MCID: DMD004
MIFTS: 14

Dmd-Related Dilated Cardiomyopathy malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Dmd-Related Dilated Cardiomyopathy

Aliases & Descriptions for Dmd-Related Dilated Cardiomyopathy:

Name: Dmd-Related Dilated Cardiomyopathy 12 24
Dmd-Associated Dilated Cardiomyopathy 42 69
Dilated Cardiomyopathy 3b 24
Cmd3b 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0060561
MeSH 42 C580047

Summaries for Dmd-Related Dilated Cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutations in the DMD gene.

MalaCards based summary : Dmd-Related Dilated Cardiomyopathy, also known as dmd-associated dilated cardiomyopathy, is related to dmd-associated dilated cardiomyopathy and cardiomyopathy, dilated, 3b. An important gene associated with Dmd-Related Dilated Cardiomyopathy is DMD (Dystrophin).

Related Diseases for Dmd-Related Dilated Cardiomyopathy

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Dmd-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dmd-associated dilated cardiomyopathy 11.2
2 cardiomyopathy, dilated, 3b 11.2

Symptoms & Phenotypes for Dmd-Related Dilated Cardiomyopathy

Drugs & Therapeutics for Dmd-Related 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-Related Dilated Cardiomyopathy

Cochrane evidence based reviews: dmd-associated dilated cardiomyopathy

Genetic Tests for Dmd-Related Dilated Cardiomyopathy

Genetic tests related to Dmd-Related Dilated Cardiomyopathy:

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

Anatomical Context for Dmd-Related Dilated Cardiomyopathy

Publications for Dmd-Related Dilated Cardiomyopathy

Variations for Dmd-Related Dilated Cardiomyopathy

ClinVar genetic disease variations for Dmd-Related 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-Related Dilated Cardiomyopathy

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

Pathways for Dmd-Related Dilated Cardiomyopathy

GO Terms for Dmd-Related Dilated Cardiomyopathy

Sources for Dmd-Related 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
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