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CMH1
MCID: CRD086
MIFTS: 68

Cardiomyopathy, Familial Hypertrophic, 1 (CMH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

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MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 56 13 71
Familial Hypertrophic Cardiomyopathy 12 52 25 73 15
Asymmetric Septal Hypertrophy 56 74 73 6 71
Cardiomyopathy, Familial Hypertrophic 56 73 6
Cmh1 56 12 73
Hypertrophic Subaortic Stenosis, Idiopathic 56 73
Cardiomyopathy, Hypertrophic, 1, Digenic 56 29
Cardiomyopathy, Familial Hypertrophic 1 12 73
Familial Hypertrophic Cardiomyopathy 1 29 6
Heritable Hypertrophic Cardiomyopathy 52 25
Ventricular Hypertrophy, Hereditary 56 73
Cardiomyopathy, Hypertrophic, 1 56 29
Hypertrophic Cardiomyopathy 1 12 15
Hypertrophic Cardiomyopathy 73 71
Cmh 56 73
Ash 56 73
Hcm 25 73
Cardiomyopathy, Hypertrophic, Familial, Type 1 39
Idiopathic Hypertrophic Subaortic Stenosis 25
Familial Asymmetric Septal Hypertrophy 25
Cardiomyopathy, Hypertrophic, Familial 71
Cardiomyopathy Familial Hypertrophic 52
Asymmetric Septal Hypertrophy; Ash 56
Hereditary Ventricular Hypertrophy 25
Hypertrophic Cardiomyopathy 19 12
Familial Hcm 52
Fhc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
digenic dominant (see miscellaneous)

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


HPO:

31
cardiomyopathy, familial hypertrophic, 1:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0080326 DOID:0110307
OMIM 56 192600
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
UMLS 71 C0007194 C0205700 C0949658 more
Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

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Genetics Home Reference : 25 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. The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting. While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 1, also known as familial hypertrophic cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 4 and noonan syndrome with multiple lentigines. 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 Allograft rejection. The drugs Angiotensin II and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle, 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.

NIH Rare Diseases : 52 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) .

OMIM : 56 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 : 73 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.
Cardiomyopathy, familial hypertrophic 1: 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 : 74 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

About this section

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
Rare Familial Disorder with Hypertrophic Cardiomyopathy

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

(show top 50) (show all 910)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 4 35.1 TTN TPM1 MYH7 MYBPC3
2 noonan syndrome with multiple lentigines 33.5 MYH7 MYH6 MYBPC3
3 barth syndrome 33.5 MYH7 MYH6 MYBPC3
4 hypertrophic cardiomyopathy 31.6 TTN TPM1 TNNC1 MYLK2 MYL2 MYH7B
5 restrictive cardiomyopathy 31.6 TTN TPM1 TNNC1 MYL2 MYH7 MYH6
6 arrhythmogenic right ventricular cardiomyopathy 31.5 TTN MYL2 MYH7 MYH6
7 atrial standstill 1 31.3 TTN TPM1 MYL2 MYH7 MYH6 MYBPC3
8 congestive heart failure 31.3 TTN MYH7 MYH6 MYBPC3
9 brugada syndrome 31.2 TTN TPM1 MYH7 MYH6 MYBPC3 CAV3
10 cardiac conduction defect 31.2 MYH7 MYBPC3
11 aortic valve disease 2 31.2 TTN MYH7 MYH6 MYBPC3
12 dilated cardiomyopathy 31.1 TTN TPM1 TNNC1 MYL2 MYH7 MYH6
13 familial isolated dilated cardiomyopathy 31.1 TTN TPM1 TNNC1 MYH7 MYH6 MYBPC3
14 myopathy 31.1 TTN TPM1 MYL2 MYH7B MYH7 MYH6
15 long qt syndrome 1 31.0 MYH7 MYH6 MYBPC3 CAV3
16 long qt syndrome 31.0 TTN MYLK2 MYH7 MYH6 MYBPC3 CAV3
17 cardiac arrest 31.0 TTN MYH7 MYH6 MYBPC3
18 miyoshi muscular dystrophy 30.9 TTN MYH7 MYH6 CAV3
19 left ventricular noncompaction 30.9 TTN TPM1 MYLK2 MYL2 MYH7B MYH7
20 neuromuscular disease 30.9 TTN MYH7 MYH6 CAV3
21 rare cardiomyopathy 30.9 TTN TPM1 MYL2 MYH7 MYBPC3
22 wolff-parkinson-white syndrome 30.9 MYH7 MYH6 MYBPC3
23 myopathy, congenital 30.8 TTN MYH7 MYH6
24 atrial heart septal defect 30.8 TTN MYH7 MYH6
25 danon disease 30.8 MYH7 MYH6 MYBPC3
26 progressive familial heart block, type ia 30.8 TTN MYBPC3
27 cardiomyopathy, dilated, 1e 30.7 TTN TPM1 MYH7
28 ebstein anomaly 30.7 TPM1 MYH7 MYH6 MYBPC3
29 muscular dystrophy, congenital, lmna-related 30.6 TTN MYH7 MYH6 CAV3
30 muscle hypertrophy 30.6 TTN MYH7 MYH6
31 malignant hyperthermia 30.5 MYH7 MYH6 CAV3
32 cardiomyopathy, familial hypertrophic, 7 12.8
33 cardiomyopathy, familial hypertrophic, 2 12.7
34 cardiomyopathy, familial hypertrophic, 3 12.7
35 cardiomyopathy, familial hypertrophic, 6 12.7
36 cardiomyopathy, familial hypertrophic, 8 12.7
37 cardiomyopathy, familial hypertrophic, 10 12.7
38 cardiomyopathy, familial hypertrophic, 11 12.7
39 cardiomyopathy, familial hypertrophic, 12 12.7
40 cardiomyopathy, familial hypertrophic, 13 12.7
41 cardiomyopathy, familial hypertrophic, 14 12.7
42 cardiomyopathy, familial hypertrophic, 15 12.7
43 cardiomyopathy, familial hypertrophic, 9 12.7
44 cardiomyopathy, familial hypertrophic, 16 12.7
45 cardiomyopathy, familial hypertrophic, 17 12.7
46 cardiomyopathy, familial hypertrophic, 18 12.7
47 cardiomyopathy, familial hypertrophic, 20 12.7
48 cardiomyopathy, familial hypertrophic, 26 12.7
49 cardiomyopathy, familial hypertrophic, 25 12.7
50 hypertrophic cardiomyopathy due to intensive athletic training 12.4

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



Diseases related to Cardiomyopathy, Familial Hypertrophic, 1
Sources

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 1

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Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 arrhythmia 31 HP:0011675
3 congestive heart failure 31 HP:0001635
4 subvalvular aortic stenosis 31 HP:0001682
5 asymmetric septal hypertrophy 31 HP:0001670

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy
arrhythmia
congestive heart failure
subaortic stenosis
sudden death
more

Clinical features from OMIM:

192600

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.9 CASP1 CASP3 CASP7 CAV3 IFT43 MYBPC3
2 homeostasis/metabolism MP:0005376 9.73 CASP1 CASP3 CASP6 CAV3 GCM2 MYBPC3
3 muscle MP:0005369 9.28 CASP3 CAV3 MYBPC3 MYH6 MYH7 MYL2
Sources

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
2
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
3
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
4
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
5
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
6
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
7
Ethanol Approved Phase 4 64-17-5 702
8
Dobutamine Approved Phase 4 34368-04-2 36811
9 carnitine Phase 4
10 Vasodilator Agents Phase 4
11 Angiotensin II Type 1 Receptor Blockers Phase 4
12 Angiotensinogen Phase 4
13 Angiotensin Receptor Antagonists Phase 4
14 Giapreza Phase 4
15 Neurotransmitter Agents Phase 4
16 Diuretics, Potassium Sparing Phase 4
17 Antihypertensive Agents Phase 4
18 Mineralocorticoids Phase 4
19 Mineralocorticoid Receptor Antagonists Phase 4
20 diuretics Phase 4
21 Adrenergic beta-1 Receptor Antagonists Phase 4
22 Adrenergic beta-Antagonists Phase 4
23 Adrenergic Antagonists Phase 4
24 Sympatholytics Phase 4
25 Adrenergic Agents Phase 4
26 Adrenergic beta-Agonists Phase 4
27 Cardiotonic Agents Phase 4
28 Sympathomimetics Phase 4
29 Adrenergic Agonists Phase 4
30 Protective Agents Phase 4
31
Losartan Approved Phase 3 114798-26-4 3961
32
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
33
Atorvastatin Approved Phase 3 134523-00-5 60823
34
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
35
Atenolol Approved Phase 3 29122-68-7 2249
36
Sulconazole Approved Phase 3 61318-90-9
37 Hypolipidemic Agents Phase 3
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
39 Lipid Regulating Agents Phase 3
40 Anticholesteremic Agents Phase 3
41 Antimetabolites Phase 3
42
Trimetazidine Approved, Investigational Phase 2 5011-34-7
43
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
44
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
45
Dipyridamole Approved Phase 2 58-32-2 3108
46
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
47
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
50
Valsartan Approved, Investigational Phase 2 137862-53-4 60846

Interventional clinical trials:

(show top 50) (show all 200)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
3 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
4 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
5 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Completed NCT03249272 Phase 4 Regadenoson;Adenosine
6 A Comparison of Isolating the Pulmonary Veins With the Cryoballoon Catheter Versus Radiofrequency Segmental Isolation:a Randomized Controlled Prospective Non-inferiority Trial Completed NCT00774566 Phase 4
7 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT04133532 Phase 4 Metoprolol
8 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Not yet recruiting NCT02948998 Phase 4 Spironolactone
9 The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis Suspended NCT01375335 Phase 4 Dobutamine
10 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
11 A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Completed NCT03470545 Phase 3 mavacamten;Placebo
12 Sinus Rhythm Maintenance in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation - Randomized Comparison of Antiarrhythmic Therapy vs. Radiofrequency Catheter Ablation (SHAARC) Completed NCT00821353 Phase 3 Antiarrhythmic drugs
13 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
14 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
15 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
16 A Multi-Center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients With Fabry Disease Completed NCT00864851 Phase 3
17 Psychological Support for Patients With an Implantable Cardioverter Defibrillator Completed NCT00152763 Phase 3
18 A Long-Term Safety Extension Study of Mavacamten (MYK-461) in Adults With Hypertrophic Cardiomyopathy Who Have Completed the MAVERICK-HCM (MYK-461-006) or EXPLORER-HCM (MYK-461-005) Trials (MAVA-LTE) Enrolling by invitation NCT03723655 Phase 2, Phase 3 mavacamten
19 A Randomized, Double-blind, Placebo-controlled Study to Evaluate Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Who Are Eligible for Septal Reduction Therapy Not yet recruiting NCT04349072 Phase 3 Mavacamten;Placebo
20 Study Title: A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of GS-6615 on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
21 A Study on the Efficacy, Safety, and Tolerability of Perhexiline Maleate in Subjects With Hypertrophic Cardiomyopathy and Moderate-To-Severe Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
22 A Phase 2b Randomised, Double Blind, Placebo-controlled Trial of Trimetazidine Therapy in Patients With Non-obstructive Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
23 Candesartan Use in Hypertrophic and Non-Obstructive Cardiomyopathy Estate (The CHANCE): a Double-Blind, Placebo-Controlled, Randomized, Multicenter Study Unknown status NCT00430833 Phase 2 candesartan
24 Treatment of Suspected Cholelithiasis With Nitroglycerin: a Randomized, Prospective Double-blind Trial Unknown status NCT01715220 Phase 2 sublingual nitroglycerine
25 INHibition of the Renin Angiotensin System in Hypertrophic Cardiomyopathy and the Effect on Ventricular Hypertrophy - a Randomized Intervention Trial With Losartan. Completed NCT01447654 Phase 2 Losartan;Placebo
26 A Randomized, Double-blind, Placebo-controlled, Concentration-guided, Exploratory Study of Mavacameten in Patients With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) and Preserved Left Ventricular Ejection Fraction Completed NCT03442764 Phase 2 mavacamten;Placebo
27 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
28 A Phase 2 Open-label Pilot Study to Evaluate Efficacy, Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
29 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
30 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
31 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
32 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
33 A Randomized Prospective Comparison of DDD Chamber Pacing and Percutaneous Transluminal Septal Ablation in Obstructive Hypertrophic Cardiomyopathy Associated With Severe Drug-Refractory Symptoms Completed NCT00001894 Phase 2
34 Double-Blind Placebo-Controlled Study of Pirfenidone, A Novel Anti-Fibrotic Drug in Symptomatic Patients With Hypertrophic Cardiomyopathy (HCM) Associated With Left Ventricular Diastolic Function Completed NCT00011076 Phase 2 Pirfenidone
35 Double Blind Placebo Controlled Study of Cyclosporin A in Patients With Left Ventricular Hypertrophy Caused by Sarcomeric Gene Mutations Completed NCT00001965 Phase 2 Cyclosporine A
36 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
37 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
38 A Multi-Center, Randomized, Double-blind, Placebo-controlled, Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Recruiting NCT04219826 Phase 2 CK-3773274 (5 - 15 mg);CK-3773274 (10 - 30 mg);Placebo for CK-3773274
39 A Multi-center, Randomized, Placebo-controlled Patient and Investigator-blinded Study to Explore the Efficacy of Oral Sacubitril/Valsartan in Adult Patients With Non-obstructive Hypertrophic Cardiomyopathy (nHCM) Recruiting NCT04164732 Phase 2 LCZ696;Placebo
40 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Recruiting NCT01332162 Phase 2
41 The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
42 A Pilot Study Assessing the Effects of Ranolazine on Coronary Microvascular Dysfunction in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03953989 Phase 2 Ranolazine PR (prolonged-release) 500 mg 1 tablet bis in die and 750 mg 1 tablet bis in die
43 Clinical and Genetic Determinants of Disease Progression and Response to Sacubitril/Valsartan vs Lifestyle (Physical Activity and Dietary Nitrate) in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03832660 Phase 2 Sacubitril/Valsartan
44 An Open-Label Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in Study MYK-461-004 (PIONEER) Active, not recruiting NCT03496168 Phase 2 mavacamten
45 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
46 Randomised Controlled Trial of pErhexiline on regreSsion Of Left Ventricular hypErtrophy (LVH) in Patients With Symptomatic Hypertrophic CardioMyopathy (RESOLVE-HCM) Not yet recruiting NCT04426578 Phase 2 Perhexiline
47 A Phase 2 Clinical Trial to Test the Safety and Efficacy of Etravirine in Friedreich Ataxia Patients Not yet recruiting NCT04273165 Phase 2 Etravirine Tablets
48 A Phase 2, Multi-Center, Open-Label, Ascending Dose Study on the Efficacy, Safety and Tolerability of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure With Preserved Left Ventricular Function Terminated NCT02862600 Phase 2 Perhexiline
49 Technetium-NC100692 SCintigraphy to Detect avB3 Integrin Expression as a mARker of Fibrosis in Hypertrophic Cardiomyopathy and Acute Coronary Syndrome: the SCAR Study Terminated NCT01230918 Phase 2
50 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Terminated NCT02856373 Phase 2

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1 29 CAV3 MYH6 MYH7 MYLK2
2 Cardiomyopathy, Hypertrophic, 1, Digenic 29
3 Cardiomyopathy, Hypertrophic, 1 29
Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

About this section

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

40
Heart, Testes, Skeletal Muscle, Liver, Brain, Kidney, Breast
Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 1

About this section

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 756)
# Title Authors PMID Year
1
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 61 56 6
18175163 2008
2
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. 61 6 56
10424815 1999
3
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 6 56 61
1552912 1992
4
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 61 6 56
1975517 1990
5
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 6 56
19138847 2009
6
Mutations in sarcomere protein genes in left ventricular noncompaction. 6 56
18506004 2008
7
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. 56 6
17476457 2007
8
Gene mutations in apical hypertrophic cardiomyopathy. 6 56
16267253 2005
9
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 6 56
12081993 2002
10
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. 6 56
11424919 2001
11
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 6 56
9544842 1998
12
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. 6 56
7786104 1994
13
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 6 56
8483915 1993
14
Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease. 56 6
21239280 1992
15
Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. 56 6
13732753 1961
16
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 61 56
17655857 2007
17
One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. 6 61
15483641 2005
18
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 61 6
14672715 2004
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 61 6
12767666 2003
20
Molecular genetics of familial hypertrophic cardiomyopathy (FHC). 6 61
12601548 2003
21
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. 61 56
11303515 2001
22
Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. 6 61
9541509 1998
23
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. 6 61
9140839 1997
24
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. 61 6
8655135 1996
25
Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. 6 61
7909436 1994
26
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. 61 6
8282798 1994
27
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. 61 6
8254035 1993
28
A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. 6 61
8343162 1993
29
Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy. 6 61
1361491 1992
30
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 61 6
1430197 1992
31
No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: evidence for genetic heterogeneity. 61 56
1511975 1992
32
Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. 56 61
1735158 1992
33
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 61 56
1944483 1991
34
Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population. 61 56
2022018 1991
35
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. 56 61
1975475 1990
36
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. 61 56
1975599 1990
37
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. 56 61
2811944 1989
38
Hyperthyroidism and familial hypertrophic cardiomyopathy. 56 61
6824408 1983
39
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. 56
29988065 2018
40
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. 6
27854360 2017
41
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
42
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). 6
25173338 2014
43
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 56
24113344 2014
44
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. 56
23598715 2013
45
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
46
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
47
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
48
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
49
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
50
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 1

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

6 (show top 50) (show all 399) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7B NM_020884.5(MYH7B):c.750+1G>ASNV Pathogenic 638683 20:33570359-33570359 20:34982556-34982556
2 MYH7B NM_020884.5(MYH7B):c.5055_5056CA[1] (p.Thr1686fs)short repeat Pathogenic 638684 20:33588243-33588244 20:35000440-35000441
3 MYH7B NM_020884.5(MYH7B):c.732_736CGGGC[3] (p.Lys248fs)short repeat Pathogenic 638682 20:33570339-33570340 20:34982536-34982537
4 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)SNV Pathogenic 8608 rs121909374 11:47364129-47364129 11:47342578-47342578
5 MYH7 NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)SNV Pathogenic 14087 rs121913624 14:23898487-23898487 14:23429278-23429278
6 MYH7 NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)SNV Pathogenic 14089 rs121913625 14:23898214-23898214 14:23429005-23429005
7 MYH7 NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)SNV Pathogenic 14090 rs121913626 14:23896932-23896932 14:23427723-23427723
8 MYH7 NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly)SNV Pathogenic 14100 rs121913634 14:23894581-23894581 14:23425372-23425372
9 MYH7 NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)SNV Pathogenic 14101 rs121913624 14:23898487-23898487 14:23429278-23429278
10 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
11 MYH7 NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)SNV Pathogenic 14103 rs121913636 14:23897749-23897749 14:23428540-23428540
12 MYH7 NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)SNV Pathogenic 14104 rs121913637 14:23895180-23895180 14:23425971-23425971
13 MYH7 NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)SNV Pathogenic 14105 rs121913638 14:23895189-23895189 14:23425980-23425980
14 MYH7 NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)SNV Pathogenic 14106 rs121913639 14:23893235-23893235 14:23424026-23424026
15 MYH7 NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)SNV Pathogenic 14107 rs121913641 14:23895179-23895179 14:23425970-23425970
16 MYH7 NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)SNV Pathogenic 14095 rs121913630 14:23895023-23895023 14:23425814-23425814
17 MYH7 nsv513807deletion Pathogenic 14096
18 MYH7 NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)SNV Pathogenic 14097 rs121913631 14:23893316-23893316 14:23424107-23424107
19 MYH7 NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)SNV Pathogenic 14098 rs121913632 14:23894969-23894969 14:23425760-23425760
20 MYH7 NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)SNV Pathogenic 14119 rs121913651 14:23897840-23897840 14:23428631-23428631
21 MYH7 NM_000257.4(MYH7):c.2609G>A (p.Arg870His)SNV Pathogenic 14120 rs36211715 14:23894048-23894048 14:23424839-23424839
22 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
23 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
24 MYBPC3 NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)duplication Pathogenic 42619 rs397515963 11:47359281-47359281 11:47337729-47337730
25 MYBPC3 NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)duplication Pathogenic 42632 rs397515970 11:47359019-47359020 11:47337468-47337469
26 MYBPC3 NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)SNV Pathogenic 42669 rs397515992 11:47356593-47356593 11:47335042-47335042
27 MYH7 NM_000257.4(MYH7):c.1358G>A (p.Arg453His)SNV Pathogenic 42838 rs397516101 14:23898213-23898213 14:23429004-23429004
28 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
29 MYH7 NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)SNV Pathogenic 42885 rs121913630 14:23895023-23895023 14:23425814-23425814
30 MYH7 NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)SNV Pathogenic 42922 rs397516161 14:23893357-23893357 14:23424148-23424148
31 MYH7 NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)SNV Pathogenic 43106 rs397516269 14:23900635-23900635 14:23431426-23431426
32 MYH7 NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)SNV Pathogenic 164342 rs727503261 14:23894983-23894983 14:23425774-23425774
33 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>ASNV Pathogenic 155808 rs587782958 11:47355103-47355103 11:47333552-47333552
34 MYBPC3 NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)duplication Pathogenic 181076 rs730880649 11:47362747-47362748 11:47341196-47341197
35 MYBPC3 NM_000256.3(MYBPC3):c.3710_3711CT[1] (p.Leu1238fs)short repeat Pathogenic 217836 rs863225272 11:47353724-47353725 11:47332173-47332174
36 MYBPC3 NM_000256.3(MYBPC3):c.1359del (p.Val454fs)deletion Pathogenic 217835 rs863225271 11:47364479-47364479 11:47342928-47342928
37 MYBPC3 NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter)SNV Pathogenic 217827 rs190228518 11:47364621-47364621 11:47343070-47343070
38 MYH6 NM_002471.3(MYH6):c.3193dup (p.Gln1065fs)duplication Pathogenic 217832 rs863225269 14:23862178-23862179 14:23392969-23392970
39 MYH7 NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)SNV Pathogenic/Likely pathogenic 181176 rs727504299 14:23894999-23894999 14:23425790-23425790
40 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
41 MYH7 NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)SNV Pathogenic/Likely pathogenic 164337 rs727503260 14:23894612-23894612 14:23425403-23425403
42 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
43 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
44 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
45 MYH7 NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)SNV Pathogenic/Likely pathogenic 42862 rs121913626 14:23896932-23896932 14:23427723-23427723
46 MYBPC3 NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)SNV Pathogenic/Likely pathogenic 42537 rs397515905 11:47364270-47364270 11:47342719-47342719
47 MYH7 NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)SNV Pathogenic/Likely pathogenic 42916 rs397516157 14:23894102-23894102 14:23424893-23424893
48 MYH7 NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)SNV Pathogenic/Likely pathogenic 42993 rs397516202 14:23887453-23887453 14:23418244-23418244
49 MYH7 NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)SNV Pathogenic/Likely pathogenic 43013 rs397516212 14:23901912-23901912 14:23432703-23432703
50 MYH7 NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)SNV Pathogenic/Likely pathogenic 14124 rs267606911 14:23897796-23897796 14:23428587-23428587

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

73 (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

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 1

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

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
PAK Pathway 63
Show member pathways
 13.13 MYL2 MYH7B MYH7 MYH6 CASP7 CASP6
2
Allograft rejection 1 36
Show member pathways
 12.76 MYH7 MYH6 CASP7 CASP6 CASP3
3
Cardiac conduction 65
Show member pathways
 12.49 TTN TPM1 TNNC1 MYL2 MYL12A MYH6
4
TRAF Pathway 63
Show member pathways
 12.48 CASP7 CASP6 CASP3 CASP1
5
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.43 MYLK2 MYL2 MYL12A MYH7 MYH6
6
VEGF Signaling 66
Show member pathways
 12.41 CASP7 CASP6 CASP3 CASP1
7
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 TPM1 TNNC1 MYLK2 MYL2 MYH7 MYH6
8
Salmonella infection (KEGG) 36
12.22 MYL12A CASP7 CASP3 CASP1
9
RhoGDI Pathway 63
Show member pathways
 12.21 MYL2 MYH7B MYH7 MYH6 CASP3
10
p53 Signaling 63
Show member pathways
 12.15 CASP7 CASP6 CASP3 CASP1
11
Apoptosis and Autophagy 4
12.14 CASP7 CASP6 CASP3 CASP1
12
Immune response CCR3 signaling in eosinophils 22
Show member pathways
 12.11 MYLK2 MYL2 MYL12A MYH7 MYH6
13
Apoptosis and survival Caspase cascade 22
Show member pathways
 12.09 CASP7 CASP6 CASP3 CASP1
14
Presenilin-Mediated Signaling 63
11.99 CASP7 CASP6 CASP3 CASP1
15
Ceramide Pathway 63
Show member pathways
 11.89 CASP7 CASP6 CASP3 CASP1
16
S-1P Stimulated Signaling 63
11.83 CASP7 CASP6 CASP3 CASP1
17
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.77 TTN TPM1 TNNC1 MYL2 MYH7 MYH6
18
Parkinsons Disease Pathway 1
11.73 CASP7 CASP6 CASP3
19
VEGF Pathway (Tocris) 60
Show member pathways
 11.72 CASP7 CASP6 CASP3
20
Nanomaterial induced apoptosis 1
Show member pathways
 11.72 CASP7 CASP6 CASP3
21
Pertussis 36
11.67 CASP7 CASP3 CASP1
22
Cardiac muscle contraction 36
11.59 TPM1 TNNC1 MYL2 MYH7 MYH6
23
Translocation of GLUT4 to the plasma membrane 65
11.57 MYH7B MYH7 MYH6
24
Legionellosis 36
11.52 CASP7 CASP3 CASP1
25
Granzyme Pathway 63
Show member pathways
 11.46 CASP7 CASP6 CASP3
26
Cytoskeleton remodeling_RalA regulation pathway 22
11.44 MYL2 MYH7B MYH7 MYH6
27
Smooth Muscle Contraction 65
11.24 TPM1 MYL12A CAV3
28
Striated Muscle Contraction 65 1
10.96 TTN TPM1 TNNC1 MYL2 MYH6 MYBPC3
29
Cardiomyocyte Differentiation through BMP Receptors 63
10.92 MYL2 MYH7B MYH7
30
ERK Pathway in Huntingtons Disease 1
10.78 CASP7 CASP3
Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.77 TTN MYL12A MYH7 MYH6 CAV3
2 stress fiber GO:0001725 9.71 TPM1 MYL12A MYH7 MYH6
3 myofibril GO:0030016 9.62 TPM1 MYL2 MYH7 MYH6
4 A band GO:0031672 9.46 MYL2 MYBPC3
5 myosin filament GO:0032982 9.46 MYH7B MYH7 MYH6 MYBPC3
6 muscle myosin complex GO:0005859 9.43 MYH7 MYH6
7 cardiac myofibril GO:0097512 9.43 MYL2 MYH7B MYBPC3
8 myosin complex GO:0016459 9.35 MYL2 MYL12A MYH7B MYH7 MYH6
9 sarcomere GO:0030017 9.17 TTN TPM1 MYLK2 MYL2 MYH7 MYH6

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.73 TTN TPM1 MYL12A MYH7 MYH6 CAV3
2 sarcomere organization GO:0045214 9.7 TTN TPM1 MYH6
3 regulation of heart contraction GO:0008016 9.69 TPM1 MYH6 CAV3
4 regulation of heart rate GO:0002027 9.65 MYH7 MYH6 CAV3
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 TPM1 TNNC1 MYL2 MYH7 MYH6 MYBPC3
6 striated muscle cell differentiation GO:0051146 9.62 CASP7 CASP3
7 response to metal ion GO:0010038 9.62 TNNC1 CASP3
8 striated muscle contraction GO:0006941 9.62 TTN MYLK2 MYH7 MYH6
9 regulation of muscle contraction GO:0006937 9.61 TPM1 TNNC1
10 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN MYLK2
11 regulation of the force of heart contraction GO:0002026 9.61 MYL2 MYH7 MYH6
12 cardiac myofibril assembly GO:0055003 9.6 TTN MYL2
13 cardiac muscle hypertrophy in response to stress GO:0014898 9.59 MYH7 MYH6
14 adult heart development GO:0007512 9.58 MYH7 MYH6
15 cardiac muscle fiber development GO:0048739 9.58 TTN MYH6
16 execution phase of apoptosis GO:0097194 9.58 CASP7 CASP6 CASP3
17 transition between fast and slow fiber GO:0014883 9.57 TNNC1 MYH7
18 regulation of ATPase activity GO:0043462 9.56 TNNC1 MYH6
19 regulation of striated muscle contraction GO:0006942 9.55 MYL2 MYBPC3
20 detection of muscle stretch GO:0035995 9.54 TTN CAV3
21 cellular response to staurosporine GO:0072734 9.54 CASP7 CASP6 CASP3
22 muscle filament sliding GO:0030049 9.5 TTN TPM1 TNNC1 MYL2 MYH7 MYH6
23 leukocyte apoptotic process GO:0071887 9.49 CASP7 CASP3
24 regulation of muscle filament sliding GO:0032971 9.46 MYLK2 MYBPC3
25 cardiac muscle contraction GO:0060048 9.23 TTN TPM1 TNNC1 MYLK2 MYL2 MYH7

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 TTN TPM1 TNNC1 TM4SF1 MYLK2 MYL2
2 actin binding GO:0003779 9.8 TPM1 MYH7B MYH7 MYH6 MYBPC3
3 calmodulin binding GO:0005516 9.76 TTN MYLK2 MYH7 MYH6
4 motor activity GO:0003774 9.69 MYH7B MYH7 MYH6
5 cysteine-type peptidase activity GO:0008234 9.67 CASP7 CASP6 CASP3 CASP1
6 actin filament binding GO:0051015 9.63 TTN TPM1 TNNC1 MYH7B MYH7 MYH6
7 cysteine-type endopeptidase activity GO:0004197 9.62 CASP7 CASP6 CASP3 CASP1
8 structural constituent of muscle GO:0008307 9.56 TTN TPM1 MYL2 MYBPC3
9 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.49 CASP3 CASP1
10 myosin heavy chain binding GO:0032036 9.48 MYL2 MYBPC3
11 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP7 CASP6 CASP3 CASP1
12 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.92 CASP7 CASP6 CASP3 CASP1
Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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