MCID: CRD206
MIFTS: 23

Cardiomyopathy, Hypertrophic, 11 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 11

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Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 11:

Name: Cardiomyopathy, Hypertrophic, 11 49
Cardiomyopathy, Familial Hypertrophic, 11 11 65
 
Cardiomyopathy, Familial Hypertrophic 11 67 24
Cmh11 67

Characteristics:

HPO:

61
cardiomyopathy, hypertrophic, 11:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 612098
MedGen34 C2677506
MeSH36 D024741
UMLS65 C2677506

Summaries for Cardiomyopathy, Hypertrophic, 11

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UniProtKB/Swiss-Prot:67 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, Hypertrophic, 11, also known as cardiomyopathy, familial hypertrophic, 11, is related to cardiomyopathy, familial hypertrophic, and has symptoms including arrhythmiaand hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Hypertrophic, 11 is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart and breast.

Description from OMIM:49 612098

Related Diseases for Cardiomyopathy, Hypertrophic, 11

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Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 13 Cardiomyopathy, Hypertrophic, 8
Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy, Hypertrophic, 18
Cardiomyopathy, Hypertrophic 6 Cardiomyopathy, Hypertrophic, 15
Cardiomyopathy, Hypertrophic, 12 Cardiomyopathy, Hypertrophic, 4
Cardiomyopathy, Hypertrophic, 10 Cardiomyopathy, Hypertrophic, 14
cardiomyopathy, hypertrophic, 11 Cardiomyopathy, Hypertrophic, 3
Cardiomyopathy, Hypertrophic, 25 Cardiomyopathy, Hypertrophic, 19
Cardiomyopathy, Hypertrophic, 7 Cardiomyopathy, Hypertrophic, 17
Calr3-Related Familial Hypertrophic Cardiomyopathy Jph2-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Cav3-Related Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Mybpc3-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Myl2-Related Familial Hypertrophic Cardiomyopathy
Myl3-Related Familial Hypertrophic Cardiomyopathy Myoz2-Related Familial Hypertrophic Cardiomyopathy
Nexn-Related Familial Hypertrophic Cardiomyopathy Pln-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Tnnc1-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Vcl-Related Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease

Diseases related to Cardiomyopathy, Hypertrophic, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.4

Symptoms for Cardiomyopathy, Hypertrophic, 11

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Symptoms by clinical synopsis from OMIM:

612098

Clinical features from OMIM:

612098

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 11:

id Description Frequency HPO Source Accession
1 arrhythmia rare (5%) HP:0011675
2 hypertrophic cardiomyopathy HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 11

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction CardiomyopathyCompletedNCT01481298
2New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856
3Triple Chamber Pacing in Hypertrophic Obstructive Cardiomyopathy (HOCM) Patients - TRICHAMPION STUDYRecruitingNCT01614717
4A Biomarker and MRI Study on Troponin Release After Exercise in Hypertrophic CardiomyopathyRecruitingNCT01559714
5Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in EchocardiographyRecruitingNCT02221141
6The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast CancerNot yet recruitingNCT01503697

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 11

Genetic Tests for Cardiomyopathy, Hypertrophic, 11

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Anatomical Context for Cardiomyopathy, Hypertrophic, 11

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

33
Heart, Breast

Animal Models for Cardiomyopathy, Hypertrophic, 11 or affiliated genes

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Publications for Cardiomyopathy, Hypertrophic, 11

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Variations for Cardiomyopathy, Hypertrophic, 11

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

67
id Symbol AA change Variation ID SNP ID
1ACTC1p.Glu101LysVAR_012857
2ACTC1p.Pro166AlaVAR_012858
3ACTC1p.Ala297SerVAR_012859
4ACTC1p.Ala333ProVAR_012861
5ACTC1p.His90TyrVAR_045924
6ACTC1p.Arg97CysVAR_045925
7ACTC1p.Tyr168CysVAR_046503
8ACTC1p.Met307LeuVAR_046504

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 11:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.889G> T (p.Ala297Ser)single nucleotide variantPathogenicrs121912675GRCh37Chr 15, 35083416: 35083416
2NM_005159.4(ACTC1): c.268C> T (p.His90Tyr)single nucleotide variantPathogenicrs121912676GRCh37Chr 15, 35085632: 35085632
3NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro)single nucleotide variantPathogenicrs267606629GRCh37Chr 15, 35082750: 35082750
4NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala)single nucleotide variantPathogenicrs267606628GRCh37Chr 15, 35084729: 35084729
5NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantLikely pathogenic, Pathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
6NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser)single nucleotide variantLikely pathogenicrs767734253GRCh37Chr 15, 35085619: 35085619

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 11

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

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 11

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GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 11

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Sources for Cardiomyopathy, Hypertrophic, 11

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet