CMH7
MCID: CRD062
MIFTS: 32

Cardiomyopathy, Familial Hypertrophic, 7 (CMH7)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 7:

Name: Cardiomyopathy, Familial Hypertrophic, 7 57 13 70
Cmh7 57 12 72
Cardiomyopathy, Familial Hypertrophic 7 12 72
Familial Hypertrophic Cardiomyopathy 7 29 6
Hypertrophic Cardiomyopathy 7 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 7 39
Cardiomyopathy, Hypertrophic, 7 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 613690
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
UMLS 70 C1860752

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : 72 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 intrinsic cardiomyopathy and restrictive cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). 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 intrinsic cardiomyopathy 9.9 TNNI3 CSRP3
2 restrictive cardiomyopathy 9.9 TNNI3 CSRP3
3 atrial standstill 1 9.8 TNNI3 CSRP3
4 left ventricular noncompaction 9.7 TNNI3 CSRP3
5 cardiomyopathy, dilated, 1p 9.6 TMED2 PNPLA4 CDC42SE1
6 cardiomyopathy, dilated, 1m 9.1 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

(show all 28)
# Title Authors PMID Year
1
Gene mutations in apical hypertrophic cardiomyopathy. 6 57
16267253 2005
2
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 57 6
11815426 2002
3
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 57 6
9241277 1997
4
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 6
24113344 2014
5
Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. 6
23270746 2013
6
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 6
22876777 2012
7
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 6
22429680 2012
8
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 6
21511876 2011
9
Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 6
21799269 2011
10
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 6
18175163 2008
11
Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. 6
18430738 2008
12
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 6
15698845 2005
13
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 6
15607392 2004
14
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 6
12860912 2003
15
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 6
12531876 2003
16
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 6
11801593 2002
17
Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 6
11735257 2001
18
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 6
10806205 2000
19
Troponin I: inhibitor or facilitator. 6
10098965 1999
20
Incidence and Etiology of Sudden Cardiac Arrest and Death in High School Athletes in the United States. 61
27692971 2016
21
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
22
Day-to-day reproducibility of Holter beat-by-beat analysis of repolarisation. 61
12846507 2003
23
[Functional maneuvers for the diagnosis of hypertrophic cardiomyopathies with and without left ventricular outflow obstruction]. 61
8104697 1993
24
[Mitral annulus calcification: clinical observation on 72 patients]. 61
1677408 1991
25
The progression of hypertrophic cardiomyopathy: dilatation of the left ventricle with supernormal systolic function. 61
2137433 1990
26
[Hypertrophic cardiomyopathy. Correlation between the morphologic-quantitative data of the 2-dimensional echocardiogram and electro-vectorcardiographic aspects]. 61
3743930 1986
27
Twenty-five years of progress in the medical treatment of pediatric and congenital heart disease. 61
6131085 1983
28
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 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNI3 NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) SNV Pathogenic 12420 rs104894725 GRCh37: 19:55663219-55663219
GRCh38: 19:55151851-55151851
2 TNNI3 NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) SNV Pathogenic 12423 rs104894728 GRCh37: 19:55663266-55663266
GRCh38: 19:55151898-55151898
3 TNNI3 NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) SNV Pathogenic 12432 rs267607127 GRCh37: 19:55663228-55663228
GRCh38: 19:55151860-55151860
4 TNNI3 TNNI3, 3-BP DEL, LYS183 Deletion Pathogenic 12433 GRCh37:
GRCh38:
5 TNNI3 NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) SNV Pathogenic 12434 rs267607128 GRCh37: 19:55668465-55668465
GRCh38: 19:55157097-55157097
6 TNNI3 NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) SNV Pathogenic 12419 rs104894724 GRCh37: 19:55665514-55665514
GRCh38: 19:55154146-55154146
7 TNNI3 NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) SNV Pathogenic 12422 rs104894727 GRCh37: 19:55663249-55663249
GRCh38: 19:55151881-55151881
8 TNNI3 NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) SNV Pathogenic 43389 rs397516354 GRCh37: 19:55665462-55665462
GRCh38: 19:55154094-55154094
9 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) SNV Pathogenic 43388 rs397516353 GRCh37: 19:55665477-55665477
GRCh38: 19:55154109-55154109
10 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV Pathogenic 43384 rs397516349 GRCh37: 19:55665513-55665513
GRCh38: 19:55154145-55154145
11 TNNI3 NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) SNV Pathogenic 43395 rs397516357 GRCh37: 19:55663278-55663278
GRCh38: 19:55151910-55151910
12 TNNI3 NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) SNV Pathogenic 12425 rs104894730 GRCh37: 19:55665415-55665415
GRCh38: 19:55154047-55154047
13 TNNI3 NM_000363.5(TNNI3):c.258del (p.Leu88fs) Deletion Pathogenic 165522 rs727503507 GRCh37: 19:55667593-55667593
GRCh38: 19:55156225-55156225
14 TNNI3 NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) SNV Pathogenic/Likely pathogenic 161396 rs368861241 GRCh37: 19:55665463-55665463
GRCh38: 19:55154095-55154095
15 TNNI3 NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) SNV Likely pathogenic 177630 rs727504242 GRCh37: 19:55665450-55665450
GRCh38: 19:55154082-55154082
16 TNNI3 NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) SNV Likely pathogenic 165517 rs727503504 GRCh37: 19:55665439-55665439
GRCh38: 19:55154071-55154071
17 TNNI3 NM_000363.5(TNNI3):c.372+7C>T SNV Uncertain significance 165519 rs367809676 GRCh37: 19:55666102-55666102
GRCh38: 19:55154734-55154734
18 TNNI3 NM_000363.5(TNNI3):c.550-11C>T SNV Uncertain significance 330198 rs886054635 GRCh37: 19:55663296-55663296
GRCh38: 19:55151928-55151928
19 TNNI3 NM_000363.5(TNNI3):c.283-9C>T SNV Uncertain significance 330199 rs759922995 GRCh37: 19:55666207-55666207
GRCh38: 19:55154839-55154839
20 FHOD3 NM_025135.5(FHOD3):c.1418T>C (p.Ile473Thr) SNV Uncertain significance 873501 GRCh37: 18:34261506-34261506
GRCh38: 18:36681543-36681543
21 TNNI3 NM_000363.5(TNNI3):c.-45C>T SNV Uncertain significance 893021 GRCh37: 19:55669002-55669002
GRCh38: 19:55157634-55157634
22 TNNI3 NM_000363.5(TNNI3):c.373-15C>G SNV Uncertain significance 43377 rs192630178 GRCh37: 19:55665589-55665589
GRCh38: 19:55154221-55154221
23 TNNI3 NM_000363.5(TNNI3):c.109-15A>G SNV Uncertain significance 229330 rs779144176 GRCh37: 19:55668027-55668027
GRCh38: 19:55156659-55156659
24 TNNI3 NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) SNV Uncertain significance 894052 GRCh37: 19:55668422-55668422
GRCh38: 19:55157054-55157054
25 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) SNV Uncertain significance 894093 GRCh37: 19:55672066-55672066
GRCh38: 19:55160698-55160698
26 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser) SNV Uncertain significance 894094 GRCh37: 19:55673190-55673190
GRCh38: 19:55161822-55161822
27 TNNI3 NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) SNV Uncertain significance 894379 GRCh37: 19:55665481-55665481
GRCh38: 19:55154113-55154113
28 TNNI3 NM_000363.5(TNNI3):c.373-4C>G SNV Uncertain significance 43378 rs2288530 GRCh37: 19:55665578-55665578
GRCh38: 19:55154210-55154210
29 TNNI3 NM_000363.5(TNNI3):c.206G>A (p.Arg69His) SNV Uncertain significance 992364 GRCh37: 19:55667645-55667645
GRCh38: 19:55156277-55156277
30 TNNI3 NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) SNV Uncertain significance 181603 rs730881091 GRCh37: 19:55663239-55663239
GRCh38: 19:55151871-55151871
31 TNNI3 NM_000363.5(TNNI3):c.*44A>G SNV Uncertain significance 893714 GRCh37: 19:55663158-55663158
GRCh38: 19:55151790-55151790
32 TNNI3 NM_000363.5(TNNI3):c.151-6C>G SNV Uncertain significance 43363 rs377258542 GRCh37: 19:55667706-55667706
GRCh38: 19:55156338-55156338
33 TNNI3 NM_000363.5(TNNI3):c.139T>C (p.Leu47=) SNV Uncertain significance 137685 rs587780967 GRCh37: 19:55667982-55667982
GRCh38: 19:55156614-55156614
34 TNNI3 NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly) SNV Uncertain significance 575867 rs777177571 GRCh37: 19:55666134-55666134
GRCh38: 19:55154766-55154766
35 TNNI3 NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) SNV Likely benign 43367 rs3729712 GRCh37: 19:55667616-55667616
GRCh38: 19:55156248-55156248
36 TNNI3 NM_000363.5(TNNI3):c.273G>A (p.Ala91=) SNV Likely benign 43372 rs75491697 GRCh37: 19:55667578-55667578
GRCh38: 19:55156210-55156210
37 TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) SNV Likely benign 12421 rs77615401 GRCh37: 19:55667607-55667607
GRCh38: 19:55156239-55156239
38 TNNI3 NM_000363.5(TNNI3):c.-98C>A SNV Likely benign 188666 GRCh37: 19:55669055-55669055
GRCh38: 19:55157687-55157687
39 TNNI3 , DNAAF3 NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) SNV Likely benign 257685 rs111250144 GRCh37: 19:55670808-55670808
GRCh38: 19:55159440-55159440
40 TNNI3 NM_000363.5(TNNI3):c.*35C>T SNV Likely benign 188677 rs375447438 GRCh37: 19:55663167-55663167
GRCh38: 19:55151799-55151799
41 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.204G>T (p.Arg68=) SNV Benign 43366 rs3729711 GRCh37: 19:55667647-55667647
GRCh38: 19:55156279-55156279
42 TNNI3 NM_000363.5(TNNI3):c.198G>A (p.Glu66=) SNV Benign 43364 rs3729710 GRCh37: 19:55667653-55667653
GRCh38: 19:55156285-55156285
43 TNNI3 NM_000363.5(TNNI3):c.-47C>T SNV Benign 188667 rs202159627 GRCh37: 19:55669004-55669004
GRCh38: 19:55157636-55157636
44 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.25-8T>A SNV Benign 43371 rs3729836 GRCh37: 19:55668509-55668509
GRCh38: 19:55157141-55157141
45 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.-35C>A SNV Benign 137687 rs3729707 GRCh37: 19:55668992-55668992
GRCh38: 19:55157624-55157624
46 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.537G>A (p.Glu179=) SNV Benign 43391 rs3729841 GRCh37: 19:55665410-55665410
GRCh38: 19:55154042-55154042
47 DNAAF3 , TNNT1 , TNNI3 NM_000363.5(TNNI3):c.373-10= SNV Benign 36881 rs7252610 GRCh37: 19:55665584-55665584
GRCh38: 19:55154216-55154216
48 DNAAF3 , TNNI3 NM_000363.5(TNNI3):c.150+13G>A SNV Benign 43362 rs73617692 GRCh37: 19:55667958-55667958
GRCh38: 19:55156590-55156590

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

72 (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 heart development GO:0007507 9.26 TNNI3 CSRP3
2 cellular calcium ion homeostasis GO:0006874 9.16 TNNI3 CSRP3
3 negative regulation of GTPase activity GO:0034260 8.96 TMED2 CDC42SE1
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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