CMH11
MCID: CRD056
MIFTS: 27

Cardiomyopathy, Familial Hypertrophic, 11 (CMH11)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 11

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 11:

Name: Cardiomyopathy, Familial Hypertrophic, 11 57 13 70
Cmh11 57 12 72
Familial Hypertrophic Cardiomyopathy 11 29 6
Cardiomyopathy, Hypertrophic, 11 57 29
Cardiomyopathy, Hypertrophic, Familial, Type 11 39
Cardiomyopathy, Familial Hypertrophic 11 72
Cardiomyopathy Familial Hypertrophic 11 12
Hypertrophic Cardiomyopathy 11 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
early onset in some patients
highly penetrant, but low morbidity


HPO:

31
cardiomyopathy, familial hypertrophic, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110317
OMIM® 57 612098
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C2677506
UMLS 70 C2677506

Summaries for Cardiomyopathy, Familial Hypertrophic, 11

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 11: 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, 11, is also known as cmh11. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 11 is ACTC1 (Actin Alpha Cardiac Muscle 1). Affiliated tissues include heart, and related phenotypes are arrhythmia and hypertrophic cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14.

More information from OMIM: 612098 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 11

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 11:

31
# Description HPO Frequency HPO Source Accession
1 arrhythmia 31 occasional (7.5%) HP:0011675
2 hypertrophic cardiomyopathy 31 HP:0001639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
hypertrophic cardiomyopathy
septal bulge of left ventricular outflow tract
wolff-parkinson-white arrhythmia (rare)

Clinical features from OMIM®:

612098 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 11

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 11

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 11

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 11:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 11 29 ACTC1
2 Cardiomyopathy, Hypertrophic, 11 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 11

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 11:

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 11

Articles related to Cardiomyopathy, Familial Hypertrophic, 11:

(show all 26)
# Title Authors PMID Year
1
Shared genetic causes of cardiac hypertrophy in children and adults. 6 57
18403758 2008
2
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 57 6
17611253 2007
3
Gene mutations in apical hypertrophic cardiomyopathy. 6 57
16267253 2005
4
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 57 6
10966831 2000
5
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. 6 57
10330430 1999
6
A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. 6
31434612 2019
7
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. 6
31430208 2019
8
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 6
30600190 2019
9
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
10
Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P. 6
24793351 2014
11
Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 6
24736382 2014
12
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
13
Subdomain location of mutations in cardiac actin correlate with type of functional change. 6
22590617 2012
14
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 6
21622575 2011
15
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 6
19799913 2010
16
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
17
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 6
16611632 2006
18
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 6
9563954 1998
19
Verification of Heart Disease: Implications for a New Heart Transplantation Allocation System. 61
29191297 2017
20
Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death. 61
28606196 2017
21
Effect of cibenzoline, a class ia antiarrhythmic agent, on left ventricular diastolic function in hypertrophic cardiomyopathy. 61
11855665 2001
22
Assessment of abnormal left atrial relaxation by transesophageal pulsed Doppler echocardiography of pulmonary venous flow velocity. 61
9789697 1998
23
Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. 61
7594081 1995
24
Effects of a meal on hemodynamic function at rest and during exercise in patients with hypertrophic cardiomyopathy. 61
1856410 1991
25
Left ventricular filling in hypertrophic cardiomyopathy: a pulsed Doppler echocardiographic study. 61
3711482 1986
26
Calcification of the mitral annulus: etiology, clinical associations, complications and therapy. 61
156499 1979

Variations for Cardiomyopathy, Familial Hypertrophic, 11

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 11:

6 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) SNV Pathogenic 18325 rs121912675 GRCh37: 15:35083416-35083416
GRCh38: 15:34791215-34791215
2 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) SNV Pathogenic 18326 rs121912676 GRCh37: 15:35085632-35085632
GRCh38: 15:34793431-34793431
3 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
4 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) SNV Pathogenic 18330 rs267606628 GRCh37: 15:35084729-35084729
GRCh38: 15:34792528-34792528
5 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
6 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
7 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) SNV Pathogenic 177917 rs727504399 GRCh37: 15:35086934-35086934
GRCh38: 15:34794733-34794733
8 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) SNV Pathogenic 626827 rs1566967399 GRCh37: 15:35084359-35084359
GRCh38: 15:34792158-34792158
9 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Likely pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
10 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) SNV Likely pathogenic 217487 rs767734253 GRCh37: 15:35085619-35085619
GRCh38: 15:34793418-34793418
11 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.941G>A (p.Arg314His) SNV Likely pathogenic 18323 rs121912673 GRCh37: 15:35083364-35083364
GRCh38: 15:34791163-34791163
12 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) SNV Conflicting interpretations of pathogenicity 50936 rs397517057 GRCh37: 15:35086982-35086982
GRCh38: 15:34794781-34794781
13 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) SNV Uncertain significance 180757 rs730880392 GRCh37: 15:35084696-35084696
GRCh38: 15:34792495-34792495
14 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) SNV Uncertain significance 177786 rs727504323 GRCh37: 15:35084306-35084306
GRCh38: 15:34792105-34792105
15 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) SNV Uncertain significance 538805 rs1555418912 GRCh37: 15:35085722-35085722
GRCh38: 15:34793521-34793521
16 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) SNV Uncertain significance 538806 rs1555418891 GRCh37: 15:35085607-35085607
GRCh38: 15:34793406-34793406
17 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) SNV Uncertain significance 538807 rs768526036 GRCh37: 15:35086998-35086998
GRCh38: 15:34794797-34794797
18 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.94G>A (p.Val32Ile) SNV Uncertain significance 538808 rs1555419003 GRCh37: 15:35086916-35086916
GRCh38: 15:34794715-34794715
19 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) SNV Uncertain significance 217889 rs863225303 GRCh37: 15:35083411-35083411
GRCh38: 15:34791210-34791210
20 ACTC1 NC_000015.10:g.(?_34788628)_(34794818_?)dup Duplication Uncertain significance 833183 GRCh37: 15:35080829-35087019
GRCh38:
21 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) SNV Uncertain significance 180773 rs730880406 GRCh37: 15:35082749-35082749
GRCh38: 15:34790548-34790548
22 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) SNV Uncertain significance 835562 GRCh37: 15:35083492-35083492
GRCh38: 15:34791291-34791291
23 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln) SNV Uncertain significance 838163 GRCh37: 15:35086909-35086909
GRCh38: 15:34794708-34794708
24 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg) SNV Uncertain significance 565936 rs1566967406 GRCh37: 15:35084376-35084376
GRCh38: 15:34792175-34792175
25 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.524A>C (p.His175Pro) SNV Uncertain significance 566055 rs1566967487 GRCh37: 15:35084701-35084701
GRCh38: 15:34792500-34792500
26 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) SNV Uncertain significance 570215 rs1566967697 GRCh37: 15:35085503-35085503
GRCh38: 15:34793302-34793302
27 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) SNV Uncertain significance 18326 rs121912676 GRCh37: 15:35085632-35085632
GRCh38: 15:34793431-34793431
28 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.309C>A (p.His103Gln) SNV Uncertain significance 377435 rs769303249 GRCh37: 15:35085591-35085591
GRCh38: 15:34793390-34793390
29 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala) SNV Uncertain significance 642074 rs1595761987 GRCh37: 15:35086907-35086907
GRCh38: 15:34794706-34794706
30 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe) SNV Uncertain significance 642187 rs1595760777 GRCh37: 15:35084392-35084392
GRCh38: 15:34792191-34792191
31 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs) Indel Uncertain significance 644014 rs1595760229 GRCh37: 15:35083370-35083371
GRCh38: 15:34791169-34791170
32 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.623G>A (p.Arg208His) SNV Uncertain significance 520473 rs142839840 GRCh37: 15:35084476-35084476
GRCh38: 15:34792275-34792275
33 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) SNV Uncertain significance 652297 rs1595761325 GRCh37: 15:35085511-35085511
GRCh38: 15:34793310-34793310
34 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) SNV Uncertain significance 45191 rs397517073 GRCh37: 15:35083455-35083455
GRCh38: 15:34791254-34791254
35 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) SNV Uncertain significance 652722 rs1595760799 GRCh37: 15:35084412-35084412
GRCh38: 15:34792211-34792211
36 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup) Duplication Uncertain significance 652872 rs1595760207 GRCh37: 15:35083345-35083346
GRCh38: 15:34791144-34791145
37 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) SNV Uncertain significance 653219 rs1595761344 GRCh37: 15:35085526-35085526
GRCh38: 15:34793325-34793325
38 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu) SNV Uncertain significance 656273 rs1595759946 GRCh37: 15:35082666-35082666
GRCh38: 15:34790465-34790465
39 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) SNV Uncertain significance 180763 rs730880398 GRCh37: 15:35084344-35084344
GRCh38: 15:34792143-34792143
40 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) SNV Uncertain significance 658563 rs1595760259 GRCh37: 15:35083413-35083413
GRCh38: 15:34791212-34791212
41 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.375G>C (p.Met125Ile) SNV Uncertain significance 659534 rs1595761338 GRCh37: 15:35085525-35085525
GRCh38: 15:34793324-34793324
42 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) SNV Uncertain significance 180771 rs730880404 GRCh37: 15:35083337-35083337
GRCh38: 15:34791136-34791136
43 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.10G>C (p.Asp4His) SNV Uncertain significance 180775 rs730880408 GRCh37: 15:35087000-35087000
GRCh38: 15:34794799-34794799
44 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) SNV Uncertain significance 180769 rs730880402 GRCh37: 15:35083419-35083419
GRCh38: 15:34791218-34791218
45 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) SNV Uncertain significance 50937 rs397517072 GRCh37: 15:35086927-35086927
GRCh38: 15:34794726-34794726
46 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.455-4del Deletion Uncertain significance 665229 rs1178667520 GRCh37: 15:35084774-35084774
GRCh38: 15:34792573-34792573
47 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.635G>A (p.Arg212His) SNV Uncertain significance 45186 rs397517067 GRCh37: 15:35084464-35084464
GRCh38: 15:34792263-34792263
48 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.332del (p.Pro111fs) Deletion Uncertain significance 855035 GRCh37: 15:35085568-35085568
GRCh38: 15:34793367-34793367
49 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp) SNV Uncertain significance 864416 GRCh37: 15:35083394-35083394
GRCh38: 15:34791193-34791193
50 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.302A>T (p.Glu101Val) SNV Uncertain significance 842324 GRCh37: 15:35085598-35085598
GRCh38: 15:34793397-34793397

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 11:

72
# Symbol AA change Variation ID SNP ID
1 ACTC1 p.Glu101Lys VAR_012857 rs193922680
2 ACTC1 p.Pro166Ala VAR_012858 rs267606628
3 ACTC1 p.Ala297Ser VAR_012859 rs121912675
4 ACTC1 p.Ala333Pro VAR_012861 rs267606629
5 ACTC1 p.His90Tyr VAR_045924 rs121912676
6 ACTC1 p.Arg97Cys VAR_045925 rs759495229
7 ACTC1 p.Tyr168Cys VAR_046503
8 ACTC1 p.Met307Leu VAR_046504

Expression for Cardiomyopathy, Familial Hypertrophic, 11

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 11.

Pathways for Cardiomyopathy, Familial Hypertrophic, 11

GO Terms for Cardiomyopathy, Familial Hypertrophic, 11

Sources for Cardiomyopathy, Familial Hypertrophic, 11

3 CDC
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11 DGIdb
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45 MESH via Orphanet
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61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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