MCID: CRD056
MIFTS: 22

Cardiomyopathy, Familial Hypertrophic, 11

Categories: Genetic diseases, Cardiovascular 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 73
Cmh11 57 12 75
Familial Hypertrophic Cardiomyopathy 11 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 11 40
Cardiomyopathy, Familial Hypertrophic 11 75
Cardiomyopathy Familial Hypertrophic 11 12
Cardiomyopathy, Hypertrophic, 11 57
Hypertrophic Cardiomyopathy 11 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cardiomyopathy, familial hypertrophic, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612098
Disease Ontology 12 DOID:0110317
MedGen 42 C2677506
MeSH 44 D024741
UMLS 73 C2677506

Summaries for Cardiomyopathy, Familial Hypertrophic, 11

UniProtKB/Swiss-Prot : 75 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 Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are hypertrophic cardiomyopathy and arrhythmia

Disease Ontology : 12 A 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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

612098

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 11:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 arrhythmia 32 occasional (7.5%) HP:0011675

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 Respiratory System Agents Not Applicable
3 Hormone Antagonists Not Applicable
4 Hormones Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
6 Anti-Asthmatic Agents Not Applicable
7 Leukotriene Antagonists 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 29 ACTC1

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 11

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 11

Variations for Cardiomyopathy, Familial Hypertrophic, 11

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

75
# 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 96)
# 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.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs267606629 GRCh37 Chromosome 15, 35082750: 35082750
6 ACTC1 NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs267606629 GRCh38 Chromosome 15, 34790549: 34790549
7 ACTC1 NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala) single nucleotide variant Pathogenic rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
8 ACTC1 NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala) single nucleotide variant Pathogenic rs267606628 GRCh38 Chromosome 15, 34792528: 34792528
9 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
10 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
11 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
12 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
13 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
14 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
15 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
16 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
17 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
18 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
19 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
20 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
21 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
22 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
23 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
24 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
25 ACTC1 NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser) single nucleotide variant Likely pathogenic rs767734253 GRCh37 Chromosome 15, 35085619: 35085619
26 ACTC1 NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser) single nucleotide variant Likely pathogenic rs767734253 GRCh38 Chromosome 15, 34793418: 34793418
27 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
28 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
29 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
30 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
31 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
32 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357
33 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh38 Chromosome 15, 34794680: 34794680
34 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh37 Chromosome 15, 35086881: 35086881
35 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh38 Chromosome 15, 34790493: 34790493
36 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh37 Chromosome 15, 35082694: 35082694
37 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh38 Chromosome 15, 34792487: 34792487
38 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh37 Chromosome 15, 35084688: 35084688
39 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh37 Chromosome 15, 35085501: 35085501
40 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh38 Chromosome 15, 34793300: 34793300
41 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh37 Chromosome 15, 35084315: 35084315
42 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh38 Chromosome 15, 34792114: 34792114
43 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh37 Chromosome 15, 35085591: 35085591
44 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh38 Chromosome 15, 34793390: 34793390
45 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh38 Chromosome 15, 34792206: 34792206
46 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh37 Chromosome 15, 35084407: 35084407
47 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh38 Chromosome 15, 34792528: 34792528
48 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
49 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh38 Chromosome 15, 34794743: 34794743
50 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh37 Chromosome 15, 35086944: 35086944

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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