FDC
MCID: FML058
MIFTS: 40

Familial Dilated Cardiomyopathy (FDC) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases, Ear diseases, Neuronal diseases categories
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Summaries for Familial Dilated Cardiomyopathy

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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 based summary: Familial Dilated Cardiomyopathy, also known as primary familial dilated cardiomyopathy, is related to dilated cardiomyopathy and myopathy, and has symptoms including An important gene associated with Familial Dilated Cardiomyopathy is RBM20 (RNA binding motif protein 20), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Hypertrophic cardiomyopathy (HCM). The drugs inamrinone and inamrinone lactate and the compound atp have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and thyroid.

Aliases & Classifications for Familial Dilated Cardiomyopathy

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Familial Dilated Cardiomyopathy, Aliases & Descriptions:

Name: Familial Dilated Cardiomyopathy 42 21 62
Primary Familial Dilated Cardiomyopathy 21 62
Congestive Cardiomyopathy 21 62
Hypokinetic Dilated Cardiomyopathy, Familial 42
Cardiomyopathy, Familial Idiopathic 62
 
Familial Idiopathic Cardiomyopathy 21
Dilated Cardiomyopathy, Familial 42
Cardiomyopathy, Familial Dilated 42
Cardiomyopathy, Dilated, 1b 62
Fdc 21


Classifications:



Related Diseases for Familial Dilated Cardiomyopathy

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Diseases in the Dilated Cardiomyopathy family:

Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
familial dilated cardiomyopathy Taz-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy Myh7-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Tpm1-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy Pln-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy Tmpo-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Dsg2-Related Dilated Cardiomyopathy
Nexn-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Myh6-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, 1nn
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, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Severe Dilated Cardiomyopathy Due to Lamin a/c Mutation

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy31.3LMNA, TAZ, RBM20
2myopathy29.8LMNA, TAZ
3follicular dendritic cell sarcoma10.4
4peripartum cardiomyopathy10.3
5cardiomyopathy, dilated, 1a10.3
6cataract10.1
7celiac disease10.1
8conduct disorder10.1
9atrioventricular block10.1
10conjunctivitis10.1
11hypogonadism10.1
12muscular dystrophy10.1
13thyroiditis10.1
14cardiomyopathy cataract hip spine disease10.1
15left ventricular noncompaction10.1
16aneurysm10.1
17cardiomyopathy, dilated, 1ii10.1
18angiodysplasia10.1
19beta-ketothiolase deficiency10.1
20endocardial fibroelastosis10.1
21cardiac sarcoidosis10.1
22keshan disease10.1
23rheumatic myocarditis10.1
24hypertensive heart disease10.1
25myocarditis10.1
26restrictive cardiomyopathy10.1
27sarcoidosis10.1
28ketothiolase deficiency10.1
29angioimmunoblastic lymphadenopathy with dysproteinemia10.0
30hypertension10.0
31malt lymphoma10.0
32tonsillitis10.0
33botulism10.0
34periodontitis10.0
35congenital heart disease9.9TAZ, LMNA
36noonan syndrome9.8TAZ, LMNA

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



Diseases related to familial dilated cardiomyopathy

Symptoms for Familial Dilated Cardiomyopathy

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HPO human phenotypes related to Familial Dilated Cardiomyopathy:

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

Drugs & Therapeutics for Familial Dilated Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Familial Dilated Cardiomyopathy

Search NIH Clinical Center for Familial Dilated Cardiomyopathy

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Familial Dilated Cardiomyopathy

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Anatomical Context for Familial Dilated Cardiomyopathy

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MalaCards organs/tissues related to Familial Dilated Cardiomyopathy:

32
Heart, Eye, Thyroid

Animal Models for Familial Dilated Cardiomyopathy or affiliated genes

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Publications for Familial Dilated Cardiomyopathy

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Articles related to Familial Dilated Cardiomyopathy:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. (24366163)
2014
2
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. (24205113)
2013
3
Return of genetic results in the familial dilated cardiomyopathy research project. (22886719)
2013
4
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. (24041700)
2013
5
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. (23861363)
2013
6
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. (22517884)
2012
7
Familial dilated cardiomyopathy. (21574539)
2011
8
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
9
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. (21492761)
2011
10
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. (20307303)
2010
11
Familial dilated cardiomyopathy--a case report from western Nepal. (21222413)
2010
12
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. (20117437)
2010
13
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? (20952769)
2010
14
Investigation of a transgenic mouse model of familial dilated cardiomyopathy. (20600154)
2010
15
Mitogenic cardiomyopathy: a lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation. (20303141)
2010
16
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. (18795223)
2009
17
Survival of patients with familial dilated cardiomyopathy on optimal heart failure therapy. (19480309)
2009
18
Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. (18660445)
2008
19
A missense mutation in the CHRM2 gene is associated with familial dilated cardiomyopathy. (18451336)
2008
20
Portuguese study of familial dilated cardiomyopathy: the FATIMA study. (19044174)
2008
21
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. (18585512)
2008
22
Anti-heart autoantibodies in familial dilated cardiomyopathy. (18781472)
2008
23
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. (16911908)
2006
24
A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. (16266469)
2005
25
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (15219508)
2004
26
Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity. (12761452)
2003
27
Cardiology patient page. Familial dilated cardiomyopathy. (14581388)
2003
28
New phenotype of familial dilated cardiomyopathy and conduction disorders. (12595850)
2003
29
Genetic diagnosis of familial dilated cardiomyopathy]. (12025381)
2002
30
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. (11985914)
2002
31
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. (11684629)
2001
32
Low proportion of familial dilated cardiomyopathy in an arab population with a high prevalence of consanguineous marriages. (11808897)
2001
33
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. (11374497)
2001
34
Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. (11052854)
2000
35
Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected. (10496193)
1999
36
Familial dilated cardiomyopathy. (10534480)
1999
37
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. (10099905)
1999
38
Familial dilated cardiomyopathy. (9768747)
1998
39
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. (9382102)
1997
40
Familial dilated cardiomyopathy and spontaneous ventricular arrhythmias. (8820844)
1996
41
Familial dilated cardiomyopathy in the United Kingdom. (7786655)
1995
42
Frequency of familial dilated cardiomyopathy. (8682093)
1995
43
Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms. (7546997)
1995
44
Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. (7573045)
1995
45
Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. (8521556)
1995
46
Familial dilated cardiomyopathy. (7873323)
1994
47
Familial dilated cardiomyopathy. (1584274)
1992
48
Familial dilated cardiomyopathy--study in two families. (3192264)
1988
49
Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases. (3444043)
1987
50
A familial dilated cardiomyopathy associated with cataracts and hip-spine disease. (3965265)
1985

Variations for Familial Dilated Cardiomyopathy

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Expression for genes affiliated with Familial Dilated Cardiomyopathy

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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

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Pathways related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GJA5, LMNA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.0LMNA, TNNC1

Compounds for genes affiliated with Familial Dilated Cardiomyopathy

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Sources:
44Novoseek, 28IUPHAR
See all sources

Compounds related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atp44 289.6TAZ, GJA5, LMNA

GO Terms for genes affiliated with Familial Dilated Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:0075079.5RBM20, TAZ
2cardiac muscle contractionGO:0600489.2TAZ, TNNC1
3muscle organ developmentGO:0075178.9MURC, LMNA

Products for genes affiliated with Familial Dilated Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Dilated Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet