XLCM
MCID: DMD003
MIFTS: 13

Dmd-Associated Dilated Cardiomyopathy (XLCM) malady

Cardiovascular, Muscle categories

Summaries for Dmd-Associated Dilated Cardiomyopathy

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Dmd-Associated Dilated Cardiomyopathy, also known as dmd-related dilated cardiomyopathy, is related to duchenne muscular dystrophy and muscular dystrophy, duchenne and becker types. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (dystrophin). Affiliated tissues include heart.

Description from OMIM:47 302045

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

Sources:
20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Muscle


Aliases & Descriptions:

dmd-associated dilated cardiomyopathy 20 21
dmd-related dilated cardiomyopathy 21
cardiomyopathy, dilated, x-linked 45
x-linked dilated cardiomyopathy 21
muscular dystrophy, duchenne 61
cardiomyopathy, dilated, 3b 47
dilated cardiomyopathy 3b 21
cmd3b 21
xldc 21
xlcm 21


Related Diseases for Dmd-Associated Dilated Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Dmd-Associated Dilated Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy11.0
2muscular dystrophy, duchenne and becker types10.8
3becker muscular dystrophy10.6
4dmd-related dilated cardiomyopathy10.5

Clinical Features for Dmd-Associated Dilated Cardiomyopathy

Sources:
47OMIM
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Clinical features from OMIM:

302045

Clinical synopsis from OMIM:

302045

Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Dmd-Associated Dilated Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Dmd-Associated Dilated Cardiomyopathy

Search NIH Clinical Center for Dmd-Associated Dilated Cardiomyopathy

Search CenterWatch for Dmd-Associated Dilated Cardiomyopathy

Genetic Tests for Dmd-Associated Dilated Cardiomyopathy

Sources:
20GeneTests
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Genetic tests related to Dmd-Associated Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-associated Dilated Cardiomyopathy20 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

Sources:
33MalaCards
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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

Sources:
28inGenious Targeting Laboratory
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Publications for Dmd-Associated Dilated Cardiomyopathy

Genetic Variations for Dmd-Associated Dilated Cardiomyopathy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

63
id Symbol AA change Variation SNP ID
1DMDp.Lys18AsnVAR_023537
2DMDp.Thr279AlaVAR_023540
3DMDp.Asn1672LysVAR_023542rs16990264
4DMDp.Phe3228LeuVAR_023544

Expression for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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

Pathways for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

Compounds for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

Products for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dmd-Associated Dilated Cardiomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet