MCID: HYP061
MIFTS: 69

Hypertrophic Cardiomyopathy

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Hypertrophic Cardiomyopathy:

Name: Hypertrophic Cardiomyopathy 11 24 75 28 5 14 36 16 71 33
Hypertrophic Obstructive Cardiomyopathy 11 33
Cardiomyopathy, Hypertrophic 43 38
Obstructive Idiopathic Hypertrophic Cardiomyopathy 33
Hypertrophic Obstructive Subaortic Stenosis 33
Idiopathic Hypertrophic Subaortic Stenosis 33
Cardiomyopathy Hypertrophic Obstructive 53
Cardiomyopathy, Hypertrophic, Familial 71
Idiopathic Hypertrophic Cardiomyopathy 33
Idiopathic Myocardial Hypertrophy 33
Muscular Subaortic Stenosis 33
Obstructive Cardiomyopathy 33

Classifications:



External Ids:

Disease Ontology 11 DOID:11984
ICD9CM 34 425.1
MeSH 43 D002312
NCIt 49 C34449
SNOMED-CT 68 389998005
ICD10 31 I42.1
UMLS 71 C0007194 C0949658

Summaries for Hypertrophic Cardiomyopathy

Disease Ontology: 11 An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.

MalaCards based summary: Hypertrophic Cardiomyopathy, also known as hypertrophic obstructive cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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 muscle and normal

Wikipedia: 75 Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes... more...

GeneReviews: NBK1768

Related Diseases for Hypertrophic Cardiomyopathy

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 Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 993)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 35.1 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
2 cardiomyopathy, familial hypertrophic, 4 33.6 TTN TPM1 PRKAG2 MYH7 MYBPC3
3 dilated cardiomyopathy 33.5 TTN TPM1 TNNT2 TNNI3 TNNC1 SLC25A4
4 danon disease 33.4 TNNT2 PRKAG2 MYL3 MYH7 MYBPC3 LAMP2
5 cardiomyopathy, familial hypertrophic, 10 33.3 MYL2 LOC114827850
6 cardiomyopathy, familial hypertrophic, 11 33.2 GJD2-DT ACTC1
7 noonan syndrome 1 33.2 PTPN11 PRKAG2 MYH7 MYBPC3 ACTC1
8 cardiomyopathy, familial hypertrophic, 18 33.1 PLN CEP85L
9 noonan syndrome with multiple lentigines 33.1 TNNT2 PTPN11 MYH7 MYBPC3
10 cardiomyopathy, familial hypertrophic, 25 33.1 TPM1 MYBPC3
11 barth syndrome 33.0 TTN TNNT2 MYH7 MYBPC3 ACTC1
12 cardiac conduction defect 32.9 MYH7 MYBPC3 CEP85L
13 heart disease 32.8 TTN TNNT2 TNNI3 PTPN11 PLN MYL2
14 restrictive cardiomyopathy 32.7 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
15 mitochondrial dna depletion syndrome 12b 32.7 TTN SLC25A4 PRKAG2 MYH7 MYBPC3
16 myopathy 32.7 TTN TPM1 TNNT2 TNNI3 SLC25A4 MYL2
17 left ventricular noncompaction 32.7 TTN TPM1 TNNT2 TNNI3 PTPN11 PRKAG2
18 mitral valve insufficiency 32.7 TTN TNNT2 TNNI3 MYH7 MYBPC3
19 congestive heart failure 32.5 TTN TNNT2 TNNI3 PLN MYH7 MYBPC3
20 rasopathy 32.5 TTN TPM1 TNNT2 TNNI3 PTPN11 PRKAG2
21 cardiac arrest 32.4 TNNT2 TNNI3 PLN MYH7 CEP85L
22 wolff-parkinson-white syndrome 32.4 TTN TNNT2 PRKAG2 MYH7 MYBPC3 MHRT
23 lipoprotein quantitative trait locus 32.4 TTN TNNT2 TNNI3 MYH7 MYBPC3
24 aortic valve disease 2 32.3 TTN TNNT2 TNNI3 MYH7 MYBPC3
25 brugada syndrome 32.3 TTN TPM1 TNNT2 TNNI3 PRKAG2 PLN
26 fabry disease 32.2 TNNI3 PRKAG2 LAMP2 GLA
27 long qt syndrome 32.2 TTN TNNT2 TNNI3 PRKAG2 MYL3 MYL2
28 arrhythmogenic right ventricular cardiomyopathy 32.1 TTN TPM1 TNNT2 TNNI3 PLN MYL3
29 atrial standstill 1 32.1 PRKAG2 MYH7 MYBPC3 LAMP2
30 hypertensive heart disease 32.1 TTN TNNT2 TNNI3 MYH7
31 atrioventricular block 32.1 TNNT2 TNNI3 PRKAG2
32 third-degree atrioventricular block 32.0 TTN TNNI3 PRKAG2
33 heart septal defect 32.0 TNNT2 PTPN11 MYH7 ACTC1
34 atrial heart septal defect 32.0 TTN TNNT2 TNNI3 PTPN11 MYH7 MYBPC3
35 myocarditis 31.9 TTN TNNT2 TNNI3 MYH7
36 left bundle branch hemiblock 31.9 TTN TNNT2 TNNI3 MYBPC3
37 tetralogy of fallot 31.9 TTN TPM1 TNNT2 TNNI3 PTPN11 MYL3
38 muscular dystrophy 31.8 TTN TNNT2 TNNI3 SLC25A4 MYH7
39 heart valve disease 31.7 TTN TNNT2 TNNI3 MYH7 MYBPC3
40 systolic heart failure 31.6 TTN TNNT2 TNNI3 MYH7 MYBPC3
41 patent ductus arteriosus 1 31.6 TTN TNNT2 PTPN11 MYH7 MYBPC3 ACTC1
42 diastolic heart failure 31.6 TTN TNNT2 TNNI3 MYBPC3
43 acute myocardial infarction 31.6 TNNT2 TNNI3 MYL3 MHRT
44 cardiomyopathy, dilated, 1e 31.6 TTN TPM1 TNNC1 MYL2 MYH7 MHRT
45 amyloidosis, hereditary, transthyretin-related 31.5 TNNT2 MYBPC3 GLA
46 mitral valve disease 31.5 TTN TNNT2 TNNI3 MYH7 MYBPC3
47 tricuspid valve insufficiency 31.5 TNNT2 TNNI3 PTPN11
48 myopathy, distal, 1 31.5 TTN MYL3 MYL2 MYH7 MYBPC3 MHRT
49 patent foramen ovale 31.4 TTN TNNT2 TNNI3 PTPN11 MYH7 MYBPC3
50 constrictive pericarditis 31.3 TTN TNNT2 TNNI3 MYBPC3

Comorbidity relations with Hypertrophic Cardiomyopathy via Phenotypic Disease Network (PDN): (show all 14)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Bronchitis
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Mitral Valve Disease
Respiratory Failure Sinoatrial Node Disease

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



Diseases related to Hypertrophic Cardiomyopathy

Symptoms & Phenotypes for Hypertrophic Cardiomyopathy

MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10 ACTC1 GLA LAMP2 MYBPC3 MYH7 MYL2
2 normal MP:0002873 9.86 ACTC1 MYH7 MYL2 PTPN11 SLC25A4 TNNT2
3 growth/size/body region MP:0005378 9.8 ACTC1 CEP85L GLA LAMP2 MYBPC3 MYL2
4 cardiovascular system MP:0005385 9.5 ACTC1 GLA LAMP2 MYBPC3 MYH7 MYL2

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

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

(show top 50) (show all 104)
# 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
Esmolol Approved, Withdrawn Phase 4 103598-03-4, 81147-92-4 59768
8
Dobutamine Approved Phase 4 34368-04-2 36811
9
Adenosine Approved, Investigational Phase 4 58-61-7 60961
10
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
11 Hormone Antagonists Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Mineralocorticoids Phase 4
14 Mineralocorticoid Receptor Antagonists Phase 4
15 Sodium Channel Blockers Phase 4
16 Adrenergic beta-Antagonists Phase 4
17 Adrenergic beta-1 Receptor Antagonists Phase 4
18 Adrenergic Antagonists Phase 4
19 Antihypertensive Agents Phase 4
20 Sympatholytics Phase 4
21 Cardioplegic Solutions Phase 4
22 Pharmaceutical Solutions Phase 4
23 Anesthetics Phase 4
24 Adrenergic Agents Phase 4
25 Cardiotonic Agents Phase 4
26 Adrenergic beta-Agonists Phase 4
27 Adrenergic Agonists Phase 4
28 Sympathomimetics Phase 4
29 Protective Agents Phase 4
30 Neurotransmitter Agents Phase 4
31 Anti-Arrhythmia Agents Phase 4
32 Vasodilator Agents Phase 4
33 Analgesics Phase 4
34
Valsartan Approved, Investigational Phase 2, Phase 3 137862-53-4 60846
35
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
36
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
37
Atorvastatin Approved Phase 3 134523-00-5 60823
38
Acetylsalicylic acid Approved, Vet_approved Phase 3 50-78-2 2244
39
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
40
Angiotensinogen Phase 2, Phase 3 16133225
41 Angiotensin Receptor Antagonists Phase 2, Phase 3
42 Angiotensin II Type 1 Receptor Blockers Phase 2, Phase 3
43 Giapreza Phase 2, Phase 3
44 Sacubitril and valsartan sodium hydrate drug combination Phase 2, Phase 3
45 Antimetabolites Phase 3
46 Hypolipidemic Agents Phase 3
47 Anticholesteremic Agents Phase 3
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
49 Lipid Regulating Agents Phase 3
50 Anti-Inflammatory Agents, Non-Steroidal Phase 3

Interventional clinical trials:

(show top 50) (show all 203)
# 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 Myocardial Protection With Esmolol in Patients With Hypertrophic Obstructive Cardiomyopathy Undergoing Surgery Under Cardiopulmonary Bypass Recruiting NCT05073094 Phase 4 Esmolol;Placebo
8 Quantitative Assessment of Hypertrophic Obstructive Cardiomyopathy With Intraoperative Three-dimensional Transesophageal Echocardiography Under Provocative Dobutamine Stress Test Not yet recruiting NCT05025644 Phase 4 Pre and post-CPB Drug: Dobutamine Hydrochloride;Post-CPB Drug: Dobutamine Hydrochloride
9 The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis Suspended NCT01375335 Phase 4 Dobutamine
10 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
11 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
12 Sinus Rhythm Maintenance in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation - Randomized Comparison of Antiarrhythmic Therapy vs. Radiofrequency Catheter Ablation (SHAARC) Completed NCT00821353 Phase 3 Antiarrhythmic drugs
13 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
14 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
15 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
16 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
17 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
18 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
19 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
20 Mobilization of Endothelial Progenitor Cells Following Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: Randomized Controlled Trial of Aspirin Recruiting NCT02674958 Phase 3 Aspirin
21 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
22 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
23 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
24 The Use of Empagliflozin in Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT05182658 Phase 3 Empagliflozin 10 MG;Placebo
25 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
26 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
27 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
28 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Unknown status NCT01332162 Phase 2
29 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
30 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
31 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
32 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
33 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
34 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
35 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
36 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
37 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
38 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
39 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
40 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
41 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
42 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Completed NCT01912534 Phase 2 Valsartan;Placebo
43 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
44 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
45 Double Blind Placebo Controlled Study of Cyclosporin A in Patients With Left Ventricular Hypertrophy Caused by Sarcomeric Gene Mutations Completed NCT00001965 Phase 2 Cyclosporine A
46 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
47 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
48 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
49 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
50 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

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Cochrane evidence based reviews: cardiomyopathy, hypertrophic

Genetic Tests for Hypertrophic Cardiomyopathy

Genetic tests related to Hypertrophic Cardiomyopathy:

# Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy 28

Anatomical Context for Hypertrophic Cardiomyopathy

Organs/tissues related to Hypertrophic Cardiomyopathy:

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

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 18118)
# Title Authors PMID Year
1
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. 62 24 5
32731933 2020
2
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 62 24 5
30297972 2018
3
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. 62 24 5
29030401 2017
4
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 62 24 5
28790153 2017
5
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 62 24 5
26846950 2016
6
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 62 24 5
25611685 2015
7
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 62 24 5
24793961 2014
8
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. 62 24 5
22068435 2011
9
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 62 24 5
12081993 2002
10
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 62 24 5
11815426 2002
11
First description of germline mosaicism in familial hypertrophic cardiomyopathy. 62 24 5
10662815 2000
12
From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene. 53 62 5
19219553 2008
13
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree. 62 5
35508642 2022
14
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant. 62 5
33642254 2022
15
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation. 62 5
33782553 2021
16
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients. 62 5
33673806 2021
17
Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing. 62 5
32894683 2020
18
Genetic, clinical, molecular, and pathogenic aspects of the South Asian-specific polymorphic MYBPC3Δ25bp variant. 62 5
32656747 2020
19
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy. 62 5
32380161 2020
20
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. 62 5
32163302 2020
21
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy. 62 5
32396390 2020
22
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq. 62 5
32344918 2020
23
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. 62 5
31513939 2020
24
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. 62 5
31730716 2020
25
Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders. 62 5
31737537 2019
26
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives. 62 5
31006259 2019
27
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy. 62 5
31110529 2019
28
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. 62 5
30775854 2019
29
Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? 62 5
30385303 2019
30
The HCM-causing Y235S cMyBPC mutation accelerates contractile function by altering C1 domain structure. 62 5
30611859 2019
31
Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant. 62 5
29631964 2019
32
MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy. 62 5
30550750 2019
33
A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. 62 5
30586709 2019
34
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. 62 5
30645170 2019
35
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. 62 5
31199839 2019
36
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction. 62 5
30206291 2018
37
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]. 62 5
30462978 2018
38
Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series. 62 5
30282064 2018
39
Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition. 62 5
30275503 2018
40
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. 62 5
29907873 2018
41
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. 62 5
29497013 2018
42
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. 62 5
30165862 2018
43
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. 62 5
30025578 2018
44
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 62 5
30022097 2018
45
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). 62 5
29709087 2018
46
Dilated cardiomyopathy myosin mutants have reduced force-generating capacity. 62 5
29666183 2018
47
Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events. 62 5
29710196 2018
48
Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy. 62 5
29661763 2018
49
Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers. 62 5
28687478 2018
50
Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. 62 5
29343710 2018

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

5 (show top 50) (show all 7149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic
221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
2 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic
221553 rs768643552 GRCh37: 9:139313082-139313082
GRCh38: 9:136418630-136418630
3 NDUFA13 NM_015965.7(NDUFA13):c.194del (p.Phe65fs) DEL Pathogenic
983476 rs2061105702 GRCh37: 19:19638109-19638109
GRCh38: 19:19527300-19527300
4 NDUFA13 NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) SNV Pathogenic
983478 rs2061098856 GRCh37: 19:19637003-19637003
GRCh38: 19:19526194-19526194
5 TRIM63 NM_032588.4(TRIM63):c.390C>G (p.Ile130Met) SNV Pathogenic
978746 rs377334933 GRCh37: 1:26387768-26387768
GRCh38: 1:26061277-26061277
6 LAMP2 NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) SNV Pathogenic
163812 rs727503118 GRCh37: X:119576505-119576505
GRCh38: X:120442650-120442650
7 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Pathogenic
18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
8 TRIM63 NM_032588.4(TRIM63):c.481_482del (p.Ser161fs) MICROSAT Pathogenic
985254 rs540072010 GRCh37: 1:26387676-26387677
GRCh38: 1:26061185-26061186
9 ACTN2 NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) SNV Pathogenic
162727 rs727502886 GRCh37: 1:236882307-236882307
GRCh38: 1:236719007-236719007
10 LAMP2 NM_002294.3(LAMP2):c.183+1G>A SNV Pathogenic
163816 rs727503120 GRCh37: X:119590505-119590505
GRCh38: X:120456650-120456650
11 MYL3 NM_000258.3(MYL3):c.445A>G (p.Met149Val) SNV Pathogenic
14061 rs104893748 GRCh37: 3:46901001-46901001
GRCh38: 3:46859511-46859511
12 MYBPC3 NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) SNV Pathogenic
42650 rs397515982 GRCh37: 11:47357495-47357495
GRCh38: 11:47335944-47335944
13 MYBPC3 NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) DUP Pathogenic
42619 rs397515963 GRCh37: 11:47359281-47359281
GRCh38: 11:47337729-47337730
14 MYBPC3 NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) SNV Pathogenic
216055 rs863224483 GRCh37: 11:47361204-47361204
GRCh38: 11:47339653-47339653
15 MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) DUP Pathogenic
177698 rs730880336 GRCh37: 11:47367806-47367810
GRCh38: 11:47346254-47346255
16 MYBPC3 NM_000256.3(MYBPC3):c.1090+1G>T SNV Pathogenic
177686 rs727504269 GRCh37: 11:47367757-47367757
GRCh38: 11:47346206-47346206
17 MYBPC3 NM_000256.3(MYBPC3):c.2163del (p.Glu722fs) DEL Pathogenic
42602 rs397515952 GRCh37: 11:47360216-47360216
GRCh38: 11:47338665-47338665
18 MYBPC3 NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) SNV Pathogenic
179435 rs727504864 GRCh37: 11:47359263-47359263
GRCh38: 11:47337712-47337712
19 MYBPC3 NM_000256.3(MYBPC3):c.2737+1G>C SNV Pathogenic
177766 rs727504314 GRCh37: 11:47357427-47357427
GRCh38: 11:47335876-47335876
20 MYBPC3 NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) DEL Pathogenic
42677 rs397515997 GRCh37: 11:47355258-47355258
GRCh38: 11:47333707-47333707
21 MYBPC3 NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs) DEL Pathogenic
164049 rs727503175 GRCh37: 11:47355197-47355209
GRCh38: 11:47333646-47333658
22 MYBPC3 NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) DEL Pathogenic
177784 rs727504321 GRCh37: 11:47354378-47354379
GRCh38: 11:47332827-47332828
23 MYBPC3 NM_000256.3(MYBPC3):c.3490+1G>A SNV Pathogenic
42715 rs397516020 GRCh37: 11:47354364-47354364
GRCh38: 11:47332813-47332813
24 MYBPC3 NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) DEL Pathogenic
177670 rs727504271 GRCh37: 11:47354135-47354144
GRCh38: 11:47332584-47332593
25 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic
12414 rs74315379 GRCh37: 1:201333464-201333464
GRCh38: 1:201364336-201364336
26 MYBPC3 NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) DEL Pathogenic
228371 rs876657706 GRCh37: 11:47354232-47354232
GRCh38: 11:47332681-47332681
27 MYBPC3 NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter) SNV Pathogenic
228367 rs876657702 GRCh37: 11:47367773-47367773
GRCh38: 11:47346222-47346222
28 MYBPC3 NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) SNV Pathogenic
181015 rs730880597 GRCh37: 11:47353796-47353796
GRCh38: 11:47332245-47332245
29 MYBPC3 NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) SNV Pathogenic
181132 rs730880698 GRCh37: 11:47372845-47372845
GRCh38: 11:47351294-47351294
30 MYBPC3 NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del DEL Pathogenic
228366 GRCh37: 11:47354117-47355561
GRCh38: 11:47332566-47334010
31 MYBPC3 NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) DUP Pathogenic
42597 rs397515948 GRCh37: 11:47360909-47360910
GRCh38: 11:47339358-47339359
32 MYBPC3 NM_000256.3(MYBPC3):c.162del (p.Lys54fs) DEL Pathogenic
219730 rs864622224 GRCh37: 11:47372920-47372920
GRCh38: 11:47351369-47351369
33 MYBPC3 NM_000256.3(MYBPC3):c.1091-?_2308+?del DEL Pathogenic
219725 GRCh37:
GRCh38:
34 MYH7 NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) SNV Pathogenic
42885 rs121913630 GRCh37: 14:23895023-23895023
GRCh38: 14:23425814-23425814
35 MYBPC3 NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) SNV Pathogenic
177796 rs727504329 GRCh37: 11:47365056-47365056
GRCh38: 11:47343505-47343505
36 MYBPC3 NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) DEL Pathogenic
181114 rs730880686 GRCh37: 11:47367820-47367820
GRCh38: 11:47346269-47346269
37 MYBPC3 NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) DEL Pathogenic
42727 rs397516029 GRCh37: 11:47354120-47354120
GRCh38: 11:47332569-47332569
38 MYH7 NM_000257.4(MYH7):c.761C>A (p.Ala254Glu) SNV Pathogenic
237444 rs878853842 GRCh37: 14:23900662-23900662
GRCh38: 14:23431453-23431453
39 MYBPC3 NM_000256.3(MYBPC3):c.2308+1G>T SNV Pathogenic
42611 rs112738974 GRCh37: 11:47360070-47360070
GRCh38: 11:47338519-47338519
40 MYH7 NM_000257.4(MYH7):c.677C>T (p.Ala226Val) SNV Pathogenic
228918 rs876657887 GRCh37: 14:23900849-23900849
GRCh38: 14:23431640-23431640
41 MYBPC3 NM_000256.3(MYBPC3):c.2490dup (p.His831fs) DUP Pathogenic
42625 rs397515966 GRCh37: 11:47359053-47359054
GRCh38: 11:47337502-47337503
42 MYBPC3 NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) DEL Pathogenic
Pathogenic
42596 rs397515947 GRCh37: 11:47360927-47360927
GRCh38: 11:47339376-47339376
43 MYH7 NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) SNV Pathogenic
14105 rs121913638 GRCh37: 14:23895189-23895189
GRCh38: 14:23425980-23425980
44 MYBPC3 NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) DUP Pathogenic
177862 rs730880341 GRCh37: 11:47359259-47359260
GRCh38: 11:47337708-47337709
45 MYBPC3 NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) DEL Pathogenic
179821 rs727505152 GRCh37: 11:47364593-47364593
GRCh38: 11:47343042-47343042
46 MYBPC3 NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs) DUP Pathogenic
179527 rs730880361 GRCh37: 11:47353792-47353793
GRCh38: 11:47332241-47332242
47 MYBPC3 NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) SNV Pathogenic
177956 rs727504423 GRCh37: 11:47355514-47355514
GRCh38: 11:47333963-47333963
48 MYBPC3 NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) DUP Pathogenic
179709 rs730880366 GRCh37: 11:47371603-47371604
GRCh38: 11:47350052-47350053
49 MYBPC3 NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) DUP Pathogenic
179537 rs730880362 GRCh37: 11:47372866-47372867
GRCh38: 11:47351315-47351316
50 MYBPC3 NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs) DEL Pathogenic
177899 rs727504390 GRCh37: 11:47353746-47353747
GRCh38: 11:47332195-47332196

Expression for Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy.

Pathways for Hypertrophic Cardiomyopathy



Pathways directly related to Hypertrophic Cardiomyopathy:

# Pathway Source
1 Signaling by RAF1 mutants Reactome 66

Pathways related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 TTN TPM1 TNNT2 TNNI3 TNNC1 PLN
2
Show member pathways
12.23 MYL3 MYL2 MYH7 ACTC1
3 12.22 TPM1 TNNT2 TNNI3 ACTC1
4
Show member pathways
12.2 TNNT2 TNNI3 TNNC1 PTPN11 PLN
5 11.56 TNNT2 TNNI3 MYL3
6 11.18 ACTC1 MYL2 TNNI3 TNNT2
7 11.17 MYL3 MYL2 MYH7 ACTC1
8
Show member pathways
11.15 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
9 10.8 MYL2 MYH7

GO Terms for Hypertrophic Cardiomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 I band GO:0031674 9.88 TTN MYL3 ACTC1
2 A band GO:0031672 9.85 MYL3 MYL2 MYBPC3
3 myosin complex GO:0016459 9.83 MYL3 MYL2 MYH7
4 troponin complex GO:0005861 9.8 TNNT2 TNNI3 TNNC1
5 myofibril GO:0030016 9.73 MYH7 MYL2 TNNI3 TNNT2
6 striated muscle thin filament GO:0005865 9.63 TTN TNNT2
7 cardiac Troponin complex GO:1990584 9.63 TNNT2 TNNI3 TNNC1
8 cardiac myofibril GO:0097512 9.56 TNNT2 TNNI3 MYL2 MYBPC3
9 sarcomere GO:0030017 9.53 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
10 contractile fiber GO:0043292 9.48 TNNI3 TNNC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 10.07 TTN TPM1 TNNT2 TNNI3 MYH7
2 regulation of heart contraction GO:0008016 10.03 TPM1 TNNT2 PLN
3 sarcomere organization GO:0045214 10.03 TTN TPM1 TNNT2 MYH7
4 skeletal muscle contraction GO:0003009 10.02 TNNI3 TNNC1 MYH7
5 heart contraction GO:0060047 10.01 TNNI3 MYL2 ACTC1
6 cardiac myofibril assembly GO:0055003 9.97 TTN MYL2 ACTC1
7 negative regulation of ATP-dependent activity GO:0032780 9.95 TNNT2 TNNI3 PLN
8 muscle filament sliding GO:0030049 9.93 TPM1 TNNT2 MYH7
9 positive regulation of ATP-dependent activity GO:0032781 9.92 TPM1 TNNT2 MYL3 MYBPC3
10 striated muscle contraction GO:0006941 9.91 MYH7 TNNI3 TTN
11 cardiac muscle tissue morphogenesis GO:0055008 9.88 TTN ACTC1
12 transition between fast and slow fiber GO:0014883 9.88 TNNC1 MYH7
13 regulation of striated muscle contraction GO:0006942 9.88 MYBPC3 MYL2 MYL3
14 skeletal muscle thin filament assembly GO:0030240 9.87 TTN ACTC1
15 regulation of the force of heart contraction GO:0002026 9.86 PLN MYL3 MYL2 MYH7
16 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.86 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
17 regulation of muscle filament sliding speed GO:0032972 9.83 TNNT2 TNNC1
18 regulation of muscle contraction GO:0006937 9.63 TNNC1 TNNI3 TNNT2 TPM1
19 cardiac muscle contraction GO:0060048 9.58 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 10.06 TPM1 TNNT2 TNNI3 MYH7 MYBPC3
2 actin filament binding GO:0051015 9.85 TTN TPM1 TNNI3 TNNC1 MYH7
3 myosin heavy chain binding GO:0032036 9.73 MYL2 MYBPC3
4 microfilament motor activity GO:0000146 9.72 TNNT2 MYH7 ACTC1
5 troponin I binding GO:0031013 9.67 TNNT2 TNNC1
6 troponin T binding GO:0031014 9.56 TNNC1 TNNI3
7 structural constituent of muscle GO:0008307 9.32 TTN TPM1 MYL3 MYL2 MYBPC3
8 troponin C binding GO:0030172 9.26 TNNT2 TNNI3

Sources for Hypertrophic Cardiomyopathy

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
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