MCID: HYP061
MIFTS: 69

Hypertrophic Cardiomyopathy

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Hypertrophic Cardiomyopathy:

Name: Hypertrophic Cardiomyopathy 12 73 25 58 36 29 6 15 37 17 70
Cardiomyopathy, Hypertrophic, Familial 44 70
Cardiomyopathy, Hypertrophic 44 39
Hypertrophic Obstructive Cardiomyopathy 12
Cardiomyopathy Hypertrophic Obstructive 54
Familial Hypertrophic Cardiomyopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11984
KEGG 36 H00292
ICD9CM 34 425.1
SNOMED-CT 67 389998005 83978005
ICD10 32 I42.1
MESH via Orphanet 45 D002312
UMLS via Orphanet 71 C0007194
Orphanet 58 ORPHA217569
UMLS 70 C0007194 C0949658

Summaries for Hypertrophic Cardiomyopathy

KEGG : 36 Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.

MalaCards based summary : Hypertrophic Cardiomyopathy, also known as cardiomyopathy, hypertrophic, familial, is related to cardiomyopathy, familial hypertrophic, 1 and atrial standstill 1. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Hypertrophic cardiomyopathy and Cardiac conduction. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and endothelial, and related phenotypes are cardiovascular system and muscle

Disease Ontology : 12 An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.

Wikipedia : 73 Hypertrophic cardiomyopathy (HCM) is a condition in which the heart becomes thickened without an obvious... 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 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
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 808)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 34.9 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
2 atrial standstill 1 34.6 TTN TPM1 TNNT2 TNNI3 PRKAG2 PLN
3 cardiomyopathy, familial hypertrophic, 4 33.6 TTN TPM1 TNNT2 MYH7 MYBPC3
4 dilated cardiomyopathy 33.4 TTN TPM1 TNNT2 TNNI3 TNNC1 SLC25A4
5 cardiomyopathy, familial hypertrophic, 10 33.4 MYL2 LOC114827850
6 cardiomyopathy, familial hypertrophic, 13 33.2 TNNC1 GLA
7 cardiomyopathy, familial hypertrophic, 18 33.2 PLN CEP85L
8 danon disease 33.2 PRKAG2 MYH7 MYBPC3 LAMP2
9 cardiomyopathy, familial hypertrophic, 11 33.1 LOC101928174 ACTC1
10 left ventricular noncompaction 33.0 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
11 barth syndrome 33.0 TTN TNNT2 MYH7 MYBPC3 ACTC1
12 cardiac conduction defect 33.0 MYH7 MYBPC3 CEP85L
13 myopathy 32.9 TTN TRIM63 TPM1 TNNT2 TNNI3 SLC25A4
14 noonan syndrome with multiple lentigines 32.9 TNNT2 MYH7 MYBPC3
15 familial isolated dilated cardiomyopathy 32.8 TTN TPM1 TNNT2 TNNI3 TNNC1 PLN
16 restrictive cardiomyopathy 32.8 TTN TPM1 TNNT2 TNNI3 TNNC1 SLC25A4
17 mitochondrial dna depletion syndrome 12b 32.7 TTN SLC25A4 PRKAG2 MYH7 MYBPC3
18 heart disease 32.7 TTN TNNT2 TNNI3 PLN MYL3 MYH7
19 cardiac arrest 32.7 TTN TNNT2 TNNI3 PLN MYH7 MYBPC3
20 mitral valve insufficiency 32.7 TTN TNNT2 TNNI3 MYH7 MYBPC3
21 wolff-parkinson-white syndrome 32.5 TTN TNNT2 TNNI3 PRKAG2 MYH7 MYBPC3
22 congestive heart failure 32.5 TTN TNNT2 TNNI3 PLN MYH7
23 brugada syndrome 32.2 TTN TPM1 TNNT2 TNNI3 PRKAG2 PLN
24 atrioventricular block 32.2 TTN TNNI3 MYH7 MHRT
25 fabry disease 32.2 TNNI3 PRKAG2 LAMP2 GLA
26 rasopathy 32.2 TTN TNNT2 PRKAG2 MYL3 MYL2 MYH7
27 familial isolated restrictive cardiomyopathy 32.1 TNNT2 TNNI3 MYL2 LOC114827850
28 lipoprotein quantitative trait locus 32.1 TTN TNNT2 TNNI3 MYH7 MYBPC3 ACTC1
29 atrial heart septal defect 31.8 TTN TNNT2 TNNI3 MYH7 ACTC1
30 arrhythmogenic right ventricular cardiomyopathy 31.7 TTN PLN MYL2 MYH7
31 acute myocardial infarction 31.7 TNNT2 TNNI3 MYL3 MHRT
32 aortic valve disease 2 31.6 TTN TNNT2 TNNI3 MYH7 MYBPC3
33 left bundle branch hemiblock 31.6 TNNT2 TNNI3
34 tetralogy of fallot 31.6 TPM1 TNNT2 TNNI3 ACTC1
35 diastolic heart failure 31.5 TTN TNNI3 MYBPC3
36 cardiomyopathy, dilated, 1e 31.5 TTN TPM1 TNNC1 MYL2 MYH7
37 myopathy, distal, 1 31.3 TTN MYH7 MHRT
38 first-degree atrioventricular block 31.3 MYH7 MHRT
39 cardiomyopathy, dilated, 1r 31.2 LOC101928174 ACTC1
40 constrictive pericarditis 31.1 TTN TNNI3
41 patent foramen ovale 31.1 TNNT2 TNNI3 MYL3 ACTC1
42 cardiomyopathy, dilated, 1m 31.0 TNNI3 MYL2
43 ebstein anomaly 30.9 TPM1 TNNT2 MYH7 MYBPC3 ACTC1
44 cardiomyopathy, dilated, 1b 30.9 TTN TNNT2 MYH7 MYBPC3 MHRT
45 hyaline body myopathy 30.9 TTN MYH7
46 mobitz type ii atrioventricular block 30.8 TNNT2 MYH7 ACTC1
47 silent myocardial infarction 30.7 TNNT2 TNNI3
48 scapuloperoneal myopathy 30.5 MYH7 MHRT
49 sengers syndrome 11.7
50 deafness, autosomal dominant 22 11.6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 ACTC1 GLA LAMP2 MYBPC3 MYH7 MYL2
2 muscle MP:0005369 9.44 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 99)
# 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 Hormones Phase 4
10 Mineralocorticoids Phase 4
11 Hormone Antagonists Phase 4
12 diuretics Phase 4
13 Mineralocorticoid Receptor Antagonists Phase 4
14 Sodium Channel Blockers Phase 4
15 Diuretics, Potassium Sparing Phase 4
16 Antihypertensive Agents Phase 4
17 Adrenergic Antagonists Phase 4
18 Sympatholytics Phase 4
19 Adrenergic beta-Antagonists Phase 4
20 Adrenergic beta-1 Receptor Antagonists Phase 4
21 Adrenergic Agents Phase 4
22 Protective Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic beta-Agonists Phase 4
25 Cardiotonic Agents Phase 4
26 Sympathomimetics Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Neurotransmitter Agents Phase 4
29 Analgesics Phase 4
30
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
31
Atorvastatin Approved Phase 3 134523-00-5 60823
32
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
33
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
34 Anticholesteremic Agents Phase 3
35 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
36 Antimetabolites Phase 3
37 Lipid Regulating Agents Phase 3
38 Hypolipidemic Agents Phase 3
39 Analgesics, Non-Narcotic Phase 3
40 Antirheumatic Agents Phase 3
41 Fibrinolytic Agents Phase 3
42 Cyclooxygenase Inhibitors Phase 3
43 Anti-Inflammatory Agents Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Antipyretics Phase 3
46 Platelet Aggregation Inhibitors Phase 3
47
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
48
Trimetazidine Approved, Investigational Phase 2 5011-34-7
49
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
50
Losartan Approved Phase 2 114798-26-4 3961

Interventional clinical trials:

(show top 50) (show all 181)
# 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 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
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 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
7 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
8 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
9 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
10 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
11 A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Completed NCT03470545 Phase 3 mavacamten;Placebo
12 Sinus Rhythm Maintenance in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation - Randomized Comparison of Antiarrhythmic Therapy vs. Radiofrequency Catheter Ablation (SHAARC) Completed NCT00821353 Phase 3 Antiarrhythmic drugs
13 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
14 Mobilization of Endothelial Progenitor Cells Following Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: Randomized Controlled Trial of Aspirin Recruiting NCT02674958 Phase 3 Aspirin
15 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
16 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
17 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
18 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Unknown status NCT01332162 Phase 2
19 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
20 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
21 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
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 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
24 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
25 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
26 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
27 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
28 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
29 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
30 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
31 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
32 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Completed NCT01912534 Phase 2 Valsartan;Placebo
33 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
34 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
35 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
46 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
47 Diastolic Ventricular Interaction and the Effects Of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
48 Obstructive Hypertrophic Cardiomyopathy (HCM) in Children: Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy Completed NCT00001396 Phase 1
49 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
50 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

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 29

Anatomical Context for Hypertrophic Cardiomyopathy

MalaCards organs/tissues related to Hypertrophic Cardiomyopathy:

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

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 14193)
# Title Authors PMID Year
1
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. 6 61 25
29030401 2017
2
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 25 61 6
28790153 2017
3
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 25 6 61
26846950 2016
4
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 6 25 61
25611685 2015
5
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 61 6 25
24793961 2014
6
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 6 25 61
12081993 2002
7
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 25 6 61
11815426 2002
8
First description of germline mosaicism in familial hypertrophic cardiomyopathy. 61 6 25
10662815 2000
9
From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene. 61 54 6
19219553 2008
10
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. 61 6
31513939 2020
11
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. 6 61
31730716 2020
12
β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity. 6 61
31213605 2019
13
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy. 6 61
31110529 2019
14
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. 6 61
31199839 2019
15
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. 61 6
30645170 2019
16
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. 6 61
30674652 2019
17
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction. 6 61
30206291 2018
18
Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series. 61 6
30282064 2018
19
Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition. 6 61
30275503 2018
20
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. 6 61
29907873 2018
21
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. 61 6
30165862 2018
22
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. 6 61
29497013 2018
23
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 61 6
30022097 2018
24
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. 6 61
30025578 2018
25
Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events. 6 61
29710196 2018
26
Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy. 61 6
29661763 2018
27
Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers. 61 6
28687478 2018
28
Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. 6 61
29343710 2018
29
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. 61 6
28640247 2018
30
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy. 6 61
28971120 2017
31
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation. 61 6
28986452 2017
32
Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region. 6 61
28973951 2017
33
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 61 6
29018006 2017
34
Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. 6 61
28699631 2017
35
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. 61 6
29101517 2017
36
[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy]. 6 61
28777849 2017
37
Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death. 6 61
28073646 2017
38
Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models. 61 6
28735292 2017
39
Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap. 6 61
28603979 2017
40
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. 6 61
28498465 2017
41
Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy. 61 6
28614222 2017
42
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. 61 6
27885498 2017
43
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 6 61
28615295 2017
44
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 61 6
28420666 2017
45
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. 61 6
28241245 2017
46
Uncomplicated Pregnancy in a Patient Treated With Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy. 61 6
28024942 2017
47
Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy. 61 6
28538763 2017
48
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. 61 6
28082092 2017
49
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 6 61
28408708 2017
50
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 6 61
28356264 2017

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6 (show top 50) (show all 4410)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC3 NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter) SNV Pathogenic 1027653 GRCh37: 11:47360891-47360891
GRCh38: 11:47339340-47339340
2 MYBPC3 NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) SNV Pathogenic 42774 rs397516061 GRCh37: 11:47371366-47371366
GRCh38: 11:47349815-47349815
3 PRKAG2 NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) SNV Pathogenic 6852 rs121908991 GRCh37: 7:151257696-151257696
GRCh38: 7:151560610-151560610
4 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
5 MYH7 NM_000257.4(MYH7):c.1358G>A (p.Arg453His) SNV Pathogenic 42838 rs397516101 GRCh37: 14:23898213-23898213
GRCh38: 14:23429004-23429004
6 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 GRCh37: 14:23893268-23893268
GRCh38: 14:23424059-23424059
7 MYH7 NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) SNV Pathogenic 42922 rs397516161 GRCh37: 14:23893357-23893357
GRCh38: 14:23424148-23424148
8 MYBPC3 NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) Duplication Pathogenic 42693 rs397516007 GRCh37: 11:47354883-47354883
GRCh38: 11:47333331-47333332
9 MYBPC3 NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) Duplication Pathogenic 42619 rs397515963 GRCh37: 11:47359281-47359281
GRCh38: 11:47337729-47337730
10 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic 8608 rs121909374 GRCh37: 11:47364129-47364129
GRCh38: 11:47342578-47342578
11 MYH7 NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) SNV Pathogenic 14087 rs121913624 GRCh37: 14:23898487-23898487
GRCh38: 14:23429278-23429278
12 MYBPC3 NM_000256.3(MYBPC3):c.906-36G>A SNV Pathogenic 219660 rs864622197 GRCh37: 11:47368616-47368616
GRCh38: 11:47347065-47347065
13 MYH7 NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) SNV Pathogenic 42885 rs121913630 GRCh37: 14:23895023-23895023
GRCh38: 14:23425814-23425814
14 MYH7 NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) SNV Pathogenic 14089 rs121913625 GRCh37: 14:23898214-23898214
GRCh38: 14:23429005-23429005
15 MYBPC3 NM_000256.3(MYBPC3):c.1928-2A>G SNV Pathogenic 42585 rs397515937 GRCh37: 11:47361343-47361343
GRCh38: 11:47339792-47339792
16 MYH7 NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) SNV Pathogenic 14105 rs121913638 GRCh37: 14:23895189-23895189
GRCh38: 14:23425980-23425980
17 MYH7 NM_000257.4(MYH7):c.2609G>A (p.Arg870His) SNV Pathogenic 14120 rs36211715 GRCh37: 14:23894048-23894048
GRCh38: 14:23424839-23424839
18 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 GRCh37: 14:23898488-23898488
GRCh38: 14:23429279-23429279
19 MYH7 NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) SNV Pathogenic 14097 rs121913631 GRCh37: 14:23893316-23893316
GRCh38: 14:23424107-23424107
20 MYH7 NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) SNV Pathogenic 14095 rs121913630 GRCh37: 14:23895023-23895023
GRCh38: 14:23425814-23425814
21 MYH7 NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) SNV Pathogenic 14107 rs121913641 GRCh37: 14:23895179-23895179
GRCh38: 14:23425970-23425970
22 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 GRCh37: 14:23893321-23893321
GRCh38: 14:23424112-23424112
23 MYH7 NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) SNV Pathogenic 164342 rs727503261 GRCh37: 14:23894983-23894983
GRCh38: 14:23425774-23425774
24 MYH7 NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) SNV Pathogenic 14090 rs121913626 GRCh37: 14:23896932-23896932
GRCh38: 14:23427723-23427723
25 MYH7 NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) SNV Pathogenic 14098 rs121913632 GRCh37: 14:23894969-23894969
GRCh38: 14:23425760-23425760
26 MYH7 NM_000257.4(MYH7):c.1816G>A (p.Val606Met) SNV Pathogenic 14091 rs121913627 GRCh37: 14:23896866-23896866
GRCh38: 14:23427657-23427657
27 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
28 MYBPC3 NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) SNV Pathogenic 164136 rs727503211 GRCh37: 11:47367882-47367882
GRCh38: 11:47346331-47346331
29 MYH7 , MHRT NM_000257.4(MYH7):c.4844_4846AGA[2] (p.Lys1617del) Microsatellite Pathogenic 190401 rs121913648 GRCh37: 14:23885314-23885316
GRCh38: 14:23416105-23416107
30 MYH7 NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) SNV Pathogenic 454354 rs121913634 GRCh37: 14:23894581-23894581
GRCh38: 14:23425372-23425372
31 MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) SNV Pathogenic 42822 rs397516089 GRCh37: 14:23899016-23899016
GRCh38: 14:23429807-23429807
32 MYBPC3 NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) SNV Pathogenic 36611 rs193922383 GRCh37: 11:47354447-47354447
GRCh38: 11:47332896-47332896
33 MYH7 NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) SNV Pathogenic 164294 rs727503246 GRCh37: 14:23887522-23887522
GRCh38: 14:23418313-23418313
34 MYH7 NM_000257.4(MYH7):c.2609G>A (p.Arg870His) SNV Pathogenic 14120 rs36211715 GRCh37: 14:23894048-23894048
GRCh38: 14:23424839-23424839
35 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
36 MYBPC3 NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) SNV Pathogenic 8616 rs121909377 GRCh37: 11:47354789-47354789
GRCh38: 11:47333238-47333238
37 MYH7 , MHRT NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) Microsatellite Pathogenic 42096 rs367543052 GRCh37: 14:23884685-23884687
GRCh38: 14:23415476-23415478
38 MYH7 NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) SNV Pathogenic 177665 rs121913632 GRCh37: 14:23894969-23894969
GRCh38: 14:23425760-23425760
39 TPM1 NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) SNV Pathogenic 43420 rs397516373 GRCh37: 15:63351862-63351862
GRCh38: 15:63059663-63059663
40 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Pathogenic 43069 rs397516248 GRCh37: 14:23884362-23884362
GRCh38: 14:23415153-23415153
41 MYH7 NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) SNV Pathogenic 43106 rs397516269 GRCh37: 14:23900635-23900635
GRCh38: 14:23431426-23431426
42 MYH7 , MHRT NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) SNV Pathogenic 14115 rs121913647 GRCh37: 14:23886382-23886382
GRCh38: 14:23417173-23417173
43 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.644A>G (p.Asn215Ser) SNV Pathogenic 10730 rs28935197 GRCh37: X:100653930-100653930
GRCh38: X:101398942-101398942
44 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.640-801G>A SNV Pathogenic 10768 rs199473684 GRCh37: X:100654735-100654735
GRCh38: X:101399747-101399747
45 MYH7 NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) SNV Pathogenic 14104 rs121913637 GRCh37: 14:23895180-23895180
GRCh38: 14:23425971-23425971
46 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
47 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) SNV Pathogenic 14123 rs121913654 GRCh37: 14:23884385-23884385
GRCh38: 14:23415176-23415176
48 MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) SNV Pathogenic 42910 rs397516153 GRCh37: 14:23894144-23894144
GRCh38: 14:23424935-23424935
49 MYH7 NM_000257.4(MYH7):c.761C>A (p.Ala254Glu) SNV Pathogenic 237444 rs878853842 GRCh37: 14:23900662-23900662
GRCh38: 14:23431453-23431453
50 MYH7 NM_000257.4(MYH7):c.677C>T (p.Ala226Val) SNV Pathogenic 228918 rs876657887 GRCh37: 14:23900849-23900849
GRCh38: 14:23431640-23431640

Expression for Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy.

Pathways for Hypertrophic Cardiomyopathy

Pathways related to Hypertrophic Cardiomyopathy according to KEGG:

36
# Name Kegg Source Accession
1 Hypertrophic cardiomyopathy hsa05410

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 TTN TPM1 TNNT2 TNNI3 TNNC1 PLN
2
Show member pathways
12.46 TPM1 TNNT2 TNNI3 TNNC1 SLC25A4 PLN
3
Show member pathways
12.29 MYL3 MYL2 MYH7 ACTC1
4 12.27 TPM1 TNNT2 TNNI3 ACTC1
5 11.82 PRKAG2 MYL3 MYL2
6 11.7 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
7
Show member pathways
11.67 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
8 11.61 TNNT2 TNNI3 MYL3
9 11.47 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
10 11.39 TNNT2 TNNI3 MYL2 ACTC1
11 11.25 MYL3 MYL2 MYH7 ACTC1
12 10.84 MYL2 MYH7

GO Terms for Hypertrophic Cardiomyopathy

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.7 TTN TRIM63 MYH7
2 myosin complex GO:0016459 9.63 MYL3 MYL2 MYH7
3 I band GO:0031674 9.61 TTN MYL3 ACTC1
4 contractile fiber GO:0043292 9.58 TRIM63 TNNI3 TNNC1
5 myofibril GO:0030016 9.56 TNNT2 TNNI3 MYL2 MYH7
6 A band GO:0031672 9.54 MYL3 MYL2 MYBPC3
7 myosin filament GO:0032982 9.51 MYH7 MYBPC3
8 troponin complex GO:0005861 9.5 TNNT2 TNNI3 TNNC1
9 muscle myosin complex GO:0005859 9.49 MYL3 MYH7
10 striated muscle thin filament GO:0005865 9.48 TTN TNNT2
11 cardiac Troponin complex GO:1990584 9.33 TNNT2 TNNI3 TNNC1
12 cardiac myofibril GO:0097512 9.26 TNNT2 TNNI3 MYL2 MYBPC3
13 sarcomere GO:0030017 9.23 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.76 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
2 sarcomere organization GO:0045214 9.73 TTN TPM1 TNNT2
3 muscle contraction GO:0006936 9.73 TTN TRIM63 TPM1 TNNT2 TNNI3 MYH7
4 regulation of heart contraction GO:0008016 9.72 TPM1 TNNT2 PLN
5 skeletal muscle contraction GO:0003009 9.71 TNNI3 TNNC1 MYH7
6 positive regulation of ATPase activity GO:0032781 9.71 TPM1 TNNT2 MYL3 MYBPC3
7 heart contraction GO:0060047 9.69 TNNI3 MYL2 ACTC1
8 striated muscle contraction GO:0006941 9.67 TTN TNNI3 MYH7
9 regulation of the force of heart contraction GO:0002026 9.67 PLN MYL3 MYL2 MYH7
10 negative regulation of ATPase activity GO:0032780 9.65 TNNT2 TNNI3 PLN
11 cardiac myofibril assembly GO:0055003 9.63 TTN MYL2 ACTC1
12 regulation of muscle contraction GO:0006937 9.62 TPM1 TNNT2 TNNI3 TNNC1
13 regulation of striated muscle contraction GO:0006942 9.61 MYL3 MYL2 MYBPC3
14 cardiac muscle contraction GO:0060048 9.61 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
15 cardiac muscle tissue morphogenesis GO:0055008 9.58 TTN ACTC1
16 transition between fast and slow fiber GO:0014883 9.58 TNNC1 MYH7
17 skeletal muscle thin filament assembly GO:0030240 9.57 TTN ACTC1
18 regulation of muscle filament sliding speed GO:0032972 9.52 TNNT2 TNNC1
19 muscle filament sliding GO:0030049 9.32 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 9.77 TPM1 TNNT2 TNNI3 MYH7 MYBPC3
2 titin binding GO:0031432 9.43 TRIM63 MYBPC3
3 myosin heavy chain binding GO:0032036 9.4 MYL2 MYBPC3
4 actin filament binding GO:0051015 9.35 TTN TPM1 TNNI3 TNNC1 MYH7
5 troponin I binding GO:0031013 9.32 TNNT2 TNNC1
6 troponin T binding GO:0031014 9.26 TNNI3 TNNC1
7 troponin C binding GO:0030172 9.16 TNNT2 TNNI3
8 structural constituent of muscle GO:0008307 9.02 TTN TPM1 MYL3 MYL2 MYBPC3

Sources for Hypertrophic Cardiomyopathy

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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