FDC
MCID: FML058
MIFTS: 35

Familial Dilated Cardiomyopathy (FDC) malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Familial Dilated Cardiomyopathy

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21Genetics Home Reference, 32MalaCards
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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 dilated cardiomyopathy and hypertrophic cardiomyopathy. 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 heart, and related mouse phenotypes are normal and growth/size.

Aliases & Classifications for Familial Dilated Cardiomyopathy

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42NIH Rare Diseases, 21Genetics Home Reference, 60UMLS
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Classifications:

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


Aliases & Descriptions:

familial dilated cardiomyopathy 42 21
hypokinetic dilated cardiomyopathy, familial 42
primary familial dilated cardiomyopathy 21
cardiomyopathy, familial idiopathic 60
familial idiopathic cardiomyopathy 21
dilated cardiomyopathy, familial 42
cardiomyopathy, familial dilated 42
cardiomyopathy, dilated, 1b 60
congestive cardiomyopathy 21
fdc 21


Related Diseases for Familial Dilated Cardiomyopathy

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Sources:
17GeneCards, 18GeneDecks
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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, 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 57)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy31.6MEF2A, TNNT2, RBM20, CHRM2, TAZ, GJA1
2hypertrophic cardiomyopathy30.5TNNT2, MYOZ2, TTN, TPM1
3familial hypertrophic cardiomyopathy30.3TNNC1, TNNT2, TTN, TPM1
4muscular dystrophy30.1TTN, LMNA, SUN2
5myopathy30.1TNNT2, TPM1, LMNA, TTN, MYOZ1, MYOZ2
6cardiomyopathy, dilated 1b10.3
7follicular dendritic cell sarcoma10.3
8peripartum cardiomyopathy10.2
9cardiomyopathy, dilated, 1a10.2
10cardiomyopathy, dilated, 1w10.2
11non-familial dilated cardiomyopathy10.2
12muscular dystrophy, congenital, 1b10.2
13atrioventricular block10.1
14conduct disorder10.1
15celiac disease10.1
16cataract10.1
17chromosomal disease10.1
18conjunctivitis10.1
19hypogonadism10.1
20restrictive cardiomyopathy10.1
21thyroiditis10.1
22cardiomyopathy cataract hip spine disease10.1
23lmna-related dilated cardiomyopathy10.1
24congenital muscular dystrophy type 1a10.1
25keshan disease10.0
26beta-ketothiolase deficiency10.0
27cardiac sarcoidosis10.0
28angiodysplasia10.0
29endocardial fibroelastosis10.0
30rheumatic myocarditis10.0
31hypertensive heart disease10.0
32myocarditis10.0
33sarcoidosis10.0
34tonsillitis10.0
35botulism10.0
36hypertension10.0
37periodontitis10.0
38angioimmunoblastic lymphadenopathy with dysproteinemia10.0
39congestive heart failure10.0TNNT2
40familial restrictive cardiomyopathy10.0TNNT2
41left ventricular noncompaction 610.0TNNT2, CMD1D
42cardiomyopathy, familial hypertrophic, 210.0CMD1D, TNNT2
43cardiomyopathy, dilated, 1d10.0CMD1D, TNNT2
44congenital heart defect10.0GJA5
45cardiomyopathy, familial restrictive, 310.0TNNT2, CMD1D
46emery-dreifuss muscular dystrophy10.0LMNA
47acute myocardial infarction10.0TNNT2
48diastolic heart failure10.0TTN
49calpainopathy10.0TTN, LMNA
50neuromuscular disease10.0SUN2, LMNA, TTN

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



Diseases related to familial dilated cardiomyopathy

Clinical Features for Familial Dilated Cardiomyopathy

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Drugs & Therapeutics for Familial Dilated Cardiomyopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Dilated Cardiomyopathy

Search CenterWatch for Familial Dilated Cardiomyopathy

Genetic Tests for Familial Dilated Cardiomyopathy

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Anatomical Context for Familial Dilated Cardiomyopathy

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32MalaCards
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MalaCards organs/tissues related to Familial Dilated Cardiomyopathy:

32
Heart

Animal Models for Familial Dilated Cardiomyopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Dilated Cardiomyopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6TNNT2, GJA5, GJA1, TTN, LMNA, SUN2
2MP:00053788.1CHRM2, TRDN, MYOZ1, GJA1, TTN, LMNA
3MP:00053857.8CHRM2, MEF2A, PPIF, TNNT2, MYOZ2, GJA5
4MP:00053697.6SUN2, TNNT2, MEF2A, CHRM2, TRDN, MYOZ2
5MP:00053767.6MYOZ2, CHRM2, PPIF, TNNT2, MYOZ1, GJA5

Publications for Familial Dilated Cardiomyopathy

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Genetic Variations for Familial Dilated Cardiomyopathy

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Expression for genes affiliated with Familial Dilated Cardiomyopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
29KEGG, 4Cell Signaling Technology, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB
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Compounds for genes affiliated with Familial Dilated Cardiomyopathy

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44Novoseek, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 11DrugBank
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Compounds related to Familial Dilated Cardiomyopathy according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1connexin 454410.2GJA5, GJA1
2glycyrrhetinic acid44 2411.2GJA1, GJA5
3gap 275910.1GJA5, GJA1
4carbenoxolone disodium5910.0GJA5, GJA1
5octanol28 2411.0GJA1, GJA5
6scrambled 10panx599.9GJA5, GJA1
7ryanodine44 28 5911.8TRDN, GJA1, TTN
810panx599.7GJA5, GJA1
9acetylcholine44 49 28 11 2413.6TTN, GJA1, MYOZ2, CHRM2
10creatinine449.5LMNA, TTN, MYOZ2, MEF2A, TNNT2
11potassium44 11 2411.5MEF2A, CHRM2, GJA1, TTN
12calcium44 49 11 2410.6TPM1, TNNT2, TNNC1, MEF2A, CHRM2, TRDN

GO Terms for genes affiliated with Familial Dilated Cardiomyopathy

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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:00079410.0SUN2, TTN
4sarcomereGO:0300179.9TPM1, MYOZ2, TNNT2
5gap junctionGO:0059219.9GJA1, GJA5
6Z discGO:0300189.8MYOZ2, MURC, TTN
7connexon complexGO:0059229.7GJA1, GJA5

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

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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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet