MCID: CRD087
MIFTS: 10

Cardiomyopathy, Familial Hypertrophic, 10 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 10

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

Description from OMIM:46 608758

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

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Cardiomyopathy, Familial Hypertrophic, 10, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 10 46


Classifications:



Related Diseases for Cardiomyopathy, Familial Hypertrophic, 10

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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

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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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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Familial Hypertrophic, 10

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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