CMD1B
MCID: CRD233
MIFTS: 44

Cardiomyopathy, Dilated, 1b (CMD1B)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1b:

Name: Cardiomyopathy, Dilated, 1b 58
Dilated Cardiomyopathy 1b 12 30
Cardiomyopathy, Familial Dilated, 1; Cmpd1 58
Cardiomyopathy, Familial Dilated; Fdc 58
Cardiomyopathy, Familial Dilated, 1 58
Cardiomyopathy, Familial Dilated 58
Familial Dilated Cardiomyopathy 74
Cardiomyopathy, Dilated 1b 58
Cmpd1 58
Cmd1b 58
Fdc 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant with age-related penetrance (9q13-q22)


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110443
OMIM 58 600884
ICD10 34 I42.0
MedGen 43 C0340427
UMLS 74 C0340427

Summaries for Cardiomyopathy, Dilated, 1b

Genetics Home Reference : 26 Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.

MalaCards based summary : Cardiomyopathy, Dilated, 1b, also known as dilated cardiomyopathy 1b, is related to campomelic dysplasia and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1b is MYH6 (Myosin Heavy Chain 6), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). The drugs Perindopril and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, t cells and eye, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.

Description from OMIM: 600884

Related Diseases for Cardiomyopathy, Dilated, 1b

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 30.7 BAG3 LMNA MYBPC3 MYH6 RBM20 TTN
2 dilated cardiomyopathy 30.3 BAG3 LMNA MYBPC3 MYH6 RBM20 TTN
3 muscular dystrophy, congenital, lmna-related 29.9 LMNA TTN
4 follicular dendritic cell sarcoma 11.5
5 muscular dystrophy, congenital, 1b 11.3
6 cone-rod dystrophy and hearing loss 2 11.1
7 angioimmunoblastic lymphadenopathy with dysproteinemia 11.1
8 angioimmunoblastic t-cell lymphoma 11.1
9 lymphoma 10.2
10 gastric cancer 10.1
11 muscular dystrophy 10.1
12 congenital muscular dystrophy type 1a 10.1
13 fish-eye disease 10.0
14 lymphoma, mucosa-associated lymphoid type 10.0
15 pityriasis rubra pilaris 10.0
16 adult t-cell leukemia 10.0
17 leukemia 10.0
18 foodborne botulism 10.0
19 scrapie 10.0
20 t-cell leukemia 10.0
21 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 LMNA TTN
22 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 LMNA TTN
23 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 LMNA TTN
24 neuromuscular disease 9.9 LMNA TTN
25 myopathy, spheroid body 9.8 BAG3 TTN
26 sick sinus syndrome 9.8 LMNA MYH6 TTN
27 cardiomyopathy, familial hypertrophic, 4 9.8 MYBPC3 TTN
28 cardiomyopathy, dilated, 1e 9.7 LMNA RBM20 TTN
29 cardiac conduction defect 9.7 LMNA MYBPC3
30 myofibrillar myopathy 9.7 BAG3 LMNA TTN
31 arrhythmogenic right ventricular cardiomyopathy 9.7 LMNA RBM20 TTN
32 cardiomyopathy, familial hypertrophic, 1 9.6 MYBPC3 MYH6 TTN
33 restrictive cardiomyopathy 9.5 MYBPC3 TTN
34 muscular disease 9.5 BAG3 LMNA MYH6 TTN
35 atrial standstill 1 9.4 LMNA MYBPC3 MYH6 TTN
36 hypertrophic cardiomyopathy 9.4 LMNA MYBPC3 MYH6 TTN
37 heart disease 9.3 LMNA MYBPC3 MYH6 TTN
38 intrinsic cardiomyopathy 9.1 LMNA MYBPC3 MYH6 RBM20 TTN
39 familial isolated dilated cardiomyopathy 9.0 BAG3 MYBPC3 MYH6 RBM20 TTN
40 left ventricular noncompaction 9.0 BAG3 LMNA MYBPC3 MYH6 TTN

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1b:



Diseases related to Cardiomyopathy, Dilated, 1b

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1b

Human phenotypes related to Cardiomyopathy, Dilated, 1b:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 impaired myocardial contractility 33 HP:0006670
4 ventricular arrhythmia 33 HP:0004308
5 dilatation 33 HP:0002617

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
congestive heart failure
dilated cardiomyopathy
impaired myocardial contractility
ventricular arrhythmia
left ventricular or biventricular dilatation

Misc:
onset usually in second or third decade

Clinical features from OMIM:

600884

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1b:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 BAG3 LMNA MYBPC3 MYH6 RBM20 TTN
2 homeostasis/metabolism MP:0005376 9.43 BAG3 LMNA MYBPC3 MYH6 RBM20 TTN
3 muscle MP:0005369 9.1 BAG3 LMNA MYBPC3 MYH6 RBM20 TTN

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1b

Drugs for Cardiomyopathy, Dilated, 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 3 107133-36-8, 82834-16-0 107807
2 HIV Protease Inhibitors Phase 3
3 Angiotensin-Converting Enzyme Inhibitors Phase 3
4
protease inhibitors Phase 3
5 Antihypertensive Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors Terminated NCT01583114 Phase 3 perindopril;placebo
2 Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a Completed NCT03090425
3 Mayo AVC Registry and Biobank Recruiting NCT03049254

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1b

Genetic Tests for Cardiomyopathy, Dilated, 1b

Genetic tests related to Cardiomyopathy, Dilated, 1b:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1b 30

Anatomical Context for Cardiomyopathy, Dilated, 1b

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

42
Heart, T Cells, Eye, Testes, Thyroid

Publications for Cardiomyopathy, Dilated, 1b

Articles related to Cardiomyopathy, Dilated, 1b:

# Title Authors Year
1
Cardiomyopathy, familial dilated. ( 16839424 )
2006

Variations for Cardiomyopathy, Dilated, 1b

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

6 (show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh37 Chromosome 10, 112572062: 112572062
2 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh38 Chromosome 10, 110812304: 110812304
3 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
4 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
5 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
6 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
7 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh37 Chromosome 10, 69959320: 69959320
8 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh38 Chromosome 10, 68199563: 68199563
9 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh37 Chromosome 3, 12660099: 12660099
10 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh38 Chromosome 3, 12618600: 12618600
11 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh37 Chromosome 11, 47359046: 47359046
12 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh38 Chromosome 11, 47337495: 47337495
13 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh37 Chromosome 11, 47371634: 47371634
14 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh38 Chromosome 11, 47350083: 47350083
15 MYH7 NM_000257.4(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh37 Chromosome 14, 23889202: 23889202
16 MYH7 NM_000257.4(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh38 Chromosome 14, 23419993: 23419993
17 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh37 Chromosome 10, 112540911: 112540911
18 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh38 Chromosome 10, 110781153: 110781153
19 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh37 Chromosome 18, 29078258: 29078258
20 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh38 Chromosome 18, 31498295: 31498295
21 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
22 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
23 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 GRCh37 Chromosome 14, 23872631: 23872631
24 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 GRCh38 Chromosome 14, 23403422: 23403422
25 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 NCBI36 Chromosome 14, 22942471: 22942471
26 DSP NM_004415.3(DSP): c.5744G> A (p.Arg1915His) single nucleotide variant Uncertain significance rs146617683 GRCh37 Chromosome 6, 7583239: 7583239
27 DSP NM_004415.3(DSP): c.5744G> A (p.Arg1915His) single nucleotide variant Uncertain significance rs146617683 GRCh38 Chromosome 6, 7583006: 7583006
28 LDB3 NM_001080114.1(LDB3): c.1205A> C (p.Gln402Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138951890 GRCh37 Chromosome 10, 88476387: 88476387
29 LDB3 NM_001080114.1(LDB3): c.1205A> C (p.Gln402Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138951890 GRCh38 Chromosome 10, 86716630: 86716630
30 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh37 Chromosome 10, 75855425: 75855425
31 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh38 Chromosome 10, 74095667: 74095667
32 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh37 Chromosome 2, 179439257: 179439257
33 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh38 Chromosome 2, 178574530: 178574530
34 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh37 Chromosome 1, 156106048: 156106048
35 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh38 Chromosome 1, 156136257: 156136257
36 LMNA NM_170707.3(LMNA): c.725C> T (p.Ala242Val) single nucleotide variant Likely pathogenic rs397517906 GRCh37 Chromosome 1, 156104681: 156104681
37 LMNA NM_170707.3(LMNA): c.725C> T (p.Ala242Val) single nucleotide variant Likely pathogenic rs397517906 GRCh38 Chromosome 1, 156134890: 156134890
38 LMNA NM_170707.3(LMNA): c.1494G> T (p.Trp498Cys) single nucleotide variant Likely pathogenic rs57730570 GRCh37 Chromosome 1, 156106909: 156106909
39 LMNA NM_170707.3(LMNA): c.1494G> T (p.Trp498Cys) single nucleotide variant Likely pathogenic rs57730570 GRCh38 Chromosome 1, 156137118: 156137118
40 LMNA NM_170707.3(LMNA): c.274C> T (p.Leu92Phe) single nucleotide variant Likely pathogenic rs267607560 GRCh37 Chromosome 1, 156084983: 156084983
41 LMNA NM_170707.3(LMNA): c.274C> T (p.Leu92Phe) single nucleotide variant Likely pathogenic rs267607560 GRCh38 Chromosome 1, 156115192: 156115192
42 TNNT2 NM_001001430.2(TNNT2): c.754G> A (p.Glu252Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504488 GRCh38 Chromosome 1, 201361305: 201361305
43 TNNT2 NM_001001430.2(TNNT2): c.754G> A (p.Glu252Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504488 GRCh37 Chromosome 1, 201330433: 201330433
44 TTN NM_001256850.1(TTN): c.48730G> T (p.Glu16244Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503607 GRCh37 Chromosome 2, 179470369: 179470369
45 TTN NM_001256850.1(TTN): c.48730G> T (p.Glu16244Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503607 GRCh38 Chromosome 2, 178605642: 178605642
46 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh37 Chromosome 10, 88446851: 88446851
47 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh38 Chromosome 10, 86687094: 86687094
48 DSP NM_004415.3(DSP): c.877G> A (p.Glu293Lys) single nucleotide variant Uncertain significance rs876657799 GRCh38 Chromosome 6, 7565458: 7565458
49 DSP NM_004415.3(DSP): c.877G> A (p.Glu293Lys) single nucleotide variant Uncertain significance rs876657799 GRCh37 Chromosome 6, 7565691: 7565691
50 BAG3 NM_004281.3(BAG3): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs869248137 GRCh37 Chromosome 10, 121435991: 121435991

Expression for Cardiomyopathy, Dilated, 1b

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1b.

Pathways for Cardiomyopathy, Dilated, 1b

GO Terms for Cardiomyopathy, Dilated, 1b

Cellular components related to Cardiomyopathy, Dilated, 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 M band GO:0031430 9.32 MYBPC3 TTN
2 striated muscle thin filament GO:0005865 9.26 MYBPC3 TTN
3 myosin filament GO:0032982 9.16 MYBPC3 MYH6
4 sarcomere GO:0030017 9.13 MYBPC3 MYH6 TTN
5 Z disc GO:0030018 8.92 BAG3 MYBPC3 MYH6 TTN

Biological processes related to Cardiomyopathy, Dilated, 1b according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.51 BAG3 TTN
2 muscle contraction GO:0006936 9.5 MYBPC3 MYH6 TTN
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 MYBPC3 MYH6
4 cardiac muscle tissue morphogenesis GO:0055008 9.48 MYBPC3 TTN
5 cardiac myofibril assembly GO:0055003 9.46 MYBPC3 TTN
6 striated muscle contraction GO:0006941 9.43 MYH6 TTN
7 cardiac muscle contraction GO:0060048 9.43 MYBPC3 MYH6 TTN
8 skeletal muscle thin filament assembly GO:0030240 9.4 MYBPC3 TTN
9 skeletal muscle myosin thick filament assembly GO:0030241 9.37 MYBPC3 TTN
10 sarcomere organization GO:0045214 9.33 MYBPC3 MYH6 TTN
11 muscle filament sliding GO:0030049 9.13 MYBPC3 MYH6 TTN
12 cardiac muscle fiber development GO:0048739 8.8 MYBPC3 MYH6 TTN

Molecular functions related to Cardiomyopathy, Dilated, 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 MYBPC3 TTN
2 actin filament binding GO:0051015 9.13 MYBPC3 MYH6 TTN
3 muscle alpha-actinin binding GO:0051371 8.62 MYBPC3 TTN

Sources for Cardiomyopathy, Dilated, 1b

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
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