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

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Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh ⁵⁴ ¹³ ⁶⁹

Cardiomyopathy, Dilated 1hh ⁶⁶ ²⁹

Cmd1hh ¹² ⁶⁶

Dilated Cardiomyopathy 1hh ¹²

Characteristics:

HPO:

³²

cardiomyopathy, dilated, 1hh:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

OMIM ⁵⁴ 613881

Disease Ontology ¹² DOID:0110448

ICD10 ³³ I42.0

MedGen ⁴⁰ C3151293

MeSH ⁴² D002311

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Summaries for Cardiomyopathy, Dilated, 1hh

UniProtKB/Swiss-Prot : ⁶⁶ 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 : ¹² A dilated cardiomyopathy that has material basis in mutation in the BAG3 gene on chromosome 10q26.11.

Description from OMIM: 613881

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Related Diseases for Cardiomyopathy, Dilated, 1hh

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

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Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

Symptoms by clinical synopsis from OMIM:

613881

Clinical features from OMIM:

613881

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

³²

id	Description	HPO Frequency	HPO Source Accession
1	congestive heart failure ³²		HP:0001635
2	dilated cardiomyopathy ³²		HP:0001644

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Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

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

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Genetic Tests for Cardiomyopathy, Dilated, 1hh

Genetic tests related to Cardiomyopathy, Dilated, 1hh:

id	Genetic test	Affiliating Genes
1	Dilated Cardiomyopathy 1hh ²⁹

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Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

³⁹

Heart

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Publications for Cardiomyopathy, Dilated, 1hh

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Genes for Cardiomyopathy, Dilated, 1hh

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	Molecular basis known ⁵⁴ Pathogenic ⁶ Causative variation ⁶⁶ GeneCards inferred via : Disorders Variants (show sections)	21353195 20301486 21898660

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Variations for Cardiomyopathy, Dilated, 1hh

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

⁶⁶

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:

⁶ (show all 13)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BAG3	BAG3, EX4DEL	deletion	Pathogenic
2	BAG3	NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906875	GRCh37	Chromosome 10, 121429549: 121429549
3	BAG3	BAG3, 1-BP DEL, 652C	deletion	Pathogenic
4	BAG3	NM_004281.3(BAG3): c.1430G> A (p.Arg477His)	single nucleotide variant	Pathogenic	rs387906876	GRCh37	Chromosome 10, 121436496: 121436496
5	BAG3	NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397514506	GRCh37	Chromosome 10, 121431911: 121431911
6	BAG3	NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397514507	GRCh37	Chromosome 10, 121436451: 121436451
7	BAG3	NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs)	deletion	Likely pathogenic	rs727505109	GRCh38	Chromosome 10, 119676621: 119676621
8	BAG3	NM_004281.3(BAG3): c.925C> T (p.Arg309Ter)	single nucleotide variant	Pathogenic	rs869248137	GRCh37	Chromosome 10, 121435991: 121435991
9	BAG3	NM_004281.3(BAG3): c.699C> A (p.Tyr233Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs876661342	GRCh37	Chromosome 10, 121431958: 121431958
10	BAG3	NM_004281.3(BAG3): c.268C> T (p.Arg90Ter)	single nucleotide variant	Pathogenic	rs1057517945	GRCh37	Chromosome 10, 121429450: 121429450
11	BAG3	NM_004281.3(BAG3): c.1345A> T (p.Lys449Ter)	single nucleotide variant	Likely pathogenic	rs1060502815	GRCh38	Chromosome 10, 119676899: 119676899
12	BAG3	NM_004281.3(BAG3): c.607dupC (p.Arg203Profs)	duplication	Pathogenic		GRCh38	Chromosome 10, 119672354: 119672354
13	BAG3	NM_004281.3(BAG3): c.1240G> T (p.Glu414Ter)	single nucleotide variant	Likely pathogenic	rs117749531	GRCh38	Chromosome 10, 119676794: 119676794

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Expression for Cardiomyopathy, Dilated, 1hh

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1hh.

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Pathways for Cardiomyopathy, Dilated, 1hh

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GO Terms for Cardiomyopathy, Dilated, 1hh

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Sources for Cardiomyopathy, Dilated, 1hh

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¹⁹ GeneAnalytics

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁵ NCBI Bookshelf

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⁵⁴ OMIM

⁵⁵ OMIM via Orphanet

⁵⁶ Orphanet

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⁵⁹ PubMed

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⁶¹ R&D Systems

⁶² Reactome

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⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via Orphanet

⁶⁶ UniProtKB/Swiss-Prot

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ Wikipedia

Cardiomyopathy, Dilated, 1hh (CMD1HH) malady

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Dilated, 1hh

Related Diseases for Cardiomyopathy, Dilated, 1hh

Diseases in the Cardiomyopathy family:

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

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

Symptoms by clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

Genetic Tests for Cardiomyopathy, Dilated, 1hh

Genetic tests related to Cardiomyopathy, Dilated, 1hh:

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

Publications for Cardiomyopathy, Dilated, 1hh

Genes for Cardiomyopathy, Dilated, 1hh

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

Variations for Cardiomyopathy, Dilated, 1hh

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

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

Expression for Cardiomyopathy, Dilated, 1hh

Pathways for Cardiomyopathy, Dilated, 1hh

GO Terms for Cardiomyopathy, Dilated, 1hh

Sources for Cardiomyopathy, Dilated, 1hh