FHI
MCID: FML032
MIFTS: 56

Familial Hypertrophic Cardiomyopathy (FHI) malady

Cardiovascular, Genetic categories

Summaries for Familial Hypertrophic Cardiomyopathy

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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 diastolic heart failure. 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 brain, heart and smooth muscle, and related mouse phenotypes are mortality/aging and muscle.

Description from OMIM:47 612124, 613874, 613765, 600858, 613875 613251, 613255, 115197, 608758, 613838, 192600, 608751, 115196, 612098, 613876, 115195, 613243, 613690, 613873 more

GeneReviews summary for hyper-card

Aliases & Classifications for Familial Hypertrophic Cardiomyopathy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 61UMLS, 40NCIt, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

familial hypertrophic cardiomyopathy 8 19 43 21 10
idiopathic hypertrophic subaortic stenosis 43 21 61
cardiomyopathy familial hypertrophic 43 20
hereditary ventricular hypertrophy 43 21
asymmetric septal hypertrophy 43 61
persistent hyperinsulinemic hypoglycemia of infancy 19
familial asymmetric septal hypertrophy 21
cardiomyopathy, hypertrophic, familial 61
cardiomyopathy, familial hypertrophic 47
phhi 19
hcm 21
fhi 19


Related Diseases for Familial Hypertrophic Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Hypertrophic Cardiomyopathy family:

hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related
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 128)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy32.0MYBPC3, MYH7
2diastolic heart failure30.1TTN
3noonan syndrome30.1CAV3, CSRP3, TNNT2, TNNI3, MYL2, MYOZ2
4hypoglycemia11.3
5hyperinsulinemic hypoglycemia11.3
6discrete subaortic stenosis10.6
7angiodysplasia10.5
8acute myocarditis10.5
9cardiomyopathy, familial hypertrophic, 110.5
10non-familial hypertrophic cardiomyopathy10.4
11glucose intolerance10.4
12insulinoma10.4
13adenoma10.4
14hyperinsulinemic hypoglycemia, familial, 110.4
15somatostatin analog10.4
16septal myocardial infarction10.4
17left ventricular outflow tract obstruction10.4
18cardiomyopathy, familial hypertrophic, 1410.3
19chagas disease10.3
20dextrocardia10.3
21endomyocardial fibrosis10.3
22subacute bacterial endocarditis10.3
23dumping syndrome10.3
24subvalvular aortic stenosis10.3
25fuchs' heterochromic uveitis10.3
26wolff-parkinson-white syndrome10.3
27familial dilated cardiomyopathy10.3
28familial ventricular tachycardia10.3
29familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related10.3
30myh7-related familial hypertrophic cardiomyopathy10.3
31tnnt2-related familial hypertrophic cardiomyopathy10.3
32tpm1-related familial hypertrophic cardiomyopathy10.3
33mybpc3-related familial hypertrophic cardiomyopathy10.3
34tnni3-related familial hypertrophic cardiomyopathy10.3
35myl3-related familial hypertrophic cardiomyopathy10.3
36myl2-related familial hypertrophic cardiomyopathy10.3
37ttn-related familial hypertrophic cardiomyopathy10.3
38actc1-related familial hypertrophic cardiomyopathy10.3
39myh6-related familial hypertrophic cardiomyopathy10.3
40tcap-related familial hypertrophic cardiomyopathy10.3
41csrp3-related familial hypertrophic cardiomyopathy10.3
42tnnc1-related familial hypertrophic cardiomyopathy10.3
43actn2-related familial hypertrophic cardiomyopathy10.3
44myoz2-related familial hypertrophic cardiomyopathy10.3
45nexn-related familial hypertrophic cardiomyopathy10.3
46pln-related familial hypertrophic cardiomyopathy10.3
47cardiomyopathy, familial hypertrophic, 2010.3
48cardiomyopathy, familial hypertrophic, 210.3
49cardiomyopathy, familial hypertrophic, 910.3
50cardiomyopathy, familial hypertrophic, 1310.3

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



Diseases related to familial hypertrophic cardiomyopathy

Clinical Features for Familial Hypertrophic Cardiomyopathy

Sources:
47OMIM
See all sources

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Familial Hypertrophic Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy20 TTN

Anatomical Context for Familial Hypertrophic Cardiomyopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Hypertrophic Cardiomyopathy:

33
Brain, Heart, Smooth muscle, Skeletal muscle, Skin, T cells, Fetal brain

Animal Models for Familial Hypertrophic Cardiomyopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Hypertrophic Cardiomyopathy:

37
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

Sources:
51PubMed
See all sources

Articles related to Familial Hypertrophic Cardiomyopathy:

(show top 50)    (show all 296)
idTitleAuthorsYear
1
Fast diastolic swinging motion of the mitral valve as a clinical marker of familial hypertrophic cardiomyopathy in genetically affected young children without left ventricular hypertrophy: a new role for noninvasive imaging? (23557229)
2013
2
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. (22334656)
2012
3
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. (22794249)
2012
4
Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific. (22907055)
2012
5
A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes. (21409595)
2011
6
Single molecule kinetics in the familial hypertrophic cardiomyopathy D166V mutant mouse heart. (19914255)
2010
7
Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes. (18063575)
2008
8
The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. (18498962)
2008
9
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. (17655857)
2007
10
Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. (16214409)
2006
11
Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy. (16950368)
2006
12
Familial hypertrophic cardiomyopathy--a case report]. (17165166)
2006
13
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. (15858117)
2005
14
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. (14672715)
2004
15
Familial hypertrophic cardiomyopathy complicated by complete atrioventricular block. (15030138)
2004
16
Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review]. (15058760)
2004
17
Effects of protein kinase C dependent phosphorylation and a familial hypertrophic cardiomyopathy-related mutation of cardiac troponin I on structural transition of troponin C and myofilament activation. (15147183)
2004
18
Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population. (12821216)
2003
19
Human heart failure: dilated versus familial hypertrophic cardiomyopathy. (15098656)
2003
20
Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. (12536121)
2002
21
Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C. (12202917)
2002
22
A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice. (11603924)
2001
23
The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. (11377367)
2001
24
N232S, G741R and D778G beta-cardiac myosin mutants, implicated in familial hypertrophic cardiomyopathy, do not disrupt myofibrillar organisation in cultured myotubes. (11196015)
2000
25
Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. (10563488)
1999
26
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. (10529204)
1999
27
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. (10610770)
1999
28
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function (10090775)
1999
29
Animal models of familial hypertrophic cardiomyopathy. (10562721)
1999
30
The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. (10086390)
1999
31
Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury. (9800880)
1998
32
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. (9535554)
1998
33
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
34
Counselling issues in familial hypertrophic cardiomyopathy. (9541100)
1998
35
Molecular genetic studies of familial hypertrophic cardiomyopathy. (9879437)
1998
36
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. (9482583)
1998
37
Fixed subaortic stenosis associated with hypertrophic cardiomyopathy: report of a rare familial occurrence. (9493046)
1998
38
Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy. (9326994)
1997
39
Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication. (9062359)
1997
40
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. (9140839)
1997
41
Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. (8675696)
1996
42
A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy. (8944596)
1996
43
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. (7981753)
1993
44
Structural analysis of cardiac beta myosin heavy chain gene in familial hypertrophic cardiomyopathy]. (8320828)
1993
45
Familial Hypertrophic Cardiomyopathy Overview (20301725)
1993
46
Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. (1735158)
1992
47
Sudden death due to ventricular tachycardia during amiodarone therapy in familial hypertrophic cardiomyopathy. (1927963)
1991
48
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. (1975517)
1990
49
Familial hypertrophic cardiomyopathy with left ventricular dilatation and conduction disturbances. (3414528)
1988
50
Familial hypertrophic cardiomyopathy and preexcitation. (6229172)
1984

Genetic Variations for Familial Hypertrophic Cardiomyopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Hypertrophic Cardiomyopathy:

63 (show all 172)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 4Cell Signaling Technology, 12EMD Millipore, 54Reactome, 38NCBI BioSystems Database
See all sources

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3MYH7, MYL2
210.2MYH6, MYH7, MYL2
310.2TNNI3, TPM1, ACTC1, TNNT2
410.1MYH7, MYH6, MYL3, MYL2
5
Hide members
10.1MYL2, MYL3, MYH6, MYH7
6
Hide members
10.1MYL2, MYL3, MYH6, MYH7
7
Hide members
10.1MYL2, MYL3, MYH6, MYH7
8
Hide members
10.1MYH7, MYL2, MYH6, MYL3
9
Hide members
10.1PLN, TNNC1, TNNI3, TNNT2
10
Hide members
10.1MYLK2, ACTC1, PLN, MYL2
1110.1MYLK2, SLC25A4, TNNC1, PLN
12
Immune response CCR3 signaling in eosinophils
Hide members
10.1MYL3, MYH6, MYH7, MYL2, MYLK2
1310.1ACTC1, MYH6, MYL2, TNNI3, TNNT2
14
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
10.0MYLK2, MYL2, MYL3, MYH6, MYH7, ACTC1
159.7MYL2, MYL3, MYH6, MYH7, ACTC1, TPM1
16
Hide members
9.6TNNT2, TNNC1, MYL2, MYL3, MYH6, MYBPC3
17
Hide members
9.5TPM1, ACTC1, PLN, TTN, MYH7, MYBPC3

Compounds for genes affiliated with Familial Hypertrophic Cardiomyopathy

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

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

(show all 11)
idCompoundScoreTop Affiliating Genes
1bts6010.3MYH6, MYL3, MYL2, MYH7
2n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide45 1111.3TNNC1, TNNI3
3actomyosin4510.3TNNC1, MYLK2, MYH7, TTN, ACTC1
4(r)-(+)-blebbistatin6010.3MYH7, MYH6, MYL3, MYL2
5(s)-(-)-blebbistatin6010.2MYL2, MYH7, MYH6, MYL3
6(+-)-blebbistatin6010.2MYH7, MYH6, MYL3, MYL2
7glycogen45 2411.2ACTC1, TTN, TNNT2, CAV3
8ryanodine45 29 6012.2MYH6, MYH7, TTN
9creatinine4510.0CAV3, TNNT2, TNNI3, MYOZ2, MYL3, MYH7
10atp45 2910.7MYLK2, MYH6, MYBPC3, MYH7, TTN, SLC25A4
11calcium45 50 11 2412.4TPM1, CALR3, CAV3, TNNT2, TNNI3, TNNC1

GO Terms for genes affiliated with Familial Hypertrophic Cardiomyopathy

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypertrophic Cardiomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet