MCID: CRD088
MIFTS: 10

Cardiomyopathy, Familial Hypertrophic, 8 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 8

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48OMIM, 34MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 8 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 8 is MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow).

Description from OMIM:48 608751

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

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48OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 8 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 8

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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, 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, 8

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48OMIM
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Clinical features from OMIM:

608751

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 8

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 8

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 8

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 8 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 8

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Variations for Cardiomyopathy, Familial Hypertrophic, 8

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 8:

65
id Symbol AA change Variation ID SNP ID
1MYL3p.Met149ValVAR_004599
2MYL3p.Arg154HisVAR_004600
3MYL3p.Glu56GlyVAR_019842
4MYL3p.Glu143LysVAR_019843

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 8:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYL3NM_000258.2(MYL3): c.445A> G (p.Met149Val)single nucleotide variantPathogenicrs104893748GRCh37Chr 3, 46901001: 46901001
2MYL3NM_000258.2(MYL3): c.461G> A (p.Arg154His)single nucleotide variantPathogenic, Uncertain significancers104893749GRCh37Chr 3, 46900985: 46900985
3MYL3NM_000258.2(MYL3): c.427G> A (p.Glu143Lys)single nucleotide variantPathogenic, Uncertain significancers104893750GRCh37Chr 3, 46901019: 46901019

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 8.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 8

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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