XLCM
MCID: DMD003
MIFTS: 18

Dmd-Associated Dilated Cardiomyopathy (XLCM) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

Aliases & Descriptions for Dmd-Associated Dilated Cardiomyopathy:

Name: Dmd-Associated Dilated Cardiomyopathy 24 25 69
Cardiomyopathy, Dilated, X-Linked 24 52
Dilated Cardiomyopathy 3b 24 25
Dmd-Related Dilated Cardiomyopathy 25
X-Linked Dilated Cardiomyopathy 25
Cardiomyopathy, Dilated, 2b 69
Dmd-Related Dcm 24
Cmd2b 24
Cmd3b 25
Xlcm 25
Xldc 25

Classifications:



Summaries for Dmd-Associated Dilated Cardiomyopathy

MalaCards based summary : Dmd-Associated Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, x-linked, is related to dmd-related dilated cardiomyopathy and cardiomyopathy, dilated, 3b. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (Dystrophin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy.

Related Diseases for Dmd-Associated Dilated Cardiomyopathy

Graphical network of the top 20 diseases related to Dmd-Associated Dilated Cardiomyopathy:



Diseases related to Dmd-Associated Dilated Cardiomyopathy

Symptoms & Phenotypes for Dmd-Associated Dilated Cardiomyopathy

Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

Interventional clinical trials:


id Name Status NCT ID Phase
1 Prospective Becker-Heart-Study Unknown status NCT02020954

Search NIH Clinical Center for Dmd-Associated Dilated Cardiomyopathy

Genetic Tests for Dmd-Associated Dilated Cardiomyopathy

Genetic tests related to Dmd-Associated Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Dmd-Associated Dilated Cardiomyopathy 24 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

Publications for Dmd-Associated Dilated Cardiomyopathy

Variations for Dmd-Associated Dilated Cardiomyopathy

ClinVar genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

6 (show top 50) (show all 223)
id Gene Variation Type Significance SNP ID Assembly Location
1 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh37 Chromosome X, 31462738: 31462738
2 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
3 DMD NM_004006.2(DMD): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs201366610 GRCh37 Chromosome X, 32519950: 32519950
4 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
5 DMD DMD, EX1DEL deletion Pathogenic
6 DMD DMD, IVS1, G-T, +1 single nucleotide variant Pathogenic
7 DMD NM_004006.2(DMD): c.1952G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs128626242 GRCh37 Chromosome X, 32583859: 32583859
8 DMD NM_004006.2(DMD): c.3121C> T (p.Gln1041Ter) single nucleotide variant Pathogenic rs128626245 GRCh37 Chromosome X, 32486656: 32486656
9 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
10 DMD NM_004006.2(DMD): c.6292C> T (p.Arg2098Ter) single nucleotide variant Pathogenic rs128626250 GRCh37 Chromosome X, 32235179: 32235179
11 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
12 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh37 Chromosome X, 31196868: 31196868
13 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh37 Chromosome X, 32716112: 32716112
14 DMD DMD, ALU INS insertion Pathogenic
15 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
16 DMD DMD, 16-BP DEL deletion Pathogenic
17 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
18 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
19 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
20 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
21 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
22 DMD NM_004006.2(DMD): c.10167delT (p.Arg3391Glufs) deletion Pathogenic rs398123831 GRCh37 Chromosome X, 31196842: 31196842
23 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
24 DMD NM_004006.2(DMD): c.10192C> T (p.Gln3398Ter) single nucleotide variant Pathogenic rs398123833 GRCh37 Chromosome X, 31196817: 31196817
25 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
26 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh37 Chromosome X, 31196053: 31196053
27 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh37 Chromosome X, 31187666: 31187667
28 DMD NM_004006.2(DMD): c.10453_10454delCT (p.Leu3485Glufs) deletion Pathogenic rs398123838 GRCh37 Chromosome X, 31187659: 31187660
29 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh37 Chromosome X, 31187659: 31187659
30 DMD NM_004006.2(DMD): c.199G> T (p.Gly67Ter) single nucleotide variant Pathogenic rs398123871 GRCh37 Chromosome X, 32862965: 32862965
31 DMD NM_004006.2(DMD): c.1048G> T (p.Glu350Ter) single nucleotide variant Pathogenic rs398123840 GRCh37 Chromosome X, 32663182: 32663182
32 DMD NM_004006.2(DMD): c.10602dupA (p.Gly3535Argfs) duplication Pathogenic rs398123842 GRCh37 Chromosome X, 31165587: 31165587
33 DMD NM_004006.2(DMD): c.10625delC (p.Pro3542Leufs) deletion Pathogenic rs398123844 GRCh37 Chromosome X, 31165564: 31165564
34 DMD NM_004006.2(DMD): c.10774delA (p.Arg3592Glyfs) deletion Pathogenic rs398123845 GRCh37 Chromosome X, 31165415: 31165415
35 DMD NM_004006.2(DMD): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs398123852 GRCh37 Chromosome X, 32662319: 32662319
36 DMD NM_004006.2(DMD): c.1286C> A (p.Ser429Ter) single nucleotide variant Pathogenic rs398123853 GRCh37 Chromosome X, 32662294: 32662294
37 DMD NM_004006.2(DMD): c.1306dupG (p.Val436Glyfs) duplication Pathogenic rs398123854 GRCh37 Chromosome X, 32662274: 32662274
38 DMD NM_004006.2(DMD): c.1332-9A> G single nucleotide variant Pathogenic rs72468700 GRCh37 Chromosome X, 32632579: 32632579
39 DMD NM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs) duplication Pathogenic rs398123856 GRCh37 Chromosome X, 32632560: 32632561
40 DMD NM_004006.2(DMD): c.1371delG (p.Glu459Serfs) deletion Pathogenic rs398123857 GRCh37 Chromosome X, 32632531: 32632531
41 DMD NM_004006.2(DMD): c.137A> T (p.Asp46Val) single nucleotide variant Pathogenic rs398123858 GRCh37 Chromosome X, 32867894: 32867894
42 DMD NM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs) duplication Pathogenic rs398123859 GRCh37 Chromosome X, 32867893: 32867894
43 DMD NM_004006.2(DMD): c.1465C> T (p.Gln489Ter) single nucleotide variant Pathogenic rs398123861 GRCh37 Chromosome X, 32632437: 32632437
44 DMD NM_004006.2(DMD): c.1482+1G> T single nucleotide variant Pathogenic rs398123862 GRCh37 Chromosome X, 32632419: 32632419
45 DMD NM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs) deletion Pathogenic rs398123863 GRCh37 Chromosome X, 32613946: 32613947
46 DMD NM_004006.2(DMD): c.160_162delCTC (p.Leu54del) deletion Pathogenic rs398123864 GRCh37 Chromosome X, 32867869: 32867871
47 DMD NM_004006.2(DMD): c.1615C> T (p.Arg539Ter) single nucleotide variant Pathogenic rs398123865 GRCh37 Chromosome X, 32591951: 32591951
48 DMD NM_004006.2(DMD): c.1734delA (p.Glu579Lysfs) deletion Pathogenic rs398123866 GRCh37 Chromosome X, 32591725: 32591725
49 DMD NM_004006.2(DMD): c.1886C> A (p.Ser629Ter) single nucleotide variant Pathogenic rs398123867 GRCh37 Chromosome X, 32583925: 32583925
50 DMD NM_004006.2(DMD): c.1900A> T (p.Lys634Ter) single nucleotide variant Pathogenic rs398123868 GRCh37 Chromosome X, 32583911: 32583911

Expression for Dmd-Associated Dilated Cardiomyopathy

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

Pathways for Dmd-Associated Dilated Cardiomyopathy

Pathways related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 DMD SGCA
2
Show member pathways
10.86 DMD SGCA

GO Terms for Dmd-Associated Dilated Cardiomyopathy

Cellular components related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.16 DMD SGCA
2 sarcolemma GO:0042383 8.96 DMD SGCA
3 dystrophin-associated glycoprotein complex GO:0016010 8.62 DMD SGCA

Biological processes related to Dmd-Associated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 SGCA TAZ
2 muscle organ development GO:0007517 9.32 DMD SGCA
3 skeletal muscle tissue development GO:0007519 9.26 DMD TAZ
4 cardiac muscle contraction GO:0060048 9.16 DMD TAZ
5 skeletal muscle tissue regeneration GO:0043403 8.96 DMD SGCA
6 response to denervation involved in regulation of muscle adaptation GO:0014894 8.62 DMD SGCA

Sources for Dmd-Associated Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....