MCID: CRD159
MIFTS: 23

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 52 12 68
Cardiomyopathy, Dilated 1hh 70 27
 
Cmd1hh 11 70
Dilated Cardiomyopathy 1hh 11

Characteristics:

HPO:

64
cardiomyopathy, dilated, 1hh:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613881
Disease Ontology11 DOID:0110448
ICD1030 I42.0
MedGen37 C3151293
MeSH39 D002311

Summaries for Cardiomyopathy, Dilated, 1hh

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UniProtKB/Swiss-Prot:70 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 congestive heart failure and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2 Associated Athanogene 3). Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the BAG3 gene on chromosome 10q26.11.

Description from OMIM:52 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
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Prdm16-Related Dilated Cardiomyopathy Sdha-Related Dilated 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 cardiomyopathy11.1
2cardiomyopathy, dilated, 1a10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

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Symptoms by clinical synopsis from OMIM:

613881

Clinical features from OMIM:

613881

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

 64
id Description HPO Frequency HPO Source Accession
1 congestive heart failure64 HP:0001635
2 dilated cardiomyopathy64 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 1hh27

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

36
Heart

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:

70
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, EX4DELdeletionPathogenicChr na, -1: -1
2BAG3NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)SNVPathogenicrs387906874GRCh37Chr 10, 121429393: 121429393
3BAG3NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)SNVLikely pathogenic, Pathogenicrs387906875GRCh37Chr 10, 121429549: 121429549
4BAG3BAG3, 1-BP DEL, 652CdeletionPathogenicChr na, -1: -1
5BAG3NM_004281.3(BAG3): c.1430G> A (p.Arg477His)SNVPathogenicrs387906876GRCh37Chr 10, 121436496: 121436496
6BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)SNVLikely pathogenic, Pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
7BAG3NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)SNVPathogenicrs397514507GRCh37Chr 10, 121436451: 121436451
8BAG3NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys)SNVLikely pathogenic, Pathogenicrs397516881GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet