MCID: CRD061
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 13

Categories: Genetic diseases, Cardiovascular 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 73
Cmh13 57 12 75
Familial Hypertrophic Cardiomyopathy 13 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 13 40
Cardiomyopathy, Familial Hypertrophic 13 75
Cardiomyopathy Familial Hypertrophic 13 12
Cardiomyopathy, Hypertrophic, 13 57
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:

OMIM 57 613243
Disease Ontology 12 DOID:0110319
MedGen 42 C2750472
MeSH 44 D024741
UMLS 73 C2750472

Summaries for Cardiomyopathy, Familial Hypertrophic, 13

UniProtKB/Swiss-Prot : 75 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 hypertrophic cardiomyopathy and ventricular fibrillation

Disease Ontology : 12 A 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
chest pain
atrial fibrillation (in some patients)
dyspnea on exertion
syncope, with or without exertion
left anterior hemiblock (in some patients)
more

Clinical features from OMIM:

613243

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 13:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 ventricular fibrillation 32 HP:0001663
3 atrial fibrillation 32 occasional (7.5%) HP:0005110
4 left anterior fascicular block 32 occasional (7.5%) HP:0011711
5 right bundle branch block 32 occasional (7.5%) HP:0011712
6 chest pain 32 HP:0100749

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

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 13

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 13

Variations for Cardiomyopathy, Familial Hypertrophic, 13

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

75
# 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 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNC1 NM_003280.2(TNNC1): c.251G> A (p.Cys84Tyr) single nucleotide variant Pathogenic rs267607126 GRCh37 Chromosome 3, 52485826: 52485826
2 TNNC1 NM_003280.2(TNNC1): c.251G> A (p.Cys84Tyr) single nucleotide variant Pathogenic rs267607126 GRCh38 Chromosome 3, 52451810: 52451810
3 TNNC1 NM_003280.2(TNNC1): c.91G> T (p.Ala31Ser) single nucleotide variant Pathogenic rs397514616 GRCh37 Chromosome 3, 52486233: 52486233
4 TNNC1 NM_003280.2(TNNC1): c.91G> T (p.Ala31Ser) single nucleotide variant Pathogenic rs397514616 GRCh38 Chromosome 3, 52452217: 52452217
5 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh37 Chromosome 3, 52485879: 52485879
6 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh38 Chromosome 3, 52451863: 52451863
7 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh37 Chromosome 3, 52486123: 52486123
8 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh38 Chromosome 3, 52452107: 52452107
9 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh37 Chromosome 3, 52486216: 52486216
10 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh38 Chromosome 3, 52452200: 52452200
11 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs730881061 GRCh37 Chromosome 3, 52485431: 52485431
12 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs730881061 GRCh38 Chromosome 3, 52451415: 52451415
13 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh38 Chromosome 3, 52451799: 52451799
14 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh37 Chromosome 3, 52485815: 52485815
15 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh37 Chromosome 3, 52486169: 52486169
16 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh38 Chromosome 3, 52452153: 52452153
17 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh37 Chromosome 3, 52486528: 52486528
18 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh38 Chromosome 3, 52452512: 52452512
19 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh37 Chromosome 3, 52485525: 52485525
20 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh38 Chromosome 3, 52451509: 52451509
21 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh37 Chromosome 3, 52486135: 52486135
22 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh38 Chromosome 3, 52452119: 52452119
23 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh37 Chromosome 3, 52485321: 52485321
24 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh38 Chromosome 3, 52451305: 52451305
25 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh38 Chromosome 3, 52452236: 52452236
26 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh37 Chromosome 3, 52486252: 52486252
27 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh38 Chromosome 3, 52452474: 52452474
28 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh37 Chromosome 3, 52486490: 52486490
29 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh37 Chromosome 3, 52486234: 52486234
30 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh38 Chromosome 3, 52452218: 52452218
31 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh38 Chromosome 3, 52451384: 52451384
32 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh37 Chromosome 3, 52485400: 52485400
33 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh38 Chromosome 3, 52451412: 52451412
34 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh37 Chromosome 3, 52485428: 52485428
35 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh37 Chromosome 3, 52485864: 52485864
36 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh38 Chromosome 3, 52451848: 52451848
37 TNNC1 NM_003280.2(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 GRCh37 Chromosome 3, 52487999: 52487999
38 TNNC1 NM_003280.2(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 GRCh38 Chromosome 3, 52453983: 52453983
39 TNNC1 NM_003280.2(TNNC1): c.207C> G (p.Ser69Arg) single nucleotide variant Uncertain significance rs202173903 GRCh37 Chromosome 3, 52485870: 52485870
40 TNNC1 NM_003280.2(TNNC1): c.207C> G (p.Ser69Arg) single nucleotide variant Uncertain significance rs202173903 GRCh38 Chromosome 3, 52451854: 52451854
41 TNNC1 NM_003280.2(TNNC1): c.175dupG (p.Glu59Glyfs) duplication Uncertain significance rs1060502609 GRCh37 Chromosome 3, 52486149: 52486149
42 TNNC1 NM_003280.2(TNNC1): c.175dupG (p.Glu59Glyfs) duplication Uncertain significance rs1060502609 GRCh38 Chromosome 3, 52452133: 52452133
43 TNNC1 NM_003280.2(TNNC1): c.452A> T (p.Asp151Val) single nucleotide variant Uncertain significance rs1060502611 GRCh37 Chromosome 3, 52485409: 52485409
44 TNNC1 NM_003280.2(TNNC1): c.452A> T (p.Asp151Val) single nucleotide variant Uncertain significance rs1060502611 GRCh38 Chromosome 3, 52451393: 52451393
45 TNNC1 NM_003280.2(TNNC1): c.348G> T (p.Glu116Asp) single nucleotide variant Uncertain significance rs1060502610 GRCh37 Chromosome 3, 52485513: 52485513
46 TNNC1 NM_003280.2(TNNC1): c.348G> T (p.Glu116Asp) single nucleotide variant Uncertain significance rs1060502610 GRCh38 Chromosome 3, 52451497: 52451497
47 TNNC1 NM_003280.2(TNNC1): c.387G> A (p.Thr129=) single nucleotide variant Likely benign rs397516845 GRCh37 Chromosome 3, 52485474: 52485474
48 TNNC1 NM_003280.2(TNNC1): c.387G> A (p.Thr129=) single nucleotide variant Likely benign rs397516845 GRCh38 Chromosome 3, 52451458: 52451458
49 TNNC1 NM_003280.2(TNNC1): c.473A> C (p.Lys158Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 52485304: 52485304
50 TNNC1 NM_003280.2(TNNC1): c.473A> C (p.Lys158Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 52451288: 52451288

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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