CMH7
MCID: CRD062
MIFTS: 23

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 58 13 74
Cmh7 58 12 76
Cardiomyopathy, Familial Hypertrophic 7 12 76
Familial Hypertrophic Cardiomyopathy 7 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 7 41
Cardiomyopathy, Hypertrophic, 7 58
Hypertrophic Cardiomyopathy 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, familial hypertrophic, 7:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110313
OMIM 58 613690
MeSH 45 D024741
UMLS 74 C1860752

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : 76 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, is also known as cmh7. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (Troponin I3, Cardiac Type). Affiliated tissues include heart, 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.

Description from OMIM: 613690

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 cardiomyopathy 33 HP:0001638
3 ventricular hypertrophy 33 HP:0001714

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TNNI3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

(show all 12)
# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
5
Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. ( 18175163 )
2008
6
Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. ( 18430738 )
2008
7
Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )
2005
8
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. ( 12531876 )
2003
9
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. ( 11801593 )
2002
10
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. ( 11815426 )
2002
11
Troponin I: inhibitor or facilitator. ( 10098965 )
1999
12
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. ( 9241277 )
1997

Variations for Cardiomyopathy, Familial Hypertrophic, 7

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

76 (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

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

6 (show all 29)
# 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.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
3 TNNI3 NM_000363.4(TNNI3): c.616A> C (p.Lys206Gln) single nucleotide variant Pathogenic rs104894725 GRCh37 Chromosome 19, 55663219: 55663219
4 TNNI3 NM_000363.4(TNNI3): c.616A> C (p.Lys206Gln) single nucleotide variant Pathogenic rs104894725 GRCh38 Chromosome 19, 55151851: 55151851
5 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
6 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
7 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh37 Chromosome 19, 55663249: 55663249
8 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh38 Chromosome 19, 55151881: 55151881
9 TNNI3 NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 GRCh37 Chromosome 19, 55663266: 55663266
10 TNNI3 NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104894728 GRCh38 Chromosome 19, 55151898: 55151898
11 TNNI3 NM_000363.4(TNNI3): c.607G> A (p.Gly203Ser) single nucleotide variant Pathogenic rs267607127 GRCh37 Chromosome 19, 55663228: 55663228
12 TNNI3 NM_000363.4(TNNI3): c.607G> A (p.Gly203Ser) single nucleotide variant Pathogenic rs267607127 GRCh38 Chromosome 19, 55151860: 55151860
13 TNNI3 TNNI3, 3-BP DEL, LYS183 deletion Pathogenic
14 TNNI3 NM_000363.4(TNNI3): c.61C> T (p.Arg21Cys) single nucleotide variant Pathogenic rs267607128 GRCh37 Chromosome 19, 55668465: 55668465
15 TNNI3 NM_000363.4(TNNI3): c.61C> T (p.Arg21Cys) single nucleotide variant Pathogenic rs267607128 GRCh38 Chromosome 19, 55157097: 55157097
16 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh37 Chromosome 19, 55665513: 55665513
17 TNNI3 NM_000363.4(TNNI3): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516349 GRCh38 Chromosome 19, 55154145: 55154145
18 TNNI3 NM_000363.4(TNNI3): c.470C> T (p.Ala157Val) single nucleotide variant Pathogenic rs397516353 GRCh37 Chromosome 19, 55665477: 55665477
19 TNNI3 NM_000363.4(TNNI3): c.470C> T (p.Ala157Val) single nucleotide variant Pathogenic rs397516353 GRCh38 Chromosome 19, 55154109: 55154109
20 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh37 Chromosome 19, 55665462: 55665462
21 TNNI3 NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516354 GRCh38 Chromosome 19, 55154094: 55154094
22 TNNI3 NM_000363.4(TNNI3): c.484C> T (p.Arg162Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs368861241 GRCh37 Chromosome 19, 55665463: 55665463
23 TNNI3 NM_000363.4(TNNI3): c.484C> T (p.Arg162Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs368861241 GRCh38 Chromosome 19, 55154095: 55154095
24 TNNI3 NM_000363.4(TNNI3): c.497C> T (p.Ser166Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs727504242 GRCh38 Chromosome 19, 55154082: 55154082
25 TNNI3 NM_000363.4(TNNI3): c.497C> T (p.Ser166Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs727504242 GRCh37 Chromosome 19, 55665450: 55665450
26 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
27 TNNI3 NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
28 TNNI3 NM_000363.4(TNNI3): c.596G> A (p.Ser199Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881091 GRCh38 Chromosome 19, 55151871: 55151871
29 TNNI3 NM_000363.4(TNNI3): c.596G> A (p.Ser199Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881091 GRCh37 Chromosome 19, 55663239: 55663239

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

Sources for Cardiomyopathy, Familial Hypertrophic, 7

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75 UMLS via Orphanet
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