MCID: CRD088
MIFTS: 10

Cardiomyopathy, Familial Hypertrophic, 8 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 8

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 8 and has symptoms including An important gene associated with Cardiomyopathy, Familial Hypertrophic, 8 is MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow).

Description from OMIM:46 608751

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

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Cardiomyopathy, Familial Hypertrophic, 8, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 8 46


Classifications:



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, 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, 8

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Clinical features from OMIM:

608751

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 8:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 hypertrophic cardiomyopathy HP:0001639
4 restrictive cardiomyopathy HP:0001723
5 endocardial fibrosis HP:0006685

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 8

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 8

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 8

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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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 8:

64
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:

6
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 variantPathogenicrs104893749GRCh37Chr 3, 46900985: 46900985
3MYL3NM_000258.2(MYL3): c.427G> A (p.Glu143Lys)single nucleotide variantPathogenicrs104893750GRCh37Chr 3, 46901019: 46901019

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

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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

Sources for Cardiomyopathy, Familial Hypertrophic, 8

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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