CMH13
MCID: CRD061
MIFTS: 31

Cardiomyopathy, Familial Hypertrophic, 13 (CMH13)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 13

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 13:

Name: Cardiomyopathy, Familial Hypertrophic, 13 57 13 71
Cmh13 57 12 73
Familial Hypertrophic Cardiomyopathy 13 29 6
Cardiomyopathy, Hypertrophic, 13 57 29
Hypertrophic Cardiomyopathy 13 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 13 39
Cardiomyopathy, Familial Hypertrophic 13 73
Cardiomyopathy Familial Hypertrophic 13 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, familial hypertrophic, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110319
OMIM® 57 613243
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C2750472
UMLS 71 C2750472

Summaries for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot : 73 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, also known as cmh13, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, dilated, 1ee, 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). 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

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 13

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 13

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 right bundle branch block 31 occasional (7.5%) HP:0011712
3 left anterior fascicular block 31 occasional (7.5%) HP:0011711
4 hypertrophic cardiomyopathy 31 HP:0001639
5 dyspnea 31 HP:0002094
6 chest pain 31 HP:0100749
7 syncope 31 HP:0001279
8 biventricular hypertrophy 31 HP:0200128
9 ventricular fibrillation 31 HP:0001663
10 st segment depression 31 HP:0012250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

Publications for Cardiomyopathy, Familial Hypertrophic, 13

Articles related to Cardiomyopathy, Familial Hypertrophic, 13:

# Title Authors PMID Year
1
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. 6 57
22815480 2012
2
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 57 6
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. 6 57
16302972 2005
4
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 57 6
11385718 2001
5
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 57
12974739 2003
6
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 57
12860912 2003
7
Early diastolic mitral annular velocity at the interventricular septal annulus correctly reflects left ventricular longitudinal myocardial relaxation. 61
21908514 2011
8
Prevalence and persistence of depression in patients with implantable cardioverter defibrillator: a 2-year longitudinal study. 61
20946285 2010
9
Sudden unexpected death in persons less than 40 years of age. 61
1951130 1991
10
Abnormal left ventricular-left atrial posterior wall contour: a new two-dimensional echocardiographic sign in constrictive pericarditis. 61
2741779 1989

Variations for Cardiomyopathy, Familial Hypertrophic, 13

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

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNC1 NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr) SNV Pathogenic 12444 rs267607126 3:52485826-52485826 3:52451810-52451810
2 TNNC1 NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) SNV Pathogenic 39832 rs397514616 3:52486233-52486233 3:52452217-52452217
3 TNNC1 NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) SNV Pathogenic 12442 rs267607123 3:52486238-52486238 3:52452222-52452222
4 TNNC1 NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) SNV Pathogenic 12443 rs267607125 3:52488009-52488009 3:52453993-52453993
5 TNNC1 NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) SNV Pathogenic 12445 rs267607124 3:52485426-52485426 3:52451410-52451410
6 TNNC1 NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) SNV Likely pathogenic 181567 rs730881061 3:52485431-52485431 3:52451415-52451415
7 TNNC1 NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) SNV Likely pathogenic 12443 rs267607125 3:52488009-52488009 3:52453993-52453993
8 TNNC1 NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) SNV Uncertain significance 265805 rs1040079072 3:52486140-52486140 3:52452124-52452124
9 TNNC1 NM_003280.3(TNNC1):c.454+6C>T SNV Uncertain significance 508670 rs750021293 3:52485401-52485401 3:52451385-52451385
10 TNNC1 NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn) SNV Uncertain significance 847856 3:52485435-52485435 3:52451419-52451419
11 TNNC1 NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu) SNV Uncertain significance 848729 3:52486169-52486169 3:52452153-52452153
12 TNNC1 NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) SNV Uncertain significance 860219 3:52485505-52485505 3:52451489-52451489
13 TNNC1 NM_003280.3(TNNC1):c.444C>T (p.Ile148=) SNV Uncertain significance 700167 rs149428762 3:52485417-52485417 3:52451401-52451401
14 TNNC1 NM_003280.3(TNNC1):c.213G>C (p.Thr71=) SNV Uncertain significance 702219 rs140287760 3:52485864-52485864 3:52451848-52451848
15 TNNC1 NM_003280.3(TNNC1):c.189G>C (p.Glu63Asp) SNV Uncertain significance 939652 3:52486135-52486135 3:52452119-52452119
16 TNNC1 NM_003280.3(TNNC1):c.304C>A (p.Arg102Ser) SNV Uncertain significance 946356 3:52485773-52485773 3:52451757-52451757
17 TNNC1 NM_003280.3(TNNC1):c.455-6C>G SNV Uncertain significance 948109 3:52485328-52485328 3:52451312-52451312
18 TNNC1 NM_003280.3(TNNC1):c.440G>A (p.Arg147His) SNV Uncertain significance 949818 3:52485421-52485421 3:52451405-52451405
19 TNNC1 NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) SNV Uncertain significance 960916 3:52485443-52485443 3:52451427-52451427
20 TNNC1 NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu) SNV Uncertain significance 496210 rs143020831 3:52485772-52485772 3:52451756-52451756
21 TNNC1 NM_003280.3(TNNC1):c.202+6C>T SNV Uncertain significance 968552 3:52486116-52486116 3:52452100-52452100
22 TNNC1 NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn) SNV Uncertain significance 181571 rs730881064 3:52486251-52486251 3:52452235-52452235
23 TNNC1 NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) SNV Uncertain significance 181565 rs370103102 3:52485773-52485773 3:52451757-52451757
24 TNNC1 NM_003280.3(TNNC1):c.68C>A (p.Ala23Asp) SNV Uncertain significance 565519 rs1559616263 3:52486256-52486256 3:52452240-52452240
25 TNNC1 NM_003280.3(TNNC1):c.140T>G (p.Met47Arg) SNV Uncertain significance 488170 rs1553651744 3:52486184-52486184 3:52452168-52452168
26 TNNC1 NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn) SNV Uncertain significance 567523 rs369639550 3:52485524-52485524 3:52451508-52451508
27 TNNC1 NM_003280.3(TNNC1):c.391_393GAC[1] (p.Asp132del) Microsatellite Uncertain significance 569293 rs1559615735 3:52485465-52485467 3:52451449-52451451
28 TNNC1 NM_003280.3(TNNC1):c.318-6C>G SNV Uncertain significance 572564 rs1559615815 3:52485549-52485549 3:52451533-52451533
29 TNNC1 NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys) SNV Uncertain significance 579420 rs1559615797 3:52485533-52485533 3:52451517-52451517
30 TNNC1 NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) SNV Uncertain significance 12442 rs267607123 3:52486238-52486238 3:52452222-52452222
31 TNNC1 NM_003280.3(TNNC1):c.203-9C>G SNV Uncertain significance 580342 rs754800561 3:52485883-52485883 3:52451867-52451867
32 TNNC1 NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) SNV Uncertain significance 44681 rs397516847 3:52485459-52485459 3:52451443-52451443
33 TNNC1 NM_003280.3(TNNC1):c.355A>G (p.Ile119Val) SNV Uncertain significance 580935 rs1559615765 3:52485506-52485506 3:52451490-52451490
34 TNNC1 NM_003280.3(TNNC1):c.397A>G (p.Ile133Val) SNV Uncertain significance 640123 rs922957538 3:52485464-52485464 3:52451448-52451448
35 TNNC1 NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu) SNV Uncertain significance 643139 rs764835690 3:52485442-52485442 3:52451426-52451426
36 TNNC1 NM_003280.3(TNNC1):c.469A>C (p.Met157Leu) SNV Uncertain significance 181569 rs730880230 3:52485308-52485308 3:52451292-52451292
37 TNNC1 NM_003280.3(TNNC1):c.271G>A (p.Gly91Arg) SNV Uncertain significance 647657 rs1578264052 3:52485806-52485806 3:52451790-52451790
38 TNNC1 NM_003280.3(TNNC1):c.55+5G>A SNV Uncertain significance 649043 rs1201786846 3:52486494-52486494 3:52452478-52452478
39 TNNC1 NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp) SNV Uncertain significance 221030 rs864622721 3:52486135-52486135 3:52452119-52452119
40 TNNC1 NM_003280.3(TNNC1):c.210C>T (p.Gly70=) SNV Uncertain significance 44677 rs141505676 3:52485867-52485867 3:52451851-52451851
41 TNNC1 NM_003280.3(TNNC1):c.*127C>T SNV Uncertain significance 346128 rs41292360 3:52485164-52485164 3:52451148-52451148
42 TNNC1 NM_003280.3(TNNC1):c.4G>A (p.Asp2Asn) SNV Uncertain significance 346133 rs886058707 3:52488028-52488028 3:52454012-52454012
43 TNNC1 NM_003280.3(TNNC1):c.81C>T (p.Phe27=) SNV Uncertain significance 346131 rs756483143 3:52486243-52486243 3:52452227-52452227
44 TNNC1 NM_003280.3(TNNC1):c.55+9C>A SNV Uncertain significance 346132 rs750647348 3:52486490-52486490 3:52452474-52452474
45 TNNC1 NM_003280.3(TNNC1):c.*75G>A SNV Uncertain significance 346130 rs886058706 3:52485216-52485216 3:52451200-52451200
46 TNNC1 NM_003280.3(TNNC1):c.387G>C (p.Thr129=) SNV Uncertain significance 44679 rs397516845 3:52485474-52485474 3:52451458-52451458
47 TNNC1 NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) SNV Uncertain significance 44682 rs397516848 3:52485419-52485419 3:52451403-52451403
48 TNNC1 NM_003280.3(TNNC1):c.175dup (p.Glu59fs) Duplication Uncertain significance 409872 rs1060502609 3:52486148-52486149 3:52452132-52452133
49 TNNC1 NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn) SNV Uncertain significance 409874 rs142759728 3:52485428-52485428 3:52451412-52451412
50 TNNC1 NM_003280.3(TNNC1):c.452A>T (p.Asp151Val) SNV Uncertain significance 409875 rs1060502611 3:52485409-52485409 3:52451393-52451393

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

73
# 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

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 contractile fiber GO:0043292 8.62 TNNC1 SMTNL1

Sources for Cardiomyopathy, Familial Hypertrophic, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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