MCID: CRD159
MIFTS: 12

Cardiomyopathy, Dilated, 1hh malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases, Ear diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Cardiomyopathy, Dilated, 1hh

About this section


Fully expand this MalaCard
MalaCards based summary: Cardiomyopathy, Dilated, 1hh and has symptoms including An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2-associated athanogene 3).

Description from OMIM:46 613881

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

About this section

Cardiomyopathy, Dilated, 1hh, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1hh 46


Classifications:



Related Diseases for Cardiomyopathy, Dilated, 1hh

About this section

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, 1nn
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, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Severe Dilated Cardiomyopathy Due to Lamin a/c Mutation

Symptoms for Cardiomyopathy, Dilated, 1hh

About this section

Symptoms by clinical synopsis from OMIM:

613881

Clinical features from OMIM:

613881

HPO human phenotypes related to Cardiomyopathy, Dilated, 1hh:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 congestive heart failure HP:0001635

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

About this section

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1hh

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1hh

Genetic Tests for Cardiomyopathy, Dilated, 1hh

About this section

Anatomical Context for Cardiomyopathy, Dilated, 1hh

About this section

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

About this section

Publications for Cardiomyopathy, Dilated, 1hh

About this section

Variations for Cardiomyopathy, Dilated, 1hh

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1hh:

64
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:

6
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 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

About this section
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

About this section

Compounds for genes affiliated with Cardiomyopathy, Dilated, 1hh

About this section

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

About this section

Products for genes affiliated with Cardiomyopathy, Dilated, 1hh

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Dilated, 1hh

About this section
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