CMD3B
MCID: CRD187
MIFTS: 48

Cardiomyopathy, Dilated, 3b (CMD3B)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 3b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 3b:

Name: Cardiomyopathy, Dilated, 3b 58 13
X-Linked Dilated Cardiomyopathy 12 26 76 15
Dilated Cardiomyopathy 3b 12 26 30 6
Cmd3b 58 12 26 76
Dmd-Associated Dilated Cardiomyopathy 26 45 74
Xlcm 58 26 76
Dmd-Related Dilated Cardiomyopathy 12 26
Cardiomyopathy, Dilated, X-Linked 58 56
Cardiomyopathy, Dilated, X-Linked; Xlcm 58
Cardiomyopathy, Dilated, X-Linked 3b 76
Cardiomyopathy, Dilated, Type 3b 41
Xldc 26

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
cardiomyopathy, dilated, 3b:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110461
OMIM 58 302045
ICD10 34 I42.0
SNOMED-CT via HPO 70 195021004 263934009 399020009
UMLS 74 C3668940

Summaries for Cardiomyopathy, Dilated, 3b

Genetics Home Reference : 26 X-linked dilated cardiomyopathy is a form of heart disease. 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 X-linked 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 : Cardiomyopathy, Dilated, 3b, also known as x-linked dilated cardiomyopathy, is related to atrial standstill 1 and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 3b is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and bone, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting.

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated, X-linked 3B: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Description from OMIM: 302045

Related Diseases for Cardiomyopathy, Dilated, 3b

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 3b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 30.4 DMD TAZ
2 dilated cardiomyopathy 30.2 DMD SGCA SGCD TAZ
3 muscular dystrophy, becker type 30.0 DMD SGCA
4 muscular dystrophy 29.7 DMD SGCA SGCD
5 muscular dystrophy, duchenne type 10.2
6 dystrophinopathies 10.2
7 danon disease 10.0
8 barth syndrome 10.0
9 neutropenia 10.0
10 3-methylglutaconic aciduria 10.0
11 myocarditis 10.0
12 muscular dystrophy, duchenne and becker type 10.0
13 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DMD SGCA
14 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
15 mcleod syndrome 10.0 DMD SGCA
16 walker-warburg syndrome 9.9 DMD SGCA
17 left ventricular noncompaction 9.9 DMD TAZ
18 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 SGCA SGCD
19 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 SGCA SGCD
20 arrhythmogenic right ventricular cardiomyopathy 9.7 DMD SGCA
21 familial isolated dilated cardiomyopathy 9.6 DMD SGCD TAZ
22 autosomal recessive limb-girdle muscular dystrophy 9.6 DMD SGCA SGCD
23 autosomal recessive limb-girdle muscular dystrophy type 2c 9.6 DMD SGCA SGCD
24 limb-girdle muscular dystrophy 9.6 DMD SGCA SGCD
25 muscular dystrophy, limb-girdle, autosomal recessive 6 9.6 DMD SGCA SGCD
26 muscle tissue disease 9.6 DMD SGCA SGCD
27 muscular disease 9.3 DMD SGCA SGCD TAZ

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 3b:



Diseases related to Cardiomyopathy, Dilated, 3b

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 3b

Human phenotypes related to Cardiomyopathy, Dilated, 3b:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
dilated cardiomyopathy

Misc:
second decade onset in males
late onset in heterozygous females

Clinical features from OMIM:

302045

Drugs & Therapeutics for Cardiomyopathy, Dilated, 3b

Drugs for Cardiomyopathy, Dilated, 3b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 171596-29-5 110635
4
Calcium Approved, Nutraceutical Phase 4,Not Applicable 7440-70-2 271
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic Antagonists Phase 4,Phase 2,Phase 3
7 calcium channel blockers Phase 4
8 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
10 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
11 Adrenergic beta-Antagonists Phase 4,Phase 2,Phase 3
12 Calcium, Dietary Phase 4,Not Applicable
13 Adrenergic alpha-Antagonists Phase 4
14 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1
15 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Adrenergic Agents Phase 4,Phase 2,Phase 3,Not Applicable
18 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
19
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
20 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
21 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
22 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
23 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
24 Antibiotics, Antitubercular Phase 4
25
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
26
Deflazacort Approved, Investigational Phase 3,Phase 1,Phase 2 14484-47-0
27
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
28
Benzocaine Approved, Investigational Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
29
tannic acid Approved Phase 3,Not Applicable 1401-55-4
30
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 443872 150310
31
Spironolactone Approved Phase 3,Phase 1 1952-01-7, 52-01-7 5833
32
Enalaprilat Approved Phase 3 76420-72-9 6917719
33
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
34
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
35
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
36
Zoledronic Acid Approved Phase 3 118072-93-8 68740
37
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
38
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
39
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
40
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
42
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
43
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Immunologic Factors Phase 3,Phase 1,Phase 2,Not Applicable
47 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 glucocorticoids Phase 3,Phase 2,Phase 1
49 Immunosuppressive Agents Phase 3,Phase 1
50 Hypoglycemic Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 263)
# Name Status NCT ID Phase Drugs
1 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 Stacking Exercises Aid the Decline in FVC and Sick Time Completed NCT01999075 Phase 4
5 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
6 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
7 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
8 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
9 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
10 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
11 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
12 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
15 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
17 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Completed NCT01557400 Phase 3 Ataluren
18 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
19 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
20 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Completed NCT01197300 Phase 3 zoledronic acid
21 An Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids for Chronic Inflammatory Conditions Completed NCT00799266 Phase 3 Zoledronic acid;Placebo;Zoledronic acid;Placebo
22 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
23 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
24 Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
25 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
26 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
27 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
28 Bisoprolol in DMD Early Cardiomyopathy Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
29 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
30 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
31 Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
32 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
33 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
34 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
35 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
36 An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
37 Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) Enrolling by invitation NCT01247207 Phase 3 Ataluren
38 A Randomized, Double-blind, Placebo-controlled, Efficacy and Safety Study of WVE-210201 (Suvodirsen) in Ambulatory Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03907072 Phase 2, Phase 3 WVE-210201 (suvodirsen);Placebo
39 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
40 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
41 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
42 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
43 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
44 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
45 A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) Withdrawn NCT03642145 Phase 3 Deflazacort
46 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
47 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
48 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
49 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
50 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2

Search NIH Clinical Center for Cardiomyopathy, Dilated, 3b

Cochrane evidence based reviews: dmd-associated dilated cardiomyopathy

Genetic Tests for Cardiomyopathy, Dilated, 3b

Genetic tests related to Cardiomyopathy, Dilated, 3b:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 3b 30 DMD

Anatomical Context for Cardiomyopathy, Dilated, 3b

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 3b:

42
Heart, Skeletal Muscle, Bone, Testes, Brain

Publications for Cardiomyopathy, Dilated, 3b

Articles related to Cardiomyopathy, Dilated, 3b:

(show all 35)
# Title Authors Year
1
X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report. ( 29891833 )
2018
2
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. ( 29901616 )
2018
3
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. ( 30326162 )
2018
4
X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy. ( 26066469 )
2015
5
Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. ( 26294044 )
2015
6
Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function. ( 25340340 )
2014
7
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. ( 23345479 )
2013
8
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. ( 22455600 )
2012
9
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy. ( 20486769 )
2010
10
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. ( 15641026 )
2005
11
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. ( 15094399 )
2004
12
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. ( 15253946 )
2004
13
Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation. ( 12794683 )
2003
14
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. ( 12354438 )
2002
15
Heart transplantation in X-linked dilated cardiomyopathy. ( 12407825 )
2002
16
X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene. ( 11813847 )
2001
17
Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics. ( 11133212 )
2001
18
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. ( 11726549 )
2001
19
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. ( 10832829 )
2000
20
X-linked dilated cardiomyopathy and the dystrophin gene. ( 10407857 )
1999
21
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. ( 9618170 )
1998
22
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. ( 9683584 )
1998
23
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. ( 9170393 )
1997
24
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. ( 9170407 )
1997
25
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. ( 8789442 )
1996
26
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. ( 7755293 )
1995
27
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. ( 7825571 )
1995
28
X-linked dilated cardiomyopathy. ( 8123157 )
1994
29
X-linked dilated cardiomyopathy. ( 8277969 )
1994
30
X-linked dilated cardiomyopathy. ( 8277968 )
1994
31
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. ( 8504498 )
1993
32
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. ( 8361506 )
1993
33
An intact cysteine-rich domain is required for dystrophin function. ( 1644931 )
1992
34
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. ( 1719174 )
1991
35
X-linked dilated cardiomyopathy. ( 3574369 )
1987

Variations for Cardiomyopathy, Dilated, 3b

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 3b:

76
# Symbol AA change Variation ID SNP ID
1 DMD p.Lys18Asn VAR_023537
2 DMD p.Thr279Ala VAR_023540
3 DMD p.Phe3228Leu VAR_023544

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 3b:

6 (show top 50) (show all 323)
# Gene Variation Type Significance SNP ID Assembly Location
1 DMD DMD, EX1DEL deletion Pathogenic
2 DMD NM_004006.2(DMD): c.8729A> T (p.Glu2910Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41305353 GRCh37 Chromosome X, 31496431: 31496431
3 DMD NM_004006.2(DMD): c.8729A> T (p.Glu2910Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41305353 GRCh38 Chromosome X, 31478314: 31478314
4 DMD NM_004006.2(DMD): c.8734A> G (p.Asn2912Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800278 GRCh37 Chromosome X, 31496426: 31496426
5 DMD NM_004006.2(DMD): c.8734A> G (p.Asn2912Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800278 GRCh38 Chromosome X, 31478309: 31478309
6 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh37 Chromosome X, 31496398: 31496398
7 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh38 Chromosome X, 31478281: 31478281
8 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh37 Chromosome X, 32716112: 32716112
9 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh38 Chromosome X, 32697995: 32697995
10 DMD DMD, ALU INS insertion Pathogenic
11 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
12 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh38 Chromosome X, 31206663: 31206663
13 DMD DMD, 16-BP DEL deletion Pathogenic
14 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
15 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh38 Chromosome X, 31478330: 31478330
16 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh37 Chromosome X, 153642450: 153642450
17 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh38 Chromosome X, 154414113: 154414113
18 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh37 Chromosome X, 153647956: 153647956
19 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh38 Chromosome X, 154419617: 154419617
20 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh37 Chromosome X, 153649337: 153649337
21 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh38 Chromosome X, 154420998: 154420998
22 DMD NM_004006.2(DMD): c.-114dupT duplication Likely benign rs72470542 GRCh37 Chromosome X, 33229543: 33229543
23 DMD NM_004006.2(DMD): c.-114dupT duplication Likely benign rs72470542 GRCh38 Chromosome X, 33211426: 33211426
24 DMD NM_004006.2(DMD): c.-8T> A single nucleotide variant Benign/Likely benign rs113726961 GRCh37 Chromosome X, 33229437: 33229437
25 DMD NM_004006.2(DMD): c.-8T> A single nucleotide variant Benign/Likely benign rs113726961 GRCh38 Chromosome X, 33211320: 33211320
26 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
27 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh38 Chromosome X, 31178721: 31178721
28 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh37 Chromosome X, 31187659: 31187659
29 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh38 Chromosome X, 31169542: 31169542
30 DMD NM_004006.2(DMD): c.10789C> T (p.Leu3597=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800281 GRCh37 Chromosome X, 31165400: 31165400
31 DMD NM_004006.2(DMD): c.10789C> T (p.Leu3597=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800281 GRCh38 Chromosome X, 31147283: 31147283
32 DMD NM_004006.2(DMD): c.1225A> T (p.Thr409Ser) single nucleotide variant Benign/Likely benign rs34155804 GRCh37 Chromosome X, 32662355: 32662355
33 DMD NM_004006.2(DMD): c.1225A> T (p.Thr409Ser) single nucleotide variant Benign/Likely benign rs34155804 GRCh38 Chromosome X, 32644238: 32644238
34 DMD NM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs) duplication Pathogenic rs398123856 GRCh37 Chromosome X, 32632560: 32632561
35 DMD NM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs) duplication Pathogenic rs398123856 GRCh38 Chromosome X, 32614443: 32614444
36 DMD NM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs) duplication Pathogenic rs398123859 GRCh37 Chromosome X, 32867893: 32867894
37 DMD NM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs) duplication Pathogenic rs398123859 GRCh38 Chromosome X, 32849776: 32849777
38 DMD NM_004006.2(DMD): c.1635A> G (p.Arg545=) single nucleotide variant Benign/Likely benign rs5927083 GRCh37 Chromosome X, 32591931: 32591931
39 DMD NM_004006.2(DMD): c.1635A> G (p.Arg545=) single nucleotide variant Benign/Likely benign rs5927083 GRCh38 Chromosome X, 32573814: 32573814
40 DMD NM_004006.2(DMD): c.1869C> T (p.Leu623=) single nucleotide variant Benign/Likely benign rs1800267 GRCh37 Chromosome X, 32583942: 32583942
41 DMD NM_004006.2(DMD): c.1869C> T (p.Leu623=) single nucleotide variant Benign/Likely benign rs1800267 GRCh38 Chromosome X, 32565825: 32565825
42 DMD NM_004006.2(DMD): c.2168+13T> C single nucleotide variant Benign/Likely benign rs228373 GRCh37 Chromosome X, 32563263: 32563263
43 DMD NM_004006.2(DMD): c.2168+13T> C single nucleotide variant Benign/Likely benign rs228373 GRCh38 Chromosome X, 32545146: 32545146
44 DMD NM_004006.2(DMD): c.2623-11C> G single nucleotide variant Benign/Likely benign rs1028360 GRCh37 Chromosome X, 32503227: 32503227
45 DMD NM_004006.2(DMD): c.2623-11C> G single nucleotide variant Benign/Likely benign rs1028360 GRCh38 Chromosome X, 32485110: 32485110
46 DMD NM_004006.2(DMD): c.31+1G> T single nucleotide variant Pathogenic rs398123923 GRCh37 Chromosome X, 33229398: 33229398
47 DMD NM_004006.2(DMD): c.31+1G> T single nucleotide variant Pathogenic rs398123923 GRCh38 Chromosome X, 33211281: 33211281
48 DMD NM_004006.2(DMD): c.3151C> T (p.Arg1051Ter) single nucleotide variant Pathogenic rs398123929 GRCh37 Chromosome X, 32486626: 32486626
49 DMD NM_004006.2(DMD): c.3151C> T (p.Arg1051Ter) single nucleotide variant Pathogenic rs398123929 GRCh38 Chromosome X, 32468509: 32468509
50 DMD NM_004006.2(DMD): c.3406A> T (p.Thr1136Ser) single nucleotide variant Benign/Likely benign rs3827462 GRCh37 Chromosome X, 32481582: 32481582

Expression for Cardiomyopathy, Dilated, 3b

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 3b.

Pathways for Cardiomyopathy, Dilated, 3b

GO Terms for Cardiomyopathy, Dilated, 3b

Cellular components related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.43 DMD SGCA SGCD
2 sarcoglycan complex GO:0016012 9.16 SGCA SGCD
3 dystroglycan complex GO:0016011 8.96 SGCA SGCD
4 dystrophin-associated glycoprotein complex GO:0016010 8.8 DMD SGCA SGCD

Biological processes related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 SGCA TAZ
2 skeletal muscle tissue development GO:0007519 9.32 DMD TAZ
3 cardiac muscle contraction GO:0060048 9.26 DMD TAZ
4 skeletal muscle tissue regeneration GO:0043403 9.16 DMD SGCA
5 response to denervation involved in regulation of muscle adaptation GO:0014894 8.96 DMD SGCA
6 muscle organ development GO:0007517 8.8 DMD SGCA SGCD

Molecular functions related to Cardiomyopathy, Dilated, 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 8.62 RBMX RBMXL2

Sources for Cardiomyopathy, Dilated, 3b

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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70 SNOMED-CT via HPO
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