MCID: CRD206
MIFTS: 27

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 52
Cardiomyopathy, Familial Hypertrophic, 11 12 68
Cardiomyopathy, Familial Hypertrophic 11 70 27
 
Cmh11 11 70
Cardiomyopathy Familial Hypertrophic 11 11
Hypertrophic Cardiomyopathy 11 11

Characteristics:

HPO:

64
cardiomyopathy, hypertrophic, 11:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 612098
Disease Ontology11 DOID:0110317
MedGen37 C2677506
MeSH39 D024741

Summaries for Cardiomyopathy, Hypertrophic, 11

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UniProtKB/Swiss-Prot:70 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.

Disease Ontology:11 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14.

Description from OMIM:52 612098

Related Diseases for Cardiomyopathy, Hypertrophic, 11

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Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 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 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 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 hypertrophic10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 11

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Symptoms by clinical synopsis from OMIM:

612098

Clinical features from OMIM:

612098

Human phenotypes related to Cardiomyopathy, Hypertrophic, 11:

 64
id Description HPO Frequency HPO Source Accession
1 arrhythmia64 rare (5%) HP:0011675
2 hypertrophic cardiomyopathy64 HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 11

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast CancerUnknown statusNCT01503697
2Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction CardiomyopathyCompletedNCT01481298
3New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856
4Triple Chamber Pacing in Hypertrophic Obstructive Cardiomyopathy (HOCM) Patients - TRICHAMPION STUDYRecruitingNCT01614717
5Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic CardiomyopathyRecruitingNCT02922517
6Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in EchocardiographyRecruitingNCT02221141
7A Biomarker and MRI Study on Troponin Release After Exercise in Hypertrophic CardiomyopathyActive, not recruitingNCT01559714

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 1127

Anatomical Context for Cardiomyopathy, Hypertrophic, 11

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

36
Heart, Breast

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:

70
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
1ACTC1NM_005159.4(ACTC1): c.889G> T (p.Ala297Ser)SNVPathogenicrs121912675GRCh37Chr 15, 35083416: 35083416
2ACTC1NM_005159.4(ACTC1): c.268C> T (p.His90Tyr)SNVPathogenicrs121912676GRCh37Chr 15, 35085632: 35085632
3ACTC1NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro)SNVPathogenicrs267606629GRCh37Chr 15, 35082750: 35082750
4ACTC1NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala)SNVPathogenicrs267606628GRCh37Chr 15, 35084729: 35084729
5ACTC1NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)SNVLikely pathogenic, Pathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
6ACTC1NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser)SNVLikely 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet