XLCM
MCID: DMD003
MIFTS: 17

Dmd-Associated Dilated Cardiomyopathy (XLCM) malady

Genetic diseases (common), Cardiovascular diseases, Muscle diseases categories
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Summaries for Dmd-Associated Dilated Cardiomyopathy

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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 dilated cardiomyopathy and dmd-related dilated cardiomyopathy. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (dystrophin).

Description from OMIM:47 302045

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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62UMLS, 21Genetics Home Reference, 20GeneTests, 47OMIM, 45Novoseek
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Classifications:



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 62
cardiomyopathy, dilated, 3b 47
dilated cardiomyopathy 3b 21
cmd3b 21
xlcm 21
xldc 21


Related Diseases for Dmd-Associated Dilated Cardiomyopathy

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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
1dilated cardiomyopathy10.9
2dmd-related dilated cardiomyopathy10.5
3neutropenia10.2
4dystrophinopathies10.2

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

302045

Clinical features from OMIM:

302045

Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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

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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

64
id Symbol AA change Variation ID SNP ID
1DMDp.Lys18AsnVAR_023537
2DMDp.Thr279AlaVAR_023540
3DMDp.Asn1672LysVAR_023542rs16990264
4DMDp.Phe3228LeuVAR_023544

Clinvar genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

1 (show all 40)
id Gene Name 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.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
6DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
7DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
8DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
9DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
10DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
11DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
12DMDDMD, EX1DELdeletionPathogenic
13DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
14DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
15DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
16DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
17DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
18DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)single nucleotide variantPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
19DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
20DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
21DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
22DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
23DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
24DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
25DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
26DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
27DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
28DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
29DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
30DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
31DMDNM_004006.2(DMD): c.8729A> T (p.Glu2910Val)single nucleotide variantBenign, Pathogenicrs41305353GRCh37Chr X, 31496431: 31496431
32DMDNM_004006.2(DMD): c.8734A> G (p.Asn2912Asp)single nucleotide variantBenign, Pathogenicrs1800278GRCh37Chr X, 31496426: 31496426
33DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
34DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
35DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
36DMDDMD, ALU INSinsertionPathogenic
37DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
38DMDDMD, 16-BP DELdeletionPathogenic
39DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
40DMDNM_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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2BioGPS, 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

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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

Sources for Dmd-Associated Dilated Cardiomyopathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet