CMH
MCID: CRD086
MIFTS: 66

Cardiomyopathy, Familial Hypertrophic, 1 (CMH)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 58 13 74
Familial Hypertrophic Cardiomyopathy 12 54 26 76 15
Asymmetric Septal Hypertrophy 58 77 76 6 74
Cmh1 58 12 76
Hypertrophic Subaortic Stenosis, Idiopathic 58 76
Cardiomyopathy, Familial Hypertrophic 1 12 76
Familial Hypertrophic Cardiomyopathy 1 30 6
Cardiomyopathy, Hypertrophic, Familial 45 74
Cardiomyopathy, Familial Hypertrophic 58 76
Heritable Hypertrophic Cardiomyopathy 54 26
Ventricular Hypertrophy, Hereditary 58 76
Hypertrophic Cardiomyopathy 1 12 15
Hypertrophic Cardiomyopathy 76 74
Cmh 58 76
Ash 58 76
Hcm 26 76
Cardiomyopathy, Hypertrophic, Familial, Type 1 41
Idiopathic Hypertrophic Subaortic Stenosis 26
Cardiomyopathy, Hypertrophic, 1, Digenic 58
Familial Asymmetric Septal Hypertrophy 26
Cardiomyopathy Familial Hypertrophic 54
Asymmetric Septal Hypertrophy; Ash 58
Hereditary Ventricular Hypertrophy 26
Cardiomyopathy, Hypertrophic, 1 58
Hypertrophic Cardiomyopathy 19 12
Familial Hcm 54
Fhc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
digenic (see miscellaneous)

Miscellaneous:
digenic form caused by heterozygous mutations in the mylk2 and myh7 genes


HPO:

33
cardiomyopathy, familial hypertrophic, 1:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 1

NIH Rare Diseases : 54 Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 1, also known as familial hypertrophic cardiomyopathy, is related to cardiac arrest and left ventricular noncompaction. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are PAK Pathway and Aldosterone synthesis and secretion. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related phenotypes are abnormality of metabolism/homeostasis and arrhythmia

Disease Ontology : 12 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has material basis in autosomal dominant inheritance of one or more gene mutations.

Genetics Home Reference : 26 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.

OMIM : 58 Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. (192600)

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Wikipedia : 77 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Cardiomyopathy, Familial Hypertrophic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 546)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 30.8 MYBPC3 MYH7 TNNT2
2 left ventricular noncompaction 30.6 MYBPC3 MYH6 MYH7 TNNT2 TPM1
3 wolff-parkinson-white syndrome 30.3 MYH7 TNNI3 TNNT1
4 myocardial infarction 30.2 CASP1 CASP3 TNNI3 TNNT1 TNNT2
5 atrial standstill 1 30.1 MYBPC3 MYH6 MYH7 MYL2 TNNI3 TNNT2
6 heart disease 30.0 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
7 hypertrophic cardiomyopathy 29.7 CAV3 MYBPC3 MYH6 MYH7 MYL2 TNNI3
8 restrictive cardiomyopathy 29.6 MYBPC3 MYH7 MYL2 TNNI3 TNNT1 TNNT2
9 dilated cardiomyopathy 29.2 MYBPC3 MYH6 MYH7 MYL2 TNNI3 TNNT1
10 cardiomyopathy, familial hypertrophic, 4 12.6
11 cardiomyopathy, familial hypertrophic, 2 12.6
12 cardiomyopathy, familial hypertrophic, 3 12.6
13 cardiomyopathy, familial hypertrophic, 6 12.6
14 cardiomyopathy, familial hypertrophic, 8 12.6
15 cardiomyopathy, familial hypertrophic, 10 12.6
16 cardiomyopathy, familial hypertrophic, 11 12.6
17 cardiomyopathy, familial hypertrophic, 12 12.6
18 cardiomyopathy, familial hypertrophic, 13 12.6
19 cardiomyopathy, familial hypertrophic, 14 12.6
20 cardiomyopathy, familial hypertrophic, 15 12.6
21 cardiomyopathy, familial hypertrophic, 7 12.6
22 cardiomyopathy, familial hypertrophic, 9 12.6
23 cardiomyopathy, familial hypertrophic, 16 12.6
24 cardiomyopathy, familial hypertrophic, 17 12.6
25 cardiomyopathy, familial hypertrophic, 18 12.6
26 cardiomyopathy, familial hypertrophic, 20 12.6
27 cardiomyopathy, familial hypertrophic, 26 12.6
28 cardiomyopathy, familial hypertrophic, 25 12.5
29 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.3
30 hypertrophic cardiomyopathy due to intensive athletic training 12.3
31 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.3
32 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.2
33 combined oxidative phosphorylation deficiency 10 12.1
34 combined oxidative phosphorylation deficiency 16 12.1
35 deafness, autosomal dominant 22 12.0
36 mitochondrial complex v deficiency, mitochondrial type 1 12.0
37 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 11.9
38 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 11.9
39 cardiomyopathy, dilated, 1kk 11.9
40 cardiomyopathy, infantile hypertrophic 11.9
41 sengers syndrome 11.8
42 glycogen storage disease of heart, lethal congenital 11.8
43 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.8
44 combined oxidative phosphorylation deficiency 17 11.8
45 costello syndrome 11.7
46 hypercholesterolemia, familial 11.7
47 combined oxidative phosphorylation deficiency 9 11.6
48 combined oxidative phosphorylation deficiency 23 11.6
49 combined oxidative phosphorylation deficiency 8 11.6
50 cardiofaciocutaneous syndrome 1 11.6

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 1:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 1

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 1

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 arrhythmia 33 HP:0011675
3 congestive heart failure 33 HP:0001635
4 asymmetric septal hypertrophy 33 HP:0001670
5 subvalvular aortic stenosis 33 HP:0001682

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy
arrhythmia
congestive heart failure
sudden death
subaortic stenosis
more

Clinical features from OMIM:

192600

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CASP1 CASP3 CASP7 ERCC6 FKBP5 GZMB
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP1 CASP3 CASP7 ERCC6 FKBP5 GZMB

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 BTC CASP1 CASP3 CASP7 CAV3 MYBPC3
2 muscle MP:0005369 9.4 BTC CASP3 CAV3 ERCC6 MYBPC3 MYH6

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

Drugs for Cardiomyopathy, Familial Hypertrophic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin
3 Hormones
4 Mitogens
5 Complement Factor I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
2 Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy Completed NCT01792960
3 Genetic Analysis of Familial Hypertrophic Cardiomyopathy Completed NCT00005251
4 Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts Completed NCT00001878
5 Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers) Active, not recruiting NCT01873976
6 Diagnostic Value of the Electrocardiogram in Fabry Disease Not yet recruiting NCT03362645

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Cochrane evidence based reviews: cardiomyopathy, hypertrophic, familial

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1 30 MYH6

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:

42
Heart, Liver, Kidney, Myeloid, Testes, Bone, Thyroid

Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 349)
# Title Authors Year
1
CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca2+ release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy. ( 29402414 )
2018
2
Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation. ( 29440008 )
2018
3
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy. ( 29524613 )
2018
4
Familial Hypertrophic Cardiomyopathy - Identification of cause and risk stratification through exome sequencing. ( 29572196 )
2018
5
Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene. ( 28694399 )
2017
6
Early remodeling of repolarizing K+ currents in the αMHC403/+ mouse model of familial hypertrophic cardiomyopathy. ( 28089740 )
2017
7
Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology. ( 28214152 )
2017
8
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3. ( 28265379 )
2017
9
Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy. ( 28395744 )
2017
10
JPH2 Mutant Gene Causes Familial Hypertrophic Cardiomyopathy: A Possible Model to Unravel the Subtlety of Calcium-Regulated Contractility. ( 30167555 )
2017
11
A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy. ( 27910300 )
2017
12
Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain. ( 27161882 )
2017
13
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
14
Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants. ( 27840609 )
2016
15
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis. ( 27141495 )
2016
16
Extreme septal hypertrophy in an adolescent with congenital familial hypertrophic cardiomyopathy. ( 26552475 )
2015
17
Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation. ( 26337809 )
2015
18
The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q. ( 26341255 )
2015
19
N-acetylcysteine reverses diastolic dysfunction and hypertrophy in familial hypertrophic cardiomyopathy. ( 26432840 )
2015
20
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
21
Asymmetric left ventricular hypertrophy associated with morbid obesity mimicking familial hypertrophic cardiomyopathy. ( 25630327 )
2014
22
Age-related changes in familial hypertrophic cardiomyopathy phenotype in transgenic mice and humans. ( 25318870 )
2014
23
Impact of familial hypertrophic cardiomyopathy-linked mutations in the NH2 terminus of the RLC on β-myosin cross-bridge mechanics. ( 25324513 )
2014
24
Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development. ( 25346696 )
2014
25
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. ( 25351925 )
2014
26
Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy. ( 24963656 )
2014
27
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). ( 25173338 )
2014
28
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. ( 25173926 )
2014
29
Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. ( 25209314 )
2014
30
Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy. ( 24567073 )
2014
31
Specific RNA inhibition of causal alleles: a potential therapy for familial hypertrophic cardiomyopathy. ( 24577961 )
2014
32
Primary prevention of sudden cardiac death in a low-risk child with familial hypertrophic cardiomyopathy: the role of cardiac magnetic resonance imaging. ( 24170035 )
2014
33
In vitro rescue study of a malignant familial hypertrophic cardiomyopathy phenotype by pseudo-phosphorylation of myosin regulatory light chain. ( 24374283 )
2014
34
Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-terminus of cardiac troponin T: Effects of familial hypertrophic cardiomyopathy mutations cTnI R145G and cTnT R278C, alone and in combination, on filament sliding. ( 24418317 )
2014
35
Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*. ( 24260207 )
2013
36
Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy. ( 23748425 )
2013
37
Microarray analysis of active cardiac remodeling genes in a familial hypertrophic cardiomyopathy mouse model rescued by a phospholamban knockout. ( 23800848 )
2013
38
Reversible heart failure with left ventricular dysfunction in a postpartum woman with familial hypertrophic cardiomyopathy. ( 23841251 )
2013
39
Decreasing tropomyosin phosphorylation rescues tropomyosin-induced familial hypertrophic cardiomyopathy. ( 23960072 )
2013
40
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
41
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. ( 23674513 )
2013
42
Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput? ( 23704214 )
2013
43
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. ( 23290139 )
2013
44
Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes. ( 23318932 )
2013
45
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
46
Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin. ( 22958892 )
2012
47
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy. ( 22735528 )
2012
48
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. ( 22794249 )
2012
49
Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific. ( 22907055 )
2012
50
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

Variations for Cardiomyopathy, Familial Hypertrophic, 1

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

76 (show top 50) (show all 174)
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Thr64Ser VAR_029543 rs121909280
2 MYH7 p.Ala26Val VAR_004566 rs186964570
3 MYH7 p.Val59Ile VAR_004567 rs771132107
4 MYH7 p.Arg143Gln VAR_004568 rs397516209
5 MYH7 p.Arg249Gln VAR_004569 rs3218713
6 MYH7 p.Gly256Glu VAR_004570 rs121913633
7 MYH7 p.Ile263Thr VAR_004571 rs397516269
8 MYH7 p.Met349Thr VAR_004572 rs121913640
9 MYH7 p.Arg403Leu VAR_004573 rs121913624
10 MYH7 p.Arg403Gln VAR_004574 rs121913624
11 MYH7 p.Arg403Trp VAR_004575 rs3218714
12 MYH7 p.Arg453Cys VAR_004576 rs121913625
13 MYH7 p.Phe513Cys VAR_004577 rs121913636
14 MYH7 p.Gly584Arg VAR_004578 rs121913626
15 MYH7 p.Asp587Val VAR_004579
16 MYH7 p.Asn602Ser VAR_004580 rs730880880
17 MYH7 p.Val606Met VAR_004581 rs121913627
18 MYH7 p.Lys615Asn VAR_004582
19 MYH7 p.Gly716Arg VAR_004583 rs121913638
20 MYH7 p.Arg719Trp VAR_004584 rs121913637
21 MYH7 p.Arg723Cys VAR_004585 rs121913630
22 MYH7 p.Pro731Leu VAR_004586
23 MYH7 p.Ile736Met VAR_004587
24 MYH7 p.Gly741Arg VAR_004588 rs121913632
25 MYH7 p.Gly741Trp VAR_004589 rs121913632
26 MYH7 p.Asp778Gly VAR_004590 rs121913634
27 MYH7 p.Ala797Thr VAR_004591 rs3218716
28 MYH7 p.Arg870His VAR_004592 rs36211715
29 MYH7 p.Leu908Val VAR_004593 rs121913631
30 MYH7 p.Glu924Lys VAR_004594 rs121913628
31 MYH7 p.Glu930Lys VAR_004595 rs397516171
32 MYH7 p.Glu935Lys VAR_004597 rs121913639
33 MYH7 p.Glu949Lys VAR_004598 rs121913629
34 MYH7 p.Glu743Asp VAR_014199 rs397516139
35 MYH7 p.Arg719Gln VAR_017749 rs121913641
36 MYH7 p.Ala728Val VAR_017750 rs121913644
37 MYH7 p.Val39Met VAR_019845 rs376160714
38 MYH7 p.Thr188Asn VAR_019846 rs730880844
39 MYH7 p.Arg204His VAR_019847 rs397516260
40 MYH7 p.Asn232Ser VAR_019848
41 MYH7 p.Ala355Thr VAR_019849 rs397516088
42 MYH7 p.Ala428Val VAR_019850 rs727503266
43 MYH7 p.Ile443Thr VAR_019851
44 MYH7 p.Asn479Ser VAR_019852 rs727504236
45 MYH7 p.Glu483Lys VAR_019853 rs121913651
46 MYH7 p.Met659Ile VAR_019854
47 MYH7 p.Arg663His VAR_019855 rs371898076
48 MYH7 p.Arg663Ser VAR_019856
49 MYH7 p.Arg671Cys VAR_019857 rs727503263
50 MYH7 p.Gly733Glu VAR_019858 rs727504241

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

6 (show top 50) (show all 580)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYLK2 NM_033118.3(MYLK2): c.260C> T (p.Ala87Val) single nucleotide variant Uncertain significance rs121908107 GRCh37 Chromosome 20, 30408136: 30408136
2 MYLK2 NM_033118.3(MYLK2): c.260C> T (p.Ala87Val) single nucleotide variant Uncertain significance rs121908107 GRCh38 Chromosome 20, 31820333: 31820333
3 MYLK2 NM_033118.3(MYLK2): c.284C> A (p.Ala95Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908108 GRCh37 Chromosome 20, 30408160: 30408160
4 MYLK2 NM_033118.3(MYLK2): c.284C> A (p.Ala95Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908108 GRCh38 Chromosome 20, 31820357: 31820357
5 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
6 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
7 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
8 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
9 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
10 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
11 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh37 Chromosome 3, 46900985: 46900985
12 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh38 Chromosome 3, 46859495: 46859495
13 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh37 Chromosome 12, 111356964: 111356964
14 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh38 Chromosome 12, 110919160: 110919160
15 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 NCBI36 Chromosome 12, 109841347: 109841347
16 MYH7 NM_000257.4(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
17 MYH7 NM_000257.4(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
18 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
19 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
20 MYH7 NM_000257.4(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
21 MYH7 NM_000257.4(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh38 Chromosome 14, 23429005: 23429005
22 MYH7 NM_000257.4(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh37 Chromosome 14, 23896932: 23896932
23 MYH7 NM_000257.4(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh38 Chromosome 14, 23427723: 23427723
24 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh37 Chromosome 14, 23896866: 23896866
25 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh38 Chromosome 14, 23427657: 23427657
26 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
27 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
28 MYH7 NM_000257.2(MYH7): c.2845G> A (p.Glu949Lys) single nucleotide variant Uncertain significance rs121913629 GRCh37 Chromosome 14, 23893193: 23893193
29 MYH7 NM_000257.2(MYH7): c.2845G> A (p.Glu949Lys) single nucleotide variant Uncertain significance rs121913629 GRCh38 Chromosome 14, 23423984: 23423984
30 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh37 Chromosome 14, 23899076: 23899076
31 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh38 Chromosome 14, 23429867: 23429867
32 MYH7 NM_000257.4(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh37 Chromosome 14, 23895023: 23895023
33 MYH7 NM_000257.4(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh38 Chromosome 14, 23425814: 23425814
34 MYH7 nsv513807 deletion Pathogenic
35 MYH7 NM_000257.4(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh37 Chromosome 14, 23893316: 23893316
36 MYH7 NM_000257.4(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh38 Chromosome 14, 23424107: 23424107
37 MYH7 NM_000257.4(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh37 Chromosome 14, 23894969: 23894969
38 MYH7 NM_000257.4(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh38 Chromosome 14, 23425760: 23425760
39 MYH7 NM_000257.3(MYH7): c.767G> A (p.Gly256Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913633 GRCh37 Chromosome 14, 23900656: 23900656
40 MYH7 NM_000257.3(MYH7): c.767G> A (p.Gly256Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913633 GRCh38 Chromosome 14, 23431447: 23431447
41 MYH7 NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly) single nucleotide variant Pathogenic rs121913634 GRCh37 Chromosome 14, 23894581: 23894581
42 MYH7 NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly) single nucleotide variant Pathogenic rs121913634 GRCh38 Chromosome 14, 23425372: 23425372
43 MYH7 NM_000257.2(MYH7): c.1208G> T (p.Arg403Leu) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
44 MYH7 NM_000257.2(MYH7): c.1208G> T (p.Arg403Leu) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
45 MYH7 NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys) single nucleotide variant Pathogenic rs121913639 GRCh37 Chromosome 14, 23893235: 23893235
46 MYH7 NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys) single nucleotide variant Pathogenic rs121913639 GRCh38 Chromosome 14, 23424026: 23424026
47 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
48 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
49 MYH7 NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys) single nucleotide variant Pathogenic rs121913636 GRCh37 Chromosome 14, 23897749: 23897749
50 MYH7 NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys) single nucleotide variant Pathogenic rs121913636 GRCh38 Chromosome 14, 23428540: 23428540

Expression for Cardiomyopathy, Familial Hypertrophic, 1

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.

Pathways for Cardiomyopathy, Familial Hypertrophic, 1

Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 BTC CASP1 CASP10 CASP3 CASP7 MYH6
2
Show member pathways
12.8 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
3
Show member pathways
12.78 CASP3 CASP7 GZMB MYH6 MYH7
4
Show member pathways
12.73 CASP1 CASP10 CASP3 CASP7 GZMB
5
Show member pathways
12.65 CAV3 MYBPC3 MYH6 MYL2 TNNI3 TNNT1
6
Show member pathways
12.61 CASP1 CASP10 CASP3 CASP7 ERCC6
7
Show member pathways
12.43 BTC CASP1 CASP10 CASP3 CASP7
8
Show member pathways
12.37 CASP1 CASP10 CASP3 CASP7 GZMB
9
Show member pathways
12.25 MYH6 MYH7 MYL2 MYLK2
10
Show member pathways
12.23 CASP10 CASP3 GZMB MYH6 MYH7 MYL2
11 12.16 CASP1 CASP3 CASP7 GZMB
12
Show member pathways
12.15 CASP1 CASP10 CASP3 CASP7
13
Show member pathways
12.09 CASP1 CASP10 CASP3 CASP7 GZMB
14 11.99 CASP1 CASP10 CASP3 CASP7
15
Show member pathways
11.95 MYBPC3 MYH6 MYH7 MYL2 TNNI3 TNNT2
16
Show member pathways
11.92 CASP3 CASP7 GZMB
17
Show member pathways
11.89 CASP1 CASP10 CASP3 CASP7
18 11.86 CASP10 CASP3 CASP7
19
Show member pathways
11.86 CASP1 CASP10 CASP3 CASP7
20 11.84 CASP1 CASP10 CASP3 CASP7
21
Show member pathways
11.72 CASP10 CASP3 CASP7
22 11.67 CASP1 CASP3 CASP7
23 11.5 CASP1 CASP3 CASP7
24
Show member pathways
11.43 CASP3 CASP7 GZMB
25 11.43 MYH6 MYL2 TNNI3 TNNT2
26 11.32 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
27 11.3 CASP10 CASP3 CASP7
28 11.02 MYBPC3 MYH6 MYL2 TNNI3 TNNT1 TNNT2
29 10.99 MYH7 MYL2
30 10.88 CASP10 CASP3 GZMB MYH6 MYH7 MYL2
31 10.78 CASP3 CASP7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.71 CAV3 MYBPC3 MYH6 MYH7
2 stress fiber GO:0001725 9.65 MYH6 MYH7 TPM1
3 myosin complex GO:0016459 9.61 MYH6 MYH7 MYL2
4 striated muscle thin filament GO:0005865 9.54 MYBPC3 TNNT2
5 A band GO:0031672 9.52 MYBPC3 MYL2
6 muscle myosin complex GO:0005859 9.51 MYH6 MYH7
7 myosin filament GO:0032982 9.5 MYBPC3 MYH6 MYH7
8 cardiac myofibril GO:0097512 9.46 MYBPC3 MYL2 TNNI3 TNNT2
9 troponin complex GO:0005861 9.43 TNNI3 TNNT1 TNNT2
10 myofibril GO:0030016 9.43 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
11 cardiac Troponin complex GO:1990584 9.37 TNNI3 TNNT2
12 sarcomere GO:0030017 9.23 MYBPC3 MYH6 MYH7 MYL2 MYLK2 TNNI3
13 cytoplasm GO:0005737 10.34 CASP1 CASP10 CASP3 CASP7 CAV3 FKBP5
14 cytosol GO:0005829 10.27 CASP1 CASP10 CASP3 CASP7 FKBP5 GZMB

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 CASP3 CASP7 MYL2 TNNI3
2 muscle contraction GO:0006936 9.86 CAV3 MYBPC3 MYH6 MYH7 TNNI3 TNNT1
3 regulation of heart contraction GO:0008016 9.78 CAV3 MYH6 TNNT2 TPM1
4 skeletal muscle contraction GO:0003009 9.76 MYH7 TNNI3 TNNT1 TNNT2
5 apoptotic signaling pathway GO:0097190 9.74 CASP1 CASP10 CASP3
6 response to UV GO:0009411 9.73 CASP3 CASP7 ERCC6
7 execution phase of apoptosis GO:0097194 9.73 CASP1 CASP10 CASP3 CASP7
8 sarcomere organization GO:0045214 9.72 MYBPC3 MYH6 TNNT1 TNNT2 TPM1
9 positive regulation of ATPase activity GO:0032781 9.71 MYBPC3 TNNT2 TPM1
10 regulation of muscle contraction GO:0006937 9.71 TNNI3 TNNT1 TNNT2 TPM1
11 regulation of heart rate GO:0002027 9.7 CAV3 MYH6 MYH7
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 MYBPC3 MYH6 MYH7 MYL2 TNNI3 TNNT2
13 regulation of the force of heart contraction GO:0002026 9.67 MYH6 MYH7 MYL2
14 striated muscle contraction GO:0006941 9.67 MYH6 MYH7 MYLK2 TNNI3
15 response to X-ray GO:0010165 9.64 CASP3 ERCC6
16 cardiac muscle tissue morphogenesis GO:0055008 9.64 MYBPC3 MYLK2
17 cardiac myofibril assembly GO:0055003 9.63 MYBPC3 MYL2
18 cardiac muscle fiber development GO:0048739 9.63 MYBPC3 MYH6
19 adult heart development GO:0007512 9.62 MYH6 MYH7
20 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH6 MYH7
21 heart contraction GO:0060047 9.61 MYL2 TNNI3
22 negative regulation of ATPase activity GO:0032780 9.61 TNNI3 TNNT2
23 cardiac muscle contraction GO:0060048 9.61 MYBPC3 MYH6 MYH7 MYL2 MYLK2 TNNI3
24 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.6 CASP1 CASP10
25 transition between fast and slow fiber GO:0014883 9.59 MYH7 TNNT1
26 regulation of striated muscle contraction GO:0006942 9.58 MYBPC3 MYL2
27 cellular response to staurosporine GO:0072734 9.55 CASP3 CASP7
28 regulation of muscle filament sliding GO:0032971 9.51 MYBPC3 MYLK2
29 muscle filament sliding GO:0030049 9.23 MYBPC3 MYH6 MYH7 MYL2 TNNI3 TNNT1
30 apoptotic process GO:0006915 10.04 CASP1 CASP10 CASP3 CASP7 GZMB

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.95 CASP1 CASP10 CASP3 CASP7 GZMB
2 cysteine-type peptidase activity GO:0008234 9.81 CASP1 CASP10 CASP3 CASP7
3 structural constituent of muscle GO:0008307 9.67 MYBPC3 MYL2 TPM1
4 actin filament binding GO:0051015 9.65 MYBPC3 MYH6 MYH7 TNNI3 TPM1
5 actin binding GO:0003779 9.63 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
6 cysteine-type endopeptidase activity GO:0004197 9.62 CASP1 CASP10 CASP3 CASP7
7 microfilament motor activity GO:0000146 9.58 MYH6 MYH7
8 tropomyosin binding GO:0005523 9.56 TNNT1 TNNT2
9 actin-dependent ATPase activity GO:0030898 9.54 MYH6 MYH7
10 myosin heavy chain binding GO:0032036 9.52 MYBPC3 MYL2
11 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.48 CASP3 CASP7
12 troponin T binding GO:0031014 9.46 TNNI3 TNNT1
13 calcium-dependent ATPase activity GO:0030899 9.43 TNNT1 TNNT2
14 troponin C binding GO:0030172 9.4 TNNI3 TNNT2
15 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.27 CASP1
16 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.13 CASP1 CASP10 CASP3
17 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 8.92 CASP1 CASP10 CASP3 CASP7
18 protein binding GO:0005515 10.32 BTC CASP1 CASP10 CASP3 CASP7 CAV3

Sources for Cardiomyopathy, Familial Hypertrophic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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