MCID: CRD088
MIFTS: 17

Cardiomyopathy, Familial Hypertrophic, 8 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

About this section

Aliases & Descriptions for Cardiomyopathy, Familial Hypertrophic, 8:

Name: Cardiomyopathy, Familial Hypertrophic, 8 46 9 22


Classifications:



External Ids:

OMIM46 608751

Summaries for Cardiomyopathy, Familial Hypertrophic, 8

About this section
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:46 608751

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 8

About this section

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

About this section


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

About this section

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

About this section

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

About this section

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

About this section

Publications for Cardiomyopathy, Familial Hypertrophic, 8

About this section

Variations for Cardiomyopathy, Familial Hypertrophic, 8

About this section

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

63
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:

5
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

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

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

About this section

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 8

About this section

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

About this section

Sources for Cardiomyopathy, Familial Hypertrophic, 8

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet