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

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Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh ⁵³ ¹³ ⁶⁹

Cmd1hh ⁵³ ¹² ⁷¹

Dilated Cardiomyopathy 1hh ¹² ²⁸

Cardiomyopathy, Dilated 1hh ⁷¹

Characteristics:

OMIM:

⁵³

Inheritance:
autosomal dominant

HPO:

³¹

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: ³²

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

OMIM ⁵³ 613881

Disease Ontology ¹² DOID:0110448

ICD10 ³² I42.0

MedGen ³⁹ C3151293

MeSH ⁴¹ D002311

SNOMED-CT via HPO ⁶⁵ 263681008 42343007 84114007 more

UMLS ⁶⁹ C3151293

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Summaries for Cardiomyopathy, Dilated, 1hh

UniProtKB/Swiss-Prot : ⁷¹ 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, is also known as cmd1hh, 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 Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a	Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b	Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d	Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h	Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j	Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l	Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o	Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q	Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x	Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a	Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc	Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee	Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r	Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u	Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh	Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii	Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk	Cardiomyopathy, Dilated, 1nn
Dilated Cardiomyopathy 1t	Cardiomyopathy Due to Anthracyclines

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Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

Symptoms via clinical synopsis from OMIM:

⁵³

CardiovascularHeart:
heart failure
dilated left ventricle

Clinical features from OMIM:

613881

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	congestive heart failure ³¹		HP:0001635
2	dilated cardiomyopathy ³¹		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:

#	Genetic test	Affiliating Genes
1	Dilated Cardiomyopathy 1hh ²⁸	BAG3

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Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

³⁸

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

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	BAG3	BCL2 Associated Athanogene 3	Protein Coding	1329.53	Molecular basis known ⁵³ Pathogenic ⁶ Causative variation ⁷¹ Genetic Tests ²⁸ GeneCards inferred via : Disorders Variants (show sections)	20301486 21353195 21898660

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Variations for Cardiomyopathy, Dilated, 1hh

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

⁷¹

#	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 16)

#	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
14	BAG3	NM_004281.3(BAG3): c.670dup (p.Ser224Phefs)	duplication	Likely pathogenic	rs1135402750	GRCh38	Chromosome 10, 119672417: 119672417
15	BAG3	NM_004281.3(BAG3): c.1296_1297invAC (p.Gln433Ter)	inversion	Likely pathogenic		GRCh37	Chromosome 10, 121436362: 121436363
16	BAG3	NM_004281.3(BAG3): c.1161dup (p.Lys388Glnfs)	duplication	Likely pathogenic		GRCh37	Chromosome 10, 121436227: 121436227

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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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⁶⁷ TGDB

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⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia