Cardiomyopathy, Familial Hypertrophic, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110313

OMIM ⁵⁸ 613690

MeSH ⁴⁵ D024741

MedGen ⁴³ C1860752 CN069699

SNOMED-CT via HPO ⁷⁰ 263681008 266249003 49436004 more

UMLS ⁷⁴ C1860752

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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

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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

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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

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

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

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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

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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

⁴²

Heart

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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 )	Kalia SS...Miller DT	2017
2	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )	ACMG Board of Directors	2015
3	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )	Green RC...American College of Medical Genetics and Genomics	2013
4	Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )	Pinto YM...Elliott PM	2011
5	Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. ( 18175163 )	Frazier A...Murphy AM	2008
6	Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. ( 18430738 )	Wen Y...Kerrick WG	2008
7	Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )	Arad M...Seidman CE	2005
8	Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. ( 12531876 )	Mogensen J...McKenna WJ	2003
9	Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. ( 11801593 )	Lang R...Potter JD	2002
10	Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. ( 11815426 )	Niimura H...Seidman CE	2002
11	Troponin I: inhibitor or facilitator. ( 10098965 )	Perry SV	1999
12	Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. ( 9241277 )	Kimura A...Sasazuki T	1997

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Genes for Cardiomyopathy, Familial Hypertrophic, 7

Genes related to Cardiomyopathy, Familial Hypertrophic, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNNI3	Troponin I3, Cardiac Type	Protein Coding	1353.48	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	9241277 21267010 23788249 (more) 25356965 27854360 11815426 18175163 10098965 12531876 16267253 11801593 18430738

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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

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Expression for Cardiomyopathy, Familial Hypertrophic, 7

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

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Pathways for Cardiomyopathy, Familial Hypertrophic, 7

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 7

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Cardiomyopathy, Familial Hypertrophic, 7 (CMH7)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

Diseases in the Hypertrophic Cardiomyopathy family:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 7

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 7:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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

Publications for Cardiomyopathy, Familial Hypertrophic, 7

Articles related to Cardiomyopathy, Familial Hypertrophic, 7:

Genes for Cardiomyopathy, Familial Hypertrophic, 7

Genes related to Cardiomyopathy, Familial Hypertrophic, 7 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 7

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

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

Expression for Cardiomyopathy, Familial Hypertrophic, 7

Pathways for Cardiomyopathy, Familial Hypertrophic, 7

GO Terms for Cardiomyopathy, Familial Hypertrophic, 7

Sources for Cardiomyopathy, Familial Hypertrophic, 7