FDC
MCID: CRD233
MIFTS: 50

Cardiomyopathy, Dilated, 1b (FDC)

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
Cardiomyopathy, Dilated 1b 58 13
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
Cmpd1 58
Cmd1b 58
Fdc 58

Characteristics:

OMIM:

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


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 cardiomyopathy, dilated 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, testes and eye, and related phenotypes are dilated cardiomyopathy and impaired myocardial contractility

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 38)
# 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 perrault syndrome 1 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 adult t-cell leukemia 10.0
16 leukemia 10.0
17 scrapie 10.0
18 t-cell leukemia 10.0
19 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 LMNA TTN
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 LMNA TTN
21 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 LMNA TTN
22 neuromuscular disease 9.9 LMNA TTN
23 myopathy, spheroid body 9.8 BAG3 TTN
24 sick sinus syndrome 9.8 LMNA MYH6 TTN
25 cardiomyopathy, familial hypertrophic, 4 9.8 MYBPC3 TTN
26 cardiomyopathy, dilated, 1e 9.7 LMNA RBM20 TTN
27 cardiac conduction defect 9.7 LMNA MYBPC3
28 myofibrillar myopathy 9.7 BAG3 LMNA TTN
29 arrhythmogenic right ventricular cardiomyopathy 9.7 LMNA RBM20 TTN
30 cardiomyopathy, familial hypertrophic, 1 9.6 MYBPC3 MYH6 TTN
31 restrictive cardiomyopathy 9.5 MYBPC3 TTN
32 muscular disease 9.5 BAG3 LMNA MYH6 TTN
33 atrial standstill 1 9.4 LMNA MYBPC3 MYH6 TTN
34 hypertrophic cardiomyopathy 9.3 LMNA MYBPC3 MYH6 TTN
35 heart disease 9.3 LMNA MYBPC3 MYH6 TTN
36 intrinsic cardiomyopathy 9.1 LMNA MYBPC3 MYH6 RBM20 TTN
37 familial isolated dilated cardiomyopathy 9.0 BAG3 MYBPC3 MYH6 RBM20 TTN
38 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 dilated cardiomyopathy 33 HP:0001644
2 impaired myocardial contractility 33 HP:0006670
3 ventricular arrhythmia 33 HP:0004308
4 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
protease inhibitors Phase 3
4 Angiotensin-Converting Enzyme 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, Testes, Eye, Thyroid

Publications for Cardiomyopathy, Dilated, 1b

Articles related to Cardiomyopathy, Dilated, 1b:

(show top 50) (show all 159)
# Title Authors Year
1
Contemporary characteristics and outcomes of adults with familial dilated cardiomyopathy listed for heart transplantation. ( 30705741 )
2019
2
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. ( 30715562 )
2019
3
Differential Expression of Circulating miRNAs as a Novel Tool to Assess BAG3-Associated Familial Dilated Cardiomyopathy. ( 30792263 )
2019
4
Next-generation sequencing identifies a homozygous mutation in ACDAVL associated with pediatric familial dilated cardiomyopathy. ( 30840296 )
2019
5
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. ( 29961767 )
2018
6
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 29445930 )
2018
7
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. ( 29551499 )
2018
8
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ( 29109008 )
2018
9
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management. ( 30482687 )
2018
10
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report. ( 29871609 )
2018
11
HAND2 loss-of-function mutation causes familial dilated cardiomyopathy. ( 30217752 )
2018
12
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ( 30221713 )
2018
13
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. ( 28902616 )
2017
14
Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ( 28088328 )
2017
15
CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 28099117 )
2017
16
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. ( 28816949 )
2017
17
Identification of MYLK3 mutations in familial dilated cardiomyopathy. ( 29235529 )
2017
18
Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy. ( 28401079 )
2017
19
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy. ( 28600229 )
2017
20
Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy. ( 28655534 )
2017
21
Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers. ( 27889554 )
2017
22
Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. ( 28193717 )
2017
23
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. ( 27235420 )
2016
24
GSK3I^ heterozygous knockout is cardioprotective in a knock-in mouse model of familial dilated cardiomyopathy. ( 27106044 )
2016
25
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. ( 27391596 )
2016
26
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. ( 27105042 )
2016
27
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. ( 26604136 )
2016
28
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26581070 )
2016
29
Genetic Variations Leading to Familial Dilated Cardiomyopathy. ( 27802374 )
2016
30
Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing. ( 26852066 )
2016
31
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy. ( 26884609 )
2016
32
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. ( 26899768 )
2016
33
Cardiomyopathies: In vitro genetic correction of familial dilated cardiomyopathy. ( 27489187 )
2016
34
Dkk3 prevents familial dilated cardiomyopathy development through Wnt pathway. ( 26641069 )
2016
35
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. ( 25503402 )
2015
36
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 25725155 )
2015
37
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26118961 )
2015
38
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. ( 25543888 )
2015
39
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. ( 25825243 )
2015
40
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. ( 26498512 )
2015
41
A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. ( 25498755 )
2015
42
Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. ( 27547593 )
2015
43
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. ( 24366163 )
2014
44
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. ( 25119427 )
2014
45
Prognostic implications of the systolic to diastolic duration ratio in children with idiopathic or familial dilated cardiomyopathy. ( 25140066 )
2014
46
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. ( 24162388 )
2013
47
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. ( 23539503 )
2013
48
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. ( 23861363 )
2013
49
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ( 24205113 )
2013
50
Return of genetic results in the familial dilated cardiomyopathy research project. ( 22886719 )
2013

Variations for Cardiomyopathy, Dilated, 1b

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

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.754G> A (p.Glu252Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504488 GRCh37 Chromosome 1, 201330433: 201330433
2 TNNT2 NM_001001430.2(TNNT2): c.754G> A (p.Glu252Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs727504488 GRCh38 Chromosome 1, 201361305: 201361305
3 TTN NM_001256850.1(TTN): c.48730G> T (p.Glu16244Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503607 GRCh37 Chromosome 2, 179470369: 179470369
4 TTN NM_001256850.1(TTN): c.48730G> T (p.Glu16244Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503607 GRCh38 Chromosome 2, 178605642: 178605642
5 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh37 Chromosome 10, 88446851: 88446851
6 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh38 Chromosome 10, 86687094: 86687094
7 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh37 Chromosome 10, 112572062: 112572062
8 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh38 Chromosome 10, 110812304: 110812304
9 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
10 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
11 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
12 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
13 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh37 Chromosome 10, 69959320: 69959320
14 MYPN NM_032578.3(MYPN): c.3481C> A (p.Leu1161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138313730 GRCh38 Chromosome 10, 68199563: 68199563
15 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh37 Chromosome 3, 12660099: 12660099
16 RAF1 NM_002880.3(RAF1): c.122G> A (p.Arg41Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145611571 GRCh38 Chromosome 3, 12618600: 12618600
17 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh37 Chromosome 11, 47359046: 47359046
18 MYBPC3 NM_000256.3(MYBPC3): c.2498C> T (p.Ala833Val) single nucleotide variant Benign/Likely benign rs3729952 GRCh38 Chromosome 11, 47337495: 47337495
19 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh37 Chromosome 11, 47371634: 47371634
20 MYBPC3 NM_000256.3(MYBPC3): c.436A> C (p.Thr146Pro) single nucleotide variant Uncertain significance rs397516048 GRCh38 Chromosome 11, 47350083: 47350083
21 MYH7 NM_000257.4(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh37 Chromosome 14, 23889202: 23889202
22 MYH7 NM_000257.4(MYH7): c.3578G> A (p.Arg1193His) single nucleotide variant Uncertain significance rs397516187 GRCh38 Chromosome 14, 23419993: 23419993
23 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh37 Chromosome 10, 112540911: 112540911
24 RBM20 NM_001134363.2(RBM20): c.544C> A (p.Pro182Thr) single nucleotide variant Uncertain significance rs397516622 GRCh38 Chromosome 10, 110781153: 110781153
25 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh37 Chromosome 18, 29078258: 29078258
26 DSG2 NM_001943.4(DSG2): c.44T> A (p.Leu15Gln) single nucleotide variant Uncertain significance rs372174546 GRCh38 Chromosome 18, 31498295: 31498295
27 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
28 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
29 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 GRCh37 Chromosome 14, 23872631: 23872631
30 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 GRCh38 Chromosome 14, 23403422: 23403422
31 MYH6 NM_002471.3(MYH6): c.824T> A (p.Ile275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201327273 NCBI36 Chromosome 14, 22942471: 22942471
32 DSP NM_004415.3(DSP): c.5744G> A (p.Arg1915His) single nucleotide variant Uncertain significance rs146617683 GRCh37 Chromosome 6, 7583239: 7583239
33 DSP NM_004415.3(DSP): c.5744G> A (p.Arg1915His) single nucleotide variant Uncertain significance rs146617683 GRCh38 Chromosome 6, 7583006: 7583006
34 LDB3 NM_001080114.1(LDB3): c.1205A> C (p.Gln402Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138951890 GRCh37 Chromosome 10, 88476387: 88476387
35 LDB3 NM_001080114.1(LDB3): c.1205A> C (p.Gln402Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138951890 GRCh38 Chromosome 10, 86716630: 86716630
36 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh37 Chromosome 10, 75855425: 75855425
37 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh38 Chromosome 10, 74095667: 74095667
38 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh37 Chromosome 2, 179439257: 179439257
39 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh38 Chromosome 2, 178574530: 178574530
40 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh37 Chromosome 1, 156106048: 156106048
41 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh38 Chromosome 1, 156136257: 156136257
42 LMNA NM_170707.3(LMNA): c.1494G> T (p.Trp498Cys) single nucleotide variant Likely pathogenic rs57730570 GRCh37 Chromosome 1, 156106909: 156106909
43 LMNA NM_170707.3(LMNA): c.1494G> T (p.Trp498Cys) single nucleotide variant Likely pathogenic rs57730570 GRCh38 Chromosome 1, 156137118: 156137118
44 LMNA NM_170707.3(LMNA): c.274C> T (p.Leu92Phe) single nucleotide variant Likely pathogenic rs267607560 GRCh37 Chromosome 1, 156084983: 156084983
45 LMNA NM_170707.3(LMNA): c.274C> T (p.Leu92Phe) single nucleotide variant Likely pathogenic rs267607560 GRCh38 Chromosome 1, 156115192: 156115192
46 DSP NM_004415.3(DSP): c.877G> A (p.Glu293Lys) single nucleotide variant Uncertain significance rs876657799 GRCh38 Chromosome 6, 7565458: 7565458
47 DSP NM_004415.3(DSP): c.877G> A (p.Glu293Lys) single nucleotide variant Uncertain significance rs876657799 GRCh37 Chromosome 6, 7565691: 7565691
48 BAG3 NM_004281.3(BAG3): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs869248137 GRCh37 Chromosome 10, 121435991: 121435991
49 BAG3 NM_004281.3(BAG3): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs869248137 GRCh38 Chromosome 10, 119676479: 119676479
50 BAG3 NM_004281.3(BAG3): c.1118G> A (p.Cys373Tyr) single nucleotide variant Uncertain significance rs876657745 GRCh38 Chromosome 10, 119676672: 119676672

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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