CMH11
MCID: CRD056
MIFTS: 25

Cardiomyopathy, Familial Hypertrophic, 11 (CMH11)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 11

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 11:

Name: Cardiomyopathy, Familial Hypertrophic, 11 58 13 74
Cmh11 58 12 76
Familial Hypertrophic Cardiomyopathy 11 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 11 41
Cardiomyopathy, Familial Hypertrophic 11 76
Cardiomyopathy Familial Hypertrophic 11 12
Cardiomyopathy, Hypertrophic, 11 58
Hypertrophic Cardiomyopathy 11 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, familial hypertrophic, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110317
OMIM 58 612098
MeSH 45 D024741
MedGen 43 C2677506
UMLS 74 C2677506

Summaries for Cardiomyopathy, Familial Hypertrophic, 11

UniProtKB/Swiss-Prot : 76 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). The drugs Montelukast and Hormone Antagonists have been mentioned in the context of this disorder. 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.

Description from OMIM: 612098

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 11

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 11:

33
# Description HPO Frequency HPO Source Accession
1 arrhythmia 33 occasional (7.5%) HP:0011675
2 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy
septal bulge of left ventricular outflow tract
wolff-parkinson-white arrhythmia (rare)

Clinical features from OMIM:

612098

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 11

Drugs for Cardiomyopathy, Familial Hypertrophic, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Montelukast Approved Not Applicable 158966-92-8 5281040
2 Hormone Antagonists Not Applicable
3 Anti-Asthmatic Agents Not Applicable
4 Respiratory System Agents Not Applicable
5 Leukotriene Antagonists Not Applicable
6 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
7 Hormones Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial of Montelukast for Maintenance Therapy of Eosinophilic Esophagitis in Children Terminated NCT01458418 Not Applicable Montelukast;5 mg Montelukast

Search 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 30 ACTC1

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 11

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

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 11

Articles related to Cardiomyopathy, Familial Hypertrophic, 11:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
5
Mutations in sarcomere protein genes in left ventricular noncompaction. ( 18506004 )
2008
6
Shared genetic causes of cardiac hypertrophy in children and adults. ( 18403758 )
2008
7
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. ( 17611253 )
2007
8
Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )
2005
9
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ( 10966831 )
2000
10
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. ( 10330430 )
1999

Variations for Cardiomyopathy, Familial Hypertrophic, 11

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

76
# 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

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

6 (show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh37 Chromosome 15, 35083364: 35083364
2 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh38 Chromosome 15, 34791163: 34791163
3 ACTC1 NM_005159.4(ACTC1): c.889G> T (p.Ala297Ser) single nucleotide variant Pathogenic rs121912675 GRCh37 Chromosome 15, 35083416: 35083416
4 ACTC1 NM_005159.4(ACTC1): c.889G> T (p.Ala297Ser) single nucleotide variant Pathogenic rs121912675 GRCh38 Chromosome 15, 34791215: 34791215
5 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh37 Chromosome 15, 35085632: 35085632
6 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh38 Chromosome 15, 34793431: 34793431
7 ACTC1 NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs267606629 GRCh37 Chromosome 15, 35082750: 35082750
8 ACTC1 NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs267606629 GRCh38 Chromosome 15, 34790549: 34790549
9 ACTC1 NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala) single nucleotide variant Pathogenic rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
10 ACTC1 NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala) single nucleotide variant Pathogenic rs267606628 GRCh38 Chromosome 15, 34792528: 34792528
11 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
12 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
13 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh37 Chromosome 15, 35085681: 35085681
14 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh38 Chromosome 15, 34793480: 34793480
15 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign/Likely benign rs148695567 GRCh37 Chromosome 15, 35085437: 35085437
16 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign/Likely benign rs148695567 GRCh38 Chromosome 15, 34793236: 34793236
17 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh37 Chromosome 15, 35084760: 35084760
18 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh38 Chromosome 15, 34792559: 34792559
19 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh37 Chromosome 15, 35084712: 35084712
20 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh38 Chromosome 15, 34792511: 34792511
21 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Conflicting interpretations of pathogenicity rs138347995 GRCh37 Chromosome 15, 35083402: 35083402
22 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Conflicting interpretations of pathogenicity rs138347995 GRCh38 Chromosome 15, 34791201: 34791201
23 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh37 Chromosome 15, 35083378: 35083378
24 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh38 Chromosome 15, 34791177: 34791177
25 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh37 Chromosome 15, 35086982: 35086982
26 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh38 Chromosome 15, 34794781: 34794781
27 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
28 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
29 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
30 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
31 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
32 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
33 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh38 Chromosome 15, 34792461: 34792461
34 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh37 Chromosome 15, 35084662: 35084662
35 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
36 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
37 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
38 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
39 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
40 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
41 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
42 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
43 ACTC1 NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser) single nucleotide variant Likely pathogenic rs767734253 GRCh37 Chromosome 15, 35085619: 35085619
44 ACTC1 NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser) single nucleotide variant Likely pathogenic rs767734253 GRCh38 Chromosome 15, 34793418: 34793418
45 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
46 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
47 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
48 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
49 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
50 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357

Expression for Cardiomyopathy, Familial Hypertrophic, 11

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Pathways for Cardiomyopathy, Familial Hypertrophic, 11

GO Terms for Cardiomyopathy, Familial Hypertrophic, 11

Sources for Cardiomyopathy, Familial Hypertrophic, 11

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