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 74 25 58 36 29 6 15 37 17 71
Cardiomyopathy, Hypertrophic, Familial 44 71
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 72 C0007194
Orphanet 58 ORPHA217569
UMLS 71 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, brain and skeletal muscle, 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 : 74 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 791)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 34.7 TPM1 TNNT2 TNNI3 TNNC1 RPL36A-HNRNPH2 PRKAG2
2 atrial standstill 1 34.2 TPM1 TNNT2 TNNI3 TMEM43 RPL36A-HNRNPH2 PRKAG2
3 cardiomyopathy, familial hypertrophic, 4 33.5 TPM1 TNNT2 MYH7 MYBPC3
4 cardiomyopathy, familial hypertrophic, 10 33.3 MYL2 LOC114827850
5 dilated cardiomyopathy 33.2 TPM1 TNNT2 TNNI3 TNNC1 TMEM43 SLC25A4
6 danon disease 33.1 PRKAG2 MYH7 MYBPC3 LAMP2
7 noonan syndrome with multiple lentigines 32.9 TNNT2 PTPN11 MYH7 MYBPC3
8 cardiac conduction defect 32.9 MYH7 MYBPC3 CEP85L
9 barth syndrome 32.9 TNNT2 MYH7 MYBPC3 ACTC1
10 myopathy 32.7 TPM1 TNNT2 TNNI3 TMEM43 SLC25A4 MYL3
11 mitochondrial dna depletion syndrome 12b 32.6 SLC25A4 PRKAG2 MYH7 MYBPC3
12 mitral valve insufficiency 32.5 TNNT2 TNNI3 MYH7 MYBPC3
13 cardiac arrest 32.5 TNNT2 TNNI3 MYH7 MYBPC3 DSG2 CEP85L
14 left ventricular noncompaction 32.4 TPM1 TNNT2 TNNI3 TNNC1 TMEM43 PTPN11
15 congestive heart failure 32.4 TNNT2 TNNI3 MYH7 ACTN2
16 restrictive cardiomyopathy 32.3 TPM1 TNNT2 TNNI3 TNNC1 SLC25A4 MYL3
17 heart disease 32.3 TPM1 TNNT2 TNNI3 PTPN11 MYH7 MYBPC3
18 fabry disease 32.1 TNNI3 RPL36A-HNRNPH2 PRKAG2 LAMP2
19 wolff-parkinson-white syndrome 32.1 TNNT2 TNNI3 PRKAG2 MYH7 MYBPC3 LAMP2
20 heart septal defect 31.9 TNNT2 PTPN11 ACTC1
21 familial isolated dilated cardiomyopathy 31.9 TPM1 TNNT2 TNNI3 TNNC1 MYL2 MYH7
22 lipoprotein quantitative trait locus 31.9 TNNT2 TNNI3 MYH7 MYBPC3 ACTC1
23 brugada syndrome 31.8 TPM1 TNNT2 TNNI3 TMEM43 PRKAG2 MYL3
24 left bundle branch hemiblock 31.8 TNNT2 TNNI3 TMEM43 DSG2
25 atrial heart septal defect 31.8 TNNT2 TNNI3 PTPN11 MYH7 ACTC1
26 arrhythmogenic right ventricular cardiomyopathy 31.8 TMEM43 PTPN11 MYL2 MYH7 DSG2 ACTN2
27 long qt syndrome 31.8 TMEM43 MYH7 MYBPC3 DSG2 ACTN2
28 rasopathy 31.8 TNNT2 PTPN11 PRKAG2 MYL2 MYH7 MYBPC3
29 tetralogy of fallot 31.7 TPM1 TNNT2 TNNI3 PTPN11 ACTN2 ACTC1
30 muscular dystrophy 31.5 TNNT2 TMEM43 SLC25A4 MYH7 ACTN2
31 aortic valve disease 2 31.5 TNNT2 TNNI3 MYH7 MYBPC3
32 patent foramen ovale 31.1 TNNT2 TNNI3 PTPN11 MYL3 ACTC1
33 dextrocardia 31.1 TNNT2 MYH7 ACTC1
34 familial isolated restrictive cardiomyopathy 31.0 TNNT2 TNNI3 MYL2 LOC114827850
35 ebstein anomaly 30.9 TPM1 TNNT2 TMEM43 MYH7 MYBPC3 ACTC1
36 cardiomyopathy, dilated, 1e 30.8 TPM1 TNNC1 MYL2 MYH7
37 mobitz type ii atrioventricular block 30.8 TNNT2 MYH7 ACTC1
38 silent myocardial infarction 30.6 TNNT2 TNNI3
39 cardiomyopathy, dilated, 1m 30.3 TNNI3 MYL2
40 sengers syndrome 11.7
41 deafness, autosomal dominant 22 11.6
42 cardiomyopathy, familial hypertrophic, 6 11.6
43 cardiomyopathy, familial hypertrophic, 8 11.6
44 combined oxidative phosphorylation deficiency 16 11.6
45 cardiomyopathy, infantile hypertrophic 11.5
46 cardiomyopathy, familial hypertrophic, 7 11.5
47 cardiomyopathy, familial hypertrophic, 2 11.5
48 cardiomyopathy, familial hypertrophic, 3 11.5
49 cardiomyopathy, familial hypertrophic, 13 11.5
50 cardiomyopathy, familial hypertrophic, 12 11.5

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 DSG2 LAMP2 MYBPC3 MYH7 MYL2
2 muscle MP:0005369 9.4 ACTC1 DSG2 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 95635-55-5, 142387-99-3 56959
3
Ethanol Approved Phase 4 64-17-5 702
4
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 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 Hormone Antagonists Phase 4
11 Mineralocorticoid Receptor Antagonists Phase 4
12 Mineralocorticoids Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Sodium Channel Blockers Phase 4
15 Antihypertensive Agents Phase 4
16 Adrenergic beta-Antagonists Phase 4
17 Adrenergic Antagonists Phase 4
18 Sympatholytics Phase 4
19 Adrenergic beta-1 Receptor Antagonists Phase 4
20 Adrenergic Agents Phase 4
21 Protective Agents Phase 4
22 Cardiotonic Agents Phase 4
23 Adrenergic beta-Agonists Phase 4
24 Sympathomimetics Phase 4
25 Adrenergic Agonists Phase 4
26 Neurotransmitter Agents Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Analgesics Phase 4
29
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
30
Atorvastatin Approved Phase 3 134523-00-5 60823
31
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
32
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
33 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
34 Hypolipidemic Agents Phase 3
35 Antimetabolites Phase 3
36 Lipid Regulating Agents Phase 3
37 Anticholesteremic Agents Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Analgesics, Non-Narcotic Phase 3
40 Fibrinolytic Agents Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Platelet Aggregation Inhibitors Phase 3
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Antirheumatic Agents Phase 3
45 Antipyretics Phase 3
46
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
47
Trimetazidine Approved, Investigational Phase 2 5011-34-7
48
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
49
Losartan Approved Phase 2 114798-26-4 3961
50
Dipyridamole Approved Phase 2 58-32-2 3108

Interventional clinical trials:

(show top 50) (show all 175)
# 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 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
10 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
11 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;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 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
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 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
25 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Completed NCT01912534 Phase 2 Valsartan;Placebo
26 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
27 A Randomized, Double-blind, Placebo-controlled, Concentration-guided, Exploratory Study of Mavacameten in Patients With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) and Preserved Left Ventricular Ejection Fraction Completed NCT03442764 Phase 2 mavacamten;Placebo
28 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
29 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
30 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
31 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
32 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
33 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
34 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
35 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
36 The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
37 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
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 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
40 A Randomised, Double-blind, Placebo-controlled, Phase 2 Evaluation of the Efficacy and Mechanism of Trientine in Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT04706429 Phase 2 Trientine;Placebo
41 Randomised Controlled Trial of pErhexiline on regreSsion Of Left Ventricular hypErtrophy (LVH) in Patients With Symptomatic Hypertrophic CardioMyopathy (RESOLVE-HCM) Not yet recruiting NCT04426578 Phase 2 Perhexiline
42 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
43 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
44 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
45 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
46 Diastolic Ventricular Interaction and the Effects Of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
47 Obstructive Hypertrophic Cardiomyopathy (HCM) in Children: Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy Completed NCT00001396 Phase 1
48 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
49 Pilot Feasibility Study With N-acetylcystein (NAC) in Patients With HCM Caused by Sarcomere Proteins Mutations Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
50 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

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

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 13739)
# Title Authors PMID Year
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 25 61
30681346 2019
2
Sudden Death Can Be the First Manifestation of Hypertrophic Cardiomyopathy: Data From a United Kingdom Pathology Registry. 25 61
30784699 2019
3
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 25 61
30297972 2018
4
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. 25 61
29030401 2017
5
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 25 61
28790153 2017
6
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 25 61
26846950 2016
7
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 61 25
25611685 2015
8
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 61 25
25173338 2014
9
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 61 25
24793961 2014
10
Pathogeneses of sudden cardiac death in national collegiate athletic association athletes. 25 61
24585715 2014
11
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. 61 25
23598715 2013
12
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. 61 25
22068435 2011
13
Outcome of mildly symptomatic or asymptomatic obstructive hypertrophic cardiomyopathy: a long-term follow-up study. 25 61
19589436 2009
14
Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. 25 61
16831987 2006
15
Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. 61 25
12540642 2003
16
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 25 61
12081993 2002
17
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 25 61
11815426 2002
18
Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. 25 61
11447072 2001
19
Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. 25 61
10952953 2000
20
First description of germline mosaicism in familial hypertrophic cardiomyopathy. 25 61
10662815 2000
21
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. 25
29567486 2018
22
Role of Genetic Testing in Inherited Cardiovascular Disease: A Review. 25
28793145 2017
23
A Prospective Study of Sudden Cardiac Death among Children and Young Adults. 25
27332903 2016
24
Timing, rates and spectra of human germline mutation. 25
26656846 2016
25
Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. 25
21903060 2011
26
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 25
19467855 2009
27
From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene. 61 54
19219553 2008
28
Is sudden cardiac death predictable in LEOPARD syndrome? 61 54
17116277 2006
29
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". 61 54
16733669 2006
30
[Direct detection of malignant mutations in patients with hypertrophic cardiomyopathy]. 61 54
14563299 2003
31
Sudden death in young athletes. 25
12968091 2003
32
Does ablation of atrial fibrillation at the time of septal myectomy improve survival of patients with obstructive hypertrophic cardiomyopathy? 61
32977972 2021
33
A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin. 61
33600558 2021
34
Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin. 61
33492345 2021
35
Minute ventilation/carbon dioxide production in chronic heart failure. 61
33536259 2021
36
Fetal Cardiac Functional Abnormalities Assessed by Echocardiography in Mothers Suffering Gestational Diabetes Mellitus: A Systematic Review and Meta-analysis. 61
32861465 2021
37
Is Exercise Helpful or Harmful in Dealing With Specific Arrhythmia. 61
33213943 2021
38
Impact of cardiac magnetic resonance on the diagnosis of hypertrophic cardiomyopathy - a 10-year experience with over 1000 patients. 61
32876838 2021
39
Predicting the development of adverse cardiac events in patients with hypertrophic cardiomyopathy using machine learning. 61
33181159 2021
40
A systematic review of microRNAs in patients with hypertrophic cardiomyopathy. 61
33212095 2021
41
Low Risk of Hypertrophic Cardiomyopathy With Contemporary Management Strategies Implemented in Non-Referral Regional Community-Based Practices. 61
33279482 2021
42
An Integrated Review of Hypertrophic Cardiomyopathy in Black Populations: Underrecognized and Understudied. 61
33565785 2021
43
Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide. 61
33001359 2021
44
Texture analysis applied in T1 maps and extracellular volume obtained using cardiac MRI in the diagnosis of hypertrophic cardiomyopathy and hypertensive heart disease compared with normal controls. 61
33272531 2021
45
After 60 Years Hypertrophic Cardiomyopathy is Finally Recognized as a Contemporary Treatable Disease With Low Mortality and Morbidity, But is This Paradigm Under-Recognized in the Literature? 61
33309776 2021
46
The Role of Mitral Valve in Hypertrophic Obstructive Cardiomyopathy: An Updated Review. 61
32586596 2021
47
The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy. 61
33567718 2021
48
An unusual presentation of dyspnea following septal ablation for obstructive hypertrophic cardiomyopathy. 61
33345409 2021
49
Left intraventricular pressure gradient in hypertrophic cardiomyopathy patients receiving implantable cardioverter-defibrillators for primary prevention. 61
33607967 2021
50
Hydraulic force is a novel mechanism of diastolic function which may contribute to decreased diastolic filling in HFpEF and facilitate filling in HFrEF. 61
33539261 2021

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6 (show top 50) (show all 3895)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYBPC3 NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs) Deletion Pathogenic 859341 11:47359031-47359034 11:47337480-47337483
2 MYBPC3 NM_000256.3(MYBPC3):c.1774_1775GT[1] (p.Ser593fs) Microsatellite Pathogenic 181149 rs730880713 11:47363555-47363556 11:47342004-47342005
3 MYBPC3 NM_000256.3(MYBPC3):c.1569del (p.His524fs) Deletion Pathogenic 835859 11:47364184-47364184 11:47342633-47342633
4 MYBPC3 NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) SNV Pathogenic 217478 rs863225106 11:47359283-47359283 11:47337732-47337732
5 MYBPC3 Insertion Pathogenic 870305
6 MYBPC3 NM_000256.3(MYBPC3):c.450del (p.Asp151fs) Deletion Pathogenic 181105 rs730880677 11:47371620-47371620 11:47350069-47350069
7 MYH7 NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) SNV Pathogenic 14123 rs121913654 14:23884385-23884385 14:23415176-23415176
8 MYBPC3 NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs) Duplication Pathogenic 940607 11:47372137-47372138 11:47350586-47350587
9 MYBPC3 NM_000256.3(MYBPC3):c.627_637del (p.His210fs) Deletion Pathogenic 430008 rs1555123389 11:47371342-47371352 11:47349791-47349801
10 MYBPC3 NM_000256.3(MYBPC3):c.1359del (p.Val454fs) Deletion Pathogenic 217835 rs863225271 11:47364479-47364479 11:47342928-47342928
11 MYBPC3 NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) Deletion Pathogenic 941724 11:47358974-47358984 11:47337423-47337433
12 MYBPC3 NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs) Insertion Pathogenic 941869 11:47364137-47364138 11:47342586-47342587
13 MYBPC3 NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) Deletion Pathogenic 181082 rs730880655 11:47357561-47357561 11:47336010-47336010
14 MYBPC3 NM_000256.3(MYBPC3):c.1458-1G>T SNV Pathogenic 949225 11:47364296-47364296 11:47342745-47342745
15 MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) SNV Pathogenic 42910 rs397516153 14:23894144-23894144 14:23424935-23424935
16 MYBPC3 NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter) SNV Pathogenic 951054 11:47354172-47354172 11:47332621-47332621
17 MYBPC3 NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) Deletion Pathogenic 423106 rs1064796231 11:47353711-47353711 11:47332160-47332160
18 MYBPC3 NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) SNV Pathogenic 620091 rs1419032418 11:47359091-47359091 11:47337540-47337540
19 MYBPC3 NM_000256.3(MYBPC3):c.2067+1G>A SNV Pathogenic 449066 rs1444727212 11:47361201-47361201 11:47339650-47339650
20 MYBPC3 NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) Deletion Pathogenic 955173 11:47353684-47353685 11:47332133-47332134
21 MYBPC3 NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) SNV Pathogenic 960010 11:47367849-47367849 11:47346298-47346298
22 MYBPC3 NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs) Deletion Pathogenic 956403 11:47354184-47354184 11:47332633-47332633
23 MYBPC3 NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln) SNV Pathogenic 959497 11:47364572-47364572 11:47343021-47343021
24 MYBPC3 NM_000256.3(MYBPC3):c.681del (p.Asp228fs) Deletion Pathogenic 963628 11:47370066-47370066 11:47348515-47348515
25 MYBPC3 NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) Deletion Pathogenic 963722 11:47365138-47365138 11:47343587-47343587
26 MYBPC3 NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) Deletion Pathogenic 418349 rs745811346 11:47372983-47372984 11:47351432-47351433
27 MYBPC3 NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs) Deletion Pathogenic 967128 11:47362558-47362559 11:47341007-47341008
28 MYBPC3 NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter) SNV Pathogenic 373084 rs779650200 11:47354818-47354818 11:47333267-47333267
29 MYBPC3 NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) Duplication Pathogenic 181160 rs730880724 11:47365103-47365104 11:47343552-47343553
30 MYBPC3 NM_000256.3(MYBPC3):c.554del (p.Lys185fs) Deletion Pathogenic 969161 11:47371425-47371425 11:47349874-47349874
31 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) SNV Pathogenic 43636 rs397516463 1:201333497-201333497 1:201364369-201364369
32 TNNT2 NM_001276345.2(TNNT2):c.851+1G>A SNV Pathogenic 43673 rs111377893 1:201328750-201328750 1:201359622-201359622
33 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) SNV Pathogenic 43628 rs397516457 1:201334419-201334419 1:201365291-201365291
34 ACTN2 NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) SNV Pathogenic 162727 rs727502886 1:236882307-236882307 1:236719007-236719007
35 MYH7 NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) SNV Pathogenic 164337 rs727503260 14:23894612-23894612 14:23425403-23425403
36 MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV Pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329
37 TNNI3 NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) SNV Pathogenic 165516 rs727503503 19:55665438-55665438 19:55154070-55154070
38 MYH7 NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) SNV Pathogenic 42933 rs397516171 14:23893250-23893250 14:23424041-23424041
39 TNNI3 NM_000363.5(TNNI3):c.575G>A (p.Arg192His) SNV Pathogenic 12424 rs104894729 19:55663260-55663260 19:55151892-55151892
40 CEP85L NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037
41 TNNI3 NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) SNV Pathogenic 43395 rs397516357 19:55663278-55663278 19:55151910-55151910
42 MYL3 NM_000258.2(MYL3):c.445A>G (p.Met149Val) SNV Pathogenic 14061 rs104893748 3:46901001-46901001 3:46859511-46859511
43 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847
44 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630
45 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
46 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Pathogenic 12409 rs121964856 1:201334425-201334425 1:201365297-201365297
47 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
48 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del) Microsatellite Pathogenic 43648 rs397516470 1:201332505-201332507 1:201363377-201363379
49 TPM1 NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) SNV Pathogenic 12457 rs104894504 15:63349227-63349227 15:63057028-63057028
50 MYH7 NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) SNV Pathogenic 181401 rs730880922 14:23900683-23900683 14:23431474-23431474

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
2
Show member pathways
12.41 TPM1 TNNT2 TNNI3 TNNC1 SLC25A4 MYL3
3
Show member pathways
12.36 MYL3 MYL2 MYH7 ACTN2 ACTC1
4 12.28 TPM1 TNNT2 TNNI3 ACTC1
5
Show member pathways
12.1 MYL3 MYL2 MYH7 ACTN2
6 11.84 PRKAG2 MYL3 MYL2
7 11.7 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
8 11.63 TNNT2 TNNI3 MYL3
9
Show member pathways
11.59 TPM1 TNNT2 TNNI3 TNNC1 PRKAG2 MYL3
10 11.47 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
11 11.39 TNNT2 TNNI3 MYL2 ACTC1
12 11.28 MYL3 MYL2 MYH7 ACTC1
13 10.85 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 cytosol GO:0005829 10.29 TPM1 TNNT2 TNNI3 TNNC1 RPL36A-HNRNPH2 PTPN11
2 actin filament GO:0005884 9.61 TPM1 ACTN2 ACTC1
3 myosin complex GO:0016459 9.58 MYL3 MYL2 MYH7
4 myofibril GO:0030016 9.56 TNNT2 TNNI3 MYL2 MYH7
5 A band GO:0031672 9.54 MYL3 MYL2 MYBPC3
6 I band GO:0031674 9.52 MYL3 ACTC1
7 troponin complex GO:0005861 9.5 TNNT2 TNNI3 TNNC1
8 myosin filament GO:0032982 9.49 MYH7 MYBPC3
9 contractile fiber GO:0043292 9.48 TNNI3 TNNC1
10 muscle myosin complex GO:0005859 9.46 MYL3 MYH7
11 cardiac Troponin complex GO:1990584 9.33 TNNT2 TNNI3 TNNC1
12 sarcomere GO:0030017 9.28 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
13 cardiac myofibril GO:0097512 9.26 TNNT2 TNNI3 MYL2 MYBPC3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.76 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYH7
2 muscle contraction GO:0006936 9.72 TPM1 TNNT2 TNNI3 MYH7 ACTN2
3 sarcomere organization GO:0045214 9.69 TPM1 TNNT2 ACTN2
4 skeletal muscle contraction GO:0003009 9.67 TNNI3 TNNC1 MYH7
5 positive regulation of ATPase activity GO:0032781 9.67 TPM1 TNNT2 MYL3 MYBPC3
6 regulation of the force of heart contraction GO:0002026 9.63 MYL3 MYL2 MYH7
7 heart contraction GO:0060047 9.61 TNNI3 MYL2 ACTC1
8 regulation of striated muscle contraction GO:0006942 9.58 MYL3 MYL2 MYBPC3
9 striated muscle contraction GO:0006941 9.56 TNNI3 MYH7
10 regulation of muscle contraction GO:0006937 9.56 TPM1 TNNT2 TNNI3 TNNC1
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
12 negative regulation of ATPase activity GO:0032780 9.55 TNNT2 TNNI3
13 cardiac myofibril assembly GO:0055003 9.54 MYL2 ACTC1
14 transition between fast and slow fiber GO:0014883 9.52 TNNC1 MYH7
15 regulation of muscle filament sliding speed GO:0032972 9.48 TNNT2 TNNC1
16 muscle filament sliding GO:0030049 9.32 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.73 TNNI3 PTPN11 LAMP2 ACTN2
2 actin filament binding GO:0051015 9.55 TPM1 TNNI3 TNNC1 MYH7 ACTN2
3 titin binding GO:0031432 9.46 MYBPC3 ACTN2
4 actin binding GO:0003779 9.43 TPM1 TNNT2 TNNI3 MYH7 MYBPC3 ACTN2
5 myosin heavy chain binding GO:0032036 9.4 MYL2 MYBPC3
6 troponin I binding GO:0031013 9.37 TNNT2 TNNC1
7 troponin T binding GO:0031014 9.32 TNNI3 TNNC1
8 troponin C binding GO:0030172 9.26 TNNT2 TNNI3
9 structural constituent of muscle GO:0008307 9.02 TPM1 MYL3 MYL2 MYBPC3 ACTN2

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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