MCID: DMD003
MIFTS: 21

Dmd-Associated Dilated Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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Aliases & Descriptions for Dmd-Associated Dilated Cardiomyopathy:

Name: Dmd-Associated Dilated Cardiomyopathy 22 23 65
Cardiomyopathy, Dilated, X-Linked 22 47
Dilated Cardiomyopathy 3b 22 23
Dmd-Related Dilated Cardiomyopathy 23
X-Linked Dilated Cardiomyopathy 23
Cardiomyopathy, Dilated, 2b 65
 
Dmd-Related Dcm 22
Cmd3b 23
Cmd2b 22
Xlcm 23
Xldc 23

Classifications:



External Ids:

UMLS65 C3553409, C3668940

Summaries for Dmd-Associated Dilated Cardiomyopathy

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Genetics Home Reference:23 DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with DMD-associated dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.

MalaCards based summary: Dmd-Associated Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, x-linked, is related to dmd-related dilated cardiomyopathy and cardiomyopathy, dilated, 3b. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (Dystrophin), and among its related pathways is Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart.

Related Diseases for Dmd-Associated Dilated Cardiomyopathy

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Graphical network of diseases related to Dmd-Associated Dilated Cardiomyopathy:



Diseases related to dmd-associated dilated cardiomyopathy

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Becker-Heart-StudyRecruitingNCT02020954

Search NIH Clinical Center for Dmd-Associated Dilated Cardiomyopathy

Genetic Tests for Dmd-Associated Dilated Cardiomyopathy

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Genetic tests related to Dmd-Associated Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-Associated Dilated Cardiomyopathy22 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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MalaCards organs/tissues related to Dmd-Associated Dilated Cardiomyopathy:

33
Heart

Animal Models for Dmd-Associated Dilated Cardiomyopathy or affiliated genes

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Publications for Dmd-Associated Dilated Cardiomyopathy

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Variations for Dmd-Associated Dilated Cardiomyopathy

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Clinvar genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
2DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
3DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398

Expression for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Dmd-Associated Dilated Cardiomyopathy.

Pathways for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Pathways related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3DMD, SGCA

GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Cellular components related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:00160109.3DMD, SGCA

Biological processes related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:00600489.0DMD, TAZ
2skeletal muscle tissue developmentGO:00075198.7DMD, TAZ

Sources for Dmd-Associated 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