FDC
MCID: FML058
MIFTS: 43

Familial Dilated Cardiomyopathy (FDC) malady

Cardiovascular, Genetic categories

Summaries for Familial Dilated Cardiomyopathy

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out 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. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure.

MalaCards: Familial Dilated Cardiomyopathy, also known as hypokinetic dilated cardiomyopathy, familial, is related to hypertrophic cardiomyopathy and follicular dendritic cell sarcoma. An important gene associated with Familial Dilated Cardiomyopathy is RBM20 (RNA binding motif protein 20), and among its related pathways are Cardiac muscle contraction and Cytoskeletal Signaling. The compounds connexin 45 and glycyrrhetinic acid have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and thyroid, and related mouse phenotypes are normal and growth/size.

Aliases & Classifications for Familial Dilated Cardiomyopathy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Aliases & Descriptions:

familial dilated cardiomyopathy 43 21
hypokinetic dilated cardiomyopathy, familial 43
primary familial dilated cardiomyopathy 21
cardiomyopathy, familial idiopathic 61
familial idiopathic cardiomyopathy 21
dilated cardiomyopathy, familial 43
cardiomyopathy, familial dilated 43
cardiomyopathy, dilated, 1b 61
congestive cardiomyopathy 21
fdc 21


Related Diseases for Familial Dilated Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the dilated cardiomyopathy family:

dilated cardiomyopathy with hypergonadotropic hypogonadism cardiomyopathy dilated with conduction defect type 1
cardiomyopathy dilated with conduction defect type 2 cardiomyopathy dilated with woolly hair and keratoderma
cardiomyopathy due to anthracyclines familial dilated cardiomyopathy
cardiomyopathy with or without skeletal myopathy dilated cardiomyopathy with quadriceps myopathy
des-related dilated cardiomyopathy cardiomyopathy, dilated, 1ll
cardiomyopathy, dilated, 1cc cardiomyopathy, dilated, 1a
cardiomyopathy, dilated, 1v cardiomyopathy, dilated, 1d
cardiomyopathy, dilated, 1aa cardiomyopathy, dilated, 1h
cardiomyopathy, dilated, 1g cardiomyopathy, dilated, 1i
cardiomyopathy, dilated, 1z cardiomyopathy, dilated, 1e
cardiomyopathy, dilated, 1gg cardiomyopathy, dilated, 1l
cardiomyopathy, dilated, 1k cardiomyopathy, dilated, 1jj
cardiomyopathy, dilated, 1p cardiomyopathy, dilated, 1j
cardiomyopathy, dilated, 2b cardiomyopathy, dilated, 1q
cardiomyopathy, dilated 1b cardiomyopathy, dilated, 1x
cardiomyopathy, dilated, 1kk cardiomyopathy, dilated, 1w
cardiomyopathy, dilated 1c cardiomyopathy, dilated, 1dd
cardiomyopathy, dilated, 1hh cardiomyopathy, dilated, 1m
cardiomyopathy, dilated, 1mm cardiomyopathy, dilated, 1ii
cardiomyopathy, dilated, 1o cardiomyopathy, dilated, 1t
cardiomyopathy, dilated, 1ee cardiomyopathy, dilated, 1s
cardiomyopathy, dilated, 1u cardiomyopathy, dilated, 1r
cardiomyopathy, dilated, 1n cardiomyopathy, dilated, 1bb
cardiomyopathy, dilated, 2a cardiomyopathy, dilated, 1ff

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy30.3TNNT2, MYOZ2, TTN, TPM1
2follicular dendritic cell sarcoma10.4
3cardiomyopathy, dilated 1b10.4
4non-familial dilated cardiomyopathy10.3
5peripartum cardiomyopathy10.2
6cardiomyopathy, dilated, 1a10.2
7cardiomyopathy, dilated, 1w10.2
8muscular dystrophy, congenital, 1b10.2
9atrioventricular block10.1
10conduct disorder10.1
11celiac disease10.1
12cardiomyopathy cataract hip spine disease10.1
13hypogonadism cardiomyopathy10.1
14left ventricular noncompaction10.1
15mitochondrial cardiomyopathy10.1
16cardiomyopathy, dilated, 1q10.1
17lmna-related dilated cardiomyopathy10.1
18congenital muscular dystrophy type 1a10.1
19keshan disease10.0
20beta-ketothiolase deficiency10.0
21cardiac sarcoidosis10.0
22angiodysplasia10.0
23endocardial fibroelastosis10.0
24rheumatic myocarditis10.0
25hypertensive heart disease10.0
26ketothiolase deficiency10.0
27botulism10.0
28angioimmunoblastic lymphadenopathy with dysproteinemia10.0
29congestive heart failure10.0TNNT2
30familial restrictive cardiomyopathy10.0TNNT2
31left ventricular noncompaction 610.0TNNT2, CMD1D
32cardiomyopathy, familial restrictive, 310.0TNNT2, CMD1D
33cardiomyopathy, dilated, 1d10.0TNNT2, CMD1D
34congenital heart defect10.0GJA5
35cardiomyopathy, familial hypertrophic, 210.0TNNT2, CMD1D
36emery-dreifuss muscular dystrophy10.0LMNA
37acute myocardial infarction10.0TNNT2
38diastolic heart failure10.0TTN
39calpainopathy10.0LMNA, TTN
40neuromuscular disease10.0SUN2, LMNA, TTN
41muscular dystrophy10.0TTN, LMNA, SUN2
42duchenne muscular dystrophy10.0TNNT2, MYOZ2, TTN
43sudden cardiac death multi-gene panels10.0TNNT2, GJA1, LMNA, TPM1
44familial hypertrophic cardiomyopathy10.0TNNT2, TNNC1, TTN, TPM1
45limb-girdle muscular dystrophy10.0LMNA, TTN
46ischemia10.0TTN, GJA1, CHRM2, TNNT2
47rhabdomyosarcoma10.0TTN, GJA1, MYOZ2, MEF2A
48myopathy10.0TNNT2, MYOZ2, MYOZ1, TAZ, TTN, LMNA
49noonan syndrome10.0TNNT2, CHRM2, MYOZ2, TAZ, GJA1, TTN
50hypertrophy of breast10.0TNNT2, MEF2A, MYOZ2, GJA1, TTN, LMNA

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



Diseases related to familial dilated cardiomyopathy

Clinical Features for Familial Dilated Cardiomyopathy

Drugs & Therapeutics for Familial Dilated Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Dilated Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Familial Dilated Cardiomyopathy

Search NIH Clinical Center for Familial Dilated Cardiomyopathy

Search CenterWatch for Familial Dilated Cardiomyopathy

Genetic Tests for Familial Dilated Cardiomyopathy

Anatomical Context for Familial Dilated Cardiomyopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Dilated Cardiomyopathy:

33
Whole blood, Heart, Thyroid, T cells, Cardiac myocytes

Animal Models for Familial Dilated Cardiomyopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Dilated Cardiomyopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6TNNT2, GJA5, GJA1, TTN, LMNA, SUN2
2MP:00053788.1TTN, GJA1, MYOZ1, TRDN, CHRM2, SUN2
3MP:00053857.8MYOZ2, TPM1, MEF2A, PPIF, TNNT2, GJA5
4MP:00053697.6TNNT2, SUN2, LMNA, TTN, GJA1, GJA5
5MP:00053767.6PPIF, CHRM2, MYOZ2, MYOZ1, GJA1, TTN

Publications for Familial Dilated Cardiomyopathy

Sources:
51PubMed
See all sources

Articles related to Familial Dilated Cardiomyopathy:

(show top 50)    (show all 130)
idTitleAuthorsYear
1
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. (24205113)
2013
2
Return of genetic results in the familial dilated cardiomyopathy research project. (22886719)
2013
3
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. (23861363)
2013
4
Peripartum cardiomyopathy and familial dilated Cardiomyopathy: a tale of two cases. (24162388)
2013
5
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar CaA^a8_ sensitivity. (23539503)
2013
6
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. (22224630)
2012
7
An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation. (23349612)
2012
8
Familial dilated cardiomyopathy. Clinical and genetic characteristics. (23223770)
2012
9
Familial dilated cardiomyopathy associated with celiac disease. (22407635)
2012
10
Letter by Baruteau et al regarding article, "Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy". (21242504)
2011
11
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. (21920073)
2011
12
Review and metaanalysis of the frequency of familial dilated cardiomyopathy. (21798502)
2011
13
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? (20952769)
2010
14
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation. (20206892)
2010
15
Mitogenic cardiomyopathy: a lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation. (20303141)
2010
16
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. (20160190)
2010
17
Meta-iodobenzylguanidine iodine-123 and cardiac adrenergic activity in familial dilated cardiomyopathy. (20846632)
2010
18
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. (18795223)
2009
19
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (19712804)
2009
20
A missense mutation in the CHRM2 gene is associated with familial dilated cardiomyopathy. (18451336)
2008
21
Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data. (18796670)
2008
22
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (19412328)
2008
23
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. (17334235)
2007
24
Guidelines for the diagnosis and management of familial dilated cardiomyopathy. (17188933)
2007
25
The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments. (17360712)
2007
26
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. (16911908)
2006
27
Viruses and other environmental factors as possible sources of phenotypic heterogeneity in familial dilated cardiomyopathy. (16458162)
2006
28
Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis. (16523513)
2006
29
Familial variable expression of dilated cardiomyopathy in AlstrAPm syndrome: a report of four sibs. (15809999)
2005
30
Familial clustering of autoimmune diseases in patients with dilated cardiomyopathy. (15110223)
2004
31
A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy. (15140538)
2004
32
Cardiology patient page. Familial dilated cardiomyopathy. (14581388)
2003
33
Progression of familial and non-familial dilated cardiomyopathy: long term follow up. (12807850)
2003
34
Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. (12794684)
2003
35
Immunosuppressive treatment in familial dilated cardiomyopathy with biopsy-proven intramyocardial inflammation? (12570961)
2003
36
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. (11985914)
2002
37
Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. (11052854)
2000
38
Familial dilated cardiomyopathy. (10534480)
1999
39
Familial dilated cardiomyopathy locus maps to chromosome 2q31. (10051295)
1999
40
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. (9382102)
1997
41
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. (8823300)
1996
42
Familial dilated cardiomyopathy and spontaneous ventricular arrhythmias. (8820844)
1996
43
Sex influenced familial dilated cardiomyopathy. (9251326)
1996
44
Frequency of familial dilated cardiomyopathy. (8682093)
1995
45
Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. (7573045)
1995
46
Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. (8521556)
1995
47
Genetic heterogeneity in familial dilated cardiomyopathy. (8825069)
1995
48
Familial dilated cardiomyopathy. (1584274)
1992
49
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. (1727235)
1992
50
Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases. (3444043)
1987

Genetic Variations for Familial Dilated Cardiomyopathy

Expression for genes affiliated with Familial Dilated Cardiomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Dilated Cardiomyopathy

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

Pathways for genes affiliated with Familial Dilated Cardiomyopathy

Sources:
30KEGG, 4Cell Signaling Technology, 38NCBI BioSystems Database, 54Reactome, 50PharmGKB
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Compounds for genes affiliated with Familial Dilated Cardiomyopathy

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1connexin 454510.2GJA5, GJA1
2glycyrrhetinic acid45 2411.2GJA1, GJA5
3gap 276010.1GJA5, GJA1
4carbenoxolone disodium6010.0GJA5, GJA1
5octanol29 2411.0GJA1, GJA5
6scrambled 10panx609.9GJA5, GJA1
7ryanodine45 29 6011.8TRDN, GJA1, TTN
810panx609.7GJA5, GJA1
9acetylcholine45 50 29 11 2413.6TTN, GJA1, MYOZ2, CHRM2
10creatinine459.5LMNA, TTN, MYOZ2, MEF2A, TNNT2
11potassium45 11 2411.5MEF2A, CHRM2, GJA1, TTN
12calcium45 50 11 2410.6TPM1, TNNT2, TNNC1, MEF2A, CHRM2, TRDN

GO Terms for genes affiliated with Familial Dilated Cardiomyopathy

Sources:
16Gene Ontology
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Cellular components related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin complexGO:00586110.1TNNC1, TNNT2
2striated muscle thin filamentGO:00586510.1TTN, TNNT2
3condensed nuclear chromosomeGO:00079410.0TTN, SUN2
4sarcomereGO:0300179.9MYOZ2, TPM1, TNNT2
5gap junctionGO:0059219.9GJA5, GJA1
6Z discGO:0300189.8TTN, MYOZ2, MURC
7connexon complexGO:0059229.7GJA5, GJA1

Biological processes related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1atrial ventricular junction remodelingGO:00329410.3GJA1, GJA5
2regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.2GJA5, GJA1
3regulation of atrial cardiac muscle cell membrane depolarizationGO:06037110.2GJA1, GJA5
4gap junction assemblyGO:01626410.1GJA1, GJA5
5regulation of muscle contractionGO:00693710.1TNNC1, TPM1, TNNT2
6ventricular cardiac muscle tissue morphogenesisGO:05501010.1TPM1, TNNC1, TNNT2
7regulation of atrial cardiac muscle cell action potentialGO:08601410.1GJA5, GJA1
8sarcomere organizationGO:04521410.0TNNT2, TPM1, TTN
9regulation of heart contractionGO:00801610.0TPM1, CHRM2, TNNT2
10adult heart developmentGO:00751210.0GJA1, TTN
11negative regulation of ATPase activityGO:0327809.9TNNT2, PPIF
12regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.9GJA1, GJA5
13cardiac muscle contractionGO:0600489.9TPM1, TTN, TAZ, TNNC1
14muscle filament slidingGO:0300499.9TNNC1, TNNT2, TTN, TPM1
15muscle organ developmentGO:0075179.8LMNA, MEF2A, MURC
16heart developmentGO:0075079.8RBM20, TAZ, GJA1, MEF2A
17positive regulation of ATPase activityGO:0327819.7TNNT2, TPM1
18muscle contractionGO:0069369.5TRDN, TAZ, GJA1, TTN, TPM1

Molecular functions related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin I bindingGO:03101310.1TNNC1, TNNT2
2telethonin bindingGO:0314339.7TTN, MYOZ2

Products for genes affiliated with Familial Dilated Cardiomyopathy

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Sources for Familial Dilated Cardiomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet