CMD1HH
MCID: CRD159
MIFTS: 28

Cardiomyopathy, Dilated, 1hh (CMD1HH)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh 57 13 70
Dilated Cardiomyopathy 1hh 12 29 6
Cmd1hh 57 12 72
Cardiomyopathy, Dilated, Type 1hh 39
Cardiomyopathy, Dilated 1hh 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1hh:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110448
OMIM® 57 613881
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C3151293
UMLS 70 C3151293

Summaries for Cardiomyopathy, Dilated, 1hh

UniProtKB/Swiss-Prot : 72 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 dilated cardiomyopathy 1hh. An important gene associated with Cardiomyopathy, Dilated, 1hh is BAG3 (BAG Cochaperone 3). Affiliated tissues include heart and smooth muscle, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the BAG3 gene on chromosome 10q26.11.

More information from OMIM: 613881 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
heart failure
dilated left ventricle

Clinical features from OMIM®:

613881 (Updated 05-Apr-2021)

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 29 BAG3

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

40
Heart, Smooth Muscle

Publications for Cardiomyopathy, Dilated, 1hh

Articles related to Cardiomyopathy, Dilated, 1hh:

(show all 21)
# Title Authors PMID Year
1
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 57 6
21898660 2011
2
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 57 6
21353195 2011
3
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. 6
30559338 2018
4
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. 6
28754666 2018
5
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 6
28611029 2017
6
Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling. 6
27321750 2016
7
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. 6
27443559 2016
8
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. 6
27164712 2016
9
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 6
26545904 2015
10
BAG3 myofibrillar myopathy presenting with cardiomyopathy. 6
25728519 2015
11
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 6
25448463 2014
12
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. 6
25273835 2014
13
Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy. 6
24623017 2014
14
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 6
25208129 2014
15
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. 6
25008357 2014
16
BAG3 mutations: another cause of giant axonal neuropathy. 6
22734908 2012
17
BAG3-related myofibrillar myopathy in a Chinese family. 6
21361913 2012
18
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 6
21459883 2011
19
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 6
20605452 2010
20
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 6
19085932 2009
21
Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells. 6
2159883 1990

Variations for Cardiomyopathy, Dilated, 1hh

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

6 (show top 50) (show all 376)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BAG3 BAG3, EX4DEL Deletion Pathogenic 30395 GRCh37:
GRCh38:
2 BAG3 NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) SNV Pathogenic 30396 rs387906874 GRCh37: 10:121429393-121429393
GRCh38: 10:119669881-119669881
3 BAG3 NM_004281.3(BAG3):c.652del (p.Arg218fs) Deletion Pathogenic 30398 rs1589630173 GRCh37: 10:121431909-121431909
GRCh38: 10:119672397-119672397
4 BAG3 NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) SNV Pathogenic 39464 rs397514506 GRCh37: 10:121431911-121431911
GRCh38: 10:119672399-119672399
5 BAG3 NM_004281.3(BAG3):c.1385T>C (p.Leu462Pro) SNV Pathogenic 39465 rs397514507 GRCh37: 10:121436451-121436451
GRCh38: 10:119676939-119676939
6 BAG3 NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) SNV Pathogenic 44778 rs397516881 GRCh37: 10:121436429-121436429
GRCh38: 10:119676917-119676917
7 BAG3 NM_004281.3(BAG3):c.1240G>T (p.Glu414Ter) SNV Pathogenic 410239 rs117749531 GRCh37: 10:121436306-121436306
GRCh38: 10:119676794-119676794
8 BAG3 NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) SNV Pathogenic 228322 rs869248137 GRCh37: 10:121435991-121435991
GRCh38: 10:119676479-119676479
9 BAG3 NM_004281.3(BAG3):c.268C>T (p.Arg90Ter) SNV Pathogenic 372723 rs1057517945 GRCh37: 10:121429450-121429450
GRCh38: 10:119669938-119669938
10 BAG3 NM_004281.3(BAG3):c.699C>A (p.Tyr233Ter) SNV Pathogenic 234982 rs876661342 GRCh37: 10:121431958-121431958
GRCh38: 10:119672446-119672446
11 BAG3 NM_004281.3(BAG3):c.607dup (p.Arg203fs) Duplication Pathogenic 410229 rs1554877224 GRCh37: 10:121431865-121431866
GRCh38: 10:119672353-119672354
12 BAG3 NM_004281.3(BAG3):c.1067del (p.Pro356fs) Deletion Pathogenic 179764 rs727505109 GRCh37: 10:121436129-121436129
GRCh38: 10:119676617-119676617
13 BAG3 NM_004281.3(BAG3):c.1161dup (p.Lys388fs) Duplication Pathogenic 471798 rs1554877765 GRCh37: 10:121436222-121436223
GRCh38: 10:119676710-119676711
14 BAG3 NM_004281.3(BAG3):c.277dup (p.Tyr93fs) Duplication Pathogenic 566318 rs1564773589 GRCh37: 10:121429458-121429459
GRCh38: 10:119669946-119669947
15 BAG3 NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter) Inversion Pathogenic 471799 GRCh37: 10:121436362-121436363
GRCh38: 10:119676850-119676851
16 BAG3 NM_004281.3(BAG3):c.146G>A (p.Trp49Ter) SNV Pathogenic 566338 rs1564767043 GRCh37: 10:121411333-121411333
GRCh38: 10:119651821-119651821
17 BAG3 NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) SNV Pathogenic 228246 rs876657634 GRCh37: 10:121431989-121431989
GRCh38: 10:119672477-119672477
18 BAG3 NM_004281.3(BAG3):c.537C>A (p.Cys179Ter) SNV Pathogenic 570844 rs1564774433 GRCh37: 10:121431796-121431796
GRCh38: 10:119672284-119672284
19 BAG3 NM_004281.3(BAG3):c.262C>T (p.Gln88Ter) SNV Pathogenic 518933 rs1554877001 GRCh37: 10:121429444-121429444
GRCh38: 10:119669932-119669932
20 BAG3 NM_004281.3(BAG3):c.514C>T (p.Gln172Ter) SNV Pathogenic 648595 rs1589630001 GRCh37: 10:121431773-121431773
GRCh38: 10:119672261-119672261
21 BAG3 NC_000010.11:g.(?_119676454)_(119677500_?)del Deletion Pathogenic 645351 GRCh37: 10:121435966-121437012
GRCh38: 10:119676454-119677500
22 BAG3 NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) SNV Pathogenic 842686 GRCh37: 10:121429585-121429585
GRCh38: 10:119670073-119670073
23 BAG3 NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) SNV Pathogenic 862211 GRCh37: 10:121432024-121432024
GRCh38: 10:119672512-119672512
24 BAG3 NM_004281.3(BAG3):c.855_859dup (p.Leu287fs) Duplication Pathogenic 373624 rs1057518511 GRCh37: 10:121432110-121432111
GRCh38: 10:119672598-119672599
25 BAG3 NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) SNV Pathogenic 840339 GRCh37: 10:121436012-121436012
GRCh38: 10:119676500-119676500
26 BAG3 NM_004281.4(BAG3):c.974del (p.Pro325fs) Deletion Pathogenic 854159 GRCh37: 10:121436039-121436039
GRCh38: 10:119676527-119676527
27 BAG3 NM_004281.4(BAG3):c.751del (p.Gln251fs) Deletion Pathogenic 935177 GRCh37: 10:121432009-121432009
GRCh38: 10:119672497-119672497
28 BAG3 NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) SNV Pathogenic 949224 GRCh37: 10:121411295-121411295
GRCh38: 10:119651783-119651783
29 BAG3 NM_004281.4(BAG3):c.329dup (p.His112fs) Duplication Pathogenic 957662 GRCh37: 10:121429508-121429509
GRCh38: 10:119669996-119669997
30 BAG3 NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) SNV Pathogenic 957818 GRCh37: 10:121436123-121436123
GRCh38: 10:119676611-119676611
31 BAG3 NM_004281.4(BAG3):c.72dup (p.Gly25fs) Duplication Pathogenic 966196 GRCh37: 10:121411253-121411254
GRCh38: 10:119651741-119651742
32 BAG3 NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) Deletion Pathogenic 966374 GRCh37: 10:121436096-121436097
GRCh38: 10:119676584-119676585
33 BAG3 NM_004281.3(BAG3):c.258C>G (p.Tyr86Ter) SNV Pathogenic 504333 rs1554876999 GRCh37: 10:121429440-121429440
GRCh38: 10:119669928-119669928
34 BAG3 NM_004281.3(BAG3):c.625C>T (p.Pro209Ser) SNV Pathogenic 657299 rs1589630141 GRCh37: 10:121431884-121431884
GRCh38: 10:119672372-119672372
35 BAG3 NM_004281.3(BAG3):c.1430G>A (p.Arg477His) SNV Pathogenic 30399 rs387906876 GRCh37: 10:121436496-121436496
GRCh38: 10:119676984-119676984
36 BAG3 NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) SNV Pathogenic 30397 rs387906875 GRCh37: 10:121429549-121429549
GRCh38: 10:119670037-119670037
37 BAG3 NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) SNV Pathogenic 30397 rs387906875 GRCh37: 10:121429549-121429549
GRCh38: 10:119670037-119670037
38 BAG3 NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) SNV Pathogenic 5981 rs121918312 GRCh37: 10:121431885-121431885
GRCh38: 10:119672373-119672373
39 BAG3 NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) SNV Likely pathogenic 843736 GRCh37: 10:121436474-121436474
GRCh38: 10:119676962-119676962
40 BAG3 NM_004281.3(BAG3):c.1418dup (p.Ala474fs) Duplication Likely pathogenic 638010 rs1589632876 GRCh37: 10:121436483-121436484
GRCh38: 10:119676971-119676972
41 BAG3 NM_004281.3(BAG3):c.1345A>T (p.Lys449Ter) SNV Likely pathogenic 410230 rs1060502815 GRCh37: 10:121436411-121436411
GRCh38: 10:119676899-119676899
42 BAG3 NM_004281.3(BAG3):c.670dup (p.Ser224fs) Duplication Likely pathogenic 431449 rs1135402750 GRCh37: 10:121431928-121431929
GRCh38: 10:119672416-119672417
43 BAG3 NM_004281.3(BAG3):c.191C>T (p.Ser64Phe) SNV Uncertain significance 430505 rs780615753 GRCh37: 10:121429373-121429373
GRCh38: 10:119669861-119669861
44 BAG3 NM_004281.3(BAG3):c.574G>A (p.Gly192Ser) SNV Uncertain significance 471803 rs201487919 GRCh37: 10:121431833-121431833
GRCh38: 10:119672321-119672321
45 BAG3 NM_004281.3(BAG3):c.692C>T (p.Thr231Met) SNV Uncertain significance 471805 rs747454279 GRCh37: 10:121431951-121431951
GRCh38: 10:119672439-119672439
46 BAG3 NC_000010.10:g.(?_121410882)_(121429689_?)dup Duplication Uncertain significance 417519 GRCh37: 10:121410882-121429689
GRCh38: 10:119651370-119670177
47 BAG3 NM_004281.3(BAG3):c.460G>A (p.Val154Met) SNV Uncertain significance 389437 rs376198104 GRCh37: 10:121429642-121429642
GRCh38: 10:119670130-119670130
48 BAG3 NM_004281.3(BAG3):c.668C>G (p.Pro223Arg) SNV Uncertain significance 222511 rs754615028 GRCh37: 10:121431927-121431927
GRCh38: 10:119672415-119672415
49 BAG3 NM_004281.3(BAG3):c.133C>T (p.Arg45Cys) SNV Uncertain significance 410233 rs747820097 GRCh37: 10:121411320-121411320
GRCh38: 10:119651808-119651808
50 BAG3 NM_004281.3(BAG3):c.289C>T (p.Pro97Ser) SNV Uncertain significance 410235 rs747274078 GRCh37: 10:121429471-121429471
GRCh38: 10:119669959-119669959

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

72
# 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

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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