MCID: CRD159
MIFTS: 19

Cardiomyopathy, Dilated, 1hh

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1hh

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1hh:

Name: Cardiomyopathy, Dilated, 1hh 57 13 73
Dilated Cardiomyopathy 1hh 12 29 6
Cmd1hh 57 12 75
Cardiomyopathy, Dilated, Type 1hh 40
Cardiomyopathy, Dilated 1hh 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, 1hh:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613881
Disease Ontology 12 DOID:0110448
ICD10 33 I42.0
MedGen 42 C3151293
MeSH 44 D002311
UMLS 73 C3151293

Summaries for Cardiomyopathy, Dilated, 1hh

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
dilated left ventricle
heart failure


Clinical features from OMIM:

613881

Human phenotypes related to Cardiomyopathy, Dilated, 1hh:

32
# 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:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1hh 29 BAG3

Anatomical Context for Cardiomyopathy, Dilated, 1hh

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1hh

Variations for Cardiomyopathy, Dilated, 1hh

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

75
# 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 226)
# 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.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387906875 GRCh37 Chromosome 10, 121429549: 121429549
5 BAG3 NM_004281.3(BAG3): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic/Likely pathogenic rs387906875 GRCh38 Chromosome 10, 119670037: 119670037
6 BAG3 BAG3, 1-BP DEL, 652C deletion Pathogenic
7 BAG3 NM_004281.3(BAG3): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs387906876 GRCh37 Chromosome 10, 121436496: 121436496
8 BAG3 NM_004281.3(BAG3): c.1430G> A (p.Arg477His) single nucleotide variant Pathogenic rs387906876 GRCh38 Chromosome 10, 119676984: 119676984
9 BAG3 NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro) single nucleotide variant Likely pathogenic rs397514507 GRCh37 Chromosome 10, 121436451: 121436451
10 BAG3 NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro) single nucleotide variant Likely pathogenic rs397514507 GRCh38 Chromosome 10, 119676939: 119676939
11 BAG3 NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516881 GRCh37 Chromosome 10, 121436429: 121436429
12 BAG3 NM_004281.3(BAG3): c.1363G> A (p.Glu455Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516881 GRCh38 Chromosome 10, 119676917: 119676917
13 BAG3 NM_004281.3(BAG3): c.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh37 Chromosome 10, 121429412: 121429412
14 BAG3 NM_004281.3(BAG3): c.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh38 Chromosome 10, 119669900: 119669900
15 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh37 Chromosome 10, 121429649: 121429649
16 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh38 Chromosome 10, 119670137: 119670137
17 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh37 Chromosome 10, 121432030: 121432030
18 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh38 Chromosome 10, 119672518: 119672518
19 BAG3 NM_004281.3(BAG3): c.888C> T (p.His296=) single nucleotide variant Benign/Likely benign rs139399890 GRCh37 Chromosome 10, 121432147: 121432147
20 BAG3 NM_004281.3(BAG3): c.888C> T (p.His296=) single nucleotide variant Benign/Likely benign rs139399890 GRCh38 Chromosome 10, 119672635: 119672635
21 BAG3 NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs) deletion Likely pathogenic rs727505109 GRCh37 Chromosome 10, 121436133: 121436133
22 BAG3 NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs) deletion Likely pathogenic rs727505109 GRCh38 Chromosome 10, 119676621: 119676621
23 BAG3 NM_004281.3(BAG3): c.1588G> A (p.Val530Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144678100 GRCh37 Chromosome 10, 121436654: 121436654
24 BAG3 NM_004281.3(BAG3): c.1588G> A (p.Val530Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144678100 GRCh38 Chromosome 10, 119677142: 119677142
25 BAG3 NM_004281.3(BAG3): c.187C> G (p.Pro63Ala) single nucleotide variant Benign rs144041999 GRCh37 Chromosome 10, 121429369: 121429369
26 BAG3 NM_004281.3(BAG3): c.187C> G (p.Pro63Ala) single nucleotide variant Benign rs144041999 GRCh38 Chromosome 10, 119669857: 119669857
27 BAG3 NM_004281.3(BAG3): c.280A> T (p.Ile94Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145393807 GRCh37 Chromosome 10, 121429462: 121429462
28 BAG3 NM_004281.3(BAG3): c.280A> T (p.Ile94Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145393807 GRCh38 Chromosome 10, 119669950: 119669950
29 BAG3 NM_004281.3(BAG3): c.400T> A (p.Ser134Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs375257731 GRCh37 Chromosome 10, 121429582: 121429582
30 BAG3 NM_004281.3(BAG3): c.400T> A (p.Ser134Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs375257731 GRCh38 Chromosome 10, 119670070: 119670070
31 BAG3 NM_004281.3(BAG3): c.471G> A (p.Ala157=) single nucleotide variant Likely benign rs148985314 GRCh37 Chromosome 10, 121429653: 121429653
32 BAG3 NM_004281.3(BAG3): c.471G> A (p.Ala157=) single nucleotide variant Likely benign rs148985314 GRCh38 Chromosome 10, 119670141: 119670141
33 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh37 Chromosome 10, 121431912: 121431912
34 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh38 Chromosome 10, 119672400: 119672400
35 BAG3 NM_004281.3(BAG3): c.1138C> T (p.Pro380Ser) single nucleotide variant Benign/Likely benign rs144692954 GRCh37 Chromosome 10, 121436204: 121436204
36 BAG3 NM_004281.3(BAG3): c.1138C> T (p.Pro380Ser) single nucleotide variant Benign/Likely benign rs144692954 GRCh38 Chromosome 10, 119676692: 119676692
37 BAG3 NM_004281.3(BAG3): c.1240G> A (p.Glu414Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117749531 GRCh37 Chromosome 10, 121436306: 121436306
38 BAG3 NM_004281.3(BAG3): c.1240G> A (p.Glu414Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117749531 GRCh38 Chromosome 10, 119676794: 119676794
39 BAG3 NM_004281.3(BAG3): c.1587C> T (p.Ala529=) single nucleotide variant Benign/Likely benign rs149358702 GRCh37 Chromosome 10, 121436653: 121436653
40 BAG3 NM_004281.3(BAG3): c.1587C> T (p.Ala529=) single nucleotide variant Benign/Likely benign rs149358702 GRCh38 Chromosome 10, 119677141: 119677141
41 BAG3 NM_004281.3(BAG3): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs730880054 GRCh38 Chromosome 10, 119672301: 119672301
42 BAG3 NM_004281.3(BAG3): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs730880054 GRCh37 Chromosome 10, 121431813: 121431813
43 BAG3 NM_004281.3(BAG3): c.1630G> C (p.Asp544His) single nucleotide variant Uncertain significance rs786205466 GRCh38 Chromosome 10, 119677184: 119677184
44 BAG3 NM_004281.3(BAG3): c.1630G> C (p.Asp544His) single nucleotide variant Uncertain significance rs786205466 GRCh37 Chromosome 10, 121436696: 121436696
45 BAG3 NM_004281.3(BAG3): c.508C> T (p.Arg170Trp) single nucleotide variant Uncertain significance rs200479768 GRCh38 Chromosome 10, 119672255: 119672255
46 BAG3 NM_004281.3(BAG3): c.508C> T (p.Arg170Trp) single nucleotide variant Uncertain significance rs200479768 GRCh37 Chromosome 10, 121431767: 121431767
47 BAG3 NM_004281.3(BAG3): c.1436C> T (p.Ala479Val) single nucleotide variant Likely benign rs34656239 GRCh38 Chromosome 10, 119676990: 119676990
48 BAG3 NM_004281.3(BAG3): c.1436C> T (p.Ala479Val) single nucleotide variant Likely benign rs34656239 GRCh37 Chromosome 10, 121436502: 121436502
49 BAG3 NM_004281.3(BAG3): c.487C> T (p.Pro163Ser) single nucleotide variant Uncertain significance rs746956979 GRCh37 Chromosome 10, 121429669: 121429669
50 BAG3 NM_004281.3(BAG3): c.487C> T (p.Pro163Ser) single nucleotide variant Uncertain significance rs746956979 GRCh38 Chromosome 10, 119670157: 119670157

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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