MCID: CRD233
MIFTS: 50

Cardiomyopathy, Dilated, 1b

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1b:

Name: Cardiomyopathy, Dilated, 1b 57
Dilated Cardiomyopathy 1b 12 29 15
Cardiomyopathy, Dilated 1b 57 13
Cmd1b 57 12
Cardiomyopathy, Familial Dilated, 1; Cmpd1 57
Cardiomyopathy, Familial Dilated; Fdc 57
Cardiomyopathy, Familial Dilated, 1 57
Cardiomyopathy, Familial Dilated 57
Familial Dilated Cardiomyopathy 73
Cmpd1 57
Fdc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant with age-related penetrance (9q13-q22)


Classifications:



External Ids:

OMIM 57 600884
Disease Ontology 12 DOID:0110443
ICD10 33 I42.0
MedGen 42 C0340427
SNOMED-CT via HPO 69 195021004 399020009 44103008
UMLS 73 C0340427

Summaries for Cardiomyopathy, Dilated, 1b

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

MalaCards based summary : Cardiomyopathy, Dilated, 1b, also known as dilated cardiomyopathy 1b, is related to muscular dystrophy, congenital, lmna-related and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1b is CMD1B (Cardiomyopathy, Dilated 1B (Autosomal Dominant)), and among its related pathways/superpathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Perindopril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and thyroid, and related phenotypes are dilated cardiomyopathy and ventricular arrhythmia

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
Dmd-Related Dilated 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 30)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 29.2 DAG1 FKTN LAMA2
2 dilated cardiomyopathy 28.8 DAG1 DMD FKTN LAMA2 LDB3
3 muscular dystrophy, congenital, 1b 27.8 C1QBP DAG1 DMD FKTN LAMA2 LDB3
4 muscular dystrophy 27.7 DAG1 DMD FKTN LAMA2
5 campomelic dysplasia 11.6
6 follicular dendritic cell sarcoma 11.3
7 congenital muscular dystrophy type 1a 9.9
8 isolated hyperckemia 9.8 DMD LAMA2
9 creatine phosphokinase, elevated serum 9.8 DMD LAMA2
10 myopathy, x-linked, with excessive autophagy 9.7 DMD LAMA2
11 rigid spine muscular dystrophy 1 9.6 DMD LAMA2
12 malignant hyperthermia 9.6 DMD LAMA2
13 myopathy, myofibrillar, 2 9.6 DMD LDB3
14 muscular dystrophy, limb-girdle, type 2c 9.5 DAG1 DMD
15 myofibrillar myopathy 9.5 DMD LDB3
16 neuromuscular disease 9.5 DMD LAMA2
17 muscular dystrophy, becker type 9.3 DMD FKTN LAMA2
18 lissencephaly 9.3 DAG1 FKTN
19 familial isolated dilated cardiomyopathy 9.2 DMD FKTN LDB3
20 myocarditis 9.1 DAG1 DMD
21 muscular dystrophy, congenital merosin-deficient, 1a 8.6 DAG1 DMD FKTN LAMA2
22 muscular dystrophy-dystroglycanopathy , type b, 6 8.6 DAG1 DMD FKTN LAMA2
23 muscular dystrophy-dystroglycanopathy , type a, 4 8.6 DAG1 DMD FKTN LAMA2
24 muscular dystrophy-dystroglycanopathy , type b, 5 8.6 DAG1 DMD FKTN LAMA2
25 muscle eye brain disease 8.6 DAG1 DMD FKTN LAMA2
26 muscle tissue disease 8.6 DAG1 DMD FKTN LAMA2
27 walker-warburg syndrome 8.6 DAG1 DMD FKTN LAMA2
28 cardiomyopathy, dilated, 1d 8.6 DAG1 DMD LAMA2 LDB3
29 cardiomyopathy, dilated, 1a 8.5 DAG1 DMD LAMA2 LDB3
30 myopathy 8.4 DAG1 DMD LAMA2 LDB3

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



Diseases related to Cardiomyopathy, Dilated, 1b

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1b

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
dilated cardiomyopathy
impaired myocardial contractility
left ventricular or biventricular dilatation
congestive heart failure
ventricular arrhythmia

Misc:
onset usually in second or third decade


Clinical features from OMIM:

600884

Human phenotypes related to Cardiomyopathy, Dilated, 1b:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 ventricular arrhythmia 32 HP:0004308
3 impaired myocardial contractility 32 HP:0006670

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1b according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 9.02 C1QBP DAG1 FKTN LAMA2 LDB3

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 C1QBP DAG1 DMD FKTN LAMA2 LDB3
2 mortality/aging MP:0010768 9.43 C1QBP DAG1 DMD FKTN LAMA2 LDB3
3 muscle MP:0005369 9.02 DAG1 DMD FKTN LAMA2 LDB3

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 Angiotensin-Converting Enzyme Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4 HIV Protease Inhibitors Phase 3
5
protease inhibitors 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 Active, not recruiting NCT03090425
3 Mayo AVC Registry and BioBank Enrolling by invitation 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 29

Anatomical Context for Cardiomyopathy, Dilated, 1b

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

41
Heart, Testes, Thyroid, Eye

Publications for Cardiomyopathy, Dilated, 1b

Articles related to Cardiomyopathy, Dilated, 1b:

(show top 50) (show all 136)
# Title Authors Year
1
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. ( 29961767 )
2018
2
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 29445930 )
2018
3
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. ( 29551499 )
2018
4
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ( 29109008 )
2018
5
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. ( 28902616 )
2017
6
Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ( 28088328 )
2017
7
CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 28099117 )
2017
8
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. ( 28816949 )
2017
9
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. ( 27235420 )
2016
10
GSK3I^ heterozygous knockout is cardioprotective in a knock-in mouse model of familial dilated cardiomyopathy. ( 27106044 )
2016
11
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. ( 27391596 )
2016
12
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. ( 27105042 )
2016
13
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. ( 26604136 )
2016
14
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26581070 )
2016
15
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. ( 25503402 )
2015
16
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 25725155 )
2015
17
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26118961 )
2015
18
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. ( 25543888 )
2015
19
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. ( 25825243 )
2015
20
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
21
A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. ( 25498755 )
2015
22
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. ( 24366163 )
2014
23
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. ( 25119427 )
2014
24
Prognostic implications of the systolic to diastolic duration ratio in children with idiopathic or familial dilated cardiomyopathy. ( 25140066 )
2014
25
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. ( 24162388 )
2013
26
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. ( 23539503 )
2013
27
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. ( 23861363 )
2013
28
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ( 24205113 )
2013
29
Return of genetic results in the familial dilated cardiomyopathy research project. ( 22886719 )
2013
30
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. ( 24041700 )
2013
31
A novel titin mutation in adult-onset familial dilated cardiomyopathy. ( 22475360 )
2012
32
Familial dilated cardiomyopathy. Clinical and genetic characteristics. ( 23223770 )
2012
33
Familial dilated cardiomyopathy: Current challenges and future directions. ( 25610839 )
2012
34
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. ( 22517884 )
2012
35
Familial dilated cardiomyopathy associated with celiac disease. ( 22407635 )
2012
36
An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation. ( 23349612 )
2012
37
Review and metaanalysis of the frequency of familial dilated cardiomyopathy. ( 21798502 )
2011
38
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. ( 21492761 )
2011
39
Familial dilated cardiomyopathy. ( 21574539 )
2011
40
Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. ( 21642240 )
2011
41
A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy. ( 21763198 )
2011
42
Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy. ( 21636824 )
2011
43
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant. ( 24062880 )
2011
44
Guidelines for the diagnosis and management of familial dilated cardiomyopathy. ( 21885340 )
2011
45
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. ( 21920073 )
2011
46
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? ( 20952769 )
2010
47
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. ( 21167004 )
2010
48
Familial dilated cardiomyopathy--a case report from western Nepal. ( 21222413 )
2010
49
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. ( 20160190 )
2010
50
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. ( 20458010 )
2010

Variations for Cardiomyopathy, Dilated, 1b

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 basement membrane GO:0005604 9.32 DAG1 LAMA2
2 filopodium GO:0030175 9.26 DAG1 DMD
3 costamere GO:0043034 9.16 DAG1 DMD
4 dystrophin-associated glycoprotein complex GO:0016010 8.96 DAG1 DMD
5 sarcolemma GO:0042383 8.8 DAG1 DMD LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue regeneration GO:0043403 9.26 DAG1 DMD
2 response to denervation involved in regulation of muscle adaptation GO:0014894 9.16 DAG1 DMD
3 Schwann cell differentiation GO:0014037 8.96 DAG1 LAMA2
4 muscle organ development GO:0007517 8.8 DMD FKTN LAMA2

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase C binding GO:0005080 9.26 C1QBP LDB3
2 structural constituent of muscle GO:0008307 9.16 DAG1 DMD
3 vinculin binding GO:0017166 8.96 DAG1 DMD
4 dystroglycan binding GO:0002162 8.62 DAG1 DMD

Sources for Cardiomyopathy, Dilated, 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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