CMH13
MCID: CRD061
MIFTS: 29

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 57 13 72
Cmh13 57 12 74
Familial Hypertrophic Cardiomyopathy 13 29 6
Cardiomyopathy, Hypertrophic, 13 57 29
Cardiomyopathy, Hypertrophic, Familial, Type 13 40
Cardiomyopathy, Familial Hypertrophic 13 74
Cardiomyopathy Familial Hypertrophic 13 12
Hypertrophic Cardiomyopathy 13 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cardiomyopathy, familial hypertrophic, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110319
MeSH 44 D024741
MedGen 42 C2750472
UMLS 72 C2750472

Summaries for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot : 74 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 testes, 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.

More information from OMIM: 613243 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 13

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 32 occasional (7.5%) HP:0005110
2 right bundle branch block 32 occasional (7.5%) HP:0011712
3 left anterior fascicular block 32 occasional (7.5%) HP:0011711
4 hypertrophic cardiomyopathy 32 HP:0001639
5 dyspnea 32 HP:0002094
6 chest pain 32 HP:0100749
7 syncope 32 HP:0001279
8 ventricular fibrillation 32 HP:0001663
9 st segment depression 32 HP:0012250
10 biventricular hypertrophy 32 HP:0200128

Symptoms via clinical synopsis from OMIM:

57
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 29 TNNC1
2 Cardiomyopathy, Hypertrophic, 13 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 13

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

41
Heart, Testes

Publications for Cardiomyopathy, Familial Hypertrophic, 13

Articles related to Cardiomyopathy, Familial Hypertrophic, 13:

(show all 28)
# Title Authors PMID Year
1
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. 8 71
22815480 2012
2
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 8 71
18572189 2008
3
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. 8 71
16302972 2005
4
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 8 71
11385718 2001
5
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
6
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 71
22241583 2012
7
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
8
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 71
21267010 2011
9
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 71
19808356 2009
10
Hypertrophic Cardiomyopathy Overview 71
20301725 2008
11
Mutations in sarcomere protein genes in left ventricular noncompaction. 71
18506004 2008
12
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 71
18258667 2008
13
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 71
17611253 2007
14
Gene mutations in apical hypertrophic cardiomyopathy. 71
16267253 2005
15
Molecular and muscle pathology in a series of caveolinopathy patients. 71
15580566 2005
16
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 71
14672715 2004
17
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 71
14607462 2003
18
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 8
12974739 2003
19
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 8
12860912 2003
20
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 71
12767666 2003
21
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 71
10966831 2000
22
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 71
8889580 1996
23
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 71
8079988 1994
24
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 71
7459150 1980
25
Early diastolic mitral annular velocity at the interventricular septal annulus correctly reflects left ventricular longitudinal myocardial relaxation. 38
21908514 2011
26
Prevalence and persistence of depression in patients with implantable cardioverter defibrillator: a 2-year longitudinal study. 38
20946285 2010
27
Sudden unexpected death in persons less than 40 years of age. 38
1951130 1991
28
Abnormal left ventricular-left atrial posterior wall contour: a new two-dimensional echocardiographic sign in constrictive pericarditis. 38
2741779 1989

Variations for Cardiomyopathy, Familial Hypertrophic, 13

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

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNNC1 NM_003280.3(TNNC1): c.251G> A (p.Cys84Tyr) single nucleotide variant Pathogenic rs267607126 3:52485826-52485826 3:52451810-52451810
2 TNNC1 NM_003280.3(TNNC1): c.91G> T (p.Ala31Ser) single nucleotide variant Pathogenic rs397514616 3:52486233-52486233 3:52452217-52452217
3 TNNC1 NM_003280.3(TNNC1): c.210C> T (p.Gly70=) single nucleotide variant Conflicting interpretations of pathogenicity rs141505676 3:52485867-52485867 3:52451851-52451851
4 TNNC1 NM_003280.3(TNNC1): c.23C> T (p.Ala8Val) single nucleotide variant Conflicting interpretations of pathogenicity rs267607125 3:52488009-52488009 3:52453993-52453993
5 TNNC1 NM_003280.3(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs730881061 3:52485431-52485431 3:52451415-52451415
6 TNNC1 NM_003280.3(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 3:52485815-52485815 3:52451799-52451799
7 TNNC1 NM_003280.3(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 3:52486216-52486216 3:52452200-52452200
8 TNNC1 NM_003280.3(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 3:52485321-52485321 3:52451305-52451305
9 TNNC1 NM_003280.3(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 3:52486490-52486490 3:52452474-52452474
10 TNNC1 NM_003280.3(TNNC1): c.355A> G (p.Ile119Val) single nucleotide variant Uncertain significance 3:52485506-52485506 3:52451490-52451490
11 TNNC1 NM_003280.3(TNNC1): c.337G> A (p.Asp113Asn) single nucleotide variant Uncertain significance 3:52485524-52485524 3:52451508-52451508
12 TNNC1 NM_003280.3(TNNC1): c.328G> T (p.Gly110Cys) single nucleotide variant Uncertain significance 3:52485533-52485533 3:52451517-52451517
13 TNNC1 NM_003280.3(TNNC1): c.318-6C> G single nucleotide variant Uncertain significance 3:52485549-52485549 3:52451533-52451533
14 TNNC1 NM_003280.3(TNNC1): c.203-9C> G single nucleotide variant Uncertain significance 3:52485883-52485883 3:52451867-52451867
15 TNNC1 NM_003280.3(TNNC1): c.68C> A (p.Ala23Asp) single nucleotide variant Uncertain significance 3:52486256-52486256 3:52452240-52452240
16 TNNC1 NM_003280.3(TNNC1): c.391_393GAC[1] (p.Asp132del) short repeat Uncertain significance 3:52485465-52485467 3:52451449-52451451
17 TNNC1 NM_003280.3(TNNC1): c.419G> A (p.Gly140Glu) single nucleotide variant Uncertain significance 3:52485442-52485442 3:52451426-52451426
18 TNNC1 NM_003280.3(TNNC1): c.397A> G (p.Ile133Val) single nucleotide variant Uncertain significance 3:52485464-52485464 3:52451448-52451448
19 TNNC1 NM_003280.3(TNNC1): c.271G> A (p.Gly91Arg) single nucleotide variant Uncertain significance 3:52485806-52485806 3:52451790-52451790
20 TNNC1 NM_003280.3(TNNC1): c.55+5G> A single nucleotide variant Uncertain significance 3:52486494-52486494 3:52452478-52452478
21 TNNC1 NM_003280.3(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 3:52486135-52486135 3:52452119-52452119
22 TNNC1 NM_003280.3(TNNC1): c.469A> C (p.Met157Leu) single nucleotide variant Uncertain significance rs730880230 3:52485308-52485308 3:52451292-52451292
23 TNNC1 NM_003280.3(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 3:52486169-52486169 3:52452153-52452153
24 TNNC1 NM_003280.3(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 3:52486528-52486528 3:52452512-52452512
25 TNNC1 NM_003280.3(TNNC1): c.86T> A (p.Leu29Gln) single nucleotide variant Uncertain significance rs267607123 3:52486238-52486238 3:52452222-52452222
26 TNNC1 NM_003280.3(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 3:52485426-52485426 3:52451410-52451410
27 TNNC1 NM_003280.3(TNNC1): c.402G> T (p.Glu134Asp) single nucleotide variant Uncertain significance rs397516847 3:52485459-52485459 3:52451443-52451443
28 TNNC1 NM_003280.3(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 3:52485419-52485419 3:52451403-52451403
29 TNNC1 NM_003280.3(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 3:52485428-52485428 3:52451412-52451412
30 TNNC1 NM_003280.3(TNNC1): c.207C> G (p.Ser69Arg) single nucleotide variant Uncertain significance rs202173903 3:52485870-52485870 3:52451854-52451854
31 TNNC1 NM_003280.3(TNNC1): c.175dup (p.Glu59fs) duplication Uncertain significance rs1060502609 3:52486149-52486149 3:52452133-52452133
32 TNNC1 NM_003280.3(TNNC1): c.452A> T (p.Asp151Val) single nucleotide variant Uncertain significance rs1060502611 3:52485409-52485409 3:52451393-52451393
33 TNNC1 NM_003280.3(TNNC1): c.348G> T (p.Glu116Asp) single nucleotide variant Uncertain significance rs1060502610 3:52485513-52485513 3:52451497-52451497
34 TNNC1 NM_003280.3(TNNC1): c.473A> C (p.Lys158Thr) single nucleotide variant Uncertain significance rs1553651622 3:52485304-52485304 3:52451288-52451288
35 TNNC1 NM_003280.3(TNNC1): c.400G> A (p.Glu134Lys) single nucleotide variant Uncertain significance rs1553651640 3:52485461-52485461 3:52451445-52451445
36 TNNC1 NM_003280.3(TNNC1): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs147821122 3:52485468-52485468 3:52451452-52451452
37 TNNC1 NM_003280.3(TNNC1): c.186T> A (p.Asp62Glu) single nucleotide variant Uncertain significance rs1553651734 3:52486138-52486138 3:52452122-52452122
38 TNNC1 NM_003280.3(TNNC1): c.140T> G (p.Met47Arg) single nucleotide variant Uncertain significance rs1553651744 3:52486184-52486184 3:52452168-52452168
39 TNNC1 NM_003280.3(TNNC1): c.427_429AAC[1] (p.Asn144del) short repeat Uncertain significance rs1553651630 3:52485429-52485431 3:52451413-52451415
40 TNNC1 NM_003280.3(TNNC1): c.383T> C (p.Ile128Thr) single nucleotide variant Uncertain significance rs1553651649 3:52485478-52485478 3:52451462-52451462
41 TNNC1 NM_003280.3(TNNC1): c.157A> G (p.Thr53Ala) single nucleotide variant Uncertain significance rs1553651742 3:52486167-52486167 3:52452151-52452151
42 TNNC1 NM_003280.3(TNNC1): c.94G> A (p.Glu32Lys) single nucleotide variant Uncertain significance rs1553651750 3:52486230-52486230 3:52452214-52452214
43 TNNC1 NM_003280.3(TNNC1): c.195C> T (p.Asp65=) single nucleotide variant Likely benign rs370426309 3:52486129-52486129 3:52452113-52452113
44 TNNC1 NM_003280.3(TNNC1): c.387G> A (p.Thr129=) single nucleotide variant Likely benign rs397516845 3:52485474-52485474 3:52451458-52451458
45 TNNC1 NM_003280.3(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 3:52485864-52485864 3:52451848-52451848
46 TNNC1 NM_003280.3(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 3:52487999-52487999 3:52453983-52453983
47 TNNC1 NM_003280.3(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 3:52486234-52486234 3:52452218-52452218
48 TNNC1 NM_003280.3(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 3:52485400-52485400 3:52451384-52451384
49 TNNC1 NM_003280.3(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 3:52485525-52485525 3:52451509-52451509
50 TNNC1 NM_003280.3(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 3:52486252-52486252 3:52452236-52452236

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

74
# 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

Expression for Cardiomyopathy, Familial Hypertrophic, 13

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 13.

Pathways for Cardiomyopathy, Familial Hypertrophic, 13

GO Terms for Cardiomyopathy, Familial Hypertrophic, 13

Sources for Cardiomyopathy, Familial Hypertrophic, 13

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