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

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

Sources:
⁴⁹OMIM, ¹¹diseasecard, ⁶⁵UMLS, ⁶⁷UniProtKB/Swiss-Prot, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh ⁴⁹ ¹¹ ⁶⁵

Cardiomyopathy, Dilated 1hh ⁶⁷

Cmd1hh ⁶⁷

Characteristics:

HPO:

⁶¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM⁴⁹ 613881

MedGen³⁴ C3151293

MeSH³⁶ D002311

UMLS⁶⁵ C3151293

Summaries for Cardiomyopathy, Dilated, 1hh

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁴⁹OMIM, ³³MalaCards
See all MalaCards sources

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 has symptoms including congestive heart failureand 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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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	Cryab-Related Dilated Cardiomyopathy
Mypn-Related 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:

id	Related Disease	Score	Top Affiliating Genes
1	bag3-related dilated cardiomyopathy	11.4

Symptoms for Cardiomyopathy, Dilated, 1hh

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
See all MalaCards sources

Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1hh

Anatomical Context for Cardiomyopathy, Dilated, 1hh

Sources:
³³MalaCards
See all MalaCards sources

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

³³

Heart

Animal Models for Cardiomyopathy, Dilated, 1hh or affiliated genes

Publications for Cardiomyopathy, Dilated, 1hh

Genes related to Cardiomyopathy, Dilated, 1hh

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/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	1254.81	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ GeneCards inferred via : Disorders, Variants (show sections)

Variations for Cardiomyopathy, Dilated, 1hh

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar
See all MalaCards sources

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

⁶⁷

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

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

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BAG3	NM_004281.3(BAG3): c.72delC (p.Gly25Aspfs)	deletion	Likely pathogenic	rs727502897	GRCh37	Chr 10, 121411259: 121411259
2	BAG3	NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs)	deletion	Likely pathogenic	rs727505109	GRCh38	Chr 10, 119676621: 119676621
3	BAG3	NM_004281.3(BAG3): c.100_107delACCGGCTG (p.Thr34Alafs)	deletion	Likely pathogenic	rs727505283	GRCh38	Chr 10, 119651775: 119651782
4	BAG3	BAG3, EX4DEL	deletion	Pathogenic
5	BAG3	NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)	single nucleotide variant	Pathogenic	rs387906874	GRCh37	Chr 10, 121429393: 121429393
6	BAG3	NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)	single nucleotide variant	Likely pathogenic, Pathogenic	rs387906875	GRCh37	Chr 10, 121429549: 121429549
7	BAG3	BAG3, 1-BP DEL, 652C	deletion	Pathogenic
8	BAG3	NM_004281.3(BAG3): c.1430G> A (p.Arg477His)	single nucleotide variant	Pathogenic	rs387906876	GRCh37	Chr 10, 121436496: 121436496
9	BAG3	NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)	single nucleotide variant	Likely pathogenic, Pathogenic	rs397514506	GRCh37	Chr 10, 121431911: 121431911
10	BAG3	NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)	single nucleotide variant	Pathogenic	rs397514507	GRCh37	Chr 10, 121436451: 121436451