HCM
MCID: FML032
MIFTS: 69

Familial Hypertrophic Cardiomyopathy (HCM) malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Familial Hypertrophic Cardiomyopathy

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

MalaCards: Familial Hypertrophic Cardiomyopathy, also known as idiopathic hypertrophic subaortic stenosis, is related to hypertrophic cardiomyopathy and myocarditis. An important gene associated with Familial Hypertrophic Cardiomyopathy is CAV3 (caveolin 3), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and Tight junction. The compounds bts and n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are mortality/aging and muscle.

Description from OMIM:46 612124, 613874, 613765, 600858, 613875 613251, 613255, 115197, 608758, 613838, 192600, 608751, 115196, 612098, 613876, 115195, 613243, 613690, 613873 more

Aliases & Classifications for Familial Hypertrophic Cardiomyopathy

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 60UMLS, 39NCIt, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

familial hypertrophic cardiomyopathy 8 42 21 10
idiopathic hypertrophic subaortic stenosis 42 21 60
cardiomyopathy familial hypertrophic 42 20
hereditary ventricular hypertrophy 42 21
asymmetric septal hypertrophy 42 60
cardiomyopathy, hypertrophic, familial 60
familial asymmetric septal hypertrophy 21
cardiomyopathy, familial hypertrophic 46
hcm 21


Related Diseases for Familial Hypertrophic Cardiomyopathy

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17GeneCards, 18GeneDecks
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Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 15 Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Familial Hypertrophic, 11 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 19 Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Familial Hypertrophic 17 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Familial Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy32.0MYH7, MYBPC3
2myocarditis30.7MYH6, TNNI3, TNNT2
3dilated cardiomyopathy30.6TCAP, SLC25A4, PLN, TTN, MYH7, MYBPC3
4myocardial infarction30.5TNNT2, TNNI3, MYL3
5diastolic heart failure30.1TTN
6noonan syndrome30.1ACTC1, TCAP, SLC25A4, PLN, TTN, MYH7
7discrete subaortic stenosis10.5
8angiodysplasia10.5
9acute myocarditis10.4
10septal myocardial infarction10.4
11hypertension10.4
12chagas disease10.3
13dextrocardia10.3
14endomyocardial fibrosis10.3
15tetralogy of fallot10.3
16subacute bacterial endocarditis10.3
17dumping syndrome10.3
18endocarditis10.3
19subvalvular aortic stenosis10.3
20wolff-parkinson-white syndrome10.2
21familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related10.2
22myh7-related familial hypertrophic cardiomyopathy10.2
23tnnt2-related familial hypertrophic cardiomyopathy10.2
24tpm1-related familial hypertrophic cardiomyopathy10.2
25mybpc3-related familial hypertrophic cardiomyopathy10.2
26tnni3-related familial hypertrophic cardiomyopathy10.2
27myl3-related familial hypertrophic cardiomyopathy10.2
28myl2-related familial hypertrophic cardiomyopathy10.2
29ttn-related familial hypertrophic cardiomyopathy10.2
30actc1-related familial hypertrophic cardiomyopathy10.2
31myh6-related familial hypertrophic cardiomyopathy10.2
32tcap-related familial hypertrophic cardiomyopathy10.2
33csrp3-related familial hypertrophic cardiomyopathy10.2
34tnnc1-related familial hypertrophic cardiomyopathy10.2
35actn2-related familial hypertrophic cardiomyopathy10.2
36myoz2-related familial hypertrophic cardiomyopathy10.2
37nexn-related familial hypertrophic cardiomyopathy10.2
38pln-related familial hypertrophic cardiomyopathy10.2
39cardiomyopathy, familial hypertrophic, 2010.2
40cardiomyopathy, familial hypertrophic, 210.2
41cardiomyopathy, familial hypertrophic, 910.2
42cardiomyopathy, familial hypertrophic, 1310.2
43cardiomyopathy, familial hypertrophic, 810.2
44cardiomyopathy, familial hypertrophic, 1610.2
45cardiomyopathy, familial hypertrophic, 1810.2
46cardiomyopathy, familial hypertrophic, 2110.2
47cardiomyopathy, familial hypertrophic 610.2
48cardiomyopathy, familial hypertrophic, 1510.2
49cardiomyopathy, familial hypertrophic, 1210.2
50cardiomyopathy, familial hypertrophic, 410.2

Graphical network of the top 20 diseases related to Familial Hypertrophic Cardiomyopathy:



Diseases related to familial hypertrophic cardiomyopathy

Clinical Features for Familial Hypertrophic Cardiomyopathy

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46OMIM
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Clinical features from OMIM:

612124, 613874, 613765, 600858, 613875, 613251, 613255, 115197, 608758, 613838 192600, 608751, 115196, 612098, 613876, 115195, 613243, 613690, 613873 more

Clinical synopsis from OMIM:

192600

Drugs & Therapeutics for Familial Hypertrophic Cardiomyopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Hypertrophic Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Familial Hypertrophic Cardiomyopathy

Search NIH Clinical Center for Familial Hypertrophic Cardiomyopathy

Search CenterWatch for Familial Hypertrophic Cardiomyopathy

Genetic Tests for Familial Hypertrophic Cardiomyopathy

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20GeneTests
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Genetic tests related to Familial Hypertrophic Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy20 TTN

Anatomical Context for Familial Hypertrophic Cardiomyopathy

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32MalaCards
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MalaCards organs/tissues related to Familial Hypertrophic Cardiomyopathy:

32
Heart, Testes, Brain, Smooth muscle, Skeletal muscle, Skin

Animal Models for Familial Hypertrophic Cardiomyopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Hypertrophic Cardiomyopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.6TNNT2, TNNI3, MYL2, MYOZ2, MYH6, TTN
2MP:00053699.3ACTC1, CAV3, CSRP3, TNNT2, TNNI3, MYL2
3MP:00053859.2MYOZ2, MYL2, TNNI3, TNNT2, CSRP3, CAV3
4MP:00053769.2CAV3, CSRP3, TNNT2, MYL2, MYOZ2, MYH6

Publications for Familial Hypertrophic Cardiomyopathy

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50PubMed
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Articles related to Familial Hypertrophic Cardiomyopathy:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
Primary prevention of sudden cardiac death in a low-risk child with familial hypertrophic cardiomyopathy: the role of cardiac magnetic resonance imaging. (24170035)
2014
2
Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput? (23704214)
2013
3
Reversible heart failure with left ventricular dysfunction in a postpartum woman with familial hypertrophic cardiomyopathy. (23841251)
2013
4
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. (23674513)
2013
5
Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy. (24322056)
2013
6
Unequal allelic expression of wild-type and mutated I^-myosin in familial hypertrophic cardiomyopathy. (21769673)
2011
7
Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3. (21088121)
2010
8
Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy. (21165360)
2010
9
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy. (19406073)
2009
10
Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same family. (19317295)
2009
11
Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice. (18987303)
2009
12
Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice. (19150977)
2009
13
Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (19057086)
2009
14
Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes. (18063575)
2008
15
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. (18565996)
2008
16
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. (18175163)
2008
17
The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy]. (19134269)
2008
18
Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis. (17416600)
2007
19
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. (15698845)
2005
20
Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy. (16137545)
2005
21
A mouse model of familial hypertrophic cardiomyopathy caused by a alpha-tropomyosin mutation. (14575301)
2003
22
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. (12642359)
2003
23
A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood. (12423715)
2002
24
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (11303515)
2001
25
Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. (11113119)
2001
26
Phenotypic variation of familial hypertrophic cardiomyopathy caused by the Phe(110)-->Ile mutation in cardiac troponin T. (10965086)
2000
27
N232S, G741R and D778G beta-cardiac myosin mutants, implicated in familial hypertrophic cardiomyopathy, do not disrupt myofibrillar organisation in cultured myotubes. (11196015)
2000
28
Enhanced myosin function due to a point mutation causing a familial hypertrophic cardiomyopathy. (10764403)
2000
29
Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. (10329202)
1999
30
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. (10529204)
1999
31
Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease. (10377082)
1999
32
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. (9503187)
1998
33
The diagnosis of familial hypertrophic cardiomyopathy in children. (9792250)
1998
34
Familial hypertrophic cardiomyopathy: man, mouse and cat. (10024943)
1998
35
Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy. (9326994)
1997
36
Molecular mechanisms regulating the myofilament response to Ca2+: implications of mutations causal for familial hypertrophic cardiomyopathy. (9202846)
1997
37
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. (9048664)
1997
38
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. (8655135)
1996
39
Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. (8981935)
1996
40
A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy. (8944596)
1996
41
Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations. (7662452)
1995
42
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. (7848441)
1994
43
Familial Hypertrophic Cardiomyopathy Overview (20301725)
1993
44
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. (8435239)
1993
45
Coexistence of sudden cardiac death and end-stage heart failure in familial hypertrophic cardiomyopathy. (8335819)
1993
46
Genetics of familial hypertrophic cardiomyopathy Results and strategies. (21244936)
1993
47
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. (1944483)
1991
48
A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. (1975475)
1990
49
Thallium perfusion and cardiac enzyme abnormalities in patients with familial hypertrophic cardiomyopathy. (4039883)
1985
50
An advanced form of familial hypertrophic cardiomyopathy showing massive myocardial fibrosis with intramural small arterial thickening. An autopsy case. (4087379)
1985

Genetic Variations for Familial Hypertrophic Cardiomyopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Hypertrophic Cardiomyopathy:

62 (show all 172)
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr64SerVAR_029543
2MYH7p.Ala26ValVAR_004566rs186964570
3MYH7p.Val59IleVAR_004567
4MYH7p.Arg143GlnVAR_004568
5MYH7p.Arg249GlnVAR_004569rs3218713
6MYH7p.Gly256GluVAR_004570
7MYH7p.Ile263ThrVAR_004571
8MYH7p.Met349ThrVAR_004572
9MYH7p.Arg403LeuVAR_004573
10MYH7p.Arg403GlnVAR_004574
11MYH7p.Arg403TrpVAR_004575rs3218714
12MYH7p.Arg453CysVAR_004576
13MYH7p.Phe513CysVAR_004577
14MYH7p.Gly584ArgVAR_004578
15MYH7p.Asp587ValVAR_004579
16MYH7p.Asn602SerVAR_004580
17MYH7p.Val606MetVAR_004581
18MYH7p.Lys615AsnVAR_004582
19MYH7p.Gly716ArgVAR_004583
20MYH7p.Arg719TrpVAR_004584
21MYH7p.Arg723CysVAR_004585
22MYH7p.Pro731LeuVAR_004586
23MYH7p.Ile736MetVAR_004587
24MYH7p.Gly741ArgVAR_004588
25MYH7p.Gly741TrpVAR_004589
26MYH7p.Asp778GlyVAR_004590
27MYH7p.Ala797ThrVAR_004591rs3218716
28MYH7p.Arg870HisVAR_004592rs36211715
29MYH7p.Leu908ValVAR_004593
30MYH7p.Glu924LysVAR_004594
31MYH7p.Glu930LysVAR_004595
32MYH7p.Glu935LysVAR_004597
33MYH7p.Glu949LysVAR_004598
34MYH7p.Glu743AspVAR_014199
35MYH7p.Arg719GlnVAR_017749
36MYH7p.Ala728ValVAR_017750
37MYH7p.Val39MetVAR_019845
38MYH7p.Thr188AsnVAR_019846
39MYH7p.Arg204HisVAR_019847
40MYH7p.Asn232SerVAR_019848
41MYH7p.Ala355ThrVAR_019849
42MYH7p.Ala428ValVAR_019850
43MYH7p.Ile443ThrVAR_019851
44MYH7p.Asn479SerVAR_019852
45MYH7p.Glu483LysVAR_019853
46MYH7p.Met659IleVAR_019854
47MYH7p.Arg663HisVAR_019855
48MYH7p.Arg663SerVAR_019856
49MYH7p.Arg671CysVAR_019857
50MYH7p.Gly733GluVAR_019858
51MYH7p.Gly768ArgVAR_019859
52MYH7p.Asp778GluVAR_019860
53MYH7p.Arg787HisVAR_019861
54MYH7p.Met852ThrVAR_019862
55MYH7p.Arg869GlyVAR_019863
56MYH7p.Leu1135ArgVAR_019865
57MYH7p.Glu1218GlnVAR_019866
58MYH7p.Thr1377MetVAR_019867
59MYH7p.Ala1379ThrVAR_019868
60MYH7p.Arg1382TrpVAR_019869
61MYH7p.Ala1777ThrVAR_019871
62MYH7p.Thr124IleVAR_020797
63MYH7p.Tyr162CysVAR_020798
64MYH7p.Asn187LysVAR_020799
65MYH7p.Arg190ThrVAR_020800
66MYH7p.Gln222LysVAR_020801
67MYH7p.Phe244LeuVAR_020802
68MYH7p.Val320MetVAR_020803
69MYH7p.Leu390ValVAR_020804
70MYH7p.Val406MetVAR_020805
71MYH7p.Glu499LysVAR_020806rs3218715
72MYH7p.Gln595ArgVAR_020807
73MYH7p.Leu601ValVAR_020808
74MYH7p.Arg694CysVAR_020809
75MYH7p.Asn696SerVAR_020810
76MYH7p.Arg712LeuVAR_020811
77MYH7p.Arg723GlyVAR_020812
78MYH7p.Ser782AsnVAR_020813
79MYH7p.Glu846GlnVAR_020814
80MYH7p.Arg869CysVAR_020815
81MYH7p.Arg870CysVAR_020816rs36211715
82MYH7p.Met877LysVAR_020817
83MYH7p.Glu1555LysVAR_020820
84MYH7p.Ser1776GlyVAR_020821
85MYH7p.Arg143TrpVAR_029431
86MYH7p.Val411IleVAR_029432
87MYH7p.Ala430GluVAR_029433
88MYH7p.Leu517MetVAR_029435
89MYH7p.Gly584SerVAR_029436
90MYH7p.Arg694HisVAR_029437
91MYH7p.Gln734GluVAR_029438
92MYH7p.Ile736ThrVAR_029439
93MYH7p.Leu796PheVAR_029440
94MYH7p.Val824IleVAR_029441
95MYH7p.Cys905PheVAR_029442
96MYH7p.Glu924GlnVAR_029443
97MYH7p.Asp928AsnVAR_029444
98MYH7p.Met515ValVAR_039562
99MYH7p.Arg858CysVAR_039563
100MYH7p.Tyr115HisVAR_042762
101MYH7p.Arg143GlyVAR_042763
102MYH7p.Lys146AsnVAR_042764
103MYH7p.Ser148IleVAR_042765
104MYH7p.Val186LeuVAR_042766
105MYH7p.Ala196ThrVAR_042767
106MYH7p.Lys207GlnVAR_042769
107MYH7p.Pro211LeuVAR_042770
108MYH7p.Leu227ValVAR_042771
109MYH7p.Ile263MetVAR_042772
110MYH7p.Phe312CysVAR_042773
111MYH7p.Glu328GlyVAR_042774
112MYH7p.Lys351GluVAR_042775
113MYH7p.Lys383AsnVAR_042776
114MYH7p.Ala385ValVAR_042777
115MYH7p.Val404LeuVAR_042778
116MYH7p.Val404MetVAR_042779
117MYH7p.Gly407ValVAR_042780
118MYH7p.Gly425ArgVAR_042782
119MYH7p.Met435ThrVAR_042783
120MYH7p.Val440MetVAR_042784
121MYH7p.Lys450GluVAR_042786
122MYH7p.Lys450ThrVAR_042787
123MYH7p.Arg453HisVAR_042788
124MYH7p.Glu500AlaVAR_042789
125MYH7p.Tyr501CysVAR_042790
126MYH7p.Ile511PheVAR_042791
127MYH7p.Ile511ThrVAR_042792
128MYH7p.Met515ArgVAR_042793
129MYH7p.Gly571ArgVAR_042795
130MYH7p.His576ArgVAR_042796
131MYH7p.Lys615GlnVAR_042797
132MYH7p.Arg663CysVAR_042798
133MYH7p.Val698AlaVAR_042799
134MYH7p.Gln734ProVAR_042800
135MYH7p.Ala742GluVAR_042801
136MYH7p.Val763GlyVAR_042802
137MYH7p.Glu774ValVAR_042803
138MYH7p.Asp778ValVAR_042804
139MYH7p.Met822LeuVAR_042805
140MYH7p.Met822ThrVAR_042806
141MYH7p.Gly823GluVAR_042807
142MYH7p.Arg858HisVAR_042809rs2856897
143MYH7p.Arg869HisVAR_042810rs202141173
144MYH7p.Gln882GluVAR_042811
145MYH7p.Glu894GlyVAR_042812
146MYH7p.Ala901GlyVAR_042813
147MYH7p.Asp906GlyVAR_042814
148MYH7p.Glu921LysVAR_042815
149MYH7p.Glu927LysVAR_042816
150MYH7p.Glu931LysVAR_042817
151MYH7p.Asp953HisVAR_042818
152MYH7p.Gly1057AspVAR_042820
153MYH7p.Gly1057SerVAR_042821
154MYH7p.Asn1327LysVAR_042823
155MYH7p.Glu1356LysVAR_042824
156MYH7p.Arg1420TrpVAR_042825
157MYH7p.Ala1454ThrVAR_042827
158MYH7p.Lys1459AsnVAR_042828
159MYH7p.Thr1513SerVAR_042830
160MYH7p.Arg1712TrpVAR_042834
161MYH7p.Glu1753LysVAR_042836
162MYH7p.Glu1768LysVAR_042837
163MYH7p.Thr1854MetVAR_042838
164MYH7p.Glu1883LysVAR_042839
165MYH7p.Thr1929MetVAR_042842
166MYH7p.Val763MetVAR_045926
167MYH7p.Arg787CysVAR_045927
168MYH7p.Leu1414MetVAR_045928
169MYLK2p.Ala87ValVAR_014197rs121908107
170MYLK2p.Ala95GluVAR_014198rs121908108
171TCAPp.Thr137IleVAR_029447
172TCAPp.Arg153HisVAR_029448

Expression for genes affiliated with Familial Hypertrophic Cardiomyopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Familial Hypertrophic Cardiomyopathy.

Pathways for genes affiliated with Familial Hypertrophic Cardiomyopathy

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Sources:
51QIAGEN, 29KEGG, 4Cell Signaling Technology, 12EMD Millipore, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3MYH7, MYL2
210.2MYH7, MYH6, MYL2
310.2TPM1, ACTC1, TNNI3, TNNT2
4
Hide members
10.1MYL2, MYL3, MYH6, MYH7
5
Hide members
10.1MYL2, MYL3, MYH6, MYH7
6
Hide members
10.1MYL2, MYL3, MYH6, MYH7
7
Hide members
10.1MYL2, MYL3, MYH6, MYH7
810.1MYH7, MYH6, MYL3, MYL2
9
Hide members
10.1TNNT2, TNNI3, TNNC1, PLN
10
Hide members
10.1MYL2, MYLK2, PLN, ACTC1
1110.1SLC25A4, PLN, MYLK2, TNNC1
12
Immune response CCR3 signaling in eosinophils
Hide members
10.1MYL2, MYLK2, MYL3, MYH6, MYH7
1310.1TNNT2, TNNI3, MYL2, MYH6, ACTC1
14
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
10.0MYL2, MYLK2, MYL3, MYH6, MYH7, ACTC1
159.7TNNT2, TPM1, ACTC1, MYH7, MYH6, MYL3
16
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9.6MYH6, MYL3, MYL2, TNNC1, TNNI3, TNNT2
17
Hide members
9.5TPM1, ACTC1, PLN, TTN, MYH7, MYBPC3

Compounds for genes affiliated with Familial Hypertrophic Cardiomyopathy

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1bts5910.3MYH6, MYL3, MYL2, MYH7
2n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide44 1111.3TNNC1, TNNI3
3actomyosin4410.3TNNC1, MYLK2, MYH7, TTN, ACTC1
4(r)-(+)-blebbistatin5910.3MYH7, MYH6, MYL3, MYL2
5(s)-(-)-blebbistatin5910.2MYL2, MYH7, MYH6, MYL3
6(+-)-blebbistatin5910.2MYH7, MYH6, MYL3, MYL2
7glycogen44 2411.2ACTC1, TTN, TNNT2, CAV3
8ryanodine44 28 5912.2MYH6, MYH7, TTN
9creatinine4410.0CAV3, TNNT2, TNNI3, MYOZ2, MYL3, MYH7
10atp44 2810.7MYLK2, MYH6, MYBPC3, MYH7, TTN, SLC25A4
11calcium44 49 11 2412.4TPM1, CALR3, CAV3, TNNT2, TNNI3, TNNC1

GO Terms for genes affiliated with Familial Hypertrophic Cardiomyopathy

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Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:00586110.5TNNT2, TNNI3, TNNC1
2striated muscle thin filamentGO:00586510.4TNNT2, TTN
3muscle myosin complexGO:00585910.4MYL3, MYH6, MYH7
4myosin complexGO:01645910.4MYH7, MYH6, MYL2
5I bandGO:03167410.4ACTC1, TCAP, TTN, MYL3
6stress fiberGO:00172510.4TPM1, MYH7, MYH6
7A bandGO:03167210.4MYBPC3, MYL3
8myosin filamentGO:03298210.3MYH7, MYH6
9myofibrilGO:03001610.3MYH6, MYL2
10Z discGO:03001810.1CAV3, CSRP3, NEXN, MYOZ2, MYH6, MYH7
11vesicleGO:03198210.0PLN, CAV3
12cytoskeletonGO:00585610.0CSRP3, NEXN, MYL2, TPM1
13sarcomereGO:0300179.8TPM1, TNNT2, TNNI3, MYL2, MYLK2, MYOZ2
14cytosolGO:0058299.8TNNT2, TNNI3, TNNC1, MYL2, MYL3, MYH6

Biological processes related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle thin filament assemblyGO:03024010.6TTN, TCAP, ACTC1
2detection of muscle stretchGO:03599510.6CSRP3, TTN, TCAP
3cardiac muscle fiber developmentGO:04873910.6TCAP, TTN, MYH6
4cardiac muscle tissue morphogenesisGO:05500810.5ACTC1, TCAP, TTN, MYLK2
5adult heart developmentGO:00751210.5MYH6, MYH7, TTN, TCAP
6cardiac muscle hypertrophyGO:00330010.5CSRP3, TTN, TCAP
7regulation of heart rateGO:00202710.5MYH7, MYBPC3, MYH6, CAV3
8negative regulation of ATPase activityGO:03278010.5TNNT2, TNNI3, PLN
9positive regulation of ATPase activityGO:03278110.5TNNT2, MYL3, MYBPC3, TPM1
10regulation of muscle filament slidingGO:03297110.5MYBPC3, MYLK2
11striated muscle contractionGO:00694110.5MYLK2, MYH6, TTN
12regulation of striated muscle contractionGO:00694210.5MYBPC3, MYL3, MYL2
13heart contractionGO:06004710.5TNNI3, MYL2, ACTC1
14regulation of muscle contractionGO:00693710.5TPM1, TNNC1, TNNT2
15skeletal muscle myosin thick filament assemblyGO:03024110.5TCAP, TTN
16regulation of heart contractionGO:00801610.4CAV3, TNNT2, MYH6, PLN, TPM1
17regulation of the force of heart contractionGO:00202610.4PLN, MYH6, MYL3, CSRP3
18cardiac myofibril assemblyGO:05500310.4CSRP3, MYL2, TTN, TCAP, ACTC1
19sarcomerogenesisGO:04876910.4TCAP, TTN
20sarcomere organizationGO:04521410.4TNNT2, MYH6, MYBPC3, TTN, TCAP, TPM1
21ATP catabolic processGO:00620010.4ACTC1, MYH7, MYH6, TNNT2
22muscle contractionGO:00693610.4MYH6, MYH7, TTN, TPM1
23regulation of ATPase activityGO:04346210.3TNNC1, MYH6
24cardiac muscle tissue developmentGO:04873810.3PLN, CSRP3
25atrial cardiac muscle tissue morphogenesisGO:05500910.2MYH6, TNNT2
26ventricular cardiac muscle tissue morphogenesisGO:05501010.1TNNT2, TPM1, MYH7, MYBPC3, MYH6, MYL3
27negative regulation of calcium ion transportGO:05192610.0PLN, CAV3
28cardiac muscle contractionGO:0600489.9MYL3, MYLK2, MYL2, TNNC1, TNNI3, CSRP3
29muscle filament slidingGO:0300499.9TPM1, ACTC1, TCAP, TTN, MYH7, MYBPC3

Molecular functions related to Familial Hypertrophic Cardiomyopathy according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1myosin heavy chain bindingGO:03203610.6MYL2, MYBPC3
2troponin C bindingGO:03017210.6TNNT2, TNNI3
3troponin T bindingGO:03101410.6TNNI3, TNNC1
4actinin bindingGO:04280510.5CSRP3, TTN
5troponin I bindingGO:03101310.5TNNT2, TNNC1
6actin-dependent ATPase activityGO:03089810.5MYH7, MYH6
7telethonin bindingGO:03143310.5CSRP3, MYOZ2, TTN
8titin bindingGO:03143210.5MYBPC3, TCAP
9ATPase activityGO:01688710.5ACTC1, MYH7, MYH6, TNNT2
10calmodulin bindingGO:00551610.4TTN, MYH7, MYH6, MYLK2
11actin filament bindingGO:05101510.4TTN, NEXN, TNNC1
12actin monomer bindingGO:00378510.4MYL3, MYL2
13myosin bindingGO:01702210.3ACTC1, MYBPC3
14actin bindingGO:00377910.2TNNT2, TNNI3, MYOZ2, MYH6, MYBPC3, MYH7
15calcium channel regulator activityGO:00524610.2PLN, CAV3
16microfilament motor activityGO:00014610.0MYH7, MYH6
17calcium ion bindingGO:00550910.0CALR3, TNNC1, MYL2, MYL3, TTN
18structural constituent of muscleGO:00830710.0TPM1, CSRP3, NEXN, MYL2, MYL3, MYH6
19protein bindingGO:0055159.5CAV3, CSRP3, TNNI3, TNNC1, MYL2, MYLK2

Products for genes affiliated with Familial Hypertrophic Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypertrophic Cardiomyopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet