MCID: CRD159
MIFTS: 23

Cardiomyopathy, Dilated, 1hh malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh 49 11 24
Cardiomyopathy, Dilated 1hh 67
 
Cmd1hh 67


Classifications:



External Ids:

OMIM49 613881
MedGen34 C3151293
MeSH36 D002311

Summaries for Cardiomyopathy, Dilated, 1hh

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UniProtKB/Swiss-Prot:67 Cardiomyopathy, dilated 1HH: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary: Cardiomyopathy, Dilated, 1hh, also known as cardiomyopathy, dilated 1hh, is related to bag3-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including autosomal dominant inheritance, congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2-Associated Athanogene 3). Affiliated tissues include heart.

Description from OMIM:49 613881

Related Diseases for Cardiomyopathy, Dilated, 1hh

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Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
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, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
cardiomyopathy, dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1bag3-related dilated cardiomyopathy10.4
2cardiomyopathy, dilated, 1a10.1

Symptoms for Cardiomyopathy, Dilated, 1hh

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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
3 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiomyopathy, Dilated, 1hh

Genetic Tests for Cardiomyopathy, Dilated, 1hh

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Genetic tests related to Cardiomyopathy, Dilated, 1hh:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1hh24

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1hh:

33
Heart

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BAG3NM_004281.3(BAG3): c.72delC (p.Gly25Aspfs)deletionLikely pathogenicrs727502897GRCh37Chr 10, 121411259: 121411259
2BAG3NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs)deletionLikely pathogenicrs727505109GRCh37Chr 10, 121436133: 121436133
3BAG3NM_004281.3(BAG3): c.100_107delACCGGCTG (p.Thr34Alafs)deletionLikely pathogenicrs727505283GRCh37Chr 10, 121411287: 121411294
4BAG3BAG3, EX4DELdeletionPathogenic
5BAG3NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)single nucleotide variantPathogenicrs387906874GRCh37Chr 10, 121429393: 121429393
6BAG3NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)single nucleotide variantLikely pathogenic, Pathogenicrs387906875GRCh37Chr 10, 121429549: 121429549
7BAG3BAG3, 1-BP DEL, 652CdeletionPathogenic
8BAG3NM_004281.3(BAG3): c.1430G> A (p.Arg477His)single nucleotide variantPathogenicrs387906876GRCh37Chr 10, 121436496: 121436496
9BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)single nucleotide variantLikely pathogenic, Pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
10BAG3NM_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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Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1hh.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1hh

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

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Sources for Cardiomyopathy, Dilated, 1hh

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet