MCID: DMD003
MIFTS: 17

Dmd-Associated Dilated Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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Dmd-Associated Dilated Cardiomyopathy, Aliases & Descriptions:

Name: Dmd-Associated Dilated Cardiomyopathy 20 21 60
Dilated Cardiomyopathy 3b 21 22
Dmd-Related Dilated Cardiomyopathy 21
Cardiomyopathy, Dilated, X-Linked 43
X-Linked Dilated Cardiomyopathy 21
 
Muscular Dystrophy, Duchenne 60
Cmd3b 21
Xlcm 21
Xldc 21


Classifications:



Summaries for Dmd-Associated Dilated Cardiomyopathy

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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 based summary: Dmd-Associated Dilated Cardiomyopathy, also known as dilated cardiomyopathy 3b, is related to dilated cardiomyopathy 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
1dilated cardiomyopathy10.9
2dmd-related dilated cardiomyopathy10.6
3neutropenia10.3
4dystrophinopathies10.3

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Dmd-Associated Dilated Cardiomyopathy

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 Cardiomyopathy20 DMD
2 Dilated Cardiomyopathy 3b22

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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

31
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:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)single nucleotide variantPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)single nucleotide variantPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
5DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
6DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
7DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
8DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
9DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
10DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
11DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
12DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
13DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
14DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
15DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
16DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
17DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
18DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
19DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
20DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
21DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)single nucleotide variantPathogenicrs128627257GRCh37Chr X, 32328331: 32328331

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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Compounds 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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Products for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dmd-Associated Dilated Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet