MCID: CRD092
MIFTS: 45

Cardiomyopathy, Dilated, 1w malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Cardiomyopathy, Dilated, 1w

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46OMIM, 32MalaCards
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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 cardiomyopathy/hypertrophic/dilated, x-linked recessive inheritance and x-linked dominant inheritance. An important gene associated with Cardiomyopathy, Dilated, 1w is VCL (vinculin), and among its related pathways are Amoebiasis and Platelet degranulation . The compounds actomyosin and rhodamine have been mentioned in the context of this disorder. Related mouse phenotypes are growth/size and cardiovascular system.

Description from OMIM:46 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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Sources:
46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
familial isolated dilated cardiomyopathy 48 46
familial or idiopathic dilated cardiomyopathy 48


Related Diseases for Cardiomyopathy, Dilated, 1w

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy30.6TTN, MYBPC3, MYH7, TAZ, PLN, TCAP
2vcl-related dilated cardiomyopathy10.3
3nemaline myopathy10.0ACTC1
4myocardial infarction10.0LDB3, VCL
5endocardial fibroelastosis10.0ACTN2, TAZ
6myofibrillar myopathy10.0LDB3, BAG3
7limb-girdle muscular dystrophy type 2h10.0TTN, TCAP
8limb-girdle muscular dystrophy type 2e10.0TCAP, TTN
9limb-girdle muscular dystrophy, type 2g10.0TTN, TCAP
10limb-girdle muscular dystrophy, type 1a10.0TCAP, TTN
11hypertrophic cardiomyopathy10.0MYH7, MYBPC3
12muscular dystrophy-dystroglycanopathy , type c, 510.0TCAP, TTN
13limb-girdle muscular dystrophy type 2f10.0TTN, TCAP
14limb-girdle muscular dystrophy, type 2b10.0TCAP, TTN
15becker muscular dystrophy10.0VCL, FKTN
16distal muscular dystrophy10.0TTN, MYH7
17limb-girdle muscular dystrophy10.0TCAP, FKTN, TTN
18sudden cardiac death multi-gene panels10.0MYBPC3, TPM1, MYH7
19calpainopathy10.0TTN, TCAP
20ischemia10.0VCL, MYH7, TTN
21barth syndrome10.0TAZ, LDB3
22neuromuscular disease10.0ACTN2, VCL, TCAP, TMPO, TTN
23duchenne muscular dystrophy10.0SGCD, TTN, TCAP, FKTN, VCL
24muscular dystrophy10.0ACTN2, SGCD, FKTN, TCAP, TTN
25congenital heart defect10.0MYH7, MYBPC3, TTN
26rhabdomyosarcoma10.0TTN, ACTC1, VCL
27myopathy congenital10.0TTN, MYH7
28diastolic heart failure10.0TTN
29neuropathy10.0SGCD, TTN, FKTN
30hypertrophy of breast10.0VCL, MYBPC3, MYH7, TTN, PLN, TPM1
31familial hypertrophic cardiomyopathy10.0TPM1, ACTC1, TCAP, TTN, MYH7, MYBPC3
32myopathy10.0TPM1, LDB3, SGCD, TCAP, TTN, TAZ
33noonan syndrome10.0MYH7, MYBPC3, DSG2, TAZ, TTN, VCL

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



Diseases related to cardiomyopathy, dilated, 1w

Clinical Features for Cardiomyopathy, Dilated, 1w

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Sources:
46OMIM, 48Orphanet
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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:

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

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1w

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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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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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36MGI
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MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1w:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053789.1FKTN, MYBPC3, ABCC9, TTN, ACTC1, LAMA4
2MP:00053858.9PLN, TTN, ABCC9, MYBPC3, BAG3, TCAP
3MP:00053698.8LDB3, BAG3, FKTN, MYBPC3, ABCC9, TTN
4MP:00107688.7TTN, ABCC9, FKTN, BAG3, DSG2, PLN
5MP:00053768.6BAG3, FKTN, MYBPC3, ABCC9, TTN, PLN

Publications for Cardiomyopathy, Dilated, 1w

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Genetic Variations for Cardiomyopathy, Dilated, 1w

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Dilated, 1w:

62
id Symbol AA change Variation ID SNP ID
1VCLp.Arg975TrpVAR_035105

Expression for genes affiliated with Cardiomyopathy, Dilated, 1w

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Sources:
1BioGPS, 15Gene 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:
29KEGG, 53Reactome, 12EMD Millipore, 4Cell Signaling Technology, 37NCBI BioSystems Database
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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1w

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin449.9MYH7, TTN, ACTC1
2rhodamine449.9VCL, TTN
3atp44 2810.6VCL, TTN, ABCC9, TAZ, MYH7, MYBPC3
4calcium44 49 11 2412.1TPM1, DSG2, MYPN, MYH7, TTN, PLN

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

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16Gene Ontology
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Cellular components related to Cardiomyopathy, Dilated, 1w according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pseudopodiumGO:03114310.1LDB3, ACTN2
2sarcolemmaGO:04238310.1VCL, SGCD, ABCC9
3I bandGO:03167410.0ACTC1, TCAP, TTN, MYPN
4cytoskeletonGO:00585610.0ACTN2, SGCD, VCL, LDB3, TPM1
5sarcomereGO:0300179.9MYBPC3, MYH7, ABCC9, ACTC1, TPM1
6focal adhesionGO:0059259.8MYH7, ACTN2, VCL
7Z discGO:0300189.5LDB3, BAG3, MYPN, MYH7, TTN, TCAP
8cytosolGO:0058299.4TPM1, VCL, ACTN2, ACTC1, TCAP, TTN

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle myosin thick filament assemblyGO:03024110.4TCAP, TTN
2detection of muscle stretchGO:03599510.4TCAP, TTN
3sarcomerogenesisGO:04876910.4TCAP, TTN
4skeletal muscle thin filament assemblyGO:03024010.4ACTC1, TCAP, TTN
5cardiac muscle tissue morphogenesisGO:05500810.3TTN, TCAP, ACTC1
6cardiac muscle hypertrophyGO:00330010.3TTN, TCAP
7cardiac myofibril assemblyGO:05500310.3TTN, TCAP, ACTC1
8adult heart developmentGO:00751210.3TCAP, TTN, MYH7
9ventricular cardiac muscle tissue morphogenesisGO:05501010.3MYBPC3, MYH7, TPM1
10cardiac muscle fiber developmentGO:04873910.3TCAP, TTN
11regulation of heart rateGO:00202710.1MYH7, MYBPC3
12muscle contractionGO:00693610.1MYH7, TAZ, TTN, VCL, TPM1
13platelet degranulationGO:00257610.1TTN, ACTN2, VCL
14cardiac muscle tissue developmentGO:04873810.1PLN, TAZ
15sarcomere organizationGO:04521410.0MYPN, MYBPC3, TTN, TCAP, LDB3, TPM1
16cardiac muscle contractionGO:0600489.9MYBPC3, TAZ, TTN, TCAP, ACTC1, TPM1
17positive regulation of ATPase activityGO:0327819.9TPM1, MYBPC3
18cell adhesionGO:0071559.9VCL, LAMA4, ACTN2, MYBPC3, DSG2
19muscle filament slidingGO:0300499.8TPM1, MYBPC3, MYH7, TTN, TCAP, ACTC1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1titin Z domain bindingGO:07008010.3ACTN2, TCAP
2muscle alpha-actinin bindingGO:05137110.2MYPN, TTN, LDB3
3myosin bindingGO:01702210.2ACTC1, MYBPC3
4titin bindingGO:03143210.2MYBPC3, TCAP, ACTN2
5FATZ bindingGO:05137310.1ACTN2, TCAP
6cytoskeletal protein bindingGO:00809210.1TPM1, LDB3, ACTN2, MYPN
7structural constituent of muscleGO:0083079.8TPM1, ACTN2, TCAP, TTN, MYH7, MYBPC3
8actin bindingGO:0037799.8MYPN, MYBPC3, MYH7, VCL, TPM1
9ion channel bindingGO:0443259.8ACTN2, TCAP, ABCC9

Products for genes affiliated with Cardiomyopathy, Dilated, 1w

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Dilated, 1w

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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