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

Summaries for Cardiomyopathy, Dilated, 1hh

Sources:
⁴⁶OMIM, ³²MalaCards
See all sources

MalaCards based summary: Cardiomyopathy, Dilated, 1hh and has symptoms including autosomal dominant inheritanceand congestive heart failure. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BCL2-associated athanogene 3).

Description from OMIM:⁴⁶ 613881

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

Sources:
⁴⁶OMIM
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Cardiomyopathy, Dilated, 1hh, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1hh ⁴⁶

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Muscle diseases, Ear diseases, Neuronal diseases

Related Diseases for Cardiomyopathy, Dilated, 1hh

Diseases in the Dilated Cardiomyopathy family:

Lmna-Related Dilated Cardiomyopathy	Cardiomyopathy Due to Anthracyclines
Familial Dilated Cardiomyopathy	Taz-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy	Myh7-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy	Tpm1-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy	Sgcd-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy	Actc1-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy	Pln-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy	Dmd-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy	Csrp3-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy	Abcc9-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy	Actn2-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy	Ankrd1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy	Psen1-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy	Tmpo-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy	Dsg2-Related Dilated Cardiomyopathy
Nexn-Related Dilated Cardiomyopathy	Rbm20-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy	Myh6-Related Dilated Cardiomyopathy
Cardiomyopathy, Dilated, 1ll	Cardiomyopathy, Dilated, 1cc
Cardiomyopathy, Dilated, 1a	Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1d	Cardiomyopathy, Dilated, 1aa
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 1b	Cardiomyopathy, Dilated, 1x
Cardiomyopathy, Dilated, 1kk	Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated 1c	Cardiomyopathy, Dilated, 1dd
cardiomyopathy, dilated, 1hh	Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1mm	Cardiomyopathy, Dilated, 1ii
Cardiomyopathy, Dilated, 1o	Cardiomyopathy, Dilated, 1t
Cardiomyopathy, Dilated, 1ee	Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r	Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb	Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff	Severe Dilated Cardiomyopathy Due to Lamin a/c Mutation

Symptoms for Cardiomyopathy, Dilated, 1hh

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all 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	autosomal dominant inheritance		HP:0000006
2	congestive heart failure		HP:0001635

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1hh

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1hh

Genetic Tests for Cardiomyopathy, Dilated, 1hh

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

Publications for Cardiomyopathy, Dilated, 1hh

Genes related to Cardiomyopathy, Dilated, 1hh

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to Cardiomyopathy, Dilated, 1hh:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	BAG3		BCL2-associated athanogene 3	20.00	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³

Products for genes related to Cardiomyopathy, Dilated, 1hh disease:

id	Company	Proteins	Antibodies	Kits and Assays
1	Antibodies-online	1	1	1
2	Novus Biologicals	1	1	-

Variations for Cardiomyopathy, Dilated, 1hh

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
See all sources

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

⁶³

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:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	BAG3	BAG3, EX4DEL	deletion	Pathogenic
2	BAG3	NM_004281.3(BAG3): c.211C> T (p.Arg71Trp)	single nucleotide variant	Pathogenic	rs387906874	GRCh37	Chr 10, 121429393: 121429393
3	BAG3	NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)	single nucleotide variant	Likely pathogenic, Pathogenic	rs387906875	GRCh37	Chr 10, 121429549: 121429549
4	BAG3	BAG3, 1-BP DEL, 652C	deletion	Pathogenic
5	BAG3	NM_004281.3(BAG3): c.1430G> A (p.Arg477His)	single nucleotide variant	Pathogenic	rs387906876	GRCh37	Chr 10, 121436496: 121436496
6	BAG3	NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)	single nucleotide variant	Pathogenic	rs397514506	GRCh37	Chr 10, 121431911: 121431911
7	BAG3	NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)	single nucleotide variant	Pathogenic	rs397514507	GRCh37	Chr 10, 121436451: 121436451