FDC
MCID: CRD233
MIFTS: 52

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 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
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 dilated cardiomyopathy and muscular dystrophy, congenital, 1b. 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 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

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
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 dilated cardiomyopathy 31.2 DAG1 DMD FKTN LAMA2 LDB3
2 muscular dystrophy, congenital, 1b 30.7 C1QBP DAG1 DMD FKTN LAMA2 LDB3
3 muscular dystrophy 29.5 DAG1 DMD FKTN LAMA2
4 muscular dystrophy, congenital, lmna-related 29.4 DAG1 DMD FKTN LAMA2
5 campomelic dysplasia 11.7
6 follicular dendritic cell sarcoma 11.4
7 perrault syndrome 1 11.1
8 angioimmunoblastic lymphadenopathy with dysproteinemia 11.1
9 angioimmunoblastic t-cell lymphoma 11.1
10 congenital muscular dystrophy type 1a 10.1
11 lymphoma, mucosa-associated lymphoid type 10.0
12 adult t-cell leukemia 10.0
13 leukemia 10.0
14 lymphoma 10.0
15 t-cell leukemia 10.0
16 muscle eye brain disease 9.9 DAG1 FKTN
17 isolated hyperckemia 9.9 DMD LAMA2
18 creatine phosphokinase, elevated serum 9.9 DMD LAMA2
19 myopathy, x-linked, with excessive autophagy 9.9 DMD LAMA2
20 miyoshi muscular dystrophy 9.9 DMD LAMA2
21 rigid spine muscular dystrophy 1 9.9 DMD LAMA2
22 myopathy, myofibrillar, 2 9.9 DMD LDB3
23 malignant hyperthermia 9.9 DMD LAMA2
24 neuromuscular disease 9.8 DMD LAMA2
25 myofibrillar myopathy 9.8 DMD LDB3
26 muscular dystrophy, becker type 9.8 DMD FKTN LAMA2
27 lissencephaly 9.8 DAG1 FKTN
28 limb-girdle muscular dystrophy 9.8 DMD FKTN LAMA2
29 familial isolated dilated cardiomyopathy 9.7 DMD FKTN LDB3
30 myocarditis 9.7 DAG1 DMD
31 muscular dystrophy, congenital merosin-deficient, 1a 9.6 DAG1 DMD FKTN LAMA2
32 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 DAG1 DMD FKTN LAMA2
33 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 DAG1 DMD FKTN LAMA2
34 muscular dystrophy-dystroglycanopathy , type b, 6 9.6 DAG1 DMD FKTN LAMA2
35 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 DAG1 DMD FKTN LAMA2
36 muscle tissue disease 9.6 DAG1 DMD FKTN LAMA2
37 walker-warburg syndrome 9.5 DAG1 DMD FKTN LAMA2
38 cardiomyopathy, dilated, 1d 9.5 DAG1 DMD LAMA2 LDB3
39 cardiomyopathy, dilated, 1a 9.5 DAG1 DMD LAMA2 LDB3
40 muscular disease 9.4 DAG1 DMD FKTN 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:
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

Human phenotypes related to Cardiomyopathy, Dilated, 1b:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 impaired myocardial contractility 32 HP:0006670
3 ventricular arrhythmia 32 HP:0004308
4 dilatation 32 HP:0002617

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 HIV Protease Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4
protease inhibitors Phase 3
5 Angiotensin-Converting Enzyme 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 Mayo AVC Registry and Biobank Recruiting NCT03049254
3 Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a Active, not recruiting NCT03090425

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, Eye, Thyroid, Brain, T Cells

Publications for Cardiomyopathy, Dilated, 1b

Articles related to Cardiomyopathy, Dilated, 1b:

(show top 50) (show all 155)
# Title Authors Year
1
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management. ( 30482687 )
2019
2
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. ( 29961767 )
2018
3
ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 29445930 )
2018
4
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. ( 29551499 )
2018
5
The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei. ( 29109008 )
2018
6
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
7
HAND2 loss-of-function mutation causes familial dilated cardiomyopathy. ( 30217752 )
2018
8
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. ( 30221713 )
2018
9
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy. ( 28902616 )
2017
10
Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ( 28088328 )
2017
11
CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 28099117 )
2017
12
Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy. ( 28816949 )
2017
13
Identification of MYLK3 mutations in familial dilated cardiomyopathy. ( 29235529 )
2017
14
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
15
Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy. ( 28401079 )
2017
16
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy. ( 28600229 )
2017
17
Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy. ( 28655534 )
2017
18
Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers. ( 27889554 )
2017
19
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy. ( 27235420 )
2016
20
GSK3I^ heterozygous knockout is cardioprotective in a knock-in mouse model of familial dilated cardiomyopathy. ( 27106044 )
2016
21
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene. ( 27391596 )
2016
22
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model. ( 27105042 )
2016
23
Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. ( 26604136 )
2016
24
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26581070 )
2016
25
Cardiomyopathies: In vitro genetic correction of familial dilated cardiomyopathy. ( 27489187 )
2016
26
Genetic Variations Leading to Familial Dilated Cardiomyopathy. ( 27802374 )
2016
27
Dkk3 prevents familial dilated cardiomyopathy development through Wnt pathway. ( 26641069 )
2016
28
Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing. ( 26852066 )
2016
29
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy. ( 26884609 )
2016
30
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. ( 26899768 )
2016
31
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. ( 25503402 )
2015
32
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. ( 25725155 )
2015
33
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. ( 26118961 )
2015
34
GATA5 loss-of-function mutation in familial dilated cardiomyopathy. ( 25543888 )
2015
35
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. ( 25825243 )
2015
36
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
37
A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. ( 25498755 )
2015
38
Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. ( 27547593 )
2015
39
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. ( 24366163 )
2014
40
GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. ( 25119427 )
2014
41
Prognostic implications of the systolic to diastolic duration ratio in children with idiopathic or familial dilated cardiomyopathy. ( 25140066 )
2014
42
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. ( 24162388 )
2013
43
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. ( 23539503 )
2013
44
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. ( 23861363 )
2013
45
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ( 24205113 )
2013
46
Return of genetic results in the familial dilated cardiomyopathy research project. ( 22886719 )
2013
47
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. ( 24041700 )
2013
48
A novel titin mutation in adult-onset familial dilated cardiomyopathy. ( 22475360 )
2012
49
Familial dilated cardiomyopathy. Clinical and genetic characteristics. ( 23223770 )
2012
50
Familial dilated cardiomyopathy: Current challenges and future directions. ( 25610839 )
2012

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 9.37 DAG1 LAMA2
2 filopodium GO:0030175 9.32 DAG1 DMD
3 GABA-ergic synapse GO:0098982 9.26 C1QBP DAG1
4 costamere GO:0043034 9.16 DAG1 DMD
5 dystrophin-associated glycoprotein complex GO:0016010 8.96 DAG1 DMD
6 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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