MCID: CRD159
MIFTS: 13

Cardiomyopathy, Dilated, 1hh malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases, Ear diseases, Neuronal diseases categories

Summaries for Cardiomyopathy, Dilated, 1hh

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48OMIM, 34MalaCards
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MalaCards: Cardiomyopathy, Dilated, 1hh is related to bag3-related dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2-associated athanogene 3).

Description from OMIM:48 613881

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

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48OMIM
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Classifications:



Aliases & Descriptions:

cardiomyopathy, dilated, 1hh 48


Related Diseases for Cardiomyopathy, Dilated, 1hh

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Dilated Cardiomyopathy family:

Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
Familial Dilated Cardiomyopathy Taz-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy Myh7-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Tpm1-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy Pln-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy Tmpo-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Dsg2-Related Dilated Cardiomyopathy
Nexn-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1ll Cardiomyopathy, Dilated, 1cc
Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1aa
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1e Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1jj Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated 1b
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated 1c
Cardiomyopathy, Dilated, 1dd cardiomyopathy, dilated, 1hh
Cardiomyopathy, Dilated, 1m Cardiomyopathy, Dilated, 1mm
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1s Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff

Diseases related to Cardiomyopathy, Dilated, 1hh via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bag3-related dilated cardiomyopathy10.3

Symptoms for Cardiomyopathy, Dilated, 1hh

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613881

Clinical features from OMIM:

613881

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

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

Search CenterWatch for Cardiomyopathy, Dilated, 1hh

Drug clinical trials:

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Search NIH Clinical Center for Cardiomyopathy, Dilated, 1hh

Search CenterWatch for Cardiomyopathy, Dilated, 1hh

Genetic Tests for Cardiomyopathy, Dilated, 1hh

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Anatomical Context for Cardiomyopathy, Dilated, 1hh

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Animal Models for Cardiomyopathy, Dilated, 1hh or affiliated genes

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Publications for Cardiomyopathy, Dilated, 1hh

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Variations for Cardiomyopathy, Dilated, 1hh

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1hh:

65
id Symbol AA change Variation ID SNP ID
1BAG3p.Arg71TrpVAR_065479
2BAG3p.Arg477HisVAR_065480
3BAG3p.Arg218TrpVAR_066781
4BAG3p.Glu455LysVAR_066785
5BAG3p.Leu462ProVAR_066786
6BAG3p.Val468MetVAR_066787

Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1hh:

1
id Gene Name Type Significance SNP ID Assembly Location
1BAG3BAG3, EX4DELdeletionPathogenic
2BAG3NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)single nucleotide variantPathogenicrs387906874GRCh37Chr 10, 121429393: 121429393
3BAG3NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)single nucleotide variantLikely pathogenic, Pathogenicrs387906875GRCh37Chr 10, 121429549: 121429549
4BAG3BAG3, 1-BP DEL, 652CdeletionPathogenic
5BAG3NM_004281.3(BAG3): c.1430G> A (p.Arg477His)single nucleotide variantPathogenicrs387906876GRCh37Chr 10, 121436496: 121436496
6BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
7BAG3NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)single nucleotide variantPathogenicrs397514507GRCh37Chr 10, 121436451: 121436451

Expression for genes affiliated with Cardiomyopathy, Dilated, 1hh

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Dilated, 1hh

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1hh.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1hh

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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1hh

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GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1hh

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Products for genes affiliated with Cardiomyopathy, Dilated, 1hh

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Dilated, 1hh

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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