CMD1HH
MCID: CRD159
MIFTS: 20

Cardiomyopathy, Dilated, 1hh (CMD1HH)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh 58 13 74
Dilated Cardiomyopathy 1hh 12 30 6
Cmd1hh 58 12 76
Cardiomyopathy, Dilated, Type 1hh 41
Cardiomyopathy, Dilated 1hh 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, 1hh:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110448
OMIM 58 613881
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C3151293
UMLS 74 C3151293

Summaries for Cardiomyopathy, Dilated, 1hh

UniProtKB/Swiss-Prot : 76 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 (BCL2 Associated Athanogene 3). Affiliated tissues include heart, 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.

Description from OMIM: 613881

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1hh

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
heart failure
dilated left ventricle

Clinical features from OMIM:

613881

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 30 BAG3

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1hh

Articles related to Cardiomyopathy, Dilated, 1hh:

# Title Authors Year
1
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. ( 21898660 )
2011
2
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. ( 21353195 )
2011

Variations for Cardiomyopathy, Dilated, 1hh

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

76
# 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 top 50) (show all 305)
# Gene Variation Type Significance SNP ID Assembly Location
1 BAG3 NM_004281.3(BAG3): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs121918312 GRCh37 Chromosome 10, 121431885: 121431885
2 BAG3 NM_004281.3(BAG3): c.626C> T (p.Pro209Leu) single nucleotide variant Pathogenic rs121918312 GRCh38 Chromosome 10, 119672373: 119672373
3 BAG3 BAG3, EX4DEL deletion Pathogenic
4 BAG3 NM_004281.3(BAG3): c.211C> T (p.Arg71Trp) single nucleotide variant Uncertain significance rs387906874 GRCh37 Chromosome 10, 121429393: 121429393
5 BAG3 NM_004281.3(BAG3): c.211C> T (p.Arg71Trp) single nucleotide variant Uncertain significance rs387906874 GRCh38 Chromosome 10, 119669881: 119669881
6 BAG3 NM_004281.3(BAG3): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387906875 GRCh37 Chromosome 10, 121429549: 121429549
7 BAG3 NM_004281.3(BAG3): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387906875 GRCh38 Chromosome 10, 119670037: 119670037
8 BAG3 BAG3, 1-BP DEL, 652C deletion Pathogenic
9 BAG3 NM_004281.3(BAG3): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs387906876 GRCh37 Chromosome 10, 121436496: 121436496
10 BAG3 NM_004281.3(BAG3): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs387906876 GRCh38 Chromosome 10, 119676984: 119676984
11 BAG3 NM_004281.3(BAG3): c.652C> T (p.Arg218Trp) single nucleotide variant Uncertain significance rs397514506 GRCh37 Chromosome 10, 121431911: 121431911
12 BAG3 NM_004281.3(BAG3): c.652C> T (p.Arg218Trp) single nucleotide variant Uncertain significance rs397514506 GRCh38 Chromosome 10, 119672399: 119672399
13 BAG3 NM_004281.3(BAG3): c.652C> T (p.Arg218Trp) single nucleotide variant Uncertain significance rs397514506 NCBI36 Chromosome 10, 121421901: 121421901
14 BAG3 NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro) single nucleotide variant Likely pathogenic rs397514507 GRCh37 Chromosome 10, 121436451: 121436451
15 BAG3 NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro) single nucleotide variant Likely pathogenic rs397514507 GRCh38 Chromosome 10, 119676939: 119676939
16 BAG3 NM_004281.3(BAG3): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117671123 GRCh37 Chromosome 10, 121432031: 121432031
17 BAG3 NM_004281.3(BAG3): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117671123 GRCh38 Chromosome 10, 119672519: 119672519
18 BAG3 NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516881 GRCh37 Chromosome 10, 121436429: 121436429
19 BAG3 NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516881 GRCh38 Chromosome 10, 119676917: 119676917
20 BAG3 NM_004281.3(BAG3): c.212G> A (p.Arg71Gln) single nucleotide variant Benign/Likely benign rs35434411 GRCh37 Chromosome 10, 121429394: 121429394
21 BAG3 NM_004281.3(BAG3): c.212G> A (p.Arg71Gln) single nucleotide variant Benign/Likely benign rs35434411 GRCh38 Chromosome 10, 119669882: 119669882
22 BAG3 NM_004281.3(BAG3): c.231G> A (p.Pro77=) single nucleotide variant Benign/Likely benign rs143752613 GRCh37 Chromosome 10, 121429413: 121429413
23 BAG3 NM_004281.3(BAG3): c.231G> A (p.Pro77=) single nucleotide variant Benign/Likely benign rs143752613 GRCh38 Chromosome 10, 119669901: 119669901
24 BAG3 NM_004281.3(BAG3): c.249C> A (p.His83Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs151331972 GRCh37 Chromosome 10, 121429431: 121429431
25 BAG3 NM_004281.3(BAG3): c.249C> A (p.His83Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs151331972 GRCh38 Chromosome 10, 119669919: 119669919
26 BAG3 NM_004281.3(BAG3): c.463G> A (p.Ala155Thr) single nucleotide variant Benign/Likely benign rs61756328 GRCh37 Chromosome 10, 121429645: 121429645
27 BAG3 NM_004281.3(BAG3): c.463G> A (p.Ala155Thr) single nucleotide variant Benign/Likely benign rs61756328 GRCh38 Chromosome 10, 119670133: 119670133
28 BAG3 NM_004281.3(BAG3): c.474_476dupGGC (p.Ala160_Gln161insAla) duplication Benign/Likely benign rs139438727 GRCh37 Chromosome 10, 121429656: 121429658
29 BAG3 NM_004281.3(BAG3): c.474_476dupGGC (p.Ala160_Gln161insAla) duplication Benign/Likely benign rs139438727 GRCh38 Chromosome 10, 119670144: 119670146
30 BAG3 NM_004281.3(BAG3): c.606G> T (p.Pro202=) single nucleotide variant Benign/Likely benign rs74157690 GRCh37 Chromosome 10, 121431865: 121431865
31 BAG3 NM_004281.3(BAG3): c.606G> T (p.Pro202=) single nucleotide variant Benign/Likely benign rs74157690 GRCh38 Chromosome 10, 119672353: 119672353
32 BAG3 NM_004281.3(BAG3): c.785C> T (p.Ala262Val) single nucleotide variant Uncertain significance rs397516883 GRCh37 Chromosome 10, 121432044: 121432044
33 BAG3 NM_004281.3(BAG3): c.785C> T (p.Ala262Val) single nucleotide variant Uncertain significance rs397516883 GRCh38 Chromosome 10, 119672532: 119672532
34 BAG3 NM_004281.3(BAG3): c.821C> T (p.Ser274Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143919208 GRCh37 Chromosome 10, 121432080: 121432080
35 BAG3 NM_004281.3(BAG3): c.821C> T (p.Ser274Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143919208 GRCh38 Chromosome 10, 119672568: 119672568
36 BAG3 NM_004281.3(BAG3): c.870C> G (p.Pro290=) single nucleotide variant Benign/Likely benign rs140737221 GRCh37 Chromosome 10, 121432129: 121432129
37 BAG3 NM_004281.3(BAG3): c.870C> G (p.Pro290=) single nucleotide variant Benign/Likely benign rs140737221 GRCh38 Chromosome 10, 119672617: 119672617
38 BAG3 NM_004281.3(BAG3): c.181-9T> A single nucleotide variant Benign rs139232658 GRCh37 Chromosome 10, 121429354: 121429354
39 BAG3 NM_004281.3(BAG3): c.181-9T> A single nucleotide variant Benign rs139232658 GRCh38 Chromosome 10, 119669842: 119669842
40 BAG3 NM_004281.3(BAG3): c.549C> G (p.Ser183=) single nucleotide variant Benign/Likely benign rs112929734 GRCh37 Chromosome 10, 121431808: 121431808
41 BAG3 NM_004281.3(BAG3): c.549C> G (p.Ser183=) single nucleotide variant Benign/Likely benign rs112929734 GRCh38 Chromosome 10, 119672296: 119672296
42 BAG3 NM_004281.3(BAG3): c.25A> G (p.Met9Val) single nucleotide variant Benign/Likely benign rs137965903 GRCh37 Chromosome 10, 121411212: 121411212
43 BAG3 NM_004281.3(BAG3): c.25A> G (p.Met9Val) single nucleotide variant Benign/Likely benign rs137965903 GRCh38 Chromosome 10, 119651700: 119651700
44 BAG3 NM_004281.3(BAG3): c.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh37 Chromosome 10, 121429412: 121429412
45 BAG3 NM_004281.3(BAG3): c.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh38 Chromosome 10, 119669900: 119669900
46 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh38 Chromosome 10, 119670137: 119670137
47 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh37 Chromosome 10, 121429649: 121429649
48 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh37 Chromosome 10, 121432030: 121432030
49 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh38 Chromosome 10, 119672518: 119672518
50 BAG3 NM_004281.3(BAG3): c.888C> T (p.His296=) single nucleotide variant Benign/Likely benign rs139399890 GRCh37 Chromosome 10, 121432147: 121432147

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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