CMH1
MCID: CRD086
MIFTS: 73

Cardiomyopathy, Familial Hypertrophic, 1 (CMH1)

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 57 12 71
Familial Hypertrophic Cardiomyopathy 11 19 42 73 14
Asymmetric Septal Hypertrophy 57 75 73 5 71
Hypertrophic Cardiomyopathy 1 11 28 5 14
Hypertrophic Cardiomyopathy 19 11 28 5
Cmh1 57 11 73
Hypertrophic Subaortic Stenosis, Idiopathic 57 73
Cardiomyopathy, Hypertrophic, 1, Digenic 57 28
Cardiomyopathy, Familial Hypertrophic 1 11 73
Cardiomyopathy, Hypertrophic, Familial 43 71
Cardiomyopathy, Familial Hypertrophic 57 73
Ventricular Hypertrophy, Hereditary 57 73
Hereditary Ventricular Hypertrophy 42 5
Hypertrophic Cardiomyopathy 73 71
Cmh 57 73
Ash 57 73
Hcm 42 73
Cardiomyopathy, Hypertrophic, Familial, Type 1 38
Idiopathic Hypertrophic Subaortic Stenosis 42
Familial Asymmetric Septal Hypertrophy 42
Heritable Hypertrophic Cardiomyopathy 42
Cardiomyopathy, Hypertrophic, 1 57
Fhc 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
digenic form caused by heterozygous mutations in the mylk2 and myh7 genes


Classifications:



External Ids:

Disease Ontology 11 DOID:0080326 DOID:0110307
OMIM® 57 192600
OMIM Phenotypic Series 57 PS192600
MeSH 43 D024741
NCIt 49 C84773
SNOMED-CT 68 83978005
UMLS 71 C0007194 C0205700 C0949658 more

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

MedlinePlus Genetics: 42 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 cardiomyopathy, familial hypertrophic, 25. 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

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.

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 08-Dec-2022)

Disease Ontology 11 Familial hypertrophic cardiomyopathy: 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.

Hypertrophic cardiomyopathy 1: A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYH7 gene on chromosome 14q12.

Wikipedia: 75 Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes... 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 Cardiomyopathy, Familial Hypertrophic, 28
Rare Hypertrophic Cardiomyopathy 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 1177)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 11 33.1 GJD2-DT ACTC1
2 cardiomyopathy, familial hypertrophic, 25 33.0 TPM1 TCAP MYBPC3
3 noonan syndrome with multiple lentigines 32.9 TNNT2 RAF1 MYH7 MYH6 MYBPC3
4 barth syndrome 32.7 TNNT2 MYH7 MYH6 MYBPC3 LMNA ACTC1
5 mitochondrial dna depletion syndrome 12b 32.4 MYH7 MYH6 MYBPC3
6 cardiac arrest 32.0 TNNT2 TNNI3 MYH7
7 hypertensive heart disease 31.9 TNNT2 TNNI3 MYH7 MYH6
8 rasopathy 31.8 TPM1 TNNT2 TNNI3 RAF1 MYL3 MYL2
9 aortic valve disease 2 31.7 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
10 brugada syndrome 31.7 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
11 left bundle branch hemiblock 31.7 TNNT2 TNNI3 MYBPC3 LMNA
12 arrhythmogenic right ventricular cardiomyopathy 31.7 TPM1 TNNT2 TNNI3 MYL3 MYH7 MYH6
13 atrial heart septal defect 31.6 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
14 hypertrophic cardiomyopathy 31.6 TPM1 TNNT2 TNNI3 TCAP RAF1 MYLK2
15 neuromuscular disease 31.5 TCAP MYH7 MYH6 LMNA CAV3
16 heart disease 31.4 TNNT2 TNNI3 MYL2 MYH7 MYH6 MYBPC3
17 heart valve disease 31.4 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
18 systolic heart failure 31.4 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
19 myocarditis 31.4 TNNT2 TNNI3 MYH7 MYH6 LMNA
20 amyloidosis, hereditary, transthyretin-related 31.4 TNNT2 MYBPC3 GLA
21 acute myocardial infarction 31.4 TNNT2 TNNI3 MYL3 MHRT
22 lipoprotein quantitative trait locus 31.3 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 LMNA
23 patent ductus arteriosus 1 31.3 TNNT2 MYH7 MYH6 MYBPC3 ACTC1
24 atrial standstill 1 31.2 MYH7 MYBPC3 LMNA
25 danon disease 31.2 TNNT2 MYL3 MYH7 MYH6 MYBPC3 GLA
26 mitral valve insufficiency 31.2 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
27 congestive heart failure 31.2 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
28 long qt syndrome 31.1 TNNT2 TNNI3 OXTR MYL3 MYL2 MYH7
29 constrictive pericarditis 31.1 TNNT2 TNNI3 MYBPC3
30 noonan syndrome 1 31.1 RAF1 MYH7 MYH6 MYBPC3 ACTC1
31 cardiac conduction defect 31.1 MYH7 MYH6 MYBPC3 LMNA
32 cardiomyopathy, dilated, 1m 31.1 TNNI3 TCAP MYL2
33 endomyocardial fibrosis 31.1 MYH7 MYBPC3 ACTC1
34 myopathy, distal, 1 31.1 MYL3 MYL2 MYH7 MYH6 MYBPC3 MHRT
35 first-degree atrioventricular block 31.1 TNNI3 LMNA
36 cardiomyopathy, dilated, 1e 31.1 TPM1 MYL2 MYH7 MYH6 MHRT LMNA
37 dextrocardia 31.1 TNNT2 MYH7 ACTC1
38 myopathy 31.0 TPM1 TNNT2 TNNI3 TCAP MYL2 MYH7
39 third-degree atrioventricular block 31.0 TNNI3 MYH6 LMNA
40 patent foramen ovale 31.0 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
41 wolff-parkinson-white syndrome 31.0 TNNT2 MYH7 MYH6 MYBPC3 MHRT GJD2-DT
42 tetralogy of fallot 31.0 TPM1 TNNT2 TNNI3 MYL3 MYH7 MYH6
43 left ventricular noncompaction 31.0 TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
44 mitral valve disease 30.9 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
45 long qt syndrome 1 30.9 TNNT2 OXTR MYL2 MYH7 MYH6 MYBPC3
46 miyoshi muscular dystrophy 30.9 TCAP MYH7 MYH6 CAV3
47 heart septal defect 30.9 TNNT2 MYH7 MYH6 ACTC1
48 dilated cardiomyopathy 30.9 TPM1 TNNT2 TNNI3 TCAP RAF1 MYL3
49 restrictive cardiomyopathy 30.9 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
50 atrioventricular block 30.9 TNNT2 TNNI3 MYH6 LMNA

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 30 HP:0001635
2 arrhythmia 30 HP:0011675
3 subvalvular aortic stenosis 30 HP:0001682
4 sudden death 30 HP:0001699
5 asymmetric septal hypertrophy 30 HP:0001670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
congestive heart failure
hypertrophic cardiomyopathy
arrhythmia
sudden death
asymmetric septal hypertrophy
more

Clinical features from OMIM®:

192600 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10 ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
2 normal MP:0002873 9.86 ACTC1 LMNA MYH7 MYL2 OXTR RAF1
3 homeostasis/metabolism MP:0005376 9.8 ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
4 cardiovascular system MP:0005385 9.47 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 84)
# 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
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
6
Bisoprolol Approved Phase 4 66722-44-9 2405
7
Dobutamine Approved Phase 4 34368-04-2 36811
8
Adenosine Approved, Investigational Phase 4 58-61-7 60961
9
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
10
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
11 Hormones Phase 4
12 Hormone Antagonists Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Mineralocorticoids Phase 4
15 Mineralocorticoid Receptor Antagonists Phase 4
16 Sodium Channel Blockers Phase 4
17 Adrenergic beta-Antagonists Phase 4
18 Adrenergic beta-1 Receptor Antagonists Phase 4
19 Adrenergic Antagonists Phase 4
20 Antihypertensive Agents Phase 4
21 Sympatholytics Phase 4
22 Adrenergic Agents Phase 4
23 Cardiotonic Agents Phase 4
24 Adrenergic beta-Agonists Phase 4
25 Adrenergic Agonists Phase 4
26 Sympathomimetics Phase 4
27 Protective Agents Phase 4
28 Vasodilator Agents Phase 4
29 Neurotransmitter Agents Phase 4
30 Anti-Arrhythmia Agents Phase 4
31 Analgesics Phase 4
32
Valsartan Approved, Investigational Phase 2, Phase 3 137862-53-4 60846
33
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
34
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
35
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
36
Atorvastatin Approved Phase 3 134523-00-5 60823
37
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
38
Angiotensinogen Phase 2, Phase 3 16133225
39 Angiotensin Receptor Antagonists Phase 2, Phase 3
40 Angiotensin II Type 1 Receptor Blockers Phase 2, Phase 3
41 Giapreza Phase 2, Phase 3
42 Sacubitril and valsartan sodium hydrate drug combination Phase 2, Phase 3
43 Antimetabolites Phase 3
44 Hypolipidemic Agents Phase 3
45 Anticholesteremic Agents Phase 3
46 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
47 Lipid Regulating Agents Phase 3
48 Sodium-Glucose Transporter 2 Inhibitors Phase 3
49 Hypoglycemic Agents Phase 3
50
Trimetazidine Approved, Investigational Phase 2 5011-34-7 21109

Interventional clinical trials:

(show top 50) (show all 174)
# Name Status NCT ID Phase Drugs
1 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
2 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Unknown status NCT02948998 Phase 4 Spironolactone
3 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Completed NCT00879060 Phase 4 Spironolactone;Placebo
4 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
5 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Recruiting NCT04133532 Phase 4 Metoprolol
6 Treatment Effects of Bisoprolol and Verapamil in Symptomatic Patients With Non-obstructive Hypertrophic Cardiomyopathy Recruiting NCT05569382 Phase 4 Verapamil;Bisoprolol;Placebo
7 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
8 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
9 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
10 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
11 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
12 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
13 Clinical and Genetic Determinants of Disease Progression and Response to Lifestyle and Pharmacological Interventions in Patients With Hypertrophic Cardiomyopathy Completed NCT05366101 Phase 2, Phase 3 Sacubitril/Valsartan
14 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
15 A Phase 3, Multi-Center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Efficacy and Safety of CK-3773274 in Adults With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Recruiting NCT05186818 Phase 3 CK-3773274 (5 mg, 10 mg, 15 mg and 20 mg);Placebo to match CK-3773274
16 A Phase III, Randomized, Double-blinded, Placebo-controlled Clinical Study With A Long-term Extension to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT05174416 Phase 3 Mavacamten;Placebo
17 A Phase 3, Open-label, Single Arm, Clinical Study to Evaluate Efficacy, Safety and Tolerability of Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT05414175 Phase 3 Mavacamten
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) Active, not recruiting 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 Active, not recruiting NCT04349072 Phase 3 Mavacamten;Placebo
20 A Randomized, Double-blind, Placebo-controlled Clinical Study to Evaluate Mavacamten in Adults With Symptomatic Non-obstructive Hypertrophic Cardiomyopathy Not yet recruiting NCT05582395 Phase 3 Mavacamten
21 The Use of Empagliflozin in Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT05182658 Phase 3 Empagliflozin 10 MG;Placebo
22 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
23 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
24 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
25 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Unknown status NCT01332162 Phase 2
26 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
27 Clinical and Genetic Determinants of Disease Progression and Response to Sacubitril/Valsartan vs Lifestyle (Physical Activity and Dietary Nitrate) in Patients With Hypertrophic Cardiomyopathy Completed NCT03832660 Phase 2 Sacubitril/Valsartan
28 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
29 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
30 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
31 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
32 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
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 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
35 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
36 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
37 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
38 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
39 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Completed NCT01912534 Phase 2 Valsartan;Placebo
40 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
41 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
42 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
43 A Randomized, Double-Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of IMB-1018972 in Patients With Non-obstructive Hypertrophic Cardiomyopathy Recruiting NCT04826185 Phase 2 IMB-1018972;Placebo
44 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
45 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 Active, not recruiting NCT04219826 Phase 2 CK-3773274 (5 - 15 mg);CK-3773274 (10 - 30 mg);Placebo for CK-3773274
46 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) Active, not recruiting NCT04164732 Phase 2 LCZ696;Placebo
47 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
48 An Open-Label Study of CK-3773274 for Patients With Symptomatic Hypertrophic Cardiomyopathy (HCM) Enrolling by invitation NCT04848506 Phase 2 CK-3773274 (5 - 20 mg)
49 A Phase 2a, Open-label, Pilot Study to Evaluate Efficacy, Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of MYK-224 in Participants With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Not yet recruiting NCT05556343 Phase 2 MYK-224
50 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

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Cochrane evidence based reviews: cardiomyopathy, hypertrophic, familial

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

# Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy 1 28 CAV3 MYH6 MYH7 MYLK2
2 Hypertrophic Cardiomyopathy 19 28
3 Cardiomyopathy, Hypertrophic, 1, Digenic 28

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

Organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:

MalaCards : Heart, Skeletal Muscle, Brain, Endothelial, Cardiac Myocytes, Liver, Bone Marrow
ODiseA: Heart-Ventricle, Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 16181)
# Title Authors PMID Year
1
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 62 57 5
24113344 2014
2
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 62 57 5
18175163 2008
3
Mutations in sarcomere protein genes in left ventricular noncompaction. 62 57 5
18506004 2008
4
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. 62 57 5
17476457 2007
5
Gene mutations in apical hypertrophic cardiomyopathy. 62 57 5
16267253 2005
6
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 62 57 5
16199542 2005
7
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 62 57 5
15519027 2004
8
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 62 57 5
12974739 2003
9
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 62 57 5
12707239 2003
10
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 62 57 5
12081993 2002
11
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. 62 57 5
11424919 2001
12
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. 62 57 5
10725281 2000
13
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. 62 57 5
10424815 1999
14
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 62 57 5
9544842 1998
15
Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. 62 57 5
9154300 1997
16
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. 62 57 5
7786104 1994
17
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 62 57 5
8483915 1993
18
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 62 57 5
1552912 1992
19
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 62 57 5
1944483 1991
20
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. 62 57 5
1975599 1990
21
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 62 57 5
1975517 1990
22
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 57 5
19138847 2009
23
Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease. 57 5
21239280 1992
24
Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. 57 5
13732753 1961
25
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males. 62 5
34588271 2021
26
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs. 62 5
34137518 2021
27
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy. 62 5
32380161 2020
28
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. 62 5
32163302 2020
29
Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a 'false genotype-negative' family with hypertrophic cardiomyopathy. 62 5
32451163 2020
30
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. 62 5
31513939 2020
31
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. 62 5
31199839 2019
32
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction. 62 5
30206291 2018
33
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. 62 57
29988065 2018
34
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 62 5
30297972 2018
35
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 62 5
30022097 2018
36
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing. 62 5
29398688 2018
37
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. 62 5
28640247 2018
38
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 62 5
28615295 2017
39
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 62 5
28356264 2017
40
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 62 5
28420666 2017
41
Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. 62 5
28138913 2017
42
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. 62 5
28797094 2017
43
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. 62 5
28658286 2017
44
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 62 5
29121657 2017
45
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 62 5
28771489 2017
46
Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy. 62 5
27688314 2016
47
Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. 62 5
27108529 2016
48
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 62 5
27483260 2016
49
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 62 5
27247418 2016
50
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. 62 5
27082122 2016

Variations for Cardiomyopathy, Familial Hypertrophic, 1

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

5 (show top 50) (show all 2445)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH7B NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs) MICROSAT Pathogenic
638682 rs764950910 GRCh37: 20:33570339-33570340
GRCh38: 20:34982536-34982537
2 MYH7B NM_020884.7(MYH7B):c.624+1G>A SNV Pathogenic
638683 rs1050997719 GRCh37: 20:33570359-33570359
GRCh38: 20:34982556-34982556
3 MYH7B NM_020884.7(MYH7B):c.4931_4932del (p.Thr1644fs) MICROSAT Pathogenic
638684 rs1600477808 GRCh37: 20:33588243-33588244
GRCh38: 20:35000440-35000441
4 CAV3, OXTR NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) SNV Pathogenic
8288 rs121909280 GRCh37: 3:8787288-8787288
GRCh38: 3:8745602-8745602
5 MT-TG m.9997T>C SNV Pathogenic
9611 rs121434475 GRCh37: MT:9997-9997
GRCh38: MT:9997-9997
6 MYH7 NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) SNV Pathogenic
14093 rs121913629 GRCh37: 14:23893193-23893193
GRCh38: 14:23423984-23423984
7 MYH7 nsv513807 DEL Pathogenic
14096 GRCh37:
GRCh38:
8 MYH7 NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) SNV Pathogenic
14100 rs121913634 GRCh37: 14:23894581-23894581
GRCh38: 14:23425372-23425372
9 MYH7 NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) SNV Pathogenic
14103 rs121913636 GRCh37: 14:23897749-23897749
GRCh38: 14:23428540-23428540
10 MYH7 NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) SNV Pathogenic
14106 rs121913639 GRCh37: 14:23893235-23893235
GRCh38: 14:23424026-23424026
11 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) SNV Pathogenic
14123 rs121913654 GRCh37: 14:23884385-23884385
GRCh38: 14:23415176-23415176
12 MYH7 NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) SNV Pathogenic
14129 rs121913625 GRCh37: 14:23898214-23898214
GRCh38: 14:23429005-23429005
13 MYBPC3 NM_000256.3(MYBPC3):c.1168del (p.His390fs) DEL Pathogenic
42508 rs397515889 GRCh37: 11:47365098-47365098
GRCh38: 11:47343547-47343547
14 MYBPC3 NM_000256.3(MYBPC3):c.2308+1G>A SNV Pathogenic
Pathogenic
42610 rs112738974 GRCh37: 11:47360070-47360070
GRCh38: 11:47338519-47338519
15 MYBPC3 NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) DUP Pathogenic
42615 rs397515960 GRCh37: 11:47359342-47359343
GRCh38: 11:47337791-47337792
16 MYH7 NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) SNV Pathogenic
Likely Pathogenic
42885 rs121913630 GRCh37: 14:23895023-23895023
GRCh38: 14:23425814-23425814
17 MYBPC3 NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) DUP Pathogenic
42619 rs397515963 GRCh37: 11:47359281-47359281
GRCh38: 11:47337729-47337730
18 MYBPC3 NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs) MICROSAT Pathogenic
217836 rs863225272 GRCh37: 11:47353724-47353725
GRCh38: 11:47332173-47332174
19 MYH6 NM_002471.4(MYH6):c.3193dup (p.Gln1065fs) DUP Pathogenic
217832 rs863225269 GRCh37: 14:23862178-23862179
GRCh38: 14:23392969-23392970
20 MYBPC3 NM_000256.3(MYBPC3):c.1359del (p.Val454fs) DEL Pathogenic
217835 rs863225271 GRCh37: 11:47364479-47364479
GRCh38: 11:47342928-47342928
21 MYBPC3 NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) DUP Pathogenic
181076 rs730880649 GRCh37: 11:47362747-47362748
GRCh38: 11:47341196-47341197
22 MYBPC3 NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) SNV Pathogenic
42669 rs397515992 GRCh37: 11:47356593-47356593
GRCh38: 11:47335042-47335042
23 MYBPC3 NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) DUP Pathogenic
42632 rs397515970 GRCh37: 11:47359019-47359020
GRCh38: 11:47337468-47337469
24 MYBPC3 NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) DEL Pathogenic
42801 rs397516080 GRCh37: 11:47368190-47368191
GRCh38: 11:47346639-47346640
25 MYBPC3 NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) SNV Pathogenic
177850 rs573916965 GRCh37: 11:47367848-47367848
GRCh38: 11:47346297-47346297
26 MYBPC3 NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) SNV Pathogenic
164055 rs727503180 GRCh37: 11:47355547-47355547
GRCh38: 11:47333996-47333996
27 MYBPC3 NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) DEL Pathogenic
228370 rs876657705 GRCh37: 11:47356709-47356709
GRCh38: 11:47335158-47335158
28 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic
42807 rs397516083 GRCh37: 11:47367930-47367930
GRCh38: 11:47346379-47346379
29 MYBPC3 NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) SNV Pathogenic
181061 rs730880635 GRCh37: 11:47365146-47365146
GRCh38: 11:47343595-47343595
30 TNNT2 NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) DEL Pathogenic
684850 rs1571627587 GRCh37: 1:201334397-201334402
GRCh38: 1:201365269-201365274
31 MYBPC3 NM_000256.3(MYBPC3):c.2149-2del DEL Pathogenic
437425 rs1555121488 GRCh37: 11:47360232-47360232
GRCh38: 11:47338681-47338681
32 MYBPC3 NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) DEL Pathogenic
42727 rs397516029 GRCh37: 11:47354120-47354120
GRCh38: 11:47332569-47332569
33 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) SNV Pathogenic
222001 rs1057515421 GRCh37: 1:156106075-156106075
GRCh38: 1:156136284-156136284
34 MYBPC3 NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) SNV Pathogenic
978357 rs1233894123 GRCh37: 11:47365083-47365083
GRCh38: 11:47343532-47343532
35 MYL3 NM_000258.3(MYL3):c.281G>A (p.Arg94His) SNV Pathogenic
31777 rs199474703 GRCh37: 3:46902192-46902192
GRCh38: 3:46860702-46860702
36 MYH7 NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) SNV Pathogenic
177758 rs727504311 GRCh37: 14:23894114-23894114
GRCh38: 14:23424905-23424905
37 TNNT2 NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) SNV Pathogenic
177807 rs727504331 GRCh37: 1:201334370-201334370
GRCh38: 1:201365242-201365242
38 MYBPC3 NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) INDEL Pathogenic
42639 rs397515975 GRCh37: 11:47358987-47358988
GRCh38: 11:47337436-47337437
39 MYH7 NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu) SNV Pathogenic
407200 rs1060501452 GRCh37: 14:23898513-23898513
GRCh38: 14:23429304-23429304
40 MYBPC3 NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) SNV Pathogenic
42622 rs397515965 GRCh37: 11:47359090-47359090
GRCh38: 11:47337539-47337539
41 TCAP NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) SNV Pathogenic
44711 rs397516863 GRCh37: 17:37822330-37822330
GRCh38: 17:39666077-39666077
42 TCAP NM_003673.4(TCAP):c.136_137del (p.Gln46fs) DEL Pathogenic
835598 rs2057249899 GRCh37: 17:37821994-37821995
GRCh38: 17:39665741-39665742
43 TCAP NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) SNV Pathogenic
5525 rs104894655 GRCh37: 17:37822015-37822015
GRCh38: 17:39665762-39665762
44 TCAP NM_003673.4(TCAP):c.103G>T (p.Glu35Ter) SNV Pathogenic
286261 rs779699520 GRCh37: 17:37821715-37821715
GRCh38: 17:39665462-39665462
45 TCAP NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) DUP Pathogenic
448649 rs778568339 GRCh37: 17:37821635-37821636
GRCh38: 17:39665382-39665383
46 MYH7 NM_000257.4(MYH7):c.2609G>A (p.Arg870His) SNV Pathogenic
Pathogenic/Likely Pathogenic
14120 rs36211715 GRCh37: 14:23894048-23894048
GRCh38: 14:23424839-23424839
47 TCAP NM_003673.4(TCAP):c.110+5G>A SNV Pathogenic
1055526 GRCh37: 17:37821727-37821727
GRCh38: 17:39665474-39665474
48 TCAP NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer) DUP Pathogenic
290308 rs886044421 GRCh37: 17:37821653-37821654
GRCh38: 17:39665400-39665401
49 TCAP NM_003673.4(TCAP):c.34del (p.Glu12fs) DEL Pathogenic
1459213 GRCh37: 17:37821645-37821645
GRCh38: 17:39665392-39665392
50 TCAP NM_003673.4(TCAP):c.166C>T (p.Gln56Ter) SNV Pathogenic
1382475 GRCh37: 17:37822024-37822024
GRCh38: 17:39665771-39665771

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

73 (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 rs1285747856
16 MYH7 p.Asn602Ser VAR_004580 rs730880880
17 MYH7 p.Val606Met VAR_004581 rs121913627
18 MYH7 p.Lys615Asn VAR_004582 rs1164270609
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 rs1247313340
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 rs1302598456
41 MYH7 p.Ala355Thr VAR_019849 rs397516088
42 MYH7 p.Ala428Val VAR_019850 rs727503266
43 MYH7 p.Ile443Thr VAR_019851 rs1234112565
44 MYH7 p.Asn479Ser VAR_019852 rs727504236
45 MYH7 p.Glu483Lys VAR_019853 rs121913651
46 MYH7 p.Met659Ile VAR_019854 rs1241603111
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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
2
Show member pathways
12.77 RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
3
Show member pathways
12.76 MYH6 MYH7 MYH7B MYL2 MYL3 RAF1
4
Show member pathways
12.39 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
5 12.36 TPM1 TNNT2 TNNI3 LMNA ACTC1
6
Show member pathways
12.36 RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
7
Show member pathways
12.33 OXTR MYLK2 MYL2 ACTC1
8
Show member pathways
12.21 MYL3 MYL2 MYH7B MYH7 MYH6
9
Show member pathways
12.19 RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
10 12.11 RAF1 MYLK2 MYL2 CAV3
11 11.69 TNNT2 TNNI3 MYL3
12 11.36 RAF1 MYLK2 MYL3
13 11.34 MYL3 MYL2 MYH7B MYH7 MYH6 ACTC1
14 11.28 ACTC1 MYH6 MYL2 TNNI3 TNNT2
15
Show member pathways
11.15 TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
16 10.92 MYH7 MYH7B MYL2

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 Z disc GO:0030018 10.1 TCAP MYH7 MYH6 CAV3
2 stress fiber GO:0001725 10 TPM1 MYH7 MYH6
3 myosin II complex GO:0016460 9.97 MYL3 MYH7B MYH7 MYH6
4 I band GO:0031674 9.93 ACTC1 MYL3 TCAP
5 muscle myosin complex GO:0005859 9.91 MYL3 MYH7 MYH6
6 A band GO:0031672 9.88 MYL3 MYL2 MYBPC3
7 myosin filament GO:0032982 9.87 MYBPC3 MYH6 MYH7 MYH7B
8 myosin complex GO:0016459 9.86 MYL3 MYL2 MYH7B MYH7 MYH6
9 troponin complex GO:0005861 9.81 TNNT2 TNNI3
10 cardiac Troponin complex GO:1990584 9.78 TNNT2 TNNI3
11 myofibril GO:0030016 9.76 TNNT2 TNNI3 MYL2 MYH7 MYH6
12 sarcomere GO:0030017 9.64 TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
13 cardiac myofibril GO:0097512 9.61 MYBPC3 MYH7B MYL2 TNNI3 TNNT2

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 regulation of heart rate GO:0002027 10.07 CAV3 MYH6 MYH7
2 skeletal muscle contraction GO:0003009 10.06 TNNI3 TCAP MYH7
3 regulation of heart contraction GO:0008016 10.06 CAV3 MYH6 TNNT2 TPM1
4 heart contraction GO:0060047 10.05 TNNI3 MYL2 ACTC1
5 cardiac muscle cell development GO:0055013 10.03 CAV3 MYH6 TCAP
6 positive regulation of ATP-dependent activity GO:0032781 10.03 TPM1 TNNT2 MYL3 MYBPC3
7 sarcomere organization GO:0045214 10.02 TPM1 TNNT2 TCAP MYH7 MYH6
8 cardiac muscle hypertrophy in response to stress GO:0014898 10.01 TCAP MYH7 MYH6
9 regulation of the force of heart contraction GO:0002026 10.01 MYL3 MYL2 MYH7 MYH6
10 adult heart development GO:0007512 10 TCAP MYH7 MYH6
11 cardiac myofibril assembly GO:0055003 9.99 ACTC1 MYL2 TCAP
12 cardiac muscle tissue morphogenesis GO:0055008 9.97 ACTC1 MYLK2 TCAP
13 cardiac muscle contraction GO:0060048 9.96 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2
14 regulation of striated muscle contraction GO:0006942 9.95 MYL3 MYL2 MYBPC3
15 muscle contraction GO:0006936 9.93 MYH6 MYH7 OXTR TNNI3 TNNT2 TPM1
16 cardiac muscle hypertrophy GO:0003300 9.92 TCAP CAV3
17 negative regulation of ATP-dependent activity GO:0032780 9.92 TNNT2 TNNI3
18 negative regulation of nitric-oxide synthase activity GO:0051001 9.91 GLA CAV3
19 detection of muscle stretch GO:0035995 9.91 TCAP CAV3
20 striated muscle contraction GO:0006941 9.91 MYH6 MYH7 MYLK2 TNNI3
21 skeletal muscle thin filament assembly GO:0030240 9.9 TCAP ACTC1
22 regulation of muscle filament sliding GO:0032971 9.87 MYLK2 MYBPC3
23 muscle filament sliding GO:0030049 9.86 TPM1 TNNT2 MYH7 MYH6
24 regulation of muscle contraction GO:0006937 9.85 TPM1 TNNT2 TNNI3
25 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.53 MYBPC3 MYH6 MYH7 MYL2 MYL3 TNNI3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 10.02 TPM1 TNNI3 MYH7B MYH7 MYH6
2 actin binding GO:0003779 9.9 MYBPC3 MYH6 MYH7 MYH7B TNNI3 TNNT2
3 myosin heavy chain binding GO:0032036 9.71 MYL2 MYBPC3
4 structural constituent of muscle GO:0008307 9.65 TPM1 TCAP MYL3 MYL2 MYBPC3
5 troponin C binding GO:0030172 9.56 TNNT2 TNNI3
6 cytoskeletal motor activity GO:0003774 9.54 MYH7B MYH7 MYH6
7 microfilament motor activity GO:0000146 9.28 TNNT2 MYH7B MYH7 MYH6 ACTC1

Sources for Cardiomyopathy, Familial Hypertrophic, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....