MCID: CRD206
MIFTS: 23

Cardiomyopathy, Hypertrophic, 11 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 11

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Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 11:

Name: Cardiomyopathy, Hypertrophic, 11 50
Cardiomyopathy, Familial Hypertrophic 11 68 25
 
Cardiomyopathy, Familial Hypertrophic, 11 12
Cmh11 68

Characteristics:

HPO:

62
cardiomyopathy, hypertrophic, 11:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 612098
MedGen35 C2677506
MeSH37 D024741

Summaries for Cardiomyopathy, Hypertrophic, 11

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UniProtKB/Swiss-Prot:68 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 arrhythmia and 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:50 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

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.0

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
4Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic CardiomyopathyRecruitingNCT02922517
5Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in EchocardiographyRecruitingNCT02221141
6A Biomarker and MRI Study on Troponin Release After Exercise in Hypertrophic CardiomyopathyActive, not recruitingNCT01559714
7The 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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Genetic tests related to Cardiomyopathy, Hypertrophic, 11:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1125

Anatomical Context for Cardiomyopathy, Hypertrophic, 11

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1ACTC1p.Glu101LysVAR_012857rs193922680
2ACTC1p.Pro166AlaVAR_012858rs267606628
3ACTC1p.Ala297SerVAR_012859rs121912675
4ACTC1p.Ala333ProVAR_012861rs267606629
5ACTC1p.His90TyrVAR_045924rs121912676
6ACTC1p.Arg97CysVAR_045925rs759495229
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet