MCID: CRD236
MIFTS: 18

Cardiomyopathy, Familial Hypertrophic, 25

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 25

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 25:

Name: Cardiomyopathy, Familial Hypertrophic, 25 57
Cmh25 57 12 75
Cardiomyopathy, Familial Hypertrophic 25 75
Cardiomyopathy Familial Hypertrophic 25 12
Cardiomyopathy, Hypertrophic, 25 57
Hypertrophic Cardiomyopathy 25 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 25:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607487
Disease Ontology 12 DOID:0110328
MeSH 44 D024741

Summaries for Cardiomyopathy, Familial Hypertrophic, 25

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 25: 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, 25, is also known as cmh25. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 25 is TCAP (Titin-Cap). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and left ventricular hypertrophy

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TCAP gene on chromosome 17q12.

Description from OMIM: 607487

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 25

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular hypertrophy (in some patients)
sigmoid septal shape (in some patients)
abnormal q-waves on electrocardiography (in some patients)
wolff-parkinson-white syndrome (rare)
sudden cardiac death after exercise (in some patients)
more

Clinical features from OMIM:

607487

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 25:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
3 wolff-parkinson-white syndrome 32 occasional (7.5%) HP:0001716

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 25

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 25

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 25

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 25

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 25:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 25

Variations for Cardiomyopathy, Familial Hypertrophic, 25

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 25:

75
# Symbol AA change Variation ID SNP ID
1 TCAP p.Arg70Trp VAR_026650 rs775636212
2 TCAP p.Thr137Ile VAR_029447 rs773317399
3 TCAP p.Arg153His VAR_029448 rs149585781

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 25:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh37 Chromosome 17, 37822015: 37822015
2 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh38 Chromosome 17, 39665762: 39665762
3 TCAP NM_003673.3(TCAP): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
4 TCAP NM_003673.3(TCAP): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs45495192 GRCh38 Chromosome 17, 39665391: 39665391
5 TCAP NM_003673.3(TCAP): c.269C> T (p.Pro90Leu) single nucleotide variant Uncertain significance rs727504427 GRCh37 Chromosome 17, 37822127: 37822127
6 TCAP NM_003673.3(TCAP): c.269C> T (p.Pro90Leu) single nucleotide variant Uncertain significance rs727504427 GRCh38 Chromosome 17, 39665874: 39665874
7 TCAP NM_003673.3(TCAP): c.421C> G (p.Pro141Ala) single nucleotide variant Uncertain significance rs45509691 GRCh38 Chromosome 17, 39666026: 39666026
8 TCAP NM_003673.3(TCAP): c.421C> G (p.Pro141Ala) single nucleotide variant Uncertain significance rs45509691 GRCh37 Chromosome 17, 37822279: 37822279
9 TCAP NM_003673.3(TCAP): c.410C> T (p.Thr137Ile) single nucleotide variant Pathogenic rs773317399 GRCh37 Chromosome 17, 37822268: 37822268
10 TCAP NM_003673.3(TCAP): c.410C> T (p.Thr137Ile) single nucleotide variant Pathogenic rs773317399 GRCh38 Chromosome 17, 39666015: 39666015
11 TCAP NM_003673.3(TCAP): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs775636212 GRCh37 Chromosome 17, 37822066: 37822066
12 TCAP NM_003673.3(TCAP): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs775636212 GRCh38 Chromosome 17, 39665813: 39665813
13 TCAP NM_003673.3(TCAP): c.313G> C (p.Glu105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146906267 GRCh38 Chromosome 17, 39665918: 39665918
14 TCAP NM_003673.3(TCAP): c.313G> C (p.Glu105Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146906267 GRCh37 Chromosome 17, 37822171: 37822171
15 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh38 Chromosome 17, 39665718: 39665718
16 TCAP NM_003673.3(TCAP): c.113G> T (p.Cys38Phe) single nucleotide variant Uncertain significance rs375310569 GRCh37 Chromosome 17, 37821971: 37821971
17 TCAP NM_003673.3(TCAP): c.226C> T (p.Arg76Cys) single nucleotide variant Uncertain significance rs572836774 GRCh38 Chromosome 17, 39665831: 39665831
18 TCAP NM_003673.3(TCAP): c.226C> T (p.Arg76Cys) single nucleotide variant Uncertain significance rs572836774 GRCh37 Chromosome 17, 37822084: 37822084
19 TCAP NM_003673.3(TCAP): c.334C> T (p.Gln112Ter) single nucleotide variant Uncertain significance rs794729175 GRCh37 Chromosome 17, 37822192: 37822192
20 TCAP NM_003673.3(TCAP): c.334C> T (p.Gln112Ter) single nucleotide variant Uncertain significance rs794729175 GRCh38 Chromosome 17, 39665939: 39665939
21 TCAP NM_003673.3(TCAP): c.353C> T (p.Ala118Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143233087 GRCh37 Chromosome 17, 37822211: 37822211
22 TCAP NM_003673.3(TCAP): c.353C> T (p.Ala118Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143233087 GRCh38 Chromosome 17, 39665958: 39665958
23 TCAP NM_003673.3(TCAP): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs45614536 GRCh37 Chromosome 17, 37821665: 37821665
24 TCAP NM_003673.3(TCAP): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs45614536 GRCh38 Chromosome 17, 39665412: 39665412
25 TCAP NM_003673.3(TCAP): c.192G> A (p.Ser64=) single nucleotide variant Likely benign rs771585295 GRCh37 Chromosome 17, 37822050: 37822050
26 TCAP NM_003673.3(TCAP): c.192G> A (p.Ser64=) single nucleotide variant Likely benign rs771585295 GRCh38 Chromosome 17, 39665797: 39665797
27 TCAP NM_003673.3(TCAP): c.472C> T (p.Arg158Cys) single nucleotide variant Uncertain significance rs397516863 GRCh37 Chromosome 17, 37822330: 37822330
28 TCAP NM_003673.3(TCAP): c.472C> T (p.Arg158Cys) single nucleotide variant Uncertain significance rs397516863 GRCh38 Chromosome 17, 39666077: 39666077
29 TCAP NM_003673.3(TCAP): c.97C> T (p.Arg33Trp) single nucleotide variant Uncertain significance rs145524909 GRCh37 Chromosome 17, 37821709: 37821709
30 TCAP NM_003673.3(TCAP): c.97C> T (p.Arg33Trp) single nucleotide variant Uncertain significance rs145524909 GRCh38 Chromosome 17, 39665456: 39665456
31 TCAP NM_003673.3(TCAP): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs755539784 GRCh37 Chromosome 17, 37822318: 37822318
32 TCAP NM_003673.3(TCAP): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs755539784 GRCh38 Chromosome 17, 39666065: 39666065
33 TCAP NM_003673.3(TCAP): c.447C> T (p.Pro149=) single nucleotide variant Conflicting interpretations of pathogenicity rs45614332 GRCh37 Chromosome 17, 37822305: 37822305
34 TCAP NM_003673.3(TCAP): c.447C> T (p.Pro149=) single nucleotide variant Conflicting interpretations of pathogenicity rs45614332 GRCh38 Chromosome 17, 39666052: 39666052
35 TCAP NM_003673.3(TCAP): c.313G> A (p.Glu105Lys) single nucleotide variant Uncertain significance rs146906267 GRCh37 Chromosome 17, 37822171: 37822171
36 TCAP NM_003673.3(TCAP): c.313G> A (p.Glu105Lys) single nucleotide variant Uncertain significance rs146906267 GRCh38 Chromosome 17, 39665918: 39665918
37 TCAP NM_003673.3(TCAP): c.102C> T (p.Pro34=) single nucleotide variant Likely benign rs1060504770 GRCh38 Chromosome 17, 39665461: 39665461
38 TCAP NM_003673.3(TCAP): c.102C> T (p.Pro34=) single nucleotide variant Likely benign rs1060504770 GRCh37 Chromosome 17, 37821714: 37821714
39 TCAP NM_003673.3(TCAP): c.168G> A (p.Gln56=) single nucleotide variant Likely benign rs1060504769 GRCh38 Chromosome 17, 39665773: 39665773
40 TCAP NM_003673.3(TCAP): c.168G> A (p.Gln56=) single nucleotide variant Likely benign rs1060504769 GRCh37 Chromosome 17, 37822026: 37822026
41 TCAP NM_003673.3(TCAP): c.343G> A (p.Glu115Lys) single nucleotide variant Uncertain significance rs1060502965 GRCh38 Chromosome 17, 39665948: 39665948
42 TCAP NM_003673.3(TCAP): c.343G> A (p.Glu115Lys) single nucleotide variant Uncertain significance rs1060502965 GRCh37 Chromosome 17, 37822201: 37822201
43 TCAP NM_003673.3(TCAP): c.480G> A (p.Met160Ile) single nucleotide variant Uncertain significance rs755395354 GRCh37 Chromosome 17, 37822338: 37822338
44 TCAP NM_003673.3(TCAP): c.480G> A (p.Met160Ile) single nucleotide variant Uncertain significance rs755395354 GRCh38 Chromosome 17, 39666085: 39666085
45 TCAP NM_003673.3(TCAP): c.187C> T (p.Arg63Cys) single nucleotide variant Uncertain significance rs758048577 GRCh38 Chromosome 17, 39665792: 39665792
46 TCAP NM_003673.3(TCAP): c.187C> T (p.Arg63Cys) single nucleotide variant Uncertain significance rs758048577 GRCh37 Chromosome 17, 37822045: 37822045
47 TCAP NM_003673.3(TCAP): c.389G> C (p.Arg130Pro) single nucleotide variant Uncertain significance rs147503632 GRCh38 Chromosome 17, 39665994: 39665994
48 TCAP NM_003673.3(TCAP): c.389G> C (p.Arg130Pro) single nucleotide variant Uncertain significance rs147503632 GRCh37 Chromosome 17, 37822247: 37822247
49 TCAP NM_003673.3(TCAP): c.116C> G (p.Ser39Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 37821974: 37821974
50 TCAP NM_003673.3(TCAP): c.116C> G (p.Ser39Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 39665721: 39665721

Expression for Cardiomyopathy, Familial Hypertrophic, 25

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Pathways for Cardiomyopathy, Familial Hypertrophic, 25

GO Terms for Cardiomyopathy, Familial Hypertrophic, 25

Sources for Cardiomyopathy, Familial Hypertrophic, 25

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