MCID: CRD056
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 11 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 11

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 11 is related to paraganglioma, and has symptoms including An important gene associated with Cardiomyopathy, Familial Hypertrophic, 11 is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Clathrin dependent protein traffic and Cell adhesion Integrin mediated cell adhesion and migration. The compound dexamethasone have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:46 612098

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 11

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Cardiomyopathy, Familial Hypertrophic, 11, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 11 46


Classifications:



Related Diseases for Cardiomyopathy, Familial Hypertrophic, 11

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Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 22 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 4
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 14
Cardiomyopathy, Familial Hypertrophic, 1 cardiomyopathy, familial hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 3 Cardiomyopathy, Familial Hypertrophic, 19
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic 17
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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

idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma10.1ACTC1

Symptoms for Cardiomyopathy, Familial Hypertrophic, 11

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Symptoms by clinical synopsis from OMIM:

612098

Clinical features from OMIM:

612098

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 11:

id Description Frequency HPO Source Accession
1 arrhythmia rare (5%) HP:0011675
2 autosomal dominant inheritance HP:0000006
3 hypertrophic cardiomyopathy HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 11

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 11

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 11

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 11

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 11

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 11 or affiliated genes

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MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 11:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ACTC1, ACTG1

Publications for Cardiomyopathy, Familial Hypertrophic, 11

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Variations for Cardiomyopathy, Familial Hypertrophic, 11

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

64
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, Familial Hypertrophic, 11:

6
id Gene Name 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 variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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Pathways related to Cardiomyopathy, Familial Hypertrophic, 11 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ACTC1, ACTG1
2
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1ACTC1, ACTG1
3
Show member pathways
Calcium Regulation in the Cardiac Cell37
9.1ACTC1, ACTG1
49.1ACTC1, ACTG1
5
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
9.1ACTG1, ACTC1
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.1ACTC1, ACTG1
79.1ACTC1, ACTG1
89.1ACTG1, ACTC1
9
Show member pathways
9.1ACTC1, ACTG1
109.1ACTC1, ACTG1

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Cardiomyopathy, Familial Hypertrophic, 11 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 28 1112.1ACTC1, ACTG1

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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Cellular components related to Cardiomyopathy, Familial Hypertrophic, 11 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.1ACTC1, ACTG1
2blood microparticleGO:0725629.0ACTC1, ACTG1
3extracellular spaceGO:0056158.8ACTC1, ACTG1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 11 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1ACTC1, ACTG1

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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Sources for Cardiomyopathy, Familial Hypertrophic, 11

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet