MCID: CRD087
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 10 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 10

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 10 and has symptoms including autosomal dominant inheritance, hypertrophic cardiomyopathy and ventricular tachycardia. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 10 is MYL2 (myosin, light chain 2, regulatory, cardiac, slow).

Description from OMIM:47 608758

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

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Cardiomyopathy, Familial Hypertrophic, 10, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 10 47 11 24


Classifications:

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


External Ids:

OMIM47 608758

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 10

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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, 10

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Clinical features from OMIM:

608758

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 10:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertrophic cardiomyopathy HP:0001639
3 ventricular tachycardia HP:0004756
4 left ventricular septal hypertrophy HP:0005144

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 10

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 10

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 10

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 10:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1024

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 10

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 10 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 10

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Variations for Cardiomyopathy, Familial Hypertrophic, 10

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 10:

64
id Symbol AA change Variation ID SNP ID
1MYL2p.Ala13ThrVAR_004601rs104894363
2MYL2p.Phe18LeuVAR_004602rs28932774
3MYL2p.Glu22LysVAR_004603
4MYL2p.Arg58GlnVAR_004604rs28933099
5MYL2p.Pro95AlaVAR_004605
6MYL2p.Asp166ValVAR_019844

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 10:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MYL2NM_000432.3(MYL2): c.37G> A (p.Ala13Thr)single nucleotide variantPathogenicrs104894363GRCh37Chr 12, 111356964: 111356964
2MYL2NM_000432.3(MYL2): c.64G> A (p.Glu22Lys)single nucleotide variantPathogenicrs104894368GRCh37Chr 12, 111356937: 111356937
3MYL2NM_000432.3(MYL2): c.283C> G (p.Pro95Ala)single nucleotide variantPathogenicrs121913658GRCh37Chr 12, 111351120: 111351120
4MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantPathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
5MYL2NM_000432.3(MYL2): c.52T> C (p.Phe18Leu)single nucleotide variantPathogenicrs104894370GRCh37Chr 12, 111356949: 111356949

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 10.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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Sources for Cardiomyopathy, Familial Hypertrophic, 10

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet