MCID: CRD159
MIFTS: 19

Cardiomyopathy, Dilated, 1hh

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Ear diseases

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:



External Ids:

OMIM 53 613881
Disease Ontology 12 DOID:0110448
ICD10 32 I42.0
MedGen 39 C3151293
MeSH 41 D002311
UMLS 69 C3151293

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

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

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1hh

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

Genetic Tests for Cardiomyopathy, Dilated, 1hh

Genetic tests related to Cardiomyopathy, Dilated, 1hh:

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

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1hh

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

Expression for Cardiomyopathy, Dilated, 1hh

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

Pathways for Cardiomyopathy, Dilated, 1hh

GO Terms for Cardiomyopathy, Dilated, 1hh

Sources for Cardiomyopathy, Dilated, 1hh

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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