MCID: CRD062
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 7

Categories: Genetic diseases, Cardiovascular 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 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:



External Ids:

OMIM 57 613690
Disease Ontology 12 DOID:0110313
MeSH 44 D024741
UMLS 73 C1860752

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

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

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

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 7

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

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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