MCID: FML304
MIFTS: 40

Familial Isolated Dilated Cardiomyopathy

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Dilated Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Dilated Cardiomyopathy:

Name: Familial Isolated Dilated Cardiomyopathy 58 6
Familial or Idiopathic Dilated Cardiomyopathy 58

Characteristics:

Orphanet epidemiological data:

58
familial isolated dilated cardiomyopathy
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.0
UMLS via Orphanet 72 C0340427
Orphanet 58 ORPHA154

Summaries for Familial Isolated Dilated Cardiomyopathy

MalaCards based summary : Familial Isolated Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 4 and left ventricular noncompaction. An important gene associated with Familial Isolated Dilated Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, neutrophil and skeletal muscle, and related phenotypes are dilated cardiomyopathy and sensorineural hearing impairment

Related Diseases for Familial Isolated Dilated Cardiomyopathy

Diseases related to Familial Isolated Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 4 30.8 TNNT2 MYBPC3 DMD
2 left ventricular noncompaction 29.4 TNNT2 MYH6 MYBPC3 LDB3 LAMA4 FHL2
3 dilated cardiomyopathy 29.0 TNNT2 MYH6 MYBPC3 LDB3 LAMA4 GATAD1
4 fibroblastic rheumatism 10.7 DES ACTC1
5 ovarian fibrothecoma 10.7 DES ACTC1
6 extracardiac rhabdomyoma 10.7 DMD DES
7 cytoplasmic body myopathy 10.6 DMD DES
8 ischemic fasciitis 10.6 DES ACTC1
9 benign metastasizing leiomyoma 10.6 DES ACTC1
10 cardioneuromyopathy with hyaline masses and nemaline rods 10.6 DMD DES
11 adult cystic nephroma 10.6 DES ACTC1
12 pulmonary vein stenosis 10.6 DES ACTC1
13 autosomal dominant distal myopathy 10.6 DMD DES
14 cutaneous leiomyosarcoma 10.6 DES ACTC1
15 reducing body myopathy 10.6 DMD DES
16 botryoid rhabdomyosarcoma 10.6 DES ACTC1
17 microcolon 10.6 DMD DES
18 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.6 LDB3 DSG2
19 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 LDB3 DSG2
20 rare tumor 10.6 DES ACTC1
21 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.6 LDB3 DSG2
22 syringocystadenoma papilliferum 10.6 DES ACTC1
23 parachordoma 10.6 DES ACTC1
24 glomangioma 10.6 DES ACTC1
25 heart septal defect 10.6 TNNT2 MYH6 ACTC1
26 reticulum cell sarcoma 10.6 DES ACTC1
27 myopathy, myofibrillar, 5 10.6 LDB3 CRYAB BAG3
28 myopathy, myofibrillar, 9, with early respiratory failure 10.6 LDB3 CRYAB BAG3
29 myopathy, spheroid body 10.6 LDB3 DES BAG3
30 angiolipoma 10.6 DES ACTC1
31 spindle cell lipoma 10.6 DES ACTC1
32 myopathy, myofibrillar, 3 10.6 LDB3 DMD BAG3
33 ossifying fibromyxoid tumor 10.5 DES ACTC1
34 muscular dystrophy-dystroglycanopathy , type a, 4 10.5 FKTN DOLK DMD
35 muscular disease 10.5 MYH6 FKTN DMD
36 muscular dystrophy-dystroglycanopathy 10.5 FKTN DOLK DMD
37 non-langerhans-cell histiocytosis 10.5 DES ACTC1
38 rigid spine muscular dystrophy 1 10.5 FKTN DMD BAG3
39 mitral valve insufficiency 10.5 TNNT2 MYH6 MYBPC3
40 autosomal recessive limb-girdle muscular dystrophy 10.5 FKTN DMD DES
41 cardiomyopathy, dilated, 1b 10.5 MYH6 MYBPC3 BAG3
42 myopathy, congenital 10.5 MYH6 DMD ACTN2
43 myopathy, myofibrillar, 4 10.5 LDB3 CRYAB BAG3 ACTN2
44 danon disease 10.5 MYH6 MYBPC3 CSRP3
45 noonan syndrome with multiple lentigines 10.5 TNNT2 MYH6 MYBPC3
46 cardiomyopathy, dilated, 1d 10.5 TNNT2 LDB3
47 reducing body myopathy 1a 10.5 LDB3 BAG3
48 myopathy, myofibrillar, 2 10.5 LDB3 DMD CRYAB BAG3
49 atrial fibrillation 10.5 TNNT2 MYBPC3 LAMA4 ABCC9
50 wolff-parkinson-white syndrome 10.5 TNNT2 MYH6 MYBPC3

Graphical network of the top 20 diseases related to Familial Isolated Dilated Cardiomyopathy:



Diseases related to Familial Isolated Dilated Cardiomyopathy

Symptoms & Phenotypes for Familial Isolated Dilated Cardiomyopathy

Human phenotypes related to Familial Isolated Dilated Cardiomyopathy:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
3 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
4 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
5 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
6 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
7 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
8 abnormality of neutrophils 58 31 occasional (7.5%) Occasional (29-5%) HP:0001874

GenomeRNAi Phenotypes related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.47 ANKRD1
2 Decreased viability GR00249-S 9.47 ABCC9 BAG3 FKTN TNNT2
3 Decreased viability GR00381-A-1 9.47 LDB3 MYBPC3
4 Decreased viability GR00386-A-1 9.47 BAG3 LAMA4 MYBPC3 MYH6
5 Decreased viability GR00402-S-2 9.47 DMD LAMA4 MYBPC3

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CSRP3
2 behavior/neurological MP:0005386 10.22 ABCC9 ANKRD1 BAG3 CAP2 CRYAB DES
3 cellular MP:0005384 10.06 ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES
4 growth/size/body region MP:0005378 10.03 ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CSRP3
5 homeostasis/metabolism MP:0005376 10.03 ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CRYAB
6 mortality/aging MP:0010768 9.8 ABCC9 ACTC1 BAG3 CAP2 CSRP3 DES
7 muscle MP:0005369 9.53 ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CRYAB

Drugs & Therapeutics for Familial Isolated Dilated Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Familial Isolated Dilated Cardiomyopathy

Genetic Tests for Familial Isolated Dilated Cardiomyopathy

Anatomical Context for Familial Isolated Dilated Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Dilated Cardiomyopathy:

40
Heart, Neutrophil, Skeletal Muscle, Testes, Endothelial

Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 61 6
20215591 2010
2
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 6 61
19412328 2008
3
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
4
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. 6
26419279 2016
5
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 6
26315439 2015
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
7
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. 6
25173926 2014
8
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. 6
25224718 2014
9
RAF1 mutations in childhood-onset dilated cardiomyopathy. 6
24777450 2014
10
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. 6
23695275 2014
11
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 6
23768516 2013
12
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
13
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 6
22892539 2013
14
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 6
22999724 2012
15
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 6
22710484 2012
16
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 6
22766342 2012
17
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. 6
22286171 2012
18
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 6
21965549 2011
19
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 6
21898660 2011
20
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6
21551322 2011
21
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 6
21353195 2011
22
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 6
21282613 2011
23
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 6
21167350 2011
24
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 6
20551992 2010
25
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 6
20083571 2010
26
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 6
20590677 2010
27
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 6
20022194 2010
28
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 6
19881492 2009
29
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. 6
19842201 2009
30
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 6
19712804 2009
31
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 6
19259135 2009
32
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 6
19590045 2009
33
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6
18651846 2008
34
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 6
18505755 2008
35
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. 6
18678517 2008
36
Revised spectrum of mutations in sarcoglycanopathies. 6
18285821 2008
37
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
38
Shared genetic causes of cardiac hypertrophy in children and adults. 6
18403758 2008
39
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. 6
18241046 2008
40
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. 6
18006477 2008
41
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 6
17655857 2007
42
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. 6
17646580 2007
43
Dilated Cardiomyopathy Overview 6
20301486 2007
44
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. 6
17105751 2007
45
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. 6
17164264 2007
46
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 6
17186461 2006
47
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6
17097056 2006
48
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 6
17036286 2006
49
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 6
16798039 2006
50
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 6
16949038 2006

Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
2 DSG2 NM_001943.5(DSG2):c.1361A>C (p.Asp454Ala)SNV Uncertain significance 585295 rs1567930368 18:29115313-29115313 18:31535350-31535350

Expression for Familial Isolated Dilated Cardiomyopathy

Search GEO for disease gene expression data for Familial Isolated Dilated Cardiomyopathy.

Pathways for Familial Isolated Dilated Cardiomyopathy

GO Terms for Familial Isolated Dilated Cardiomyopathy

Cellular components related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 filopodium GO:0030175 9.58 DMD ACTN2 ACTC1
2 stress fiber GO:0001725 9.54 MYH6 LDB3 BAG3
3 myofibril GO:0030016 9.5 MYH6 DMD ANKRD1
4 sarcomere GO:0030017 9.5 TNNT2 MYH6 MYBPC3 CSRP3 ACTN2 ACTC1
5 myosin filament GO:0032982 9.48 MYH6 MYBPC3
6 contractile fiber GO:0043292 9.46 DES CRYAB
7 cardiac myofibril GO:0097512 9.46 TNNT2 MYBPC3 DES CRYAB
8 pseudopodium GO:0031143 9.43 LDB3 ACTN2
9 I band GO:0031674 9.43 CRYAB ANKRD1 ACTC1
10 Z disc GO:0030018 9.28 MYH6 LDB3 FHL2 DMD DES CSRP3

Biological processes related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 FKTN DMD CSRP3 CRYAB
2 muscle contraction GO:0006936 9.65 TNNT2 MYH6 DES CRYAB ACTN2
3 cardiac muscle contraction GO:0060048 9.63 TNNT2 MYH6 MYBPC3 DMD CSRP3 ACTC1
4 regulation of heart contraction GO:0008016 9.58 TNNT2 MYH6 DES
5 muscle cell cellular homeostasis GO:0046716 9.54 DMD BAG3
6 actin filament-based movement GO:0030048 9.52 MYH6 ACTC1
7 regulation of the force of heart contraction GO:0002026 9.51 MYH6 CSRP3
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.5 TNNT2 MYH6 MYBPC3
9 response to muscle stretch GO:0035994 9.49 DMD ANKRD1
10 protein kinase C signaling GO:0070528 9.48 CSRP3 ANKRD1
11 cardiac muscle tissue morphogenesis GO:0055008 9.46 ANKRD1 ACTC1
12 cardiac myofibril assembly GO:0055003 9.43 CSRP3 ACTC1
13 sarcomere organization GO:0045214 9.43 TNNT2 MYH6 LDB3 CSRP3 ANKRD1 ACTN2
14 muscle filament sliding GO:0030049 9.17 TNNT2 MYH6 MYBPC3 DMD DES ACTN2

Molecular functions related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 MYBPC3 FHL2 DES CSRP3 CRYAB CAP2
2 cytoskeletal protein binding GO:0008092 9.56 LDB3 DES CRYAB ACTN2
3 myosin binding GO:0017022 9.5 MYBPC3 DMD ACTC1
4 titin binding GO:0031432 9.33 MYBPC3 ANKRD1 ACTN2
5 structural constituent of muscle GO:0008307 9.26 MYBPC3 DMD CSRP3 ACTN2
6 actin binding GO:0003779 9.23 TNNT2 MYH6 MYBPC3 LDB3 DMD CSRP3

Sources for Familial Isolated Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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