CMH3
MCID: CRD207
MIFTS: 30

Cardiomyopathy, Hypertrophic, 3 (CMH3) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 3

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 3:

Name: Cardiomyopathy, Hypertrophic, 3 54
Cardiomyopathy, Familial Hypertrophic, 3 13 69
Cardiomyopathy, Familial Hypertrophic 3 66 29
Hypertrophic Cardiomyopathy 3 12 14
Cmh3 12 66
Cardiomyopathy Familial Hypertrophic 3 12

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 115196
Disease Ontology 12 DOID:0110309
MedGen 40 C1861863
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 3

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, familial hypertrophic 3: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Hypertrophic, 3, also known as cardiomyopathy, familial hypertrophic, 3, is related to cardiomyopathy, familial hypertrophic and nemaline myopathy 6, autosomal dominant, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 3 is TPM1 (Tropomyosin 1 (Alpha)). The drugs Carvedilol and Doxazosin have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.

Description from OMIM: 115196

Related Diseases for Cardiomyopathy, Hypertrophic, 3

Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Hypertrophic 6
Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy, Hypertrophic, 12
Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy, Hypertrophic, 11
Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy, Hypertrophic, 25
Cardiomyopathy, Hypertrophic, 19 Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, 17 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 Calr3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Csrp3-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

Diseases related to Cardiomyopathy, Hypertrophic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9
2 nemaline myopathy 6, autosomal dominant 9.8 FOXJ2 TPM1

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 3

Symptoms by clinical synopsis from OMIM:

115196

Clinical features from OMIM:

115196

Human phenotypes related to Cardiomyopathy, Hypertrophic, 3:

32
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 3

Drugs for Cardiomyopathy, Hypertrophic, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Doxazosin Approved Phase 4 74191-85-8 3157
3
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
4
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
5
Chlorthalidone Approved Phase 4 77-36-1 2732
6
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
7 Vasodilator Agents Phase 4,Phase 3,Phase 2
8 Adrenergic Agents Phase 4,Phase 3
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Adrenergic alpha-Antagonists Phase 4
11 Adrenergic Antagonists Phase 4,Phase 3
12 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3
13 Adrenergic beta-Antagonists Phase 4,Phase 3
14 Anti-Arrhythmia Agents Phase 4,Phase 3
15 Antihypertensive Agents Phase 4,Phase 2,Phase 3
16 Autonomic Agents Phase 4,Phase 3
17 Neurotransmitter Agents Phase 4,Phase 3
18 Peripheral Nervous System Agents Phase 4,Phase 3
19 Sympatholytics Phase 4,Phase 3
20 Hormones Phase 4
21 Phosphodiesterase 5 Inhibitors Phase 4
22 Phosphodiesterase Inhibitors Phase 4
23 diuretics Phase 4
24 Diuretics, Potassium Sparing Phase 4
25 Hormone Antagonists Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
27 Mineralocorticoid Receptor Antagonists Phase 4
28 Mineralocorticoids Phase 4
29 Natriuretic Agents Phase 4
30 Sodium Chloride Symporter Inhibitors Phase 4
31
Perhexiline Approved Phase 3,Phase 2 6621-47-2 4746
32
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
33
Diltiazem Approved Phase 2, Phase 3 42399-41-7 39186
34
Atenolol Approved Phase 3 29122-68-7 2249
35
Losartan Approved Phase 3 114798-26-4 3961
36
Ethanol Approved Phase 3,Phase 2 64-17-5 702
37
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
38
Maleic acid Experimental Phase 3 110-16-7 444266
39 calcium channel blockers Phase 3,Phase 2
40 Calcium, Dietary Phase 3,Phase 2
41 Anticholesteremic Agents Phase 3
42 Antimetabolites Phase 3
43 Atorvastatin Calcium Phase 3 134523-03-8
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
45 Hypolipidemic Agents Phase 3
46 Lipid Regulating Agents Phase 3
47
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
48 Angiotensin II Type 1 Receptor Blockers Phase 3
49 Angiotensin Receptor Antagonists Phase 3
50 Angiotensinogen Phase 3

Interventional clinical trials:

(show all 40)
id Name Status NCT ID Phase
1 Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4
2 REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrs Recruiting NCT01803828 Phase 4
3 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Recruiting NCT02502981 Phase 4
4 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4
5 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Unknown status NCT02431221 Phase 3
6 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
7 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, Phase 3
8 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3
9 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3
10 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3
11 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3
12 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3
13 The PARTNER 3 - AVIV Trial Recruiting NCT03003299 Phase 3
14 Lung Water by Ultrasound Guided Treatment in Hemodialysis Patients (The Lust Study). Recruiting NCT02310061 Phase 3
15 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3
16 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2
17 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
18 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
19 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2
20 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
21 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
22 The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast Cancer Unknown status NCT01503697
23 Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
24 Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts Completed NCT00001878
25 The Role of Heart Stiff and Weak Atrium on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy Completed NCT00074880
26 Study of Exercise Training in Hypertrophic Cardiomyopathy Completed NCT01127061
27 The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study Completed NCT01160536
28 Analysis of Heart Muscle Function in Patients With Heart Disease and Normal Volunteers Completed NCT00001459
29 Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains Completed NCT01178164
30 Added Value of Speckle Tracking in the Evaluation of Patients With Sickle Cell Disease Completed NCT02394431
31 Hyper-synchronicity in Hypertrophic Cardiomyopathy (HCM) : Description, Mechanism and Origin With a Multi-imaging Approach to Predict Dual Chamber Pacing Response Recruiting NCT02559726
32 Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM) Recruiting NCT02492399
33 Individualized Early Risk Assessment for Heart Diseases Recruiting NCT02417311
34 Non-Invasive Evaluation of Myocardial Stiffness by Elastography in Pediatric Cardiology (Elasto-Pédiatrie) Recruiting NCT02619825
35 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
36 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
37 Reversible Pulmonary Artery Banding as Simplified Management of End-stage Dilated Left Ventriculopathy in Early Life Recruiting NCT02652676
38 Evaluating Microvascular Dysfunction in Symptomatic Patients With HypertroPhic CaRdiomyopathy Not yet recruiting NCT02994615
39 Evaluate the Efficacy of Disopyramide Therapy in Hypertrophic Obstructive Cardiomyopathy Patients Not yet recruiting NCT02917395
40 3D Echocardiography Managing Infantile Pompe's Disease Terminated NCT00277979

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 3

Genetic Tests for Cardiomyopathy, Hypertrophic, 3

Genetic tests related to Cardiomyopathy, Hypertrophic, 3:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 3 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 3

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 3:

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 3

Variations for Cardiomyopathy, Hypertrophic, 3

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 3:

66
id Symbol AA change Variation ID SNP ID
1 TPM1 p.Asp175Asn VAR_007601 rs28934270
2 TPM1 p.Glu180Gly VAR_007602 rs28934269
3 TPM1 p.Ala63Val VAR_013135 rs199476306
4 TPM1 p.Glu180Val VAR_029452 rs104894502

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TPM1 NM_001018005.1(TPM1): c.539A> G (p.Glu180Gly) single nucleotide variant Pathogenic rs104894502 GRCh37 Chromosome 15, 63353114: 63353114
2 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
3 TPM1 NM_001018005.1(TPM1): c.284T> C (p.Val95Ala) single nucleotide variant Pathogenic rs104894504 GRCh37 Chromosome 15, 63349227: 63349227

Expression for Cardiomyopathy, Hypertrophic, 3

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 3.

Pathways for Cardiomyopathy, Hypertrophic, 3

GO Terms for Cardiomyopathy, Hypertrophic, 3

Sources for Cardiomyopathy, Hypertrophic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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