CMH2
MCID: CRD190
MIFTS: 39

Cardiomyopathy, Hypertrophic, 2 (CMH2) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 2

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 2:

Name: Cardiomyopathy, Hypertrophic, 2 54
Cardiomyopathy, Familial Hypertrophic, 2 13 69
Cardiomyopathy, Familial Hypertrophic 2 66 29
Hypertrophic Cardiomyopathy 2 12 14
Cmh2 12 66
Cardiomyopathy Familial Hypertrophic 2 12

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 115195
Disease Ontology 12 DOID:0110308
MedGen 40 C1861864
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 2

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, familial hypertrophic 2: 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, 2, also known as cardiomyopathy, familial hypertrophic, 2, is related to cardiomyopathy, familial hypertrophic and inflammatory bowel disease 16, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 2 is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Pathways in cancer and Ceramide signaling pathway. The drugs Spironolactone and Carvedilol 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 cardiac troponin-T2 gene (TNNT2).

Description from OMIM: 115195

Related Diseases for Cardiomyopathy, Hypertrophic, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9
2 inflammatory bowel disease 16 9.7 ANXA5 CYCS MAPK8
3 cardiomyopathy, dilated, 1d 8.2 ANXA5 CD55 CYCS F2R FOXM1 MAPK8

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 2

Symptoms by clinical synopsis from OMIM:

115195

Clinical features from OMIM:

115195

Human phenotypes related to Cardiomyopathy, Hypertrophic, 2:

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

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 2

Drugs for Cardiomyopathy, Hypertrophic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
3
Doxazosin Approved Phase 4 74191-85-8 3157
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Tadalafil Approved, Investigational Phase 4,Phase 2 171596-29-5 110635
6
Chlorthalidone Approved Phase 4 77-36-1 2732
7
Empagliflozin Approved Phase 4 864070-44-0
8
Glimepiride Approved Phase 4 93479-97-1 3476
9 diuretics Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 Hormone Antagonists Phase 4
12 Hormones Phase 4
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
14 Mineralocorticoid Receptor Antagonists Phase 4
15 Mineralocorticoids Phase 4
16 Natriuretic Agents Phase 4
17 Antihypertensive Agents Phase 4,Phase 2,Phase 3
18 Vasodilator Agents Phase 4,Phase 2,Phase 3
19 Adrenergic Agents Phase 4
20 Adrenergic alpha-1 Receptor Antagonists Phase 4
21 Adrenergic alpha-Antagonists Phase 4
22 Adrenergic Antagonists Phase 4
23 Adrenergic beta-1 Receptor Antagonists Phase 4
24 Adrenergic beta-Antagonists Phase 4
25 Anti-Arrhythmia Agents Phase 4,Phase 2
26 Autonomic Agents Phase 4
27 Neurotransmitter Agents Phase 4
28 Peripheral Nervous System Agents Phase 4,Phase 2
29 Sympatholytics Phase 4
30 Immunosuppressive Agents Phase 4,Phase 2
31 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2
32 Phosphodiesterase Inhibitors Phase 4,Phase 2
33 Sodium Chloride Symporter Inhibitors Phase 4
34 Hypoglycemic Agents Phase 4
35
Perhexiline Approved Phase 2, Phase 3 6621-47-2 4746
36
Diltiazem Approved Phase 2, Phase 3 42399-41-7 39186
37 calcium channel blockers Phase 2, Phase 3
38 Calcium, Dietary Phase 2, Phase 3
39 Anticholesteremic Agents Phase 3
40 Antimetabolites Phase 3
41 Atorvastatin Calcium Phase 3 134523-03-8
42 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
43 Hypolipidemic Agents Phase 3
44 Lipid Regulating Agents Phase 3
45
Trimetazidine Approved Phase 2 5011-34-7
46
Candesartan Approved Phase 2 139481-59-7 2541
47
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Losartan Approved Phase 2 114798-26-4 3961
50
Ethanol Approved Phase 2 64-17-5 702

Interventional clinical trials:

(show top 50) (show all 69)
id Name Status NCT ID Phase
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4
2 Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4
3 REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrs Recruiting NCT01803828 Phase 4
4 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Recruiting NCT02502981 Phase 4
5 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4
6 SGLT2 Inhibition and Left Ventricular Mass Not yet recruiting NCT02728453 Phase 4
7 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4
8 Myocardial Protection With Perhexiline in Left Ventricular Hypertrophy Unknown status NCT00989508 Phase 2, 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 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3
12 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2
13 CHANCE - Candesartan in Hypertrophic Cardiomyopathy Unknown status NCT00430833 Phase 2
14 Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy Completed NCT00500552 Phase 2
15 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2
16 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
17 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2
18 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2
19 Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study Completed NCT00035386 Phase 2
20 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2
21 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
22 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2
23 Study of Blood Flow in Heart Muscle Completed NCT00001631 Phase 2
24 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Recruiting NCT02862600 Phase 2
25 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Recruiting NCT02842242 Phase 2
26 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Recruiting NCT01912534 Phase 2
27 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
28 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
29 Endocrine Cardiomyopathy: Response to Cyclic GMP PDE5 Inhibitors in Acromegaly Cardiomyopathy Not yet recruiting NCT02611336 Phase 2
30 Endocrine Cardiomyopathy in Cushing Syndrome: Response to Cyclic GMP PDE5 inhibitOrs Not yet recruiting NCT02611258 Phase 2
31 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
32 Feasibility Study of Radiofrequency Heating of Cardiac Infarction Scar to Treat Heart Failure Terminated NCT00881777 Phase 1, Phase 2
33 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
34 Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
35 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1
36 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-461 Completed NCT02329184 Phase 1
37 Metabolic Imaging of the Heart Using Hyperpolarized (13C) Pyruvate Injection Recruiting NCT02648009 Phase 1
38 Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01518114
39 Exercise Study Including Patients With Hypertrophic Cardiomyopathy Unknown status NCT01165749
40 Assessment of Left Ventricular Torsion by Echocardiography Study Unknown status NCT00589836
41 The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast Cancer Unknown status NCT01503697
42 Neurohormonal Parameters in Hypertrophic Cardiomyopathies Completed NCT01729702
43 Study of Muscle Abnormalities in Patients With Specific Genetic Mutations Completed NCT00001871
44 Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy Completed NCT01792960
45 Long-Term Results of DDD Pacing in Obstructive Hypertrophic Cardiomyopathy Completed NCT00001530
46 Family Studies of Inherited Heart Disease Completed NCT00001225
47 Effects of Highly Active Anti-Retroviral Therapy on Cardiovascular Health in Infants of HIV-Infected Mothers Completed NCT00253682
48 European CMR Registry Completed NCT01197677
49 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228
50 Cardiovascular Outcome After Surgery or Somatostatin Analogues Completed NCT00615004

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 2

Genetic Tests for Cardiomyopathy, Hypertrophic, 2

Genetic tests related to Cardiomyopathy, Hypertrophic, 2:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 2 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 2

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 2:

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 2

Variations for Cardiomyopathy, Hypertrophic, 2

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 2:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 TNNT2 p.Ile89Asn VAR_007605 rs121964855
2 TNNT2 p.Arg102Gln VAR_007606 rs121964856
3 TNNT2 p.Phe120Ile VAR_007607 rs121964858
4 TNNT2 p.Glu173Lys VAR_007609
5 TNNT2 p.Glu254Asp VAR_007610 rs45466197
6 TNNT2 p.Arg288Cys VAR_007612 rs121964857
7 TNNT2 p.Arg288Pro VAR_007613 rs397516484
8 TNNT2 p.Arg104Leu VAR_009194 rs397516457
9 TNNT2 p.Arg102Leu VAR_016195
10 TNNT2 p.Arg102Trp VAR_016196 rs397516456
11 TNNT2 p.Ala114Val VAR_016197 rs727504245
12 TNNT2 p.Ser189Phe VAR_016199 rs727504246
13 TNNT2 p.Phe80Leu VAR_019877
14 TNNT2 p.Phe120Val VAR_019878
15 TNNT2 p.Asn281Ile VAR_019879 rs863225119
16 TNNT2 p.Arg296Cys VAR_019880 rs367785431
17 TNNT2 p.Arg140Cys VAR_042747 rs397516463
18 TNNT2 p.Ala38Val VAR_067259 rs200754249

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 2:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
3 TNNT2 TNNT2, IVS15, G-A, +1 single nucleotide variant Pathogenic
4 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh37 Chromosome 1, 201334372: 201334372
5 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
6 TNNT2 NM_001001430.2(TNNT2): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
7 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh37 Chromosome 1, 201333497: 201333497
8 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic/Likely pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507
9 TNNT2 NM_001001430.2(TNNT2): c.860G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 GRCh37 Chromosome 1, 201328345: 201328345
10 TNNT2 NM_001001430.2(TNNT2): c.536C> T (p.Ser179Phe) single nucleotide variant Pathogenic/Likely pathogenic rs727504246 GRCh37 Chromosome 1, 201332458: 201332458
11 TNNT2 NM_001001430.2(TNNT2): c.821+1G> C single nucleotide variant Likely pathogenic rs111377893 GRCh38 Chromosome 1, 201359622: 201359622
12 TNNT2 NM_000364.3(TNNT2): c.833A> T (p.Asn278Ile) single nucleotide variant Likely pathogenic rs863225119 GRCh37 Chromosome 1, 201328760: 201328760
13 TNNT2 NM_000364.3(TNNT2): c.653T> C (p.Ile218Thr) single nucleotide variant Likely pathogenic rs863225120 GRCh37 Chromosome 1, 201331098: 201331098

Expression for Cardiomyopathy, Hypertrophic, 2

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 2.

Pathways for Cardiomyopathy, Hypertrophic, 2

Pathways related to Cardiomyopathy, Hypertrophic, 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.52 CYCS F2R MAPK8 SLC2A1
2 10.9 CYCS MAPK8
3 10.62 MAPK8 MAPK8IP1
4 10.4 CYCS MAPK8

GO Terms for Cardiomyopathy, Hypertrophic, 2

Biological processes related to Cardiomyopathy, Hypertrophic, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 CYCS MT-CO1
2 JUN phosphorylation GO:0007258 8.62 MAPK8 MAPK8IP1

Molecular functions related to Cardiomyopathy, Hypertrophic, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ANXA5 CD55 CYCS F2R FOXM1 MAPK8
2 kinesin binding GO:0019894 9.26 MAPK8IP1 SPAG9
3 MAP-kinase scaffold activity GO:0005078 8.96 MAPK8IP1 SPAG9
4 JUN kinase binding GO:0008432 8.62 MAPK8IP1 SPAG9

Sources for Cardiomyopathy, Hypertrophic, 2

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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