CMD1HH
MCID: CRD159
MIFTS: 23

Cardiomyopathy, Dilated, 1hh (CMD1HH) malady

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

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:



External Ids:

OMIM 54 613881
Disease Ontology 12 DOID:0110448
ICD10 33 I42.0
MedGen 40 C3151293
MeSH 42 D002311

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

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

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

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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1hh 29

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1hh

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

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

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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