MCID: CRD159
MIFTS: 17

Cardiomyopathy, Dilated, 1hh malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh 50 12
Cardiomyopathy, Dilated 1hh 68
 
Cmd1hh 68

Characteristics:

HPO:

62
cardiomyopathy, dilated, 1hh:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613881
MedGen35 C3151293
MeSH37 D002311

Summaries for Cardiomyopathy, Dilated, 1hh

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UniProtKB/Swiss-Prot:68 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 has symptoms including 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:50 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 Dmd-Related Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
Mypn-Related Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Cryab-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-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 cardiomyopathy11.4

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 congestive heart failure HP:0001635
2 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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Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1BAG3p.Arg71TrpVAR_065479rs387906874
2BAG3p.Arg477HisVAR_065480rs387906876
3BAG3p.Arg218TrpVAR_066781rs397514506
4BAG3p.Glu455LysVAR_066785rs397516881
5BAG3p.Leu462ProVAR_066786rs397514507
6BAG3p.Val468MetVAR_066787

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

5
id Gene Variation 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 variantLikely pathogenic, Pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
7BAG3NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)single nucleotide variantPathogenicrs397514507GRCh37Chr 10, 121436451: 121436451
8BAG3NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys)single nucleotide variantPathogenicrs397516881GRCh37Chr 10, 121436429: 121436429

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet