MCID: FML058
MIFTS: 41

Familial Dilated Cardiomyopathy malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Familial Dilated Cardiomyopathy

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Aliases & Descriptions for Familial Dilated Cardiomyopathy:

Name: Familial Dilated Cardiomyopathy 45 23 65
Hypokinetic Dilated Cardiomyopathy, Familial 45
Primary Familial Dilated Cardiomyopathy 23
Cardiomyopathy, Familial Idiopathic 65
Familial Idiopathic Cardiomyopathy 23
 
Cardiomyopathy, Familial Dilated 45
Dilated Cardiomyopathy, Familial 45
Congestive Cardiomyopathy 23
Cardiomyopathy, Dilated 65
Fdc 23


Classifications:



Summaries for Familial Dilated Cardiomyopathy

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Genetics Home Reference:23 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 hypokinetic dilated cardiomyopathy, familial, is related to muscular dystrophy and dilated cardiomyopathy. An important gene associated with Familial Dilated Cardiomyopathy is SCN5A (Sodium Channel, Voltage Gated, Type V Alpha Subunit), and among its related pathways are Cardiac Progenitor Differentiation and Antiarrhythmic Pathway, Pharmacodynamics. The drugs inamrinone and inamrinone lactate have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and eye, and related mouse phenotypes are normal and muscle.

Related Diseases for Familial Dilated Cardiomyopathy

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Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
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, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines familial dilated cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

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

(show top 50)    (show all 199)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy29.9LMNA, TNNT2, TTN
2dilated cardiomyopathy11.2
3cardiomyopathy11.2
4hiv-110.5
5acquired immunodeficiency syndrome10.5
6human immunodeficiency virus infectious disease10.4
7asthma10.4
8asthma 210.4
9asthma 110.4
10viral infectious disease10.4
11non-suppurative otitis media10.4
12hypertension, essential10.4
13hepatitis c virus10.4
14pulmonary disease, chronic obstructive10.4
15hepatitis10.4
16hepatitis c10.4
17hepatitis a10.4
18cork-handlers' disease10.4
19autonomic nervous system disease10.4
20mouth disease10.4
21obstructive lung disease10.4
22peripheral nervous system disease10.4
23respiratory system disease10.4
24galactosemia10.4
25liver disease10.4
26nutritional deficiency disease10.4
27viral hepatitis10.4
28sexual disorder10.3
29ipex syndrome10.3
30peripartum cardiomyopathy10.3
31immunodeficiency 2410.3
32diabetes mellitus, noninsulin-dependent10.3
33c syndrome10.3
34mody, type ii10.3
35diabetes mellitus, noninsulin-dependent, 210.3
36allergic asthma10.3
37follicular dendritic cell sarcoma10.3
38withdrawal disorder10.3
39cd4 deficiency10.3
40response to antiviral treatment in hepatitis c10.3
41immunodeficiency 3810.2
42diabetes mellitus, noninsulin-dependent 110.2
43diabetes mellitus, insulin-dependent10.2
44severe combined immunodeficiency10.2
45lipid metabolism disorder10.2
46severe combined immune deficiency10.2
47malouf syndrome10.2
48huntington disease10.1
49immunodeficiency 1010.1
50coronary heart disease 610.1

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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Drugs & Therapeutics for Familial Dilated Cardiomyopathy

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Drugs for Familial Dilated Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PerindoprilapprovedPhase 337107133-36-8107807
Synonyms:
(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid
(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
82834-16-0
82834-16-0 (Parent)
99149-83-4
AC1L32S9
ACEON
Aceon
BIDD:GT0786
BRD-K92731339-227-02-3
BSPBio_003206
C07706
C19H32N2O5
CHEBI:8024
CHEMBL1581
CID107807
Coverene Cor
Coverex
Coversum
Coversyl
D03753
DB00790
DW-7950
 
KBio2_002494
KBio2_005062
KBio2_007630
KBio3_002426
KBioGR_001190
KBioSS_002502
LS-178402
MLS002154153
McN-A-2833
MolPort-005-935-307
PERINDOPRIL
Perindopril (USAN/INN)
Perindopril Erbumine
Perindoprilum
Prestarium
S-9490
SED-9490
SMR001233453
SPBio_001216
Spectrum2_001108
Spectrum3_001683
Spectrum4_000775
Spectrum5_001689
Spectrum_001948
cpd with unspecified MF
ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE InhibitorsTerminatedNCT01583114Phase 3
2Autologous Stem Cells in Pediatric Patients With Dilated CardiomyopathySuspendedNCT01504594Phase 1
3Idiopathic Dilated CardiomyopathyCompletedNCT00005201
4Clinical and Genetic Examinations of Dilated CardiomyopathyRecruitingNCT02148926
5Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
6The Genetics of Dilated Cardiomyopathy: A Quebec-Based StudyRecruitingNCT00523653
7Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)RecruitingNCT01873976
8Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
9The Genetics of Cardiomyopathy and Heart FailureActive, not recruitingNCT00703443
10A Pilot Project Exploring the Impact of Whole Genome Sequencing in HealthcareEnrolling by invitationNCT01736566
11Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450

Search NIH Clinical Center for Familial Dilated Cardiomyopathy

Inferred drug relations via UMLS65/NDF-RT43:

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:

33
Heart, Thyroid, Eye

Animal Models for Familial Dilated Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Familial Dilated Cardiomyopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.3LMNA, SCN5A, TNNT2, TTN
2MP:00053697.6LDB3, LMNA, SCN5A, TNNT2, TTN
3MP:00053787.6LDB3, LMNA, SCN5A, TNNT2, TTN
4MP:00053857.5LDB3, LMNA, SCN5A, TNNT2, TTN

Publications for Familial Dilated Cardiomyopathy

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Articles related to Familial Dilated Cardiomyopathy:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. (25825243)
2015
2
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. (25725155)
2015
3
A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. (24366163)
2014
4
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. (24205113)
2013
5
Return of genetic results in the familial dilated cardiomyopathy research project. (22886719)
2013
6
GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. (24041700)
2013
7
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. (22517884)
2012
8
Familial dilated cardiomyopathy. (21574539)
2011
9
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
10
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. (21492761)
2011
11
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. (20307303)
2010
12
Familial dilated cardiomyopathy--a case report from western Nepal. (21222413)
2010
13
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. (20117437)
2010
14
Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity? (20952769)
2010
15
Familial dilated cardiomyopathy secondary to dystrophin splice site mutation. (20206892)
2010
16
Investigation of a transgenic mouse model of familial dilated cardiomyopathy. (20600154)
2010
17
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. (18795223)
2009
18
Survival of patients with familial dilated cardiomyopathy on optimal heart failure therapy. (19480309)
2009
19
Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. (18660445)
2008
20
A missense mutation in the CHRM2 gene is associated with familial dilated cardiomyopathy. (18451336)
2008
21
Portuguese study of familial dilated cardiomyopathy: the FATIMA study. (19044174)
2008
22
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. (18585512)
2008
23
Anti-heart autoantibodies in familial dilated cardiomyopathy. (18781472)
2008
24
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. (16911908)
2006
25
A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. (16266469)
2005
26
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (15219508)
2004
27
Familial dilated cardiomyopathy: evidence for clinical and immunogenetic heterogeneity. (12761452)
2003
28
Cardiology patient page. Familial dilated cardiomyopathy. (14581388)
2003
29
New phenotype of familial dilated cardiomyopathy and conduction disorders. (12595850)
2003
30
Familial dilated cardiomyopathy. (12621922)
2002
31
Genetic diagnosis of familial dilated cardiomyopathy]. (12025381)
2002
32
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. (11985914)
2002
33
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. (11684629)
2001
34
Low proportion of familial dilated cardiomyopathy in an arab population with a high prevalence of consanguineous marriages. (11808897)
2001
35
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. (11374497)
2001
36
Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. (11052854)
2000
37
Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected. (10496193)
1999
38
Familial dilated cardiomyopathy. (10534480)
1999
39
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
40
Familial dilated cardiomyopathy. (9768747)
1998
41
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. (9382102)
1997
42
Familial dilated cardiomyopathy in the United Kingdom. (7786655)
1995
43
Frequency of familial dilated cardiomyopathy. (8682093)
1995
44
Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms. (7546997)
1995
45
Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. (7573045)
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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Clinvar genetic disease variations for Familial Dilated Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002667.3(PLN): c.116T> G (p.Leu39Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033560GRCh37Chr 6, 118880200: 118880200
2MYH6NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser)single nucleotide variantLikely pathogenic, Pathogenicrs143978652GRCh37Chr 14, 23862646: 23862646
3ACTN2NM_001103.3(ACTN2): c.26A> G (p.Gln9Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121434525GRCh37Chr 1, 236849999: 236849999
4MYPNNM_032578.3(MYPN): c.3335C> T (p.Pro1112Leu)single nucleotide variantLikely pathogenic, Pathogenicrs71534278GRCh37Chr 10, 69959174: 69959174
5LDB3NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn)single nucleotide variantPathogenicrs121908338GRCh37Chr 10, 88446830: 88446830
6SCN5ANM_000335.4(SCN5A): c.1336G> A (p.Glu446Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199473339GRCh37Chr 3, 38647444: 38647444
7SCN5ANM_000335.4(SCN5A): c.3832G> A (p.Val1278Ile)single nucleotide variantLikely pathogenic, Pathogenicrs199473341GRCh37Chr 3, 38607905: 38607905
8SCN5ANM_000335.4(SCN5A): c.4780G> C (p.Asp1594His)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800

Expression for genes affiliated with Familial Dilated Cardiomyopathy

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SCN5A, TNNT2
29.4LMNA, SCN5A
3
Show member pathways
8.5LMNA, TNNT2, TTN

GO Terms for genes affiliated with Familial Dilated Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1striated muscle thin filamentGO:00058659.4TNNT2, TTN
2sarcomereGO:00300179.1TNNT2, TTN
3Z discGO:00300188.7LDB3, SCN5A, TTN

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

idNameGO IDScoreTop Affiliating Genes
1response to calcium ionGO:00515929.4TNNT2, TTN
2muscle contractionGO:00069369.0TNNT2, TTN
3muscle filament slidingGO:00300498.8TNNT2, TTN
4sarcomere organizationGO:00452148.7LDB3, TNNT2, TTN
5cardiac muscle contractionGO:00600488.7SCN5A, TNNT2, TTN

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:00513719.1LDB3, TTN

Sources for Familial Dilated Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet