CMH11
MCID: CRD206
MIFTS: 26

Cardiomyopathy, Hypertrophic, 11 (CMH11) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 11

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 11:

Name: Cardiomyopathy, Hypertrophic, 11 54
Cardiomyopathy, Familial Hypertrophic, 11 13 69
Cardiomyopathy, Familial Hypertrophic 11 66 29
Cmh11 12 66
Cardiomyopathy Familial Hypertrophic 11 12
Hypertrophic Cardiomyopathy 11 12

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 612098
Disease Ontology 12 DOID:0110317
MedGen 40 C2677506
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 11

UniProtKB/Swiss-Prot : 66 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 hypertrophic cardiomyopathy and arrhythmia. An important gene associated with Cardiomyopathy, Hypertrophic, 11 is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14.

Description from OMIM: 612098

Related Diseases for Cardiomyopathy, Hypertrophic, 11

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 Cardiomyopathy, Infantile Hypertrophic

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

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 11

Symptoms by clinical synopsis from OMIM:

612098

Clinical features from OMIM:

612098

Human phenotypes related to Cardiomyopathy, Hypertrophic, 11:

32
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 arrhythmia 32 HP:0011675

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 11

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Role of the Novel 99mTc-NC100692 Tracer in Patients at High Risk or Known Breast Cancer Unknown status NCT01503697
2 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
3 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Recruiting NCT02520856
4 Triple Chamber Pacing in Hypertrophic Obstructive Cardiomyopathy (HOCM) Patients - TRICHAMPION STUDY Recruiting NCT01614717
5 Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic Cardiomyopathy Recruiting NCT02922517
6 Screening of Fabry Disease in Patients With Left Ventricular Hypertrophy Detected in Echocardiography Recruiting NCT02221141
7 Effect of Dry-weight Probing Guided by Lung-Ultrasound on Ambulatory Aortic Blood Pressure and Arterial Stiffness in Hemodialysis Patients (LUST Sub-Study) Recruiting NCT03058874
8 A Biomarker and MRI Study on Troponin Release After Exercise in Hypertrophic Cardiomyopathy Active, not recruiting NCT01559714

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 11

Genetic Tests for Cardiomyopathy, Hypertrophic, 11

Genetic tests related to Cardiomyopathy, Hypertrophic, 11:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 11 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 11

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

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 11

Variations for Cardiomyopathy, Hypertrophic, 11

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

66
id 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, Hypertrophic, 11:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.889G> T (p.Ala297Ser) single nucleotide variant Pathogenic rs121912675 GRCh37 Chromosome 15, 35083416: 35083416
2 ACTC1 NM_005159.4(ACTC1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs267606629 GRCh37 Chromosome 15, 35082750: 35082750
3 ACTC1 NM_005159.4(ACTC1): c.496C> G (p.Pro166Ala) single nucleotide variant Pathogenic rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
4 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
5 ACTC1 NM_005159.4(ACTC1): c.281A> G (p.Asn94Ser) single nucleotide variant Likely pathogenic rs767734253 GRCh37 Chromosome 15, 35085619: 35085619

Expression for Cardiomyopathy, Hypertrophic, 11

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

Pathways for Cardiomyopathy, Hypertrophic, 11

GO Terms for Cardiomyopathy, Hypertrophic, 11

Sources for Cardiomyopathy, Hypertrophic, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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