CMH7
MCID: CRD210
MIFTS: 28

Cardiomyopathy, Hypertrophic, 7 (CMH7) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 7

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 7:

Name: Cardiomyopathy, Hypertrophic, 7 54
Cardiomyopathy, Familial Hypertrophic 7 12 66 29
Cardiomyopathy, Familial Hypertrophic, 7 13 69
Cmh7 12 66
Hypertrophic Cardiomyopathy 7 12

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 7:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 613690
Disease Ontology 12 DOID:0110313
MedGen 40 CN069699
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 7

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, familial hypertrophic 7: 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, 7, also known as cardiomyopathy, familial hypertrophic 7, is related to cardiomyopathy, familial hypertrophic, and has symptoms including cardiomyopathy, atrial fibrillation and ventricular hypertrophy. An important gene associated with Cardiomyopathy, Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). The drugs Perhexiline and Ethanol 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 TNNI3 gene on chromosome 19q13.4.

Description from OMIM: 613690

Related Diseases for Cardiomyopathy, Hypertrophic, 7

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

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 7

Symptoms by clinical synopsis from OMIM:

613690

Clinical features from OMIM:

613690

Human phenotypes related to Cardiomyopathy, Hypertrophic, 7:

32
id Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 atrial fibrillation 32 HP:0005110
3 ventricular hypertrophy 32 HP:0001714

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 7

Drugs for Cardiomyopathy, Hypertrophic, 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perhexiline Approved Phase 3 6621-47-2 4746
2
Ethanol Approved Phase 3,Phase 2 64-17-5 702
3
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
4
Maleic acid Experimental Phase 3 110-16-7 444266
5 calcium channel blockers Phase 3
6 Calcium, Dietary Phase 3
7 Vasodilator Agents Phase 3
8 Analgesics Phase 3
9 Analgesics, Non-Narcotic Phase 3
10 Anti-Infective Agents Phase 3
11 Anti-Infective Agents, Local Phase 3
12 Anti-Inflammatory Agents Phase 3
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3
14 Antipyretics Phase 3
15 Antirheumatic Agents Phase 3
16 Central Nervous System Depressants Phase 3
17 Cyclooxygenase Inhibitors Phase 3
18 Fibrinolytic Agents Phase 3
19 Peripheral Nervous System Agents Phase 3
20 Platelet Aggregation Inhibitors Phase 3
21
Losartan Approved Phase 2 114798-26-4 3961
22
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
23 Angiotensin II Type 1 Receptor Blockers Phase 2
24 Angiotensin Receptor Antagonists Phase 2
25 Angiotensinogen Phase 2
26 Anti-Arrhythmia Agents Phase 2
27 Antihypertensive Agents Phase 2
28 Vasoconstrictor Agents Phase 2
29
lanreotide Approved 108736-35-2
30
Octreotide Approved, Investigational 83150-76-9 383414 6400441
31
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
32
Pyruvate Approved, Nutraceutical
33 Angiopeptin
34 Hormone Antagonists
35 Hormones
36 Hormones, Hormone Substitutes, and Hormone Antagonists
37 diuretics
38 Tin Fluorides

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Unknown status NCT02431221 Phase 3
2 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3
3 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2
4 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
5 Study of Exercise Training in Hypertrophic Cardiomyopathy Completed NCT01127061
6 Cardiovascular Outcome After Surgery or Somatostatin Analogues Completed NCT00615004
7 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
8 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 7

Genetic Tests for Cardiomyopathy, Hypertrophic, 7

Genetic tests related to Cardiomyopathy, Hypertrophic, 7:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 7 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 7

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 7:

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 7

Variations for Cardiomyopathy, Hypertrophic, 7

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 7:

66 (show all 12)
id Symbol AA change Variation ID SNP ID
1 TNNI3 p.Arg145Gly VAR_007603 rs104894724
2 TNNI3 p.Lys206Gln VAR_007604 rs104894725
3 TNNI3 p.Pro82Ser VAR_016078 rs77615401
4 TNNI3 p.Asp190His VAR_016083
5 TNNI3 p.Asp196Asn VAR_016085 rs104894727
6 TNNI3 p.Arg141Gln VAR_019872 rs397516347
7 TNNI3 p.Ala157Val VAR_019873 rs397516353
8 TNNI3 p.Arg162Pro VAR_019874 rs397516354
9 TNNI3 p.Arg186Gln VAR_019876 rs397516357
10 TNNI3 p.Ser166Phe VAR_029454 rs727504242
11 TNNI3 p.Arg162Gln VAR_042745 rs397516354
12 TNNI3 p.Arg204His VAR_042746 rs727504275

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TNNI3 NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
2 TNNI3 NM_000363.4(TNNI3): c.616A> C (p.Lys206Gln) single nucleotide variant Pathogenic rs104894725 GRCh37 Chromosome 19, 55663219: 55663219
3 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
4 TNNI3 NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 GRCh37 Chromosome 19, 55663266: 55663266
5 TNNI3 NM_000363.4(TNNI3): c.607G> A (p.Gly203Ser) single nucleotide variant Pathogenic rs267607127 GRCh37 Chromosome 19, 55663228: 55663228
6 TNNI3 TNNI3, 3-BP DEL, LYS183 deletion Pathogenic
7 TNNI3 NM_000363.4(TNNI3): c.61C> T (p.Arg21Cys) single nucleotide variant Pathogenic rs267607128 GRCh37 Chromosome 19, 55668465: 55668465
8 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462

Expression for Cardiomyopathy, Hypertrophic, 7

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 7.

Pathways for Cardiomyopathy, Hypertrophic, 7

GO Terms for Cardiomyopathy, Hypertrophic, 7

Sources for Cardiomyopathy, Hypertrophic, 7

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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