MCID: CRD092
MIFTS: 52

Cardiomyopathy, Dilated, 1w malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases, Ear diseases, Neuronal diseases categories

Summaries for Cardiomyopathy, Dilated, 1w

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48OMIM, 34MalaCards
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MalaCards: Cardiomyopathy, Dilated, 1w, also known as familial isolated dilated cardiomyopathy, is related to dilated cardiomyopathy and vcl-related dilated cardiomyopathy, and has symptoms including autosomal recessive inheritance, x-linked dominant inheritance and stillbirth/neonatal death. An important gene associated with Cardiomyopathy, Dilated, 1w is VCL (vinculin), and among its related pathways are A-beta Plaque Formation and APP Metabolism and Notch Pathway. The compounds s-182 and dapt have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and respiratory system.

Description from OMIM:48 609915, 611407, 611615, 611878, 611879 611880, 612158, 612877, 613122, 613172, 613252, 613286, 613424, 613426, 613642, 613694, 613697, 613740, 613881, 614672, 615184, 615235, 615248, 302045, 600884, 601154, 601493, 601494, 604145, 604288, 604765, 605582, 606685, 607482, 607487, 608569, 609909, 615373, 615396 more

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

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48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial isolated dilated cardiomyopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

cardiomyopathy, dilated, 1w 48
familial isolated dilated cardiomyopathy 50 48
familial or idiopathic dilated cardiomyopathy 50


Related Diseases for Cardiomyopathy, Dilated, 1w

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18GeneCards, 19GeneDecks
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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 Cardiomyopathy, Dilated, 1w via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy30.7RBM20, VCL, TCAP, TAZ, CRYAB, CSRP3
2vcl-related dilated cardiomyopathy10.3
3endocardial fibroelastosis10.1ACTN2, TAZ
4alzheimer disease type 110.1PSEN2, PSEN1
5rhabdomyosarcoma10.1VCL, ACTC1
6becker muscular dystrophy10.1FKTN, VCL
7alzheimer disease type 210.1PSEN2, PSEN1
8myofibrillar myopathy10.1LDB3, CRYAB, BAG3
9prion disease10.1PSEN2, PSEN1
10frontotemporal dementia10.1PSEN1, PSEN2, CRYAB
11barth syndrome10.1LDB3, TAZ
12hemorrhage, intracerebral10.1PSEN2, PSEN1
13duchenne muscular dystrophy10.1VCL, FKTN, TCAP
14neuromuscular disease10.1CRYAB, TCAP, ACTN2, VCL
15muscular dystrophy10.1TCAP, ACTN2, FKTN
16familial hypertrophic cardiomyopathy10.1CSRP3, PLN, TCAP, ACTC1
17congenital heart disease10.1ACTC1, TAZ, PLN, CSRP3
18astrocytoma10.1PSEN1, VCL, PSEN2, CRYAB
19hypertrophy of breast10.1CSRP3, PLN, VCL, RAF1, CRYAB
20ischemia10.1PSEN1, RAF1, CRYAB, VCL
21limb-girdle muscular dystrophy10.1FKTN, TCAP
22amyloid tumor10.1PSEN2, PSEN1
23dementia10.1PSEN2, CRYAB, PSEN1
24malignant glioma10.1RAF1, VCL, CRYAB, PSEN2, PSEN1
25pick's disease10.1CRYAB, PSEN1
26myopathy10.1FKTN, TAZ, CRYAB, LDB3, TCAP
27noonan syndrome10.1VCL, TCAP, ACTC1, PLN, CSRP3, CRYAB
28hypertrophic cardiomyopathy10.1CSRP3, ACTC1
29breast cancer10.0CRYAB, RAF1, CSRP3, FHL2, PSEN2, VCL

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1w:



Diseases related to cardiomyopathy, dilated, 1w

Symptoms for Cardiomyopathy, Dilated, 1w

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48OMIM, 50Orphanet
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Clinical features from OMIM:

609915, 611407, 611615, 611878, 611879, 611880, 612158, 612877, 613122, 613172 613252, 613286, 613424, 613426, 613642, 613694, 613697, 613740, 613881, 614672, 615184, 615235, 615248, 302045, 600884, 601154, 601493, 601494, 604145, 604288, 604765, 605582, 606685, 607482, 607487, 608569, 609909, 615373, 615396 more

Symptoms:

50 (show all 13)
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • stillbirth/neonatal death
  • x-linked recessive inheritance
  • palmoplantar hyperkeratosis/keratoderma
  • abnormal emg/electromyogram/electropmyography
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • cardiomyopathy/hypertrophic/dilated
  • lipoatrophy
  • myopathy
  • sensorineural deafness/hearing loss
  • autosomal dominant inheritance
  • polynuclear cells/neutrophils anomalies/neutropenia

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1w

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiomyopathy, Dilated, 1w

Drug clinical trials:

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Search NIH Clinical Center for Cardiomyopathy, Dilated, 1w

Search CenterWatch for Cardiomyopathy, Dilated, 1w

Genetic Tests for Cardiomyopathy, Dilated, 1w

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Anatomical Context for Cardiomyopathy, Dilated, 1w

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Animal Models for Cardiomyopathy, Dilated, 1w or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1w:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.7RAF1, CRYAB, PRDM16, PSEN1, PSEN2, VCL
2MP:00053889.6LDB3, PSEN1, CSRP3, RAF1, BAG3, PRDM16
3MP:00053849.4BAG3, RAF1, ACTC1, PSEN2, PSEN1, FKTN
4MP:00053819.3PSEN2, CRYAB, PSEN1, LDB3, PRDM16, VCL
5MP:00053869.2TCAP, LDB3, PSEN2, PLN, CRYAB, RAF1
6MP:00053699.2RAF1, VCL, FKTN, BAG3, TCAP, PSEN1
7MP:00053789.1VCL, FKTN, PRDM16, PSEN1, PSEN2, LDB3
8MP:00053769.1PLN, LDB3, BAG3, RAF1, CSRP3, FKTN
9MP:00053859.0FHL2, PLN, ACTC1, PSEN2, PSEN1, LDB3
10MP:00107689.0PSEN1, ACTC1, PRDM16, FKTN, VCL, PSEN2

Publications for Cardiomyopathy, Dilated, 1w

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Variations for Cardiomyopathy, Dilated, 1w

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1w:

65
id Symbol AA change Variation ID SNP ID
1VCLp.Arg975TrpVAR_035105

Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1w:

1
id Gene Name Type Significance SNP ID Assembly Location
1VCLVCL, 3-BP DEL, 2862GTTdeletionPathogenic
2VCLNM_014000.2(VCL): c.2923C> T (p.Arg975Trp)single nucleotide variantPathogenicrs121917776GRCh37Chr 10, 75871844: 75871844

Expression for genes affiliated with Cardiomyopathy, Dilated, 1w

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Dilated, 1w

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1w.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1w

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Sources:
51PathCards, 55R&D Systems, 62Tocris Bioscience, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 54QIAGEN
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Pathways related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PSEN2, PSEN1
210.2PSEN2, PSEN1
3
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
10.1ACTN2, ACTC1, PLN
4
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
10.1PSEN1, RAF1, PSEN2
5
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
10.0VCL, ACTN2, ACTC1, RAF1
6
Show member pathways
9.9VCL, TCAP, ACTN2, ACTC1
7
Show member pathways
9.8RAF1, ACTN2, PSEN2, PSEN1, VCL

Compounds for genes affiliated with Cardiomyopathy, Dilated, 1w

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Sources:
46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1s-1824610.5PSEN2, PSEN1
2dapt6210.5PSEN2, PSEN1
3l-685,4586210.5PSEN1, PSEN2
4begacestat6210.5PSEN2, PSEN1
5jlk 66210.5PSEN2, PSEN1
6mrk 5606210.5PSEN2, PSEN1
7lactacystin4610.3PSEN2, PSEN1, RAF1
8biotin46 25 1212.2PSEN1, PSEN2, ACTC1
9choline46 25 1212.2RAF1, PSEN1, PSEN2
1012-o-tetradecanoylphorbol 13-acetate4610.2PSEN1, RAF1, PSEN2, VCL
11glutamine4610.2VCL, PSEN1, CRYAB, RAF1
12h2o24610.1RAF1, PSEN2, VCL, PSEN1, CRYAB
13valine4610.1RAF1, PSEN2, PSEN1
14aspartate4610.0PSEN1, PSEN2, CRYAB, RAF1
15glucose469.7PSEN2, ACTC1, CRYAB, PSEN1, VCL
16tyrosine469.7ACTC1, PSEN2, PSEN1, VCL, RAF1, FHL2
17calcium46 52 25 1212.7PLN, ACTC1, PSEN1, CRYAB, VCL, ACTN2
18cycloheximide469.7RAF1, PSEN2, VCL, PSEN1

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1w

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17Gene Ontology
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Cellular components related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:03525310.3PSEN1, PSEN2
2pseudopodiumGO:03114310.2LDB3, ACTN2, RAF1
3focal adhesionGO:00592510.0VCL, ACTN2, FHL2
4cytoskeletonGO:0058569.9CSRP3, ACTN2, LDB3, NEXN, VCL
5perinuclear region of cytoplasmGO:0484719.9PLN, PSEN2, PSEN1, LDB3
6I bandGO:0316749.9ACTC1, TCAP
7Golgi apparatusGO:0057949.8FKTN, PSEN1, PSEN2, CRYAB, RAF1
8cytosolGO:0058299.5VCL, TCAP, PSEN2, ACTN2, ACTC1, CRYAB
9Z discGO:0300189.2BAG3, NEXN, TCAP, LDB3, PSEN1, PSEN2

Biological processes related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of coagulationGO:05082010.6PSEN2, PSEN1
2myeloid leukocyte differentiationGO:00257310.6PSEN2, PSEN1
3detection of muscle stretchGO:03599510.6CSRP3, TCAP
4cardiac muscle hypertrophyGO:00330010.5TCAP, CSRP3
5skeletal muscle thin filament assemblyGO:03024010.5TCAP, ACTC1
6endoplasmic reticulum calcium ion homeostasisGO:03246910.5PSEN2, PSEN1
7amyloid precursor protein catabolic processGO:04298710.5PSEN2, PSEN1
8cardiac muscle tissue developmentGO:04873810.5PLN, CSRP3, TAZ
9negative regulation of protein complex assemblyGO:03133310.5RAF1, PSEN2
10beta-amyloid metabolic processGO:05043510.5PSEN2, PSEN1
11anagenGO:04264010.5PSEN1, PSEN2
12muscle contractionGO:00693610.5VCL, CRYAB, TAZ
13cardiac muscle tissue morphogenesisGO:05500810.5TCAP, ACTC1
14cardiac muscle fiber developmentGO:04873910.5TCAP, NEXN
15dorsal/ventral neural tube patterningGO:02190410.5PSEN1, PSEN2
16brain morphogenesisGO:04885410.5PSEN1, PSEN2
17regulation of the force of heart contractionGO:00202610.5CSRP3, PLN
18cardiac myofibril assemblyGO:05500310.5CSRP3, ACTC1, TCAP
19hematopoietic progenitor cell differentiationGO:00224410.5PSEN1, PSEN2
20negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.4PSEN2, RAF1
21cell fate specificationGO:00170810.4PSEN1, PSEN2
22muscle filament slidingGO:03004910.4TCAP, ACTN2, ACTC1
23calcium ion transportGO:00681610.4PSEN1, PSEN2, PLN
24somitogenesisGO:00175610.4TCAP, PSEN1, PSEN2
25T cell activation involved in immune responseGO:00228610.4PSEN1, PSEN2
26heart developmentGO:00750710.3RAF1, TAZ, RBM20
27membrane protein ectodomain proteolysisGO:00650910.3PSEN2, PSEN1
28Notch receptor processingGO:00722010.2PSEN1, PSEN2
29regulation of apoptotic processGO:04298110.2RAF1, ACTN2, NEXN
30cardiac muscle contractionGO:06004810.2TAZ, CSRP3, ACTC1, PSEN2, TCAP
31regulation of synaptic plasticityGO:04816710.2PSEN2, PSEN1
32negative regulation of apoptotic processGO:04306610.1PSEN1, ACTC1, FHL2, CRYAB, RAF1, BAG3
33response to hypoxiaGO:00166610.1RAF1, CRYAB, PSEN2
34sarcomere organizationGO:04521410.0TCAP, LDB3
35protein processingGO:0164859.9PSEN2, PSEN1

Molecular functions related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1titin Z domain bindingGO:07008010.3TCAP, ACTN2
2FATZ bindingGO:05137310.3ACTN2, TCAP
3endopeptidase activityGO:00417510.2PSEN2, PSEN1
4titin bindingGO:03143210.2TCAP, ACTN2
5aspartic-type endopeptidase activityGO:00419010.1PSEN2, PSEN1
6structural constituent of muscleGO:00830710.1CSRP3, ACTN2, TCAP, NEXN
7cadherin bindingGO:0452969.9PSEN1, VCL
8identical protein bindingGO:0428029.9RAF1, CRYAB, FHL2, PLN, ACTN2
9protein bindingGO:0055158.9PSEN1, LDB3, PRDM16, TCAP, VCL, PSEN2

Products for genes affiliated with Cardiomyopathy, Dilated, 1w

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Sources for Cardiomyopathy, Dilated, 1w

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet