Cardiomyopathy, Dilated, 1hh disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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 1c	Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b	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	Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy	Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy	Scn5a-Related Dilated Cardiomyopathy
Sdha-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:

id	Related Disease	Score	Top Affiliating Genes
1	bag3-related dilated cardiomyopathy	11.1
2	cardiomyopathy, dilated, 1a	10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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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

Sources:
⁴ClinicalTrials
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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1hh

Sources:
²⁷GTR
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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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1hh:

³⁶

Heart

Publications for Cardiomyopathy, Dilated, 1hh

Genes related to Cardiomyopathy, Dilated, 1hh

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to Cardiomyopathy, Dilated, 1hh (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	BAG3	BCL2 Associated Athanogene 3	1230.00	Molecular basis known ⁵² Pathogenic ⁵ Causative variation ⁷⁰ GeneCards inferred via : Disorders, Variants (show sections)	21353195, 20301486, 21898660

Variations for Cardiomyopathy, Dilated, 1hh

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1hh:

⁷⁰

id	Symbol	AA change	Variation ID	SNP ID
1	BAG3	p.Arg71Trp	VAR_065479	rs387906874
2	BAG3	p.Arg477His	VAR_065480	rs387906876
3	BAG3	p.Arg218Trp	VAR_066781	rs397514506
4	BAG3	p.Glu455Lys	VAR_066785	rs397516881
5	BAG3	p.Leu462Pro	VAR_066786	rs397514507
6	BAG3	p.Val468Met	VAR_066787

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

⁵ (show all 13)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BAG3	NM_ 004281.3(BAG3): c.1067delC (p.Pro356Hisfs)	deletion	Likely pathogenic	rs727505109	GRCh38	Chr 10, 119676621: 119676621
2	BAG3	NM_ 004281.3(BAG3): c.925C> T (p.Arg309Ter)	SNV	Pathogenic	rs869248137	GRCh37	Chr 10, 121435991: 121435991
3	BAG3	NM_ 004281.3(BAG3): c.699C> A (p.Tyr233Ter)	SNV	Pathogenic/ Likely pathogenic	rs876661342	GRCh37	Chr 10, 121431958: 121431958
4	BAG3	BAG3, EX4DEL	deletion	Pathogenic
5	BAG3	NM_ 004281.3(BAG3): c.367C> T (p.Arg123Ter)	SNV	Pathogenic/ Likely pathogenic	rs387906875	GRCh37	Chr 10, 121429549: 121429549
6	BAG3	BAG3, 1-BP DEL, 652C	deletion	Pathogenic
7	BAG3	NM_ 004281.3(BAG3): c.1430G> A (p.Arg477His)	SNV	Pathogenic	rs387906876	GRCh37	Chr 10, 121436496: 121436496
8	BAG3	NM_ 004281.3(BAG3): c.268C> T (p.Arg90Ter)	SNV	Pathogenic	rs1057517945	GRCh37	Chr 10, 121429450: 121429450
9	BAG3	NM_ 004281.3(BAG3): c.652C> T (p.Arg218Trp)	SNV	Pathogenic/ Likely pathogenic	rs397514506	GRCh37	Chr 10, 121431911: 121431911
10	BAG3	NM_ 004281.3(BAG3): c.1385T> C (p.Leu462Pro)	SNV	Pathogenic/ Likely pathogenic	rs397514507	GRCh37	Chr 10, 121436451: 121436451
11	BAG3	NM_ 004281.3(BAG3): c.607dupC (p.Arg203Profs)	duplication	Pathogenic		GRCh38	Chr 10, 119672354: 119672354
12	BAG3	NM_ 004281.3(BAG3): c.1345A> T (p.Lys449Ter)	SNV	Likely pathogenic	rs1060502815	GRCh38	Chr 10, 119676899: 119676899
13	BAG3	NM_ 004281.3(BAG3): c.1240G> T (p.Glu414Ter)	SNV	Likely pathogenic	rs117749531	GRCh38	Chr 10, 119676794: 119676794