CMD1HH
MCID: CRD159
MIFTS: 19

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

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.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh37 Chromosome 10, 121429412: 121429412
2 BAG3 NM_004281.3(BAG3): c.230C> T (p.Pro77Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141355480 GRCh38 Chromosome 10, 119669900: 119669900
3 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh38 Chromosome 10, 119670137: 119670137
4 BAG3 NM_004281.3(BAG3): c.467C> G (p.Ala156Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs572038196 GRCh37 Chromosome 10, 121429649: 121429649
5 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh37 Chromosome 10, 121432030: 121432030
6 BAG3 NM_004281.3(BAG3): c.771C> T (p.Pro257=) single nucleotide variant Likely benign rs200212999 GRCh38 Chromosome 10, 119672518: 119672518
7 BAG3 NM_004281.3(BAG3): c.888C> T (p.His296=) single nucleotide variant Benign/Likely benign rs139399890 GRCh37 Chromosome 10, 121432147: 121432147
8 BAG3 NM_004281.3(BAG3): c.888C> T (p.His296=) single nucleotide variant Benign/Likely benign rs139399890 GRCh38 Chromosome 10, 119672635: 119672635
9 BAG3 NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs) deletion Likely pathogenic rs727505109 GRCh38 Chromosome 10, 119676621: 119676621
10 BAG3 NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs) deletion Likely pathogenic rs727505109 GRCh37 Chromosome 10, 121436133: 121436133
11 BAG3 NM_004281.3(BAG3): c.1588G> A (p.Val530Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144678100 GRCh37 Chromosome 10, 121436654: 121436654
12 BAG3 NM_004281.3(BAG3): c.1588G> A (p.Val530Met) single nucleotide variant Conflicting interpretations of pathogenicity rs144678100 GRCh38 Chromosome 10, 119677142: 119677142
13 BAG3 NM_004281.3(BAG3): c.187C> G (p.Pro63Ala) single nucleotide variant Benign rs144041999 GRCh37 Chromosome 10, 121429369: 121429369
14 BAG3 NM_004281.3(BAG3): c.187C> G (p.Pro63Ala) single nucleotide variant Benign rs144041999 GRCh38 Chromosome 10, 119669857: 119669857
15 BAG3 NM_004281.3(BAG3): c.280A> T (p.Ile94Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145393807 GRCh38 Chromosome 10, 119669950: 119669950
16 BAG3 NM_004281.3(BAG3): c.280A> T (p.Ile94Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145393807 GRCh37 Chromosome 10, 121429462: 121429462
17 BAG3 NM_004281.3(BAG3): c.400T> A (p.Ser134Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs375257731 GRCh37 Chromosome 10, 121429582: 121429582
18 BAG3 NM_004281.3(BAG3): c.400T> A (p.Ser134Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs375257731 GRCh38 Chromosome 10, 119670070: 119670070
19 BAG3 NM_004281.3(BAG3): c.471G> A (p.Ala157=) single nucleotide variant Likely benign rs148985314 GRCh37 Chromosome 10, 121429653: 121429653
20 BAG3 NM_004281.3(BAG3): c.471G> A (p.Ala157=) single nucleotide variant Likely benign rs148985314 GRCh38 Chromosome 10, 119670141: 119670141
21 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh38 Chromosome 10, 119672400: 119672400
22 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh37 Chromosome 10, 121431912: 121431912
23 BAG3 NM_004281.3(BAG3): c.1138C> T (p.Pro380Ser) single nucleotide variant Benign/Likely benign rs144692954 GRCh37 Chromosome 10, 121436204: 121436204
24 BAG3 NM_004281.3(BAG3): c.1138C> T (p.Pro380Ser) single nucleotide variant Benign/Likely benign rs144692954 GRCh38 Chromosome 10, 119676692: 119676692
25 BAG3 NM_004281.3(BAG3): c.1240G> A (p.Glu414Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117749531 GRCh37 Chromosome 10, 121436306: 121436306
26 BAG3 NM_004281.3(BAG3): c.1240G> A (p.Glu414Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117749531 GRCh38 Chromosome 10, 119676794: 119676794
27 BAG3 NM_004281.3(BAG3): c.1587C> T (p.Ala529=) single nucleotide variant Benign/Likely benign rs149358702 GRCh38 Chromosome 10, 119677141: 119677141
28 BAG3 NM_004281.3(BAG3): c.1587C> T (p.Ala529=) single nucleotide variant Benign/Likely benign rs149358702 GRCh37 Chromosome 10, 121436653: 121436653
29 BAG3 NM_004281.3(BAG3): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs730880054 GRCh38 Chromosome 10, 119672301: 119672301
30 BAG3 NM_004281.3(BAG3): c.554C> T (p.Ser185Leu) single nucleotide variant Uncertain significance rs730880054 GRCh37 Chromosome 10, 121431813: 121431813
31 BAG3 NM_004281.3(BAG3): c.1630G> C (p.Asp544His) single nucleotide variant Uncertain significance rs786205466 GRCh38 Chromosome 10, 119677184: 119677184
32 BAG3 NM_004281.3(BAG3): c.1630G> C (p.Asp544His) single nucleotide variant Uncertain significance rs786205466 GRCh37 Chromosome 10, 121436696: 121436696
33 BAG3 NM_004281.3(BAG3): c.508C> T (p.Arg170Trp) single nucleotide variant Uncertain significance rs200479768 GRCh38 Chromosome 10, 119672255: 119672255
34 BAG3 NM_004281.3(BAG3): c.508C> T (p.Arg170Trp) single nucleotide variant Uncertain significance rs200479768 GRCh37 Chromosome 10, 121431767: 121431767
35 BAG3 NM_004281.3(BAG3): c.1436C> T (p.Ala479Val) single nucleotide variant Likely benign rs34656239 GRCh38 Chromosome 10, 119676990: 119676990
36 BAG3 NM_004281.3(BAG3): c.1436C> T (p.Ala479Val) single nucleotide variant Likely benign rs34656239 GRCh37 Chromosome 10, 121436502: 121436502
37 BAG3 NM_004281.3(BAG3): c.487C> T (p.Pro163Ser) single nucleotide variant Uncertain significance rs746956979 GRCh37 Chromosome 10, 121429669: 121429669
38 BAG3 NM_004281.3(BAG3): c.487C> T (p.Pro163Ser) single nucleotide variant Uncertain significance rs746956979 GRCh38 Chromosome 10, 119670157: 119670157
39 BAG3 NM_004281.3(BAG3): c.892G> A (p.Val298Met) single nucleotide variant Uncertain significance rs150048651 GRCh37 Chromosome 10, 121432151: 121432151
40 BAG3 NM_004281.3(BAG3): c.892G> A (p.Val298Met) single nucleotide variant Uncertain significance rs150048651 GRCh38 Chromosome 10, 119672639: 119672639
41 BAG3 NM_004281.3(BAG3): c.743A> G (p.His248Arg) single nucleotide variant Uncertain significance rs369947845 GRCh38 Chromosome 10, 119672490: 119672490
42 BAG3 NM_004281.3(BAG3): c.743A> G (p.His248Arg) single nucleotide variant Uncertain significance rs369947845 GRCh37 Chromosome 10, 121432002: 121432002
43 BAG3 NM_004281.3(BAG3): c.855G> A (p.Thr285=) single nucleotide variant Conflicting interpretations of pathogenicity rs147259596 GRCh38 Chromosome 10, 119672602: 119672602
44 BAG3 NM_004281.3(BAG3): c.855G> A (p.Thr285=) single nucleotide variant Conflicting interpretations of pathogenicity rs147259596 GRCh37 Chromosome 10, 121432114: 121432114
45 BAG3 NM_004281.3(BAG3): c.898G> A (p.Asp300Asn) single nucleotide variant Benign/Likely benign rs78439745 GRCh38 Chromosome 10, 119672645: 119672645
46 BAG3 NM_004281.3(BAG3): c.898G> A (p.Asp300Asn) single nucleotide variant Benign/Likely benign rs78439745 GRCh37 Chromosome 10, 121432157: 121432157
47 BAG3 NM_004281.3(BAG3): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance rs376832654 GRCh38 Chromosome 10, 119676515: 119676515
48 BAG3 NM_004281.3(BAG3): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance rs376832654 GRCh37 Chromosome 10, 121436027: 121436027
49 BAG3 NM_004281.3(BAG3): c.1586C> G (p.Ala529Gly) single nucleotide variant Uncertain significance rs369690617 GRCh37 Chromosome 10, 121436652: 121436652
50 BAG3 NM_004281.3(BAG3): c.1586C> G (p.Ala529Gly) single nucleotide variant Uncertain significance rs369690617 GRCh38 Chromosome 10, 119677140: 119677140

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....