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 ⁵⁷ ¹³ ⁷³

Cmh7 ⁵⁷ ¹² ⁷⁵

Cardiomyopathy, Familial Hypertrophic 7 ¹² ⁷⁵

Familial Hypertrophic Cardiomyopathy 7 ²⁹ ⁶

Cardiomyopathy, Hypertrophic, Familial, Type 7 ⁴⁰

Cardiomyopathy, Hypertrophic, 7 ⁵⁷

Hypertrophic Cardiomyopathy 7 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613690

Disease Ontology ¹² DOID:0110313

MedGen ⁴² C1860752 CN069699

MeSH ⁴⁴ D024741

SNOMED-CT via HPO ⁶⁹ 263681008 57809008 85898001 more

UMLS ⁷³ C1860752

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Summaries for Cardiomyopathy, Familial Hypertrophic, 7

UniProtKB/Swiss-Prot : ⁷⁵ 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 cardiomyopathy and ventricular hypertrophy

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

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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, 19
Cardiomyopathy, Familial Hypertrophic, 20	Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

613690

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

³²

#	Description	HPO Frequency	HPO Source Accession
1	cardiomyopathy ³²		HP:0001638
2	ventricular hypertrophy ³²		HP:0001714
3	atrial fibrillation ³²	occasional (7.5%)	HP:0005110

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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 ²⁹	TNNI3

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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

⁴¹

Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 7

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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	1353.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	9241277 21267010 23788249 (more) 25356965 27854360 16267253 10098965 12531876 11801593 18430738 11815426 18175163

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Variations for Cardiomyopathy, Familial Hypertrophic, 7

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

⁷⁵ (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 23)

#	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	Pathogenic/Likely pathogenic	rs104894727	GRCh37	Chromosome 19, 55663249: 55663249
8	TNNI3	NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn)	single nucleotide variant	Pathogenic/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.470C> T (p.Ala157Val)	single nucleotide variant	Pathogenic	rs397516353	GRCh37	Chromosome 19, 55665477: 55665477
17	TNNI3	NM_000363.4(TNNI3): c.470C> T (p.Ala157Val)	single nucleotide variant	Pathogenic	rs397516353	GRCh38	Chromosome 19, 55154109: 55154109
18	TNNI3	NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516354	GRCh37	Chromosome 19, 55665462: 55665462
19	TNNI3	NM_000363.4(TNNI3): c.485G> A (p.Arg162Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397516354	GRCh38	Chromosome 19, 55154094: 55154094
20	TNNI3	NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs727503504	GRCh37	Chromosome 19, 55665439: 55665439
21	TNNI3	NM_000363.4(TNNI3): c.508C> G (p.Arg170Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs727503504	GRCh38	Chromosome 19, 55154071: 55154071
22	TNNI3	NM_000363.4(TNNI3): c.596G> A (p.Ser199Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs730881091	GRCh38	Chromosome 19, 55151871: 55151871
23	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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