CMH7
MCID: CRD062
MIFTS: 35

Cardiomyopathy, Familial Hypertrophic, 7 (CMH7)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 7:

Name: Cardiomyopathy, Familial Hypertrophic, 7 56 13 71
Cmh7 56 12 73
Cardiomyopathy, Familial Hypertrophic 7 12 73
Familial Hypertrophic Cardiomyopathy 7 29 6
Cardiomyopathy, Hypertrophic, 7 56 29
Hypertrophic Cardiomyopathy 7 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 7 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
sudden cardiac death in some families


HPO:

31
cardiomyopathy, familial hypertrophic, 7:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110313
OMIM 56 613690
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
UMLS 71 C1860752

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : 73 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, Familial Hypertrophic, 7, also known as cmh7, is related to familial isolated dilated cardiomyopathy and intrinsic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart and testes, and related phenotypes are atrial fibrillation and cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.

More information from OMIM: 613690 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

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

# Related Disease Score Top Affiliating Genes
1 familial isolated dilated cardiomyopathy 9.9 TNNI3 CSRP3
2 intrinsic cardiomyopathy 9.8 TNNI3 CSRP3
3 atrial standstill 1 9.8 TNNI3 CSRP3
4 restrictive cardiomyopathy 9.7 TNNI3 CSRP3
5 left ventricular noncompaction 9.5 TNNI3 CSRP3
6 cardiomyopathy, dilated, 1p 9.4 TMED2 PNPLA4 CDC42SE1
7 cardiomyopathy, dilated, 1m 8.7 TNNI3 TMED2 PNPLA4 CSRP3 CDC42SE1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 7:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 7

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 cardiomyopathy 31 HP:0001638
3 ventricular hypertrophy 31 HP:0001714

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
ventricular hypertrophy
atrial fibrillation (in some patients)
apical hypertrophy (in some patients)
ventricular preexcitation, wolff-parkinson-white (in some patients)

Clinical features from OMIM:

613690

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 CSRP3 PNPLA4 TMED2

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 7

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 7

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 7:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 7 29 TNNI3
2 Cardiomyopathy, Hypertrophic, 7 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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

40
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

(show all 37)
# Title Authors PMID Year
1
Gene mutations in apical hypertrophic cardiomyopathy. 6 56
16267253 2005
2
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 56 6
11815426 2002
3
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 6 56
9241277 1997
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
5
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
6
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). 6
25173338 2014
7
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
8
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
9
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
10
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
11
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
12
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
13
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 6
18175163 2008
14
Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. 6
18430738 2008
15
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
16
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
17
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
18
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
19
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
20
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
21
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
22
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 6
12531876 2003
23
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 6
11801593 2002
24
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
25
Troponin I: inhibitor or facilitator. 6
10098965 1999
26
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
27
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
28
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
29
Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States. 61
27692971 2016
30
Morphologic features of the recipient heart in patients having cardiac transplantation and analysis of the congruence or incongruence between the clinical and morphologic diagnoses. 61
25181314 2014
31
Day-to-day reproducibility of Holter beat-by-beat analysis of repolarisation. 61
12846507 2003
32
[Functional maneuvers for the diagnosis of hypertrophic cardiomyopathies with and without left ventricular outflow obstruction]. 61
8104697 1993
33
[Mitral annulus calcification: clinical observation on 72 patients]. 61
1677408 1991
34
The progression of hypertrophic cardiomyopathy: dilatation of the left ventricle with supernormal systolic function. 61
2137433 1990
35
[Hypertrophic cardiomyopathy. Correlation between the morphologic-quantitative data of the 2-dimensional echocardiogram and electro-vectorcardiographic aspects]. 61
3743930 1986
36
Twenty-five years of progress in the medical treatment of pediatric and congenital heart disease. 61
6131085 1983
37
Echocardiographic assessment of left ventricular wall motion in hypertrophic cardiomyopathy. 61
6892016 1982

Variations for Cardiomyopathy, Familial Hypertrophic, 7

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI3 NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)SNV Pathogenic 12423 rs104894728 19:55663266-55663266 19:55151898-55151898
2 TNNI3 NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)SNV Pathogenic 12432 rs267607127 19:55663228-55663228 19:55151860-55151860
3 TNNI3 TNNI3, 3-BP DEL, LYS183deletion Pathogenic 12433
4 TNNI3 NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)SNV Pathogenic 12434 rs267607128 19:55668465-55668465 19:55157097-55157097
5 TNNI3 NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)SNV Pathogenic 12419 rs104894724 19:55665514-55665514 19:55154146-55154146
6 TNNI3 NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)SNV Pathogenic 12420 rs104894725 19:55663219-55663219 19:55151851-55151851
7 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)SNV Pathogenic 43388 rs397516353 19:55665477-55665477 19:55154109-55154109
8 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)SNV Pathogenic/Likely pathogenic 43389 rs397516354 19:55665462-55665462 19:55154094-55154094
9 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)SNV Pathogenic/Likely pathogenic 43384 rs397516349 19:55665513-55665513 19:55154145-55154145
10 TNNI3 NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)SNV Pathogenic/Likely pathogenic 161396 rs368861241 19:55665463-55665463 19:55154095-55154095
11 TNNI3 NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)SNV Likely pathogenic 12422 rs104894727 19:55663249-55663249 19:55151881-55151881
12 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)SNV Conflicting interpretations of pathogenicity 257685 rs111250144 19:55670808-55670808 19:55159440-55159440
13 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.537G>A (p.Glu179=)SNV Conflicting interpretations of pathogenicity 43391 rs3729841 19:55665410-55665410 19:55154042-55154042
14 TNNI3 NM_000363.5(TNNI3):c.139T>C (p.Leu47=)SNV Conflicting interpretations of pathogenicity 137685 rs587780967 19:55667982-55667982 19:55156614-55156614
15 TNNI3 NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)SNV Conflicting interpretations of pathogenicity 177630 rs727504242 19:55665450-55665450 19:55154082-55154082
16 TNNI3 NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)SNV Conflicting interpretations of pathogenicity 165517 rs727503504 19:55665439-55665439 19:55154071-55154071
17 TNNI3 NM_000363.5(TNNI3):c.372+7C>TSNV Conflicting interpretations of pathogenicity 165519 rs367809676 19:55666102-55666102 19:55154734-55154734
18 TNNI3 NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)SNV Conflicting interpretations of pathogenicity 181603 rs730881091 19:55663239-55663239 19:55151871-55151871
19 TNNI3 NM_000363.5(TNNI3):c.*35C>TSNV Conflicting interpretations of pathogenicity 188677 rs375447438 19:55663167-55663167 19:55151799-55151799
20 TNNI3 NM_000363.5(TNNI3):c.-47C>TSNV Conflicting interpretations of pathogenicity 188667 rs202159627 19:55669004-55669004 19:55157636-55157636
21 TNNI3 NM_000363.5(TNNI3):c.-98C>ASNV Conflicting interpretations of pathogenicity 188666 rs12973773 19:55669055-55669055 19:55157687-55157687
22 TNNI3 NM_000363.5(TNNI3):c.151-6C>GSNV Conflicting interpretations of pathogenicity 43363 rs377258542 19:55667706-55667706 19:55156338-55156338
23 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.204G>T (p.Arg68=)SNV Conflicting interpretations of pathogenicity 43366 rs3729711 19:55667647-55667647 19:55156279-55156279
24 TNNI3 NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)SNV Conflicting interpretations of pathogenicity 43367 rs3729712 19:55667616-55667616 19:55156248-55156248
25 TNNI3 NM_000363.5(TNNI3):c.273G>A (p.Ala91=)SNV Conflicting interpretations of pathogenicity 43372 rs75491697 19:55667578-55667578 19:55156210-55156210
26 TNNI3 NM_000363.5(TNNI3):c.373-15C>GSNV Conflicting interpretations of pathogenicity 43377 rs192630178 19:55665589-55665589 19:55154221-55154221
27 TNNI3 NM_000363.5(TNNI3):c.373-4C>GSNV Conflicting interpretations of pathogenicity 43378 rs2288530 19:55665578-55665578 19:55154210-55154210
28 DNAAF3 , TNNI3 , TNNT1 NM_000363.5(TNNI3):c.373-10=SNV Conflicting interpretations of pathogenicity 36881 rs7252610 19:55665584-55665584 19:55154216-55154216
29 TNNI3 NM_000363.5(TNNI3):c.283-9C>TSNV Conflicting interpretations of pathogenicity 330199 rs759922995 19:55666207-55666207 19:55154839-55154839
30 FHOD3 NM_025135.5(FHOD3):c.1418T>C (p.Ile473Thr)SNV Uncertain significance 873501 18:34261506-34261506 18:36681543-36681543
31 TNNI3 NM_000363.5(TNNI3):c.*44A>GSNV Uncertain significance 893714 19:55663158-55663158 19:55151790-55151790
32 TNNI3 NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)SNV Uncertain significance 894379 19:55665481-55665481 19:55154113-55154113
33 TNNI3 NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)SNV Uncertain significance 894052 19:55668422-55668422 19:55157054-55157054
34 TNNI3 NM_000363.5(TNNI3):c.-45C>TSNV Uncertain significance 893021 19:55669002-55669002 19:55157634-55157634
35 TNNI3 NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)SNV Uncertain significance 894093 19:55672066-55672066 19:55160698-55160698
36 TNNI3 NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)SNV Uncertain significance 894094 19:55673190-55673190 19:55161822-55161822
37 TNNI3 NM_000363.5(TNNI3):c.109-15A>GSNV Uncertain significance 229330 rs779144176 19:55668027-55668027 19:55156659-55156659
38 TNNI3 NM_000363.5(TNNI3):c.550-11C>TSNV Uncertain significance 330198 rs886054635 19:55663296-55663296 19:55151928-55151928
39 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.-35C>ASNV Benign/Likely benign 137687 rs3729707 19:55668992-55668992 19:55157624-55157624
40 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.150+13G>ASNV Benign/Likely benign 43362 rs73617692 19:55667958-55667958 19:55156590-55156590
41 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.25-8T>ASNV Benign/Likely benign 43371 rs3729836 19:55668509-55668509 19:55157141-55157141
42 TNNI3 NM_000363.5(TNNI3):c.198G>A (p.Glu66=)SNV Benign/Likely benign 43364 rs3729710 19:55667653-55667653 19:55156285-55156285
43 TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)SNV Benign/Likely benign 12421 rs77615401 19:55667607-55667607 19:55156239-55156239

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

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

Expression for Cardiomyopathy, Familial Hypertrophic, 7

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

Pathways for Cardiomyopathy, Familial Hypertrophic, 7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 7

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 8.62 TNNI3 CSRP3

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.16 TNNI3 CSRP3
2 negative regulation of GTPase activity GO:0034260 8.96 TMED2 CDC42SE1
3 cardiac muscle contraction GO:0060048 8.62 TNNI3 CSRP3

Sources for Cardiomyopathy, Familial Hypertrophic, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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