MCID: CRD207
MIFTS: 31

Cardiomyopathy, Hypertrophic, 3

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 3

MalaCards integrated aliases for Cardiomyopathy, Hypertrophic, 3:

Name: Cardiomyopathy, Hypertrophic, 3 54
Cardiomyopathy, Familial Hypertrophic, 3 13 69
Hypertrophic Cardiomyopathy 3 12 14
Cmh3 12 71
Cardiomyopathy, Familial Hypertrophic 3 71
Cardiomyopathy Familial Hypertrophic 3 12
Familial Hypertrophic Cardiomyopathy 3 29

Characteristics:

OMIM:

54
Inheritance:
other forms at loci on chromosomes 1, 11, 14, and at least one other locus
autosomal dominant (15)


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 : 71 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 parkinson disease 23, autosomal recessive, early onset, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 3 is TPM1 (Tropomyosin 1 (Alpha)). The drugs Amiodarone and Diltiazem have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial.

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, Familial Hypertrophic, 26
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 Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Calr3-Related Familial Hypertrophic Cardiomyopathy
Cav3-Related Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Jph2-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 parkinson disease 23, autosomal recessive, early onset 9.5 FOXJ2 TPM1

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 3

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
hypertrophic cardiomyopathy


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 55)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
2
Diltiazem Approved Phase 2, Phase 3 42399-41-7 39186
3
Atenolol Approved Phase 3 29122-68-7 2249
4
Losartan Approved Phase 3 114798-26-4 3961
5
Ethanol Approved Phase 3,Phase 2 64-17-5 702
6
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
7
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
8 Vasodilator Agents Phase 2, Phase 3
9 Anti-Arrhythmia Agents Phase 3
10 Antihypertensive Agents Phase 2, Phase 3
11 calcium channel blockers Phase 2, Phase 3
12 Calcium, Dietary Phase 2, Phase 3
13 Anticholesteremic Agents Phase 3
14 Antimetabolites Phase 3
15 Atorvastatin Calcium Phase 3 134523-03-8
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
17 Hypolipidemic Agents Phase 3
18 Lipid Regulating Agents Phase 3
19 Adrenergic Agents Phase 3
20 Adrenergic Antagonists Phase 3
21 Adrenergic beta-1 Receptor Antagonists Phase 3
22 Adrenergic beta-Antagonists Phase 3
23 Angiotensin II Type 1 Receptor Blockers Phase 3
24 Angiotensin Receptor Antagonists Phase 3
25 Angiotensinogen Phase 3
26 Autonomic Agents Phase 3
27 Neurotransmitter Agents Phase 3
28 Peripheral Nervous System Agents Phase 3
29 Sympatholytics Phase 3
30 Analgesics Phase 3
31 Analgesics, Non-Narcotic Phase 3
32 Anti-Infective Agents Phase 3
33 Anti-Infective Agents, Local Phase 3
34 Anti-Inflammatory Agents Phase 3
35 Anti-Inflammatory Agents, Non-Steroidal Phase 3
36 Antipyretics Phase 3
37 Antirheumatic Agents Phase 3
38 Central Nervous System Depressants Phase 3
39 Cyclooxygenase Inhibitors Phase 3
40 Fibrinolytic Agents Phase 3
41 Platelet Aggregation Inhibitors Phase 3
42
Trimetazidine Approved Phase 2 5011-34-7
43 Radiopharmaceuticals Phase 2
44
Menthol Approved 2216-51-5 16666
45
Disopyramide Approved 3737-09-5 3114
46 Complement Factor I
47 Hormones
48 insulin
49 Insulin, Globin Zinc
50 Mitogens

Interventional clinical trials:

(show all 34)

id Name Status NCT ID Phase Drugs
1 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
2 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3 Antiarrhythmic drugs
3 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
4 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3 Atorvastatin;Placebo
5 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
6 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3 Aspirin
7 The PARTNER 3 - AVIV Trial Recruiting NCT03003299 Phase 3
8 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
9 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
10 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
11 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
12 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
13 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
14 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
15 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
16 The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast Cancer Unknown status NCT01503697
17 Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
18 Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts Completed NCT00001878
19 The Role of Heart Stiff and Weak Atrium on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy Completed NCT00074880
20 Study of Exercise Training in Hypertrophic Cardiomyopathy Completed NCT01127061
21 The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study Completed NCT01160536
22 Analysis of Heart Muscle Function in Patients With Heart Disease and Normal Volunteers Completed NCT00001459
23 Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains Completed NCT01178164
24 Hyper-synchronicity in Hypertrophic Cardiomyopathy (HCM) : Description, Mechanism and Origin With a Multi-imaging Approach to Predict Dual Chamber Pacing Response Recruiting NCT02559726
25 Comparisonof Extended Myoectomy and Myoectomy by Morrow in Patients With Hypertrophic Obstructive Cardiomyopathy (HOCM) Recruiting NCT02492399
26 Individualized Early Risk Assessment for Heart Diseases Recruiting NCT02417311
27 Non-Invasive Evaluation of Myocardial Stiffness by Elastography in Pediatric Cardiology (Elasto-Pédiatrie) Recruiting NCT02619825
28 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
29 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
30 The PARTNER II Trial: Placement of AoRTic TraNscathetER Valves II - PARTNER II - Nested Registry 3/Valve-in-Valve Active, not recruiting NCT03225001
31 Evaluating Microvascular Dysfunction in Symptomatic Patients With HypertroPhic CaRdiomyopathy Not yet recruiting NCT02994615
32 Evaluate the Efficacy of Disopyramide Therapy in Hypertrophic Obstructive Cardiomyopathy Patients Not yet recruiting NCT02917395
33 Natural History in Fabry Patients With IVS4+919G>A Mutation Not yet recruiting NCT03222336
34 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, Endothelial

Publications for Cardiomyopathy, Hypertrophic, 3

Variations for Cardiomyopathy, Hypertrophic, 3

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

71
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

Molecular functions related to Cardiomyopathy, Hypertrophic, 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.32 FOXJ2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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