743-54. doi: 10.1002/jcp.24999.
5	Forkhead class O transcription factor 3a activation and Sirtuin1 overexpression in the hypertrophied myocardium of the diabetic Goto-Kakizaki rat.J Hypertens. 2008 Feb;26(2):334-44. doi: 10.1097/HJH.0b013e3282f293c8.
6	Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy.J Mol Med (Berl). 2009 Apr;87(4):411-22. doi: 10.1007/s00109-008-0436-x. Epub 2009 Feb 3.
7	Total triterpene acids, active ingredients from Fructus Corni, attenuate diabetic cardiomyopathy by normalizing ET pathway and expression of FKBP12.6 and SERCA2a in streptozotocin-rats.J Pharm Pharmacol. 2008 Dec;60(12):1687-94. doi: 10.1211/jpp/60.12.0016.
8	The protective effect of thalidomide on left ventricular function in a rat model of diabetic cardiomyopathy.Eur J Heart Fail. 2010 Oct;12(10):1051-60. doi: 10.1093/eurjhf/hfq103. Epub 2010 Jul 2.
9	Biological, biochemical, and kinetic effects of mutations of the cardiomyopathy loop of Dictyostelium myosin II: importance of ALA400.J Biol Chem. 2005 Jul 22;280(29):26974-83. doi: 10.1074/jbc.M504453200. Epub 2005 May 16.
10	The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.J Mol Cell Cardiol. 2015 Oct;87:257-69. doi: 10.1016/j.yjmcc.2015.08.017. Epub 2015 Sep 1.
11	Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy.Pflugers Arch. 2019 May;471(5):781-793. doi: 10.1007/s00424-018-2226-9. Epub 2018 Nov 20.
12	Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.Circ Cardiovasc Genet. 2017 Apr;10(2):e001584. doi: 10.1161/CIRCGENETICS.116.001584.
13	Alterations of tension-dependent ATP utilization in a transgenic rat model of hypertrophic cardiomyopathy.J Biol Chem. 2006 Oct 6;281(40):29575-82. doi: 10.1074/jbc.M507740200. Epub 2006 Aug 1.
14	Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.Hum Mutat. 2002 Mar;19(3):309-10. doi: 10.1002/humu.9019.
15	Nmnat2 protects cardiomyocytes from hypertrophy via activation of SIRT6.FEBS Lett. 2012 Mar 23;586(6):866-74. doi: 10.1016/j.febslet.2012.02.014. Epub 2012 Feb 20.
16	Novel -actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30.
17	Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.J Mol Cell Cardiol. 2003 Oct;35(10):1251-5. doi: 10.1016/s0022-2828(03)00237-2.
18	Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun. 2014 Oct 29;5:5326. doi: 10.1038/ncomms6326.
19	Early remodeling of repolarizing K(+) currents in the MHC(403/+) mouse model of familial hypertrophic cardiomyopathy.J Mol Cell Cardiol. 2017 Feb;103:93-101. doi: 10.1016/j.yjmcc.2017.01.006. Epub 2017 Jan 13.
20	Therapeutic potential of AAV9-S15D-RLC gene delivery in humanized MYL2 mouse model of HCM.J Mol Med (Berl). 2019 Jul;97(7):1033-1047. doi: 10.1007/s00109-019-01791-z. Epub 2019 May 17.
21	Novel -Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.J Am Heart Assoc. 2018 Feb 10;7(4):e008068. doi: 10.1161/JAHA.117.008068.
22	Profiling of healthy and asthmatic airway smooth muscle cells following interleukin-1 treatment: a novel role for CCL20 in chronic mucus hypersecretion.Eur Respir J. 2018 Aug 9;52(2):1800310. doi: 10.1183/13993003.00310-2018. Print 2018 Aug.
23	Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2004 Jan 2;313(1):178-84. doi: 10.1016/j.bbrc.2003.11.101.
24	Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice.Nat Med. 2003 Dec;9(12):1477-83. doi: 10.1038/nm955. Epub 2003 Nov 2.
25	Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy.Arch Biochem Biophys. 2017 Feb 1;615:53-60. doi: 10.1016/j.abb.2016.12.007. Epub 2017 Jan 11.
26	T-tubule remodeling during transition from hypertrophy to heart failure.Circ Res. 2010 Aug 20;107(4):520-31. doi: 10.1161/CIRCRESAHA.109.212324. Epub 2010 Jun 24.
27	Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.Eur Respir J. 2015 Jan;45(1):60-75. doi: 10.1183/09031936.00093314. Epub 2014 Sep 18.
28	Meox1 accelerates myocardial hypertrophic decompensation through Gata4.Cardiovasc Res. 2018 Feb 1;114(2):300-311. doi: 10.1093/cvr/cvx222.
29	Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.Heart. 2002 Aug;88(2):153-7. doi: 10.1136/heart.88.2.153.
30	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.
31	Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.Med Sci Monit. 2008 Jul;14(7):CR372-4.
32	Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.J Mol Biol. 1999 Feb 26;286(3):933-49. doi: 10.1006/jmbi.1998.2522.