MCID: CRD187
MIFTS: 46

Cardiomyopathy, Dilated, 3b

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

Aliases & Classifications for Cardiomyopathy, Dilated, 3b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 3b:

Name: Cardiomyopathy, Dilated, 3b 57 13
Dilated Cardiomyopathy 3b 12 25 29 6 15
Cmd3b 57 12 25 75
Xlcm 57 25 75
Dmd-Associated Dilated Cardiomyopathy 25 73
Cardiomyopathy, Dilated, X-Linked 57 55
X-Linked Dilated Cardiomyopathy 25 75
Cardiomyopathy, Dilated, X-Linked; Xlcm 57
Cardiomyopathy, Dilated, X-Linked 3b 75
Dmd-Related Dilated Cardiomyopathy 25
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
MeSH 44 D002311
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 dilated cardiomyopathy 3b, is related to dilated cardiomyopathy and dmd-related dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 3b is DMD (Dystrophin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skeletal muscle, and related phenotype is dilated cardiomyopathy.

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.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the DMD gene on chromosome Xp21.

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
Dmd-Related Dilated 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 23)
# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 29.2 DMD SGCA TAZ
2 dmd-related dilated cardiomyopathy 12.4
3 muscular dystrophy, limb-girdle, type 2c 10.0 DMD SGCA
4 mcleod syndrome 10.0 DMD SGCA
5 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD SGCA
6 muscular dystrophy, limb-girdle, type 2f 9.9 DMD SGCA
7 neutropenia 9.9
8 3-methylglutaconic aciduria 9.9
9 myocarditis 9.9
10 dystrophinopathies 9.9
11 muscular dystrophy, limb-girdle, type 2b 9.9 DMD SGCA
12 muscular dystrophy, becker type 9.9 DMD SGCA
13 autosomal recessive limb-girdle muscular dystrophy 9.9 DMD SGCA
14 muscle tissue disease 9.8 DMD SGCA
15 walker-warburg syndrome 9.8 DMD SGCA
16 limb-girdle muscular dystrophy 9.7 DMD SGCA
17 arrhythmogenic right ventricular cardiomyopathy 9.6 DMD SGCA
18 familial isolated dilated cardiomyopathy 9.5 DMD TAZ
19 atrial standstill 1 9.4 DMD TAZ
20 left ventricular noncompaction 9.4 DMD TAZ
21 muscular dystrophy 9.2 DMD SGCA
22 hypertrophic cardiomyopathy 9.1 DMD TAZ
23 myopathy 8.8 DMD SGCA 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 198)
# 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 Adrenergic Agents Phase 4,Phase 3,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
16 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Phosphodiesterase 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 1,Phase 2 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 1994-09-7, 94-09-7 2337
23
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
24
Enalaprilat Approved Phase 3 76420-72-9 6917719
25
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
26
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
27
Zoledronic acid Approved Phase 3 118072-93-8 68740
28
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 150310 443872
29
Spironolactone Approved Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
30
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
31
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
32 tannic acid Approved, Nutraceutical Phase 3
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 gallate Investigational Phase 2, Phase 3 989-51-5 65064
36 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
37 diuretics Phase 3,Phase 1,Not Applicable
38 Natriuretic Agents Phase 3,Phase 1,Not Applicable
39 glucocorticoids Phase 3,Phase 2,Phase 1
40 Immunosuppressive Agents Phase 3,Phase 1
41 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
43 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
44 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Antioxidants Phase 3,Phase 2,Phase 1
47 Micronutrients Phase 3,Phase 2,Not Applicable
48 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Trace Elements Phase 3,Phase 2,Not Applicable
50 Ubiquinone Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 234)
# 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 Active, not recruiting 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 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
9 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
10 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
11 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
12 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
13 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
14 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
15 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
16 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
17 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
18 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
19 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
20 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
21 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
22 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
23 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
24 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Recruiting NCT01197300 Phase 3 zoledronic acid
25 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
26 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
27 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
28 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
29 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
30 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
31 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
32 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
33 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03532542 Phase 3 Casimersen;Golodirsen
34 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
35 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
36 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
37 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
39 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
40 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
41 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
42 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
43 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 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
46 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
47 A Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760264 Phase 2 Vamorolone 0.25 mg/kg/day;Vamorolone 0.75 mg/kg/day;Vamorolone 2.0 mg/kg/day;Vamorolone 6.0 mg/kg/day
48 An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760277 Phase 2 Vamorolone 0.25 mg/day/day;Vamorolone 0.75 mg/day/day;Vamorolone 2.0 mg/day/day;Vamorolone 6.0 mg/day/day
49 L-citrulline and Metformin in Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
50 (-)- Epicatechin Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin

Search NIH Clinical Center for Cardiomyopathy, Dilated, 3b

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, Bone, Skeletal Muscle, Testes, Brain

Publications for Cardiomyopathy, Dilated, 3b

Articles related to Cardiomyopathy, Dilated, 3b:

(show all 21)
# 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
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
4
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. ( 23345479 )
2013
5
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. ( 22455600 )
2012
6
Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. ( 21851881 )
2011
7
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. ( 15253946 )
2004
8
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. ( 15094399 )
2004
9
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. ( 12354438 )
2002
10
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
11
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. ( 10832829 )
2000
12
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. ( 9683584 )
1998
13
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. ( 9618170 )
1998
14
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. ( 9170393 )
1997
15
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. ( 9170407 )
1997
16
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. ( 8789442 )
1996
17
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. ( 7825571 )
1995
18
X-linked dilated cardiomyopathy. ( 8277968 )
1994
19
X-linked dilated cardiomyopathy. ( 8123157 )
1994
20
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. ( 8361506 )
1993
21
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. ( 1719174 )
1991

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 411)
# 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 DMD, ALU INS insertion Pathogenic
7 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh38 Chromosome X, 32816565: 32816565
8 DMD DMD, EX1DEL deletion Pathogenic
9 DMD DMD, IVS1, G-T, +1 single nucleotide variant Pathogenic
10 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
11 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh38 Chromosome X, 32342123: 32342123
12 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
13 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh38 Chromosome X, 32216981: 32216981
14 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh37 Chromosome X, 31196868: 31196868
15 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh38 Chromosome X, 31178751: 31178751
16 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh37 Chromosome X, 32716112: 32716112
17 DMD NM_004006.2(DMD): c.835A> G (p.Thr279Ala) single nucleotide variant Pathogenic rs128627255 GRCh38 Chromosome X, 32697995: 32697995
18 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
19 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh38 Chromosome X, 31206663: 31206663
20 DMD DMD, 16-BP DEL deletion Pathogenic
21 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
22 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh38 Chromosome X, 31478330: 31478330
23 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
24 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh38 Chromosome X, 33211304: 33211304
25 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
26 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh38 Chromosome X, 31180423: 31180423
27 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
28 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh38 Chromosome X, 31180369: 31180369
29 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
30 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh38 Chromosome X, 32645101: 32645101
31 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
32 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh38 Chromosome X, 31178721: 31178721
33 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
34 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh38 Chromosome X, 31178668: 31178668
35 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh37 Chromosome X, 31196053: 31196053
36 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh38 Chromosome X, 31177936: 31177936
37 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh37 Chromosome X, 31187666: 31187667
38 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh38 Chromosome X, 31169549: 31169550
39 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh37 Chromosome X, 31187659: 31187659
40 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh38 Chromosome X, 31169542: 31169542
41 DMD NM_004006.2(DMD): c.1048G> T (p.Glu350Ter) single nucleotide variant Pathogenic rs398123840 GRCh37 Chromosome X, 32663182: 32663182
42 DMD NM_004006.2(DMD): c.1048G> T (p.Glu350Ter) single nucleotide variant Pathogenic rs398123840 GRCh38 Chromosome X, 32645065: 32645065
43 DMD NM_004006.2(DMD): c.10625delC (p.Pro3542Leufs) deletion Pathogenic rs398123844 GRCh37 Chromosome X, 31165564: 31165564
44 DMD NM_004006.2(DMD): c.10625delC (p.Pro3542Leufs) deletion Pathogenic rs398123844 GRCh38 Chromosome X, 31147447: 31147447
45 DMD NM_004006.2(DMD): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs398123852 GRCh37 Chromosome X, 32662319: 32662319
46 DMD NM_004006.2(DMD): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs398123852 GRCh38 Chromosome X, 32644202: 32644202
47 DMD NM_004006.2(DMD): c.1286C> A (p.Ser429Ter) single nucleotide variant Pathogenic rs398123853 GRCh37 Chromosome X, 32662294: 32662294
48 DMD NM_004006.2(DMD): c.1286C> A (p.Ser429Ter) single nucleotide variant Pathogenic rs398123853 GRCh38 Chromosome X, 32644177: 32644177
49 DMD NM_004006.2(DMD): c.1306dupG (p.Val436Glyfs) duplication Pathogenic rs398123854 GRCh37 Chromosome X, 32662274: 32662274
50 DMD NM_004006.2(DMD): c.1306dupG (p.Val436Glyfs) duplication Pathogenic rs398123854 GRCh38 Chromosome X, 32644157: 32644157

Expression for Cardiomyopathy, Dilated, 3b

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

Pathways for Cardiomyopathy, Dilated, 3b

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

# 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 Cardiomyopathy, Dilated, 3b

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

# 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 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 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 Cardiomyopathy, Dilated, 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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