CMH13
MCID: CRD061
MIFTS: 23

Cardiomyopathy, Familial Hypertrophic, 13 (CMH13)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 13:

Name: Cardiomyopathy, Familial Hypertrophic, 13 58 13 74
Cmh13 58 12 76
Familial Hypertrophic Cardiomyopathy 13 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 13 41
Cardiomyopathy, Familial Hypertrophic 13 76
Cardiomyopathy Familial Hypertrophic 13 12
Cardiomyopathy, Hypertrophic, 13 58
Hypertrophic Cardiomyopathy 13 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset from first to sixth decade of life


HPO:

33
cardiomyopathy, familial hypertrophic, 13:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 13: 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, 13, is also known as cmh13, and has symptoms including chest pain and dyspnea on exertion. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 13 is TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type). Affiliated tissues include heart, and related phenotypes are atrial fibrillation and right bundle branch block

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNC1 gene on chromosome 3p21.

Description from OMIM: 613243

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 13

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 right bundle branch block 33 occasional (7.5%) HP:0011712
3 left anterior fascicular block 33 occasional (7.5%) HP:0011711
4 hypertrophic cardiomyopathy 33 HP:0001639
5 dyspnea 33 HP:0002094
6 chest pain 33 HP:0100749
7 syncope 33 HP:0001279
8 ventricular fibrillation 33 HP:0001663
9 st segment depression 33 HP:0012250
10 biventricular hypertrophy 33 HP:0200128

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
chest pain
dyspnea on exertion
atrial fibrillation (in some patients)
syncope, with or without exertion
left anterior hemiblock (in some patients)
more

Clinical features from OMIM:

613243

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 13:


chest pain, dyspnea on exertion

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 13

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 13

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 13

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 13:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 13 30 TNNC1

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 13:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 13

Articles related to Cardiomyopathy, Familial Hypertrophic, 13:

# Title Authors Year
1
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. ( 22815480 )
2012
2
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
3
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. ( 18572189 )
2008
4
Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. ( 16302972 )
2005
5
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. ( 11385718 )
2001

Variations for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

76
# Symbol AA change Variation ID SNP ID
1 TNNC1 p.Leu29Gln VAR_019776 rs267607123
2 TNNC1 p.Ala8Val VAR_063070 rs267607125
3 TNNC1 p.Cys84Tyr VAR_063071 rs267607126
4 TNNC1 p.Glu134Asp VAR_063072 rs397516847
5 TNNC1 p.Asp145Glu VAR_063073 rs267607124

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 13:

6 (show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNC1 NM_003280.2(TNNC1): c.86T> A (p.Leu29Gln) single nucleotide variant Uncertain significance rs267607123 GRCh37 Chromosome 3, 52486238: 52486238
2 TNNC1 NM_003280.2(TNNC1): c.86T> A (p.Leu29Gln) single nucleotide variant Uncertain significance rs267607123 GRCh38 Chromosome 3, 52452222: 52452222
3 TNNC1 NM_003280.2(TNNC1): c.23C> T (p.Ala8Val) single nucleotide variant Conflicting interpretations of pathogenicity rs267607125 GRCh37 Chromosome 3, 52488009: 52488009
4 TNNC1 NM_003280.2(TNNC1): c.23C> T (p.Ala8Val) single nucleotide variant Conflicting interpretations of pathogenicity rs267607125 GRCh38 Chromosome 3, 52453993: 52453993
5 TNNC1 NM_003280.2(TNNC1): c.251G> A (p.Cys84Tyr) single nucleotide variant Pathogenic rs267607126 GRCh37 Chromosome 3, 52485826: 52485826
6 TNNC1 NM_003280.2(TNNC1): c.251G> A (p.Cys84Tyr) single nucleotide variant Pathogenic rs267607126 GRCh38 Chromosome 3, 52451810: 52451810
7 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh37 Chromosome 3, 52485426: 52485426
8 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh38 Chromosome 3, 52451410: 52451410
9 TNNC1 NM_003280.2(TNNC1): c.91G> T (p.Ala31Ser) single nucleotide variant Pathogenic rs397514616 GRCh37 Chromosome 3, 52486233: 52486233
10 TNNC1 NM_003280.2(TNNC1): c.91G> T (p.Ala31Ser) single nucleotide variant Pathogenic rs397514616 GRCh38 Chromosome 3, 52452217: 52452217
11 TNNC1 NM_003280.2(TNNC1): c.210C> T (p.Gly70=) single nucleotide variant Conflicting interpretations of pathogenicity rs141505676 GRCh37 Chromosome 3, 52485867: 52485867
12 TNNC1 NM_003280.2(TNNC1): c.210C> T (p.Gly70=) single nucleotide variant Conflicting interpretations of pathogenicity rs141505676 GRCh38 Chromosome 3, 52451851: 52451851
13 TNNC1 NM_003280.2(TNNC1): c.402G> T (p.Glu134Asp) single nucleotide variant Uncertain significance rs397516847 GRCh37 Chromosome 3, 52485459: 52485459
14 TNNC1 NM_003280.2(TNNC1): c.402G> T (p.Glu134Asp) single nucleotide variant Uncertain significance rs397516847 GRCh38 Chromosome 3, 52451443: 52451443
15 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 GRCh37 Chromosome 3, 52485419: 52485419
16 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 GRCh38 Chromosome 3, 52451403: 52451403
17 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 NCBI36 Chromosome 3, 52460459: 52460459
18 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh37 Chromosome 3, 52485879: 52485879
19 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh38 Chromosome 3, 52451863: 52451863
20 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh38 Chromosome 3, 52452107: 52452107
21 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh37 Chromosome 3, 52486123: 52486123
22 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh38 Chromosome 3, 52452200: 52452200
23 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh37 Chromosome 3, 52486216: 52486216
24 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs730881061 GRCh37 Chromosome 3, 52485431: 52485431
25 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs730881061 GRCh38 Chromosome 3, 52451415: 52451415
26 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh38 Chromosome 3, 52451799: 52451799
27 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh37 Chromosome 3, 52485815: 52485815
28 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh37 Chromosome 3, 52486169: 52486169
29 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh38 Chromosome 3, 52452153: 52452153
30 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh37 Chromosome 3, 52486528: 52486528
31 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh38 Chromosome 3, 52452512: 52452512
32 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh37 Chromosome 3, 52485525: 52485525
33 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh38 Chromosome 3, 52451509: 52451509
34 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh37 Chromosome 3, 52486135: 52486135
35 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh38 Chromosome 3, 52452119: 52452119
36 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh37 Chromosome 3, 52485321: 52485321
37 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh38 Chromosome 3, 52451305: 52451305
38 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh38 Chromosome 3, 52452236: 52452236
39 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh37 Chromosome 3, 52486252: 52486252
40 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh38 Chromosome 3, 52452474: 52452474
41 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh37 Chromosome 3, 52486490: 52486490
42 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh37 Chromosome 3, 52486234: 52486234
43 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh38 Chromosome 3, 52452218: 52452218
44 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh38 Chromosome 3, 52451384: 52451384
45 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh37 Chromosome 3, 52485400: 52485400
46 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh37 Chromosome 3, 52485428: 52485428
47 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh38 Chromosome 3, 52451412: 52451412
48 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh37 Chromosome 3, 52485864: 52485864
49 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh38 Chromosome 3, 52451848: 52451848
50 TNNC1 NM_003280.2(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 GRCh37 Chromosome 3, 52487999: 52487999

Expression for Cardiomyopathy, Familial Hypertrophic, 13

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Pathways for Cardiomyopathy, Familial Hypertrophic, 13

GO Terms for Cardiomyopathy, Familial Hypertrophic, 13

Sources for Cardiomyopathy, Familial Hypertrophic, 13

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