MCID: DMD003
MIFTS: 11

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 23 24 66
Cardiomyopathy, Dilated, X-Linked 23 48
Dilated Cardiomyopathy 3b 23 24
Dmd-Related Dilated Cardiomyopathy 24
X-Linked Dilated Cardiomyopathy 24
Cardiomyopathy, Dilated, 2b 66
 
Dmd-Related Dcm 23
Cmd3b 24
Cmd2b 23
Xlcm 24
Xldc 24

Classifications:



Summaries for Dmd-Associated Dilated Cardiomyopathy

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Genetics Home Reference:24 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 cardiomyopathy, dilated, 3b and dmd-related dilated cardiomyopathy. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (Dystrophin). Affiliated tissues include heart.

Related Diseases for Dmd-Associated Dilated Cardiomyopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 3b11.6
2dmd-related dilated cardiomyopathy11.4
3cardiomyopathy, dilated, 2b11.0
4cardiomyopathy, dilated, 1a10.0

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 Cardiomyopathy23 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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

34
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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GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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Sources for Dmd-Associated Dilated Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet