XLCM
MCID: DMD003
MIFTS: 19

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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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 cardiomyopathy, dilated, x-linked, is related to dilated cardiomyopathy and dmd-related dilated cardiomyopathy, and has symptoms including An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (dystrophin). Affiliated tissues include heart.

Description from OMIM:46 302045

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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Dmd-Associated Dilated Cardiomyopathy, Aliases & Descriptions:

Name: Dmd-Associated Dilated Cardiomyopathy 20 21
Cardiomyopathy, Dilated, X-Linked 44 62
Dilated Cardiomyopathy 3b 21 62
Dmd-Related Dilated Cardiomyopathy 21
X-Linked Dilated Cardiomyopathy 21
 
Muscular Dystrophy, Duchenne 62
Cardiomyopathy, Dilated, 3b 46
Cmd3b 21
Xldc 21
Xlcm 21


Classifications:



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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy10.9
2dmd-related dilated cardiomyopathy10.5
3neutropenia10.3
4dystrophinopathies10.3

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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Symptoms by clinical synopsis from OMIM:

302045

Clinical features from OMIM:

302045

HPO human phenotypes related to Dmd-Associated Dilated Cardiomyopathy:

id Description Frequency HPO Source Accession
1 x-linked inheritance HP:0001417
2 dilated cardiomyopathy HP:0001644

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

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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

32
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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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:

6 (show all 25)
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.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
8DMDDMD, EX1DELdeletionPathogenic
9DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
10DMDDMD, IVS1, G-T, +1single nucleotide variantPathogenic
11DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
12DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
13DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
14DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
15DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
16DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
17DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
18DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
19DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
20DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
21DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
22DMDNM_004006.2(DMD): c.835A> G (p.Thr279Ala)single nucleotide variantPathogenicrs128627255GRCh37Chr X, 32716112: 32716112
23DMDDMD, ALU INSinsertionPathogenic
24DMDDMD, 16-BP DELdeletionPathogenic
25DMDNM_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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Expression patterns in normal tissues for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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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

Sources for Dmd-Associated Dilated Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet