MCID: DMD003
MIFTS: 18

Dmd-Associated Dilated Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Dmd-Associated Dilated Cardiomyopathy

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Aliases & Descriptions for Dmd-Associated Dilated Cardiomyopathy:

Name: Dmd-Associated Dilated Cardiomyopathy 24 25 67
Cardiomyopathy, Dilated, X-Linked 24 49
Dilated Cardiomyopathy 3b 24 25
Dmd-Related Dilated Cardiomyopathy 25
X-Linked Dilated Cardiomyopathy 25
Cardiomyopathy, Dilated, 2b 67
 
Dmd-Related Dcm 24
Cmd3b 25
Cmd2b 24
Xlcm 25
Xldc 25

Classifications:



Summaries for Dmd-Associated Dilated Cardiomyopathy

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Genetics Home Reference:25 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 dmd-related dilated cardiomyopathy and cardiomyopathy, dilated, 3b. An important gene associated with Dmd-Associated Dilated Cardiomyopathy is DMD (Dystrophin). Affiliated tissues include heart.

Related Diseases for Dmd-Associated Dilated Cardiomyopathy

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



Diseases related to dmd-associated dilated cardiomyopathy

Symptoms for Dmd-Associated Dilated Cardiomyopathy

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Drugs & Therapeutics for Dmd-Associated Dilated Cardiomyopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Becker-Heart-StudyRecruitingNCT02020954

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 Cardiomyopathy24 DMD

Anatomical Context for Dmd-Associated Dilated Cardiomyopathy

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

35
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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Clinvar genetic disease variations for Dmd-Associated Dilated Cardiomyopathy:

5 (show all 122)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)SNVPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
2DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)SNVPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
3DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)SNVPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
4DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)SNVPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
5DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)SNVPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
6DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)SNVPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
7DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)SNVPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
8DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)SNVPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
9DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)SNVPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
10DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)SNVPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
11DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)SNVPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
12DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)SNVPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
13DMDNM_004006.2(DMD): c.9164-1G> CSNVPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
14DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)SNVPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
15DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)SNVPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
16DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)SNVPathogenicrs727503836GRCh38Chr X, 32454733: 32454733
17DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)SNVPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
18DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)SNVPathogenicrs727503850GRCh38Chr X, 32484967: 32484967
19DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)SNVPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
20DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)SNVPathogenicrs727503864GRCh38Chr X, 32697947: 32697947
21DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
22DMDNM_004006.2(DMD): c.2804-2A> TSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
23DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)SNVPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
24DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh37Chr X, 32361293: 32361293
25DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
26DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)SNVPathogenicrs754896795GRCh37Chr X, 31893421: 31893421
27DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)SNVPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
28DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
29DMDNM_004006.2(DMD): c.10554-2A> GSNVPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
30DMDNM_004006.2(DMD): c.31+36947G> ASNVPathogenicrs886042106GRCh37Chr X, 33192452: 33192452
31DMDNM_004006.2(DMD): c.10279C> T (p.Gln3427Ter)SNVPathogenicrs886042691GRCh37Chr X, 31191705: 31191705
32DMDNM_004006.2(DMD): c.5140G> T (p.Glu1714Ter)SNVPathogenicrs886042747GRCh37Chr X, 32382713: 32382713
33DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)SNVPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
34DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)SNVPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
35DMDNM_004006.2(DMD): c.10086+1G> ASNVPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
36DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)SNVPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
37DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)SNVPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
38DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)SNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
39DMDNM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
40DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
41DMDNM_004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
42DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)SNVPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
43DMDNM_004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
44DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)SNVPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
45DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
46DMDNM_004006.2(DMD): c.1332-9A> GSNVPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
47DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
48DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
49DMDNM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
50DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)SNVPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
51DMDNM_004006.2(DMD): c.1482+1G> TSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
52DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
53DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)SNVPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
54DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)SNVPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
55DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)SNVPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
56DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)SNVPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
57DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
58DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
59DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)SNVPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
60DMDNM_004006.2(DMD): c.2380+1G> CSNVPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
61DMDNM_004006.2(DMD): c.2381-1G> TSNVPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
62DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)SNVPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
63DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
64DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)SNVPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
65DMDNM_004006.2(DMD): c.2804-1G> ASNVPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
66DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)SNVPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
67DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
68DMDNM_004006.2(DMD): c.31+1G> TSNVPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
69DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)SNVPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
70DMDNM_004006.2(DMD): c.3276+1G> ASNVPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
71DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)SNVPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
72DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)SNVPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
73DMDNM_004006.2(DMD): c.3432+1G> ASNVPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
74DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)SNVPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
75DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
76DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
77DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
78DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)SNVPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
79DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
80DMDNM_004006.2(DMD): c.4375C> T (p.Arg1459Ter)SNVPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
81DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
82DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
83DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
84DMDNM_004006.2(DMD): c.4843A> T (p.Lys1615Ter)SNVPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
85DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
86DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)SNVPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
87DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)SNVPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
88DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)SNVPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
89DMDNM_004006.2(DMD): c.5773G> T (p.Glu1925Ter)SNVPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
90DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)SNVPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
91DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
92DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)SNVPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
93DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)SNVPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
94DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)SNVPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
95DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
96DMDNM_004006.2(DMD): c.6391_6392delCA (p.Gln2131Asnfs)deletionPathogenicrs398124012GRCh37Chr X, 32235079: 32235080
97DMDNM_004006.2(DMD): c.6392_6393insCA (p.Gln2131Hisfs)insertionPathogenicrs398124013GRCh37Chr X, 32235078: 32235079
98DMDNM_004006.2(DMD): c.649+1G> ASNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
99DMDNM_004006.2(DMD): c.676_678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
100DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)SNVPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
101DMDNM_004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
102DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)SNVPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
103DMDNM_004006.2(DMD): c.7309+1G> ASNVPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
104DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)SNVPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
105DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)SNVPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
106DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)SNVPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
107DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)SNVPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
108DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
109DMDNM_004006.2(DMD): c.8069T> G (p.Leu2690Ter)SNVPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
110DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
111DMDNM_004006.2(DMD): c.8443C> T (p.Gln2815Ter)SNVPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
112DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)SNVPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
113DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
114DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
115DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
116DMDNM_004006.2(DMD): c.9225-647A> GSNVPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
117DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)SNVPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
118DMDNM_004006.2(DMD): c.9361+1G> ASNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
119DMDNM_004006.2(DMD): c.9361+1G> CSNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
120DMDNM_004006.2(DMD): c.9564-1G> ASNVPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
121DMDNM_004006.2(DMD): c.9650-2A> GSNVPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
122DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)SNVPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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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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GO Terms for genes affiliated with Dmd-Associated Dilated Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.5DMD, SGCA
2dystrophin-associated glycoprotein complexGO:00160109.5DMD, SGCA
3membrane raftGO:00451219.3DMD, SGCA
4cytoskeletonGO:00058569.0DMD, SGCA

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.2DMD, SGCA
2muscle contractionGO:00069369.1SGCA, TAZ
3skeletal muscle tissue developmentGO:00075199.0DMD, TAZ
4cardiac muscle contractionGO:00600488.7DMD, TAZ

Sources for Dmd-Associated Dilated Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet