XLCM
MCID: DMD003
MIFTS: 17

Dmd-Associated Dilated Cardiomyopathy (XLCM) malady

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

Summaries for Dmd-Associated Dilated Cardiomyopathy

About this section
Sources:
22Genetics Home Reference, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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:48 302045

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

About this section
Sources:
63UMLS, 22Genetics Home Reference, 21GeneTests, 48OMIM, 46Novoseek
See all sources

Classifications:



Aliases & Descriptions:

dmd-associated dilated cardiomyopathy 21 22
dmd-related dilated cardiomyopathy 22
cardiomyopathy, dilated, x-linked 46
x-linked dilated cardiomyopathy 22
muscular dystrophy, duchenne 63
cardiomyopathy, dilated, 3b 48
dilated cardiomyopathy 3b 22
cmd3b 22
xlcm 22
xldc 22


Related Diseases for Dmd-Associated Dilated Cardiomyopathy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

302045

Clinical features from OMIM:

302045

Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Dmd-Associated Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-Associated Dilated Cardiomyopathy21 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

About this section

Animal Models for Dmd-Associated Dilated Cardiomyopathy or affiliated genes

About this section

Publications for Dmd-Associated Dilated Cardiomyopathy

About this section

Variations for Dmd-Associated Dilated Cardiomyopathy

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

About this section

GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

About this section

Products for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dmd-Associated Dilated Cardiomyopathy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet