CMD3B
MCID: CRD187
MIFTS: 40

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 57 13
X-Linked Dilated Cardiomyopathy 12 25 75 15
Dilated Cardiomyopathy 3b 12 25 29 6
Cmd3b 57 12 25 75
Dmd-Associated Dilated Cardiomyopathy 25 44 73
Xlcm 57 25 75
Dmd-Related Dilated Cardiomyopathy 12 25
Cardiomyopathy, Dilated, X-Linked 57 55
Cardiomyopathy, Dilated, X-Linked; Xlcm 57
Cardiomyopathy, Dilated, X-Linked 3b 75
Cardiomyopathy, Dilated, Type 3b 40
Xldc 25

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
cardiomyopathy, dilated, 3b:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 302045
Disease Ontology 12 DOID:0110461
ICD10 33 I42.0
SNOMED-CT via HPO 69 263934009 195021004 399020009
UMLS 73 C3668940

Summaries for Cardiomyopathy, Dilated, 3b

Genetics Home Reference : 25 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 dilated cardiomyopathy and muscular dystrophy, becker type. 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 brain, 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 : 75 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
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 25)
# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 30.6 DMD SGCA SGCD TAZ
2 muscular dystrophy, becker type 30.0 DMD SGCA
3 muscular dystrophy 29.9 DMD SGCA SGCD
4 muscular dystrophy, duchenne type 10.0
5 neutropenia 10.0
6 3-methylglutaconic aciduria 10.0
7 myocarditis 10.0
8 muscular dystrophy, duchenne and becker type 10.0
9 dystrophinopathies 10.0
10 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DMD SGCA
11 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
12 mcleod syndrome 10.0 DMD SGCA
13 atrial standstill 1 10.0 DMD TAZ
14 walker-warburg syndrome 9.9 DMD SGCA
15 left ventricular noncompaction 9.9 DMD TAZ
16 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 SGCA SGCD
17 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 SGCA SGCD
18 arrhythmogenic right ventricular cardiomyopathy 9.8 DMD SGCA
19 familial isolated dilated cardiomyopathy 9.8 DMD SGCD TAZ
20 autosomal recessive limb-girdle muscular dystrophy 9.8 DMD SGCA SGCD
21 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 DMD SGCA SGCD
22 limb-girdle muscular dystrophy 9.8 DMD SGCA SGCD
23 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 DMD SGCA SGCD
24 muscle tissue disease 9.7 DMD SGCA SGCD
25 muscular disease 9.6 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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
dilated cardiomyopathy

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


Clinical features from OMIM:

302045

Human phenotypes related to Cardiomyopathy, Dilated, 3b:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 3b

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

(show top 50) (show all 204)
# 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,Not Applicable,Early Phase 1 171596-29-5 110635
4 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Adrenergic alpha-Antagonists Phase 4
8 Adrenergic Antagonists Phase 4
9 Adrenergic beta-Antagonists Phase 4
10 Adrenergic Agents Phase 4,Phase 3,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
16 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Antibiotics, Antitubercular Phase 4
19
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
20 Deflazacort Approved, Investigational Phase 3,Phase 1,Phase 2 14484-47-0
21
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
22
Benzocaine Approved, Investigational Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
23 tannic acid Approved Phase 3,Not Applicable
24
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 443872 150310
25
Spironolactone Approved Phase 3,Not Applicable 52-01-7, 1952-01-7 5833
26
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
27
Enalaprilat Approved Phase 3 76420-72-9 6917719
28
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
29
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
30
Zoledronic acid Approved Phase 3 118072-93-8 68740
31
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
32
Nebivolol Approved, Investigational Phase 3 99200-09-6, 152520-56-4, 118457-14-0 71301
33
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
34
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
35
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
36
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
37 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
40 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
41 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
42 glucocorticoids Phase 3,Phase 2,Phase 1
43 Immunosuppressive Agents Phase 3,Phase 1
44 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
45 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
46 Mineralocorticoids Phase 3,Not Applicable
47 Diuretics, Potassium Sparing Phase 3,Not Applicable
48 Mineralocorticoid Receptor Antagonists Phase 3,Not Applicable
49 Sodium Channel Blockers Phase 3
50 diuretics Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 253)
# 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 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
18 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
19 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
20 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
21 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
22 Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
23 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
24 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
25 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
26 Bisoprolol in DMD Early Cardiomyopathy Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
27 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
28 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
29 A Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
30 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
31 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
32 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
33 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
34 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Active, not recruiting NCT01197300 Phase 3 zoledronic acid
35 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
36 Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) Enrolling by invitation NCT01247207 Phase 3 Ataluren
37 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
38 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
39 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
40 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
41 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
42 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
43 A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) Withdrawn NCT03642145 Phase 3 Deflazacort
44 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
45 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
46 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
47 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
48 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
49 Efficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy Unknown status NCT01540409 Phase 2 AVI-4658 (Eteplirsen)
50 Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Unknown status NCT01918384 Phase 2 NPC-14;Placebo

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 29 DMD

Anatomical Context for Cardiomyopathy, Dilated, 3b

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

41
Heart, Skeletal Muscle, Brain

Publications for Cardiomyopathy, Dilated, 3b

Articles related to Cardiomyopathy, Dilated, 3b:

(show all 33)
# Title Authors Year
1
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. ( 29901616 )
2018
2
X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report. ( 29891833 )
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
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. ( 15253946 )
2004
12
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. ( 15094399 )
2004
13
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. ( 12354438 )
2002
14
Heart transplantation in X-linked dilated cardiomyopathy. ( 12407825 )
2002
15
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
16
Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics. ( 11133212 )
2001
17
X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene. ( 11813847 )
2001
18
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. ( 10832829 )
2000
19
X-linked dilated cardiomyopathy and the dystrophin gene. ( 10407857 )
1999
20
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. ( 9683584 )
1998
21
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. ( 9618170 )
1998
22
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. ( 9170393 )
1997
23
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. ( 9170407 )
1997
24
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. ( 8789442 )
1996
25
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. ( 7825571 )
1995
26
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. ( 7755293 )
1995
27
X-linked dilated cardiomyopathy. ( 8277968 )
1994
28
X-linked dilated cardiomyopathy. ( 8123157 )
1994
29
X-linked dilated cardiomyopathy. ( 8277969 )
1994
30
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. ( 8361506 )
1993
31
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. ( 8504498 )
1993
32
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. ( 1719174 )
1991
33
X-linked dilated cardiomyopathy. ( 3574369 )
1987

Variations for Cardiomyopathy, Dilated, 3b

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

75
# 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 498)
# 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.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh38 Chromosome X, 31444621: 31444621
3 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
4 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh38 Chromosome X, 31178784: 31178784
5 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
6 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh38 Chromosome X, 32816565: 32816565
7 DMD DMD, EX1DEL deletion Pathogenic
8 DMD DMD, IVS1, G-T, +1 single nucleotide variant Pathogenic
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.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh38 Chromosome X, 32342123: 32342123
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.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh38 Chromosome X, 32216981: 32216981
13 DMD NM_004006.2(DMD): c.8729A> T (p.Glu2910Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41305353 GRCh37 Chromosome X, 31496431: 31496431
14 DMD NM_004006.2(DMD): c.8729A> T (p.Glu2910Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41305353 GRCh38 Chromosome X, 31478314: 31478314
15 DMD NM_004006.2(DMD): c.8734A> G (p.Asn2912Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800278 GRCh37 Chromosome X, 31496426: 31496426
16 DMD NM_004006.2(DMD): c.8734A> G (p.Asn2912Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1800278 GRCh38 Chromosome X, 31478309: 31478309
17 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh37 Chromosome X, 31496398: 31496398
18 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh38 Chromosome X, 31478281: 31478281
19 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh37 Chromosome X, 31196868: 31196868
20 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh38 Chromosome X, 31178751: 31178751
21 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh37 Chromosome X, 32716112: 32716112
22 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh38 Chromosome X, 32697995: 32697995
23 DMD DMD, ALU INS insertion Pathogenic
24 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
25 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh38 Chromosome X, 31206663: 31206663
26 DMD DMD, 16-BP DEL deletion Pathogenic
27 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
28 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh38 Chromosome X, 31478330: 31478330
29 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
30 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh38 Chromosome X, 33211304: 33211304
31 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh37 Chromosome X, 153642450: 153642450
32 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh38 Chromosome X, 154414113: 154414113
33 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh37 Chromosome X, 153647956: 153647956
34 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh38 Chromosome X, 154419617: 154419617
35 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh37 Chromosome X, 153649337: 153649337
36 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh38 Chromosome X, 154420998: 154420998
37 DMD NM_004006.2(DMD): c.-114dupT duplication Likely benign rs200237851 GRCh37 Chromosome X, 33229543: 33229543
38 DMD NM_004006.2(DMD): c.-114dupT duplication Likely benign rs200237851 GRCh38 Chromosome X, 33211426: 33211426
39 DMD NM_004006.2(DMD): c.-8T> A single nucleotide variant Benign/Likely benign rs113726961 GRCh37 Chromosome X, 33229437: 33229437
40 DMD NM_004006.2(DMD): c.-8T> A single nucleotide variant Benign/Likely benign rs113726961 GRCh38 Chromosome X, 33211320: 33211320
41 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
42 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh38 Chromosome X, 31180423: 31180423
43 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
44 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh38 Chromosome X, 31180369: 31180369
45 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
46 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh38 Chromosome X, 32645101: 32645101
47 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
48 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh38 Chromosome X, 31178721: 31178721
49 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
50 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh38 Chromosome X, 31178668: 31178668

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 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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