MCID: CRD088
MIFTS: 17

Cardiomyopathy, Familial Hypertrophic, 8 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

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Cardiomyopathy, Familial Hypertrophic, 8, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 8 45 10 22


Classifications:

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


External Ids:

OMIM45 608751

Summaries for Cardiomyopathy, Familial Hypertrophic, 8

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

Description from OMIM:45 608751

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 8

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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, 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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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 8:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 822

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:

62
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 Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Familial Hypertrophic, 8

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet