MCID: CRD087
MIFTS: 10

Cardiomyopathy, Familial Hypertrophic, 10 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 10

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Cardiomyopathy, Familial Hypertrophic, 10 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 10 is MYL2 (myosin, light chain 2, regulatory, cardiac, slow).

Description from OMIM:48 608758

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 10 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 10

About this section

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, 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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

608758

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 10

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 10

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 10

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 10

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 10

About this section

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 10

About this section

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

About this section

Publications for Cardiomyopathy, Familial Hypertrophic, 10

About this section

Variations for Cardiomyopathy, Familial Hypertrophic, 10

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYL2NM_000432.3(MYL2): c.37G> A (p.Ala13Thr)single nucleotide variantPathogenic, Uncertain significancers104894363GRCh37Chr 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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

About this section

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

About this section

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 10

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 10

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet