CMH1
MCID: CRD086
MIFTS: 69

Cardiomyopathy, Familial Hypertrophic, 1 (CMH1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 57 13 70
Familial Hypertrophic Cardiomyopathy 12 20 43 72 15
Asymmetric Septal Hypertrophy 57 73 72 6 70
Cmh1 57 12 72
Hypertrophic Subaortic Stenosis, Idiopathic 57 72
Cardiomyopathy, Hypertrophic, 1, Digenic 57 29
Cardiomyopathy, Familial Hypertrophic 1 12 72
Familial Hypertrophic Cardiomyopathy 1 29 6
Cardiomyopathy, Familial Hypertrophic 57 72
Heritable Hypertrophic Cardiomyopathy 20 43
Ventricular Hypertrophy, Hereditary 57 72
Hereditary Ventricular Hypertrophy 43 6
Cardiomyopathy, Hypertrophic, 1 57 29
Hypertrophic Cardiomyopathy 19 12 6
Hypertrophic Cardiomyopathy 1 12 15
Hypertrophic Cardiomyopathy 72 70
Cmh 57 72
Ash 57 72
Hcm 43 72
Cardiomyopathy, Hypertrophic, Familial, Type 1 39
Idiopathic Hypertrophic Subaortic Stenosis 43
Familial Asymmetric Septal Hypertrophy 43
Cardiomyopathy, Hypertrophic, Familial 70
Cardiomyopathy Familial Hypertrophic 20
Asymmetric Septal Hypertrophy; Ash 57
Familial Hcm 20
Fhc 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080326 DOID:0110307
OMIM® 57 192600
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
UMLS 70 C0007194 C0205700 C0949658 more

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

MedlinePlus Genetics : 43 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, 11 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 Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are congestive heart failure 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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Hypertrophic cardiomyopathy (HCM) is a condition in which the heart becomes thickened without an obvious... 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
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 943)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 11 33.1 LOC101928174 ACTC1
2 noonan syndrome with multiple lentigines 32.9 TNNT2 RAF1 MYH7 MYH6 MYBPC3
3 barth syndrome 32.8 TNNT2 MYH7 MYH6 MYBPC3 ACTC1
4 mitochondrial dna depletion syndrome 12b 32.4 MYH7 MYH6 MYBPC3
5 left ventricular noncompaction 32.0 TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
6 familial isolated dilated cardiomyopathy 31.9 TPM1 TNNT2 TNNI3 TCAP RAF1 MYL2
7 brugada syndrome 31.8 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
8 rasopathy 31.8 TNNT2 RAF1 MYL3 MYL2 MYH7 MYH6
9 hypertrophic cardiomyopathy 31.7 TPM1 TNNT2 TNNI3 TCAP RPL36A-HNRNPH2 RAF1
10 left bundle branch hemiblock 31.7 TNNT2 TNNI3 LMNA
11 atrial heart septal defect 31.6 TNNT2 TNNI3 MYH7 MYH6 ACTC1
12 arrhythmogenic right ventricular cardiomyopathy 31.5 MYL2 MYH7 MYH6 LMNA
13 dilated cardiomyopathy 31.4 TPM1 TNNT2 TNNI3 TCAP RAF1 MYL3
14 lipoprotein quantitative trait locus 31.4 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 LMNA
15 atrial standstill 1 31.3 TPM1 TNNT2 TNNI3 RPL36A-HNRNPH2 MYLK2 MYL3
16 first-degree atrioventricular block 31.3 MYH7 MHRT LMNA
17 mitral valve insufficiency 31.3 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
18 aortic valve disease 2 31.3 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
19 cardiac arrest 31.3 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
20 neuromuscular disease 31.2 TCAP MYH7 MYH6 MHRT LMNA CAV3
21 cardiomyopathy, dilated, 1m 31.2 TNNI3 TCAP MYL2
22 myopathy 31.2 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
23 heart disease 31.2 TNNT2 TNNI3 MYL3 MYH7 MYH6 MYBPC3
24 cardiac conduction defect 31.2 MYH7 MYH6 MYBPC3 LMNA
25 long qt syndrome 31.2 TCAP MYLK2 MYH7 MYH6 MYBPC3 LMNA
26 wolff-parkinson-white syndrome 31.1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 MHRT
27 cardiomyopathy, dilated, 1e 31.0 TPM1 MYL2 MYH7 LMNA
28 atrioventricular block 31.0 TNNI3 MYH7 MHRT LMNA
29 restrictive cardiomyopathy 31.0 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
30 myopathy, distal, 1 31.0 MYH7 MYH6 MHRT
31 heart septal defect 31.0 TNNT2 MYH6 ACTC1
32 tetralogy of fallot 31.0 TPM1 TNNT2 TNNI3 MYH6 ACTC1
33 patent foramen ovale 30.9 TNNT2 TNNI3 MYL3 MYH6 ACTC1
34 acute myocardial infarction 30.9 TNNT2 TNNI3 MYL3 MHRT
35 miyoshi muscular dystrophy 30.9 TCAP MYH7 MYH6 CAV3
36 muscular dystrophy 30.9 TNNT2 TCAP MYH7 LMNA CAV3
37 scapuloperoneal myopathy 30.9 MYH7 MYH6 MHRT
38 limb-girdle muscular dystrophy 30.8 TCAP LMNA CAV3
39 cardiomyopathy, familial hypertrophic, 4 30.8 TPM1 TNNT2 MYH7 MYBPC3
40 congestive heart failure 30.8 TNNT2 TNNI3 MYH7 MYH6
41 danon disease 30.8 MYH7 MYH6 MYBPC3
42 distal arthrogryposis 30.8 MYH6 MYBPC3 MT-TI ACTC1
43 interatrial communication 30.8 MYH6 LOC101928174 ACTC1
44 ebstein anomaly 30.8 TPM1 TNNT2 MYH7 MYH6 MYBPC3 ACTC1
45 cardiomyopathy, dilated, 1b 30.7 TNNT2 MYH7 MYH6 MYBPC3 MHRT LMNA
46 mobitz type ii atrioventricular block 30.7 TNNT2 MYH7 MYH6 LMNA ACTC1
47 long qt syndrome 1 30.7 TNNT2 MYH7 MYH6 MYBPC3 CAV3
48 long qt syndrome 2 30.7 MYH7 MYH6 MYBPC3 CAV3
49 muscular dystrophy, congenital, lmna-related 30.7 TCAP MYH7 MYH6 LMNA CAV3
50 fabry disease 30.6 TNNI3 RPL36A-HNRNPH2 GLA

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 arrhythmia 31 HP:0011675
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 subvalvular aortic stenosis 31 HP:0001682
5 sudden death 31 HP:0001699
6 asymmetric septal hypertrophy 31 HP:0001670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
congestive heart failure
hypertrophic cardiomyopathy
arrhythmia
sudden death
asymmetric septal hypertrophy
more

Clinical features from OMIM®:

192600 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
2 homeostasis/metabolism MP:0005376 9.77 ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
3 muscle MP:0005369 9.44 ACTC1 CAV3 GLA LMNA MYBPC3 MYH6

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
3
Ethanol Approved Phase 4 64-17-5 702
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Dobutamine Approved Phase 4 34368-04-2 36811
6
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
7
Adenosine Approved, Investigational Phase 4 58-61-7 60961
8 carnitine Phase 4
9 Mineralocorticoids Phase 4
10 Hormone Antagonists Phase 4
11 diuretics Phase 4
12 Mineralocorticoid Receptor Antagonists Phase 4
13 Sodium Channel Blockers Phase 4
14 Diuretics, Potassium Sparing Phase 4
15 Antihypertensive Agents Phase 4
16 Adrenergic Antagonists Phase 4
17 Sympatholytics Phase 4
18 Adrenergic beta-Antagonists Phase 4
19 Adrenergic beta-1 Receptor Antagonists Phase 4
20 Adrenergic Agents Phase 4
21 Protective Agents Phase 4
22 Adrenergic Agonists Phase 4
23 Adrenergic beta-Agonists Phase 4
24 Cardiotonic Agents Phase 4
25 Sympathomimetics Phase 4
26 Analgesics Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Neurotransmitter Agents Phase 4
29
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
30
Atorvastatin Approved Phase 3 134523-00-5 60823
31
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
32 Anticholesteremic Agents Phase 3
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
34 Antimetabolites Phase 3
35 Lipid Regulating Agents Phase 3
36 Hypolipidemic Agents Phase 3
37
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
38
Trimetazidine Approved, Investigational Phase 2 5011-34-7
39
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
40
Losartan Approved Phase 2 114798-26-4 3961
41
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
42
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
43
Candesartan Experimental Phase 2 139481-59-7 2541
44 Analgesics, Non-Narcotic Phase 2
45 Antirheumatic Agents Phase 2
46 Anti-Inflammatory Agents Phase 2
47 Anti-Inflammatory Agents, Non-Steroidal Phase 2
48 Vasoconstrictor Agents Phase 2
49
Bilirubin Phase 2 635-65-4 5280352
50 Giapreza Phase 2

Interventional clinical trials:

(show top 50) (show all 128)
# Name Status NCT ID Phase Drugs
1 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Unknown status NCT02948998 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 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
4 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Recruiting NCT04133532 Phase 4 Metoprolol
5 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
6 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
7 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
8 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
9 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
10 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
11 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
12 A Randomized, Double-blind, Placebo-controlled Study to Evaluate Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Who Are Eligible for Septal Reduction Therapy Recruiting NCT04349072 Phase 3 Mavacamten;Placebo
13 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
14 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
15 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
16 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
17 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
18 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Unknown status NCT01332162 Phase 2
19 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
20 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
21 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
22 The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy. Completed NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
23 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
24 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
25 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
26 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
27 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
28 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
29 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Completed NCT01912534 Phase 2 Valsartan;Placebo
30 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
31 A Pilot Study Assessing the Effects of Ranolazine on Coronary Microvascular Dysfunction in Patients With Hypertrophic Cardiomyopathy Completed NCT03953989 Phase 2 Ranolazine PR (prolonged-release) 500 mg 1 tablet bis in die and 750 mg 1 tablet bis in die
32 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
33 A Randomised, Double-blind, Placebo-controlled, Phase 2 Evaluation of the Efficacy and Mechanism of Trientine in Patients With Hypertrophic Cardiomyopathy Recruiting NCT04706429 Phase 2 Trientine;Placebo
34 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
35 Randomised Controlled Trial of pErhexiline on regreSsion Of Left Ventricular hypErtrophy (LVH) in Patients With Symptomatic Hypertrophic CardioMyopathy (RESOLVE-HCM) Recruiting NCT04426578 Phase 2 Perhexiline
36 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
37 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
38 A Randomized, Double-Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of IMB-1018972 in Patients With Non-obstructive Hypertrophic Cardiomyopathy Not yet recruiting NCT04826185 Phase 2 IMB-1018972;Placebo
39 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
40 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
41 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
42 Diastolic Ventricular Interaction and the Effects Of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
43 Mechanistic Study of the Effect of Inorganic Sodium Nitrate on Cardiac and Skeletal Muscle Metabolic Efficiency in Patients With Hypertrophic Cardiomyopathy Unknown status NCT03251287 Phase 1 Sodium Nitrate;Placebo
44 Obstructive Hypertrophic Cardiomyopathy (HCM) in Children: Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy Completed NCT00001396 Phase 1
45 Safety, Tolerability, Preliminary Pharmacokinetics and Pharmacodynamics of Single Ascending Oral Doses of MYK-461 in Patient Volunteers With Hypertrophic Cardiomyopathy Completed NCT02329184 Phase 1 MYK-461
46 A Phase 1, Double-Blind, Randomized, Placebo-Controlled, Multi-Part, Single and Multiple Ascending Dose Study of CK-3773274 in Healthy Adult Subjects Completed NCT03767855 Phase 1 CK-3773274 - Granules in Capsule;Placebo - Granules in Capsule;CK-3773274 - Tablets
47 Pilot Feasibility Study With N-acetylcystein (NAC) in Patients With HCM Caused by Sarcomere Proteins Mutations Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
48 A Clinical Study Evaluating a Recombinant Adeno-Associated Virus Serotype 9 (rAAV9) Capsid Containing the Human Lysosome-Associated Membrane Protein 2 Isoform B (LAMP2B) Transgene (RP-A501; AAV9.LAMP2B) in Male Patients With DD Recruiting NCT03882437 Phase 1
49 A Randomized, Double-Blind, Placebo-Controlled, Sequential, Phase I Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CT-G20 in Subjects With Obstructive Hypertrophic Cardiomyopathy Recruiting NCT04418297 Phase 1 CT-G20;Placebo
50 A Phase 1, Double-blind, Randomized, Placebo-controlled Study to Evaluate the Safety, Tolerability and Pharmacokinetics of CK-3773274 in Healthy Chinese Subjects Not yet recruiting NCT04783766 Phase 1 CK-3773274;Placebo

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

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

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

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

40
Heart, Skeletal Muscle, Brain, Endothelial, Cardiac Myocytes, Smooth Muscle, Liver

Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 988)
# Title Authors PMID Year
1
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 61 57 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 57
10424815 1999
3
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 57 6 61
1552912 1992
4
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 57 61 6
1944483 1991
5
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. 57 61 6
1975599 1990
6
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 61 57 6
1975517 1990
7
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 57 6
24113344 2014
8
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 57 6
19138847 2009
9
Mutations in sarcomere protein genes in left ventricular noncompaction. 6 57
18506004 2008
10
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. 6 57
17476457 2007
11
Gene mutations in apical hypertrophic cardiomyopathy. 6 57
16267253 2005
12
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 6 57
16199542 2005
13
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 57 6
15519027 2004
14
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 6 57
12974739 2003
15
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 57 6
12707239 2003
16
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 6 57
12081993 2002
17
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. 57 6
11424919 2001
18
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 6 57
10725281 2000
19
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 57 6
9544842 1998
20
Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. 6 57
9154300 1997
21
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. 6 57
7786104 1994
22
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 57 6
8483915 1993
23
Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease. 6 57
21239280 1992
24
Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. 6 57
13732753 1961
25
Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. 6 61
24298987 2014
26
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. 6 61
23674513 2013
27
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations. 61 6
23508784 2013
28
Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences. 61 6
23580644 2013
29
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 6 61
23290139 2013
30
Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy. 6 61
22213221 2012
31
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 61 6
22857948 2012
32
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy. 6 61
22735528 2012
33
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. 61 6
21959974 2012
34
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 61 6
22112859 2012
35
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 61 6
21769673 2011
36
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. 6 61
21415409 2011
37
Defective dynamic properties of human cardiac troponin mutations. 6 61
20057144 2010
38
The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA. 6 61
20865685 2010
39
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 61 6
19645038 2009
40
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 6 61
19273718 2009
41
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. 61 6
18761664 2008
42
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. 61 6
18565996 2008
43
The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface. 61 6
17987111 2007
44
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 61 57
17655857 2007
45
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. 6 61
17703256 2007
46
[Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype]. 6 61
16630449 2006
47
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 61 6
15858117 2005
48
Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. 61 6
15769446 2005
49
Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. 61 6
15528230 2005
50
One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. 61 6
15483641 2005

Variations for Cardiomyopathy, Familial Hypertrophic, 1

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

6 (show top 50) (show all 1728)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV3 NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) SNV Pathogenic 8288 rs121909280 GRCh37: 3:8787288-8787288
GRCh38: 3:8745602-8745602
2 MT-TI m.4295A>G SNV Pathogenic 9603 rs121434467 GRCh37: MT:4295-4295
GRCh38: MT:4295-4295
3 MT-TG m.9997T>C SNV Pathogenic 9611 rs121434475 GRCh37: MT:9997-9997
GRCh38: MT:9997-9997
4 MYH7 NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) SNV Pathogenic 14093 rs121913629 GRCh37: 14:23893193-23893193
GRCh38: 14:23423984-23423984
5 MYH7 nsv513807 Deletion Pathogenic 14096 GRCh37:
GRCh38:
6 MYH7 NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) SNV Pathogenic 14100 rs121913634 GRCh37: 14:23894581-23894581
GRCh38: 14:23425372-23425372
7 MYH7 NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) SNV Pathogenic 14103 rs121913636 GRCh37: 14:23897749-23897749
GRCh38: 14:23428540-23428540
8 MYH7 NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) SNV Pathogenic 14106 rs121913639 GRCh37: 14:23893235-23893235
GRCh38: 14:23424026-23424026
9 MYH7 NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) SNV Pathogenic 14129 rs121913625 GRCh37: 14:23898214-23898214
GRCh38: 14:23429005-23429005
10 MYH7B NM_020884.5(MYH7B):c.732_736CGGGC[3] (p.Lys248fs) Microsatellite Pathogenic 638682 rs764950910 GRCh37: 20:33570339-33570340
GRCh38: 20:34982536-34982537
11 MYH7B NM_020884.5(MYH7B):c.750+1G>A SNV Pathogenic 638683 rs1050997719 GRCh37: 20:33570359-33570359
GRCh38: 20:34982556-34982556
12 MYH7B NM_020884.5(MYH7B):c.5055_5056CA[1] (p.Thr1686fs) Microsatellite Pathogenic 638684 rs1600477808 GRCh37: 20:33588243-33588244
GRCh38: 20:35000440-35000441
13 TCAP NM_003673.4(TCAP):c.136_137del (p.Gln46fs) Deletion Pathogenic 835598 GRCh37: 17:37821994-37821995
GRCh38: 17:39665741-39665742
14 TCAP NM_003673.3(TCAP):c.66G>A (p.Trp22Ter) SNV Pathogenic 290645 rs141019458 GRCh37: 17:37821678-37821678
GRCh38: 17:39665425-39665425
15 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) SNV Pathogenic 222001 rs1057515421 GRCh37: 1:156106075-156106075
GRCh38: 1:156136284-156136284
16 MYH7 NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) SNV Pathogenic 42862 rs121913626 GRCh37: 14:23896932-23896932
GRCh38: 14:23427723-23427723
17 LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic 66856 rs267607581 GRCh37: 1:156107442-156107442
GRCh38: 1:156137651-156137651
18 MYH7 NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) SNV Pathogenic 14094 rs121913640 GRCh37: 14:23899076-23899076
GRCh38: 14:23429867-23429867
19 MYH7 NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) SNV Pathogenic 14099 rs121913633 GRCh37: 14:23900656-23900656
GRCh38: 14:23431447-23431447
20 MYH7 NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) SNV Pathogenic 14101 rs121913624 GRCh37: 14:23898487-23898487
GRCh38: 14:23429278-23429278
21 MYH7 , MHRT NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) SNV Pathogenic 14118 rs121913650 GRCh37: 14:23884861-23884861
GRCh38: 14:23415652-23415652
22 MYH7 NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) SNV Pathogenic 14124 rs267606911 GRCh37: 14:23897796-23897796
GRCh38: 14:23428587-23428587
23 TNNT2 NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) Deletion Pathogenic 684850 rs1571627587 GRCh37: 1:201334397-201334402
GRCh38: 1:201365269-201365274
24 MYH7 NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) SNV Pathogenic 42993 rs397516202 GRCh37: 14:23887453-23887453
GRCh38: 14:23418244-23418244
25 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 GRCh37: 15:63353098-63353098
GRCh38: 15:63060899-63060899
26 TNNT2 NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) SNV Pathogenic 12411 rs121964857 GRCh37: 1:201328373-201328373
GRCh38: 1:201359245-201359245
27 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
28 MYL2 NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) SNV Pathogenic 14067 rs104894369 GRCh37: 12:111352091-111352091
GRCh38: 12:110914287-110914287
29 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) SNV Pathogenic 43627 rs397516456 GRCh37: 1:201334426-201334426
GRCh38: 1:201365298-201365298
30 TPM1 NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) SNV Pathogenic 31882 rs199476315 GRCh37: 15:63353922-63353922
GRCh38: 15:63061723-63061723
31 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV Pathogenic 43389 rs397516354 GRCh37: 19:55665462-55665462
GRCh38: 19:55154094-55154094
32 TNNT2 NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) SNV Pathogenic 177807 rs727504331 GRCh37: 1:201334370-201334370
GRCh38: 1:201365242-201365242
33 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) SNV Pathogenic 6846 rs121908987 GRCh37: 7:151273498-151273498
GRCh38: 7:151576412-151576412
34 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 GRCh37: 1:201328345-201328345
GRCh38: 1:201359217-201359217
35 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV Pathogenic 43384 rs397516349 GRCh37: 19:55665513-55665513
GRCh38: 19:55154145-55154145
36 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
37 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
38 MYH7 NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) SNV Pathogenic 177758 rs727504311 GRCh37: 14:23894114-23894114
GRCh38: 14:23424905-23424905
39 TCAP NM_003673.3(TCAP):c.26_33dup (p.Glu12fs) Duplication Pathogenic 448649 rs778568339 GRCh37: 17:37821635-37821636
GRCh38: 17:39665382-39665383
40 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) SNV Pathogenic 43388 rs397516353 GRCh37: 19:55665477-55665477
GRCh38: 19:55154109-55154109
41 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic 165549 rs727503513 GRCh37: 1:201334420-201334420
GRCh38: 1:201365292-201365292
42 MYL3 NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) SNV Pathogenic 14063 rs104893750 GRCh37: 3:46901019-46901019
GRCh38: 3:46859529-46859529
43 MYL3 NM_000258.3(MYL3):c.281G>A (p.Arg94His) SNV Pathogenic 31777 rs199474703 GRCh37: 3:46902192-46902192
GRCh38: 3:46860702-46860702
44 MYH7 NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) SNV Pathogenic 14119 rs121913651 GRCh37: 14:23897840-23897840
GRCh38: 14:23428631-23428631
45 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
46 MYBPC3 NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) Duplication Pathogenic 8603 rs193922384 GRCh37: 11:47353677-47353678
GRCh38: 11:47332126-47332127
47 MYBPC3 NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) SNV Pathogenic 36615 rs193922386 GRCh37: 11:47367916-47367916
GRCh38: 11:47346365-47346365
48 MYBPC3 NM_000256.3(MYBPC3):c.1168del (p.His390fs) Deletion Pathogenic 42508 rs397515889 GRCh37: 11:47365098-47365098
GRCh38: 11:47343547-47343547
49 MYBPC3 NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) SNV Pathogenic 42540 rs375882485 GRCh37: 11:47364249-47364249
GRCh38: 11:47342698-47342698
50 MYBPC3 NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) SNV Pathogenic 42690 rs397516005 GRCh37: 11:47355117-47355117
GRCh38: 11:47333566-47333566

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

72 (show top 50) (show all 173)
# 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

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
2
Show member pathways
12.82 RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
3
Show member pathways
12.81 RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
4
Show member pathways
12.7 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
5
Show member pathways
12.5 RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
6
Show member pathways
12.46 TPM1 TNNT2 TNNI3 RAF1 MYLK2 MYL3
7 12.41 TPM1 TNNT2 TNNI3 LMNA ACTC1
8
Show member pathways
12.28 RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
9
Show member pathways
12.27 MYL3 MYL2 MYH7B MYH7 MYH6
10 11.97 RAF1 MYLK2 MYL3 MYL2
11 11.84 RAF1 MYH7 MYH6
12 11.73 TNNT2 TNNI3 MYL3
13 11.7 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
14
Show member pathways
11.59 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
15 11.53 MYH7B MYH7 MYH6
16 11.49 TNNT2 TNNI3 MYL2 MYH6 ACTC1
17 11.47 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
18 11.45 MYL3 MYL2 MYH7B MYH7 MYH6 ACTC1
19 11.39 RAF1 MYLK2 MYL3
20 11 MYL2 MYH7B MYH7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.3 TPM1 TNNT2 TNNI3 TCAP RPL36A-HNRNPH2 RAF1
2 Z disc GO:0030018 9.76 TCAP MYH7 MYH6 CAV3
3 stress fiber GO:0001725 9.67 TPM1 MYH7 MYH6
4 myosin complex GO:0016459 9.65 MYL3 MYL2 MYH7B MYH7 MYH6
5 myosin filament GO:0032982 9.62 MYH7B MYH7 MYH6 MYBPC3
6 I band GO:0031674 9.61 TCAP MYL3 ACTC1
7 A band GO:0031672 9.58 MYL3 MYL2 MYBPC3
8 myofibril GO:0030016 9.55 TNNT2 TNNI3 MYL2 MYH7 MYH6
9 muscle myosin complex GO:0005859 9.54 MYL3 MYH7 MYH6
10 troponin complex GO:0005861 9.51 TNNT2 TNNI3
11 cardiac Troponin complex GO:1990584 9.48 TNNT2 TNNI3
12 sarcomere GO:0030017 9.36 TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
13 cardiac myofibril GO:0097512 9.35 TNNT2 TNNI3 MYL2 MYH7B MYBPC3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 regulation of heart rate GO:0002027 9.76 MYH7 MYH6 CAV3
2 positive regulation of ATPase activity GO:0032781 9.76 TPM1 TNNT2 MYL3 MYBPC3
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.76 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
4 skeletal muscle contraction GO:0003009 9.75 TNNI3 TCAP MYH7
5 regulation of muscle contraction GO:0006937 9.73 TPM1 TNNT2 TNNI3
6 sarcomere organization GO:0045214 9.73 TPM1 TNNT2 TCAP MYH6
7 muscle contraction GO:0006936 9.73 TPM1 TNNT2 TNNI3 MYH7 MYH6 CAV3
8 heart contraction GO:0060047 9.72 TNNI3 MYL2 ACTC1
9 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 TCAP MYH7 MYH6
10 regulation of heart contraction GO:0008016 9.71 TPM1 TNNT2 MYH6 CAV3
11 adult heart development GO:0007512 9.7 TCAP MYH7 MYH6
12 cardiac muscle tissue morphogenesis GO:0055008 9.69 TCAP MYLK2 ACTC1
13 cardiac myofibril assembly GO:0055003 9.67 TCAP MYL2 ACTC1
14 regulation of the force of heart contraction GO:0002026 9.67 MYL3 MYL2 MYH7 MYH6
15 regulation of striated muscle contraction GO:0006942 9.65 MYL3 MYL2 MYBPC3
16 cardiac muscle contraction GO:0060048 9.65 TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
17 actin filament-based movement GO:0030048 9.63 MYH6 ACTC1
18 response to muscle stretch GO:0035994 9.62 TCAP RAF1
19 negative regulation of nitric-oxide synthase activity GO:0051001 9.62 GLA CAV3
20 striated muscle contraction GO:0006941 9.62 TNNI3 MYLK2 MYH7 MYH6
21 negative regulation of ATPase activity GO:0032780 9.61 TNNT2 TNNI3
22 cardiac muscle fiber development GO:0048739 9.61 TCAP MYH6
23 detection of muscle stretch GO:0035995 9.6 TCAP CAV3
24 skeletal muscle thin filament assembly GO:0030240 9.59 TCAP ACTC1
25 regulation of muscle filament sliding GO:0032971 9.57 MYLK2 MYBPC3
26 muscle filament sliding GO:0030049 9.32 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.71 TNNT2 MYH7 MYH6 ACTC1
2 motor activity GO:0003774 9.56 MYL3 MYH7B MYH7 MYH6
3 actin filament binding GO:0051015 9.55 TPM1 TNNI3 MYH7B MYH7 MYH6
4 actin binding GO:0003779 9.5 TPM1 TNNT2 TNNI3 MYH7B MYH7 MYH6
5 titin binding GO:0031432 9.43 TCAP MYBPC3
6 myosin heavy chain binding GO:0032036 9.37 MYL2 MYBPC3
7 troponin C binding GO:0030172 9.32 TNNT2 TNNI3
8 structural constituent of muscle GO:0008307 9.02 TPM1 TCAP MYL3 MYL2 MYBPC3

Sources for Cardiomyopathy, Familial Hypertrophic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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