MCID: CRD056
MIFTS: 17

Cardiomyopathy, Familial Hypertrophic, 11 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 11

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 11 and has symptoms including arrhythmia, autosomal dominant inheritance and hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 11 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:45 612098

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 11

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Cardiomyopathy, Familial Hypertrophic, 11, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 11 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


External Ids:

OMIM45 612098

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 11

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Diseases in the Hypertrophic Cardiomyopathy family:

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, 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 6 Cardiomyopathy, Familial Hypertrophic 17
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

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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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 11:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1122

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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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:

62
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 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 variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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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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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

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  • Antibodies
  • Proteins
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  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Familial Hypertrophic, 11

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet