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DCM
MCID: DLT002
MIFTS: 79

Dilated Cardiomyopathy (DCM)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Dilated Cardiomyopathy

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MalaCards integrated aliases for Dilated Cardiomyopathy:

Name: Dilated Cardiomyopathy 11 24 19 58 75 53 14 36 16 31 33
Familial Dilated Cardiomyopathy 11 19 42 58 75 71
Idiopathic Dilated Cardiomyopathy 19 5 16 33
Primary Dilated Cardiomyopathy 11 28 5 33
Primary Familial Dilated Cardiomyopathy 42 28 5
Idiopathic Dilation Cardiomyopathy 11 75 71
Congestive Cardiomyopathy 11 42 33
Cardiomyopathy, Dilated 43 38 71
Dcm 19 47
Hypokinetic Dilated Cardiomyopathy, Familial 19
Primary Idiopathic Dilated Cardiomyopathy 33
Congestive Idiopathic Cardiomyopathy 33
Cardiomyopathy, Familial Idiopathic 71
Familial Idiopathic Cardiomyopathy 42
Cocm - [congestive Cardiomyopathy] 33
Dilated-Hypokinetic Cardiomyopathy 33
Dilated Congestive Cardiomyopathy 33
Ccm - [congestive Cardiomyopathy] 33
Cardiomyopathy, Familial Dilated 19
Dilated Cardiomyopathy, Familial 19
Chronic Dilated Cardiomyopathy 33
Dcm - [dilated Cardiomyopathy] 33
Idiopathic Cardiomegaly 33
Fdc 42

Characteristics:


Age Of Onset:

All ages 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Immune diseases Neuronal diseases Bone diseases Ear diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33


External Ids:

Disease Ontology 11 DOID:12930
MeSH 43 D002311
NCIt 49 C84673
SNOMED-CT 68 74368002
ICD10 31 I42.0
MESH via Orphanet 44 C536231 D002311
ICD10 via Orphanet 32 I42.0
UMLS via Orphanet 72 C0007193 C0340427
UMLS 71 C0007193 C0340427 C1449563 more
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Summaries for Dilated Cardiomyopathy

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MedlinePlus Genetics: 42 Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.It usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.

MalaCards based summary: Dilated Cardiomyopathy, also known as familial dilated cardiomyopathy, is related to familial isolated dilated cardiomyopathy and cardiomyopathy, dilated, 1e. An important gene associated with Dilated Cardiomyopathy is LMNA (Lamin A/C), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Cardiac conduction. The drugs Verapamil and Benazepril have been mentioned in the context of this disorder. Affiliated tissues include Heart, and related phenotypes are failure to thrive and congestive heart failure

GARD: 19 Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats (arrhythmia), blood clots, or sudden death. Over time, the heart becomes weaker and heart failure can occur. While the cause of Dilated cardiomyopathy is often unknown (idiopathic), some cases are acquired and roughly half are inherited or familial. Also, DCM can be a feature of many genetic syndromes. Familial Dilated cardiomyopathy is most often inherited in an autosomal dominant pattern. Familial Dilated cardiomyopathy is caused by genetic changes in several different genes, most commonly in the TTN gene (found in about 20% of cases).

Disease Ontology: 11 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.

Wikipedia: 75 Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood... more...

GeneReviews: NBK1309
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Related Diseases for Dilated Cardiomyopathy

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Diseases in the Rare 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 Cardiomyopathy, Dilated, 2d
Cardiomyopathy, Dilated, 2e Cardiomyopathy, Dilated, 2f
Cardiomyopathy, Dilated, 2g Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

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

(show top 50) (show all 1250)
# Related Disease Score Top Affiliating Genes
1 familial isolated dilated cardiomyopathy 34.8 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
2 cardiomyopathy, dilated, 1e 34.5 TTN TPM1 SCN5A RBM20 MYH7 MYH6
3 cardiomyopathy, dilated, 1b 34.3 TTN TNNT2 TNNI3 SCN5A RBM20 MYH7
4 cardiomyopathy, dilated, 1a 34.1 TTN TNNI3 RBM20 MYBPC3 LMNA DSP
5 hypertrophic cardiomyopathy 34.1 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
6 cardiomyopathy, dilated, 1h 34.0 TTN TNNI3 RBM20 MYBPC3 LMNA DSP
7 cardiomyopathy, dilated, with woolly hair and keratoderma 33.8 SCN5A DSP DSG2
8 myocarditis 33.7 TTN TNNT2 TNNI3 MYH7 MYH6 LMNA
9 cardiomyopathy, familial hypertrophic, 1 33.7 TTN TPM1 TNNT2 TNNI3 SCN5A RBM20
10 barth syndrome 33.6 TTN TNNT2 TAFAZZIN MYH7 MYH6 MYBPC3
11 heart disease 33.6 TTN TNNT2 TNNI3 TAFAZZIN SCN5A PLN
12 peripartum cardiomyopathy 33.6 TTN RBM20 MYH7 MYH6 MYBPC3 BAG3
13 cardiomyopathy, dilated, 1dd 33.5 TTN TNNT2 RBM20
14 left ventricular noncompaction 33.4 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
15 congestive heart failure 33.3 TTN TNNT2 TNNI3 SCN5A PLN MYH7
16 myopathy 33.3 TTN TPM1 TNNT2 TNNI3 TAFAZZIN MYH7
17 cardiomyopathy, dilated, 1ee 33.2 TPM1 MYH6
18 alcoholic cardiomyopathy 33.2 TTN TNNT2 MYH7
19 arrhythmogenic right ventricular cardiomyopathy 33.2 TTN TPM1 TNNT2 TNNI3 SCN5A RBM20
20 myopathy, myofibrillar, 1 33.1 TTN LMNA DES BAG3
21 danon disease 33.1 TNNT2 MYH7 MYH6 MYBPC3 LAMP2
22 cardiac conduction defect 33.1 SCN5A MYH7 MYH6 MYBPC3 LMNA DSP
23 restrictive cardiomyopathy 33.0 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
24 muscular dystrophy 33.0 TTN TNNT2 TNNI3 MYH7 LMNA FKTN
25 mitral valve insufficiency 33.0 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
26 brugada syndrome 33.0 TTN TPM1 TNNT2 TNNI3 SCN5A RBM20
27 cardiomyopathy, dilated, 1m 32.9 TNNI3 CSRP3
28 left bundle branch hemiblock 32.9 TTN TNNT2 TNNI3 SCN5A MYBPC3 LMNA
29 atrial standstill 1 32.9 TAFAZZIN SCN5A MYH7 MYBPC3 LMNA LAMP2
30 lipoprotein quantitative trait locus 32.8 TTN TNNT2 TNNI3 SCN5A MYH7 MYH6
31 congenital fiber-type disproportion 32.7 TTN MYH7 MYH6 LMNA
32 naxos disease 32.6 SCN5A DSP DSG2
33 rheumatic myocarditis 32.6 TNNT2 TNNI3
34 atrioventricular block 32.6 TNNT2 TNNI3 SCN5A MYH6 LMNA DES
35 progressive familial heart block, type ia 32.5 SCN5A DSP DES
36 progressive familial heart block 32.5 SCN5A DSP DES
37 long qt syndrome 32.4 TTN TNNT2 TNNI3 SCN5A MYH7 MYH6
38 neuromuscular disease 32.3 TTN MYH7 MYH6 LMNA FKTN DES
39 heart valve disease 32.3 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
40 systolic heart failure 32.3 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
41 muscular dystrophy, duchenne type 32.3 TTN TNNT2 TNNI3 FKTN DES
42 cardiac arrest 32.2 TNNT2 TNNI3 SCN5A PLN MYH7 DSP
43 wolff-parkinson-white syndrome 32.1 TTN TNNT2 SCN5A MYH7 MYH6 MYBPC3
44 limb-girdle muscular dystrophy 32.1 TTN MYH6 LMNA FKTN DES CSRP3
45 endocardial fibroelastosis 32.1 TAFAZZIN MYH7 MYH6 CSRP3 ACTN2
46 acute myocarditis 32.1 TNNT2 TNNI3 DSP
47 third-degree atrioventricular block 32.1 TTN TNNI3 SCN5A MYH6 LMNA
48 aortic valve disease 2 32.1 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
49 myofibrillar myopathy 32.0 TTN MYH7 MYH6 MYBPC3 LMNA DES
50 right bundle branch block 32.0 TNNT2 TNNI3 SCN5A DSP DSG2

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



Diseases related to Dilated Cardiomyopathy
Sources

Symptoms & Phenotypes for Dilated Cardiomyopathy

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Human phenotypes related to Dilated Cardiomyopathy:

58 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 Frequent (79-30%)
2 congestive heart failure 58 Frequent (79-30%)
3 abnormal circulating creatine kinase concentration 58 Occasional (29-5%)
4 mitral regurgitation 58 Occasional (29-5%)
5 left ventricular hypertrophy 58 Very frequent (99-80%)
6 dyspnea 58 Frequent (79-30%)
7 arrhythmia 58 Frequent (79-30%)
8 cough 58 Occasional (29-5%)
9 atrial fibrillation 58 Frequent (79-30%)
10 reduced ejection fraction 58 Frequent (79-30%)
11 coronary artery atherosclerosis 58 Excluded (0%)
12 palpitations 58 Occasional (29-5%)
13 ventricular arrhythmia 58 Occasional (29-5%)
14 left bundle branch block 58 Occasional (29-5%)
15 elevated pulmonary artery pressure 58 Occasional (29-5%)
16 right ventricular dilatation 58 Frequent (79-30%)
17 left ventricular systolic dysfunction 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dilated Cardiomyopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.3 BAG3 CSRP3 DES DSG2 DSP FKTN
2 homeostasis/metabolism MP:0005376 10.17 BAG3 CSRP3 DES FKTN LAMP2 LMNA
3 growth/size/body region MP:0005378 10.1 BAG3 CSRP3 DSG2 DSP FKTN LAMP2
4 cardiovascular system MP:0005385 9.91 BAG3 CSRP3 DES DSG2 DSP LAMP2
5 cellular MP:0005384 9.9 BAG3 CSRP3 DES DSG2 DSP FKTN
6 mortality/aging MP:0010768 9.55 BAG3 CSRP3 DES DSG2 DSP FKTN
Sources

Drugs & Therapeutics for Dilated Cardiomyopathy

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
2
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
3
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Enalaprilat Approved Phase 4 76420-72-9 6917719 5462501
6
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5388962 5362032
7
Digoxin Approved Phase 4 20830-75-5 3062 2724385 30322
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
10
Doxazosin Approved Phase 4 74191-85-8 3157
11
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
12
Adenosine Approved, Investigational Phase 4 58-61-7 60961
13
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
14
Ubidecarenone Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
15 Adrenergic Antagonists Phase 4
16 Sodium Channel Blockers Phase 4
17 Diuretics, Potassium Sparing Phase 4
18 Protective Agents Phase 4
19 Antioxidants Phase 4
20 Vitamins Phase 4
21 Trace Elements Phase 4
22 Ubiquinone Phase 4
23 Micronutrients Phase 4
24 Adrenergic alpha-Antagonists Phase 4
25 Adrenergic alpha-1 Receptor Antagonists Phase 4
26 Hormones Phase 4
27 Calcium, Dietary Phase 4
28 calcium channel blockers Phase 4
29 Hormone Antagonists Phase 4
30 Potassium Channel Blockers Phase 4
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Cytochrome P-450 CYP3A Inhibitors Phase 4
33 Adrenergic beta-Antagonists Phase 4
34 Adrenergic Agents Phase 4
35 Neurotransmitter Agents Phase 4
36 Anti-Arrhythmia Agents Phase 4
37 Vasodilator Agents Phase 4
38 Analgesics Phase 4
39
Calcium Nutraceutical Phase 4 7440-70-2 271
40
Ethanol Approved Phase 3 64-17-5 702
41
Coal tar Approved Phase 3 8007-45-2
42
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
43
Candesartan cilexetil Approved Phase 3 145040-37-5
44
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
45
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
46
Azathioprine Approved Phase 3 446-86-6 2265
47
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
48
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
49
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
50
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541

Interventional clinical trials:

(show top 50) (show all 207)
# Name Status NCT ID Phase Drugs
1 Prospective, Randomized Comparison of Therapy With Verapamil or Carvedilol on Long-Term Outcomes of Patients With Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy Unknown status NCT00374465 Phase 4 Verapamil;Carvedilol
2 Efficacy and Safety Study of Supramaximal Titrated Inhibition of RAAS in Idiopathic Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
3 A Multi-center, Randomized, Double, Placebo-controlled, Parallel Group Study of Improving Heart Function and Immunoregulation Effects of Qiliqiangxin Capsule in Patients With Dilated Cardiomyopathy Completed NCT01293903 Phase 4 Qiliqiangxin capsule;Placebo
4 Effect of Coenzyme Q10 (Ubiquinone) Supplementation on Ventricular Function of Children With Idiopathic Dilated Cardiomyopathy.A Randomised Clinical Trial Completed NCT02115581 Phase 4 Coenzyme Q10;Placebo
5 Effect of Aldosterone on Energy Starvation in Heart Failure Completed NCT00574119 Phase 4 spironolactone
6 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
7 Beta-blocker Effect on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4 Carvedilol;Metoprolol succinate;Metoprolol succinate + doxazosin
8 Phase 4. Study of Cardiac Resynchronization Therapy in Patients With Permanent Atrial Fibrillation. Completed NCT01181414 Phase 4 Beta blocker/digoxine/amiodarone
9 Pulse Reduction On Beta-blocker and Ivabradine Therapy Active, not recruiting NCT02973594 Phase 4 Ivabradine;Placebo
10 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
11 Impact of Continues Positive Airway Pressure Treatment in Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea (RIDA) Unknown status NCT02989181 Phase 3
12 Orodispersible Minitablets of Enalapril in Children With Heart Failure Due to Dilated Cardiomyopathy Unknown status NCT02652728 Phase 2, Phase 3 Enalapril Orodispersible Minitablet
13 Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside (RES-HF) Unknown status NCT01914081 Phase 3
14 Follow-up Safety Trial in Children With Chronic Heart Failure Therapy Receiving Orodispersible Minitablets of Enalapril Unknown status NCT02654678 Phase 2, Phase 3 Enalapril Orodispersible Minitablet
15 Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells for Dilated Cardiomyopathy: Randomized Clinical Trial Completed NCT00743639 Phase 2, Phase 3
16 Repetitive Intramyocardial CD34+ Cell Therapy in Dilated Cardiomyopathy Completed NCT02248532 Phase 2, Phase 3
17 Honey Supplementation in Children With Idiopathic Dilated Cardiomyopathy: A Randomized Controlled Study Completed NCT02987322 Phase 2, Phase 3
18 Multicenter Randomized Study Of Cell Therapy In Cardiopathies - Dilated Cardiomyopathy Completed NCT00333827 Phase 3 optimal therapy for cardiaca failure
19 A Randomized, Controlled Study to Evaluate the Safety and Cardiovascular Effects of Algisyl-LVRâ„¢ as a Method of Left Ventricular Augmentation in Patients With Dilated Cardiomyopathy (AUGMENT-HF) Completed NCT01311791 Phase 2, Phase 3 Standard medical therapy
20 Effects of n-3 Polyunsaturated Fatty Acids (PUFAs) on Left Ventricular Function and Functional Capacity in Patients With Dilated Cardiomyopathy Completed NCT01223703 Phase 3 n-3 PUFAs;Placebo
21 A Phase III Study of the Effect of Rosuvastatin on Left Ventricular Remodeling and Inflammatory Markers in Heart Failure Completed NCT00505154 Phase 3 Rosuvastatin;placebo
22 The Acute Effects of the Angiotensin-converting Enzyme Inhibitor Enalaprilat on Flow Distribution After the Bidirectional Cavopulmonary Connection Completed NCT00741156 Phase 3 Enalaprilat
23 Early Treatment With Candesartan vs Placebo in Asymptomatic Genetic Carriers of Dilated Cardiomyopathy (EARLY-GENE Trial)" Recruiting NCT05321875 Phase 3 Candesartan
24 The Efficacy and Safety of Mycophenolate Mofetil in the Treatment of Lymphocytic Myocarditis in Comparison With Azathioprine Recruiting NCT05237323 Phase 3 mycophenolate mofetil 2 g per day;azathioprine of 150 [75; 150] mg per day
25 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
26 Preventive Effect of ACE Inhibitor Perindopril)on the Onset or Progression of Left Ventricular Dysfoction in Subjects at a Preclinical Stage From Families With Dilated Cardiomyopathy Terminated NCT01583114 Phase 3 perindopril;placebo
27 A Phase 3, Multinational, Randomized, Placebo-controlled Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation (REALM-DCM) Terminated NCT03439514 Phase 3 ARRY-371797 (PF-07265803)
28 Effectiveness of Mental Stress Reduction in Defibrillator Patients Terminated NCT00624520 Phase 3
29 Optimization of the Complex Treatment of Nonischemic Dilated Cardiomyopathy Due to the Addition to the Standard Drug Therapy of Intracoronary Administration of Umbilical Cord-derived Mesenchymal Stromal Cells Unknown status NCT04325594 Phase 2
30 Phase I/II Randomized Clinical Trial to Assess the Safety and Feasibility of Transendocardial Injection of Bone Marrow Autologous Mesenchymal Stem Cells in Patients With Idiopathic Dilated Cardiomyopathy. Unknown status NCT01957826 Phase 1, Phase 2
31 A Monocentric, Open Label, Single Arm, Pilot Study on the Early Administration of Ivabradine in Children Aged >6 Months and <18 Years With Dilated Cardiomyopathy and Acute Heart Failure Unknown status NCT04405804 Phase 2 Ivabradine 5Mg Tab
32 Effects of Intramuscular Injection of Umbilical Cord Mesenchymal Stem Cell on the Ventricular Function of Children With Idiopathic Dilated Cardiomyopathy Unknown status NCT01219452 Phase 1, Phase 2
33 A Controlled Open Label Phase II Study Assessing the Efficacy of Intracoronary Autologous Mesenchymal Stem Cells in Patients With Ischemic Dilated Cardiomyopathy Unknown status NCT01720888 Phase 2
34 Intracoronary Transplantation of Autologous Bone Marrow Derived Mononuclear Cells (MNC) in Idiopathic Dilated Cardiomyopathy in Pediatric Patients: Clinical Trial Phase I/II Completed NCT02256501 Phase 1, Phase 2
35 SYM-08-001: A Pilot Study to Evaluate the Safety and Feasibility of Algisyl-LVRâ„¢ as a Method of Left Ventricular Restoration in Patients With Dilated Cardiomyopathy Undergoing Open-heart Surgery Completed NCT00847964 Phase 2
36 Effects of Ranolazine on Myocardial Perfusion in Patients With Dilated Cardiomyopathy Completed NCT02133911 Phase 2 Ranolazine
37 A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Completed NCT02057341 Phase 2 ARRY-371797, p38 inhibitor; oral
38 An Open Label, Single-armed, Exploratory Study of Simvastatin Therapy on the Cardiac Function in Patients With Dilated Cardiomyopathy. Completed NCT03775070 Phase 2 Simvastatin
39 Intramyocardial Delivery of Autologous Bone Marrow Cells in Patients With Heart Failure Due to Dilated Cardiomyopathy Completed NCT00765518 Phase 2
40 Catheter-based Transendocardial Delivery of Autologous Bone Marrow-Derived Cells in Patients With Heart Failure Due to Dilated Cardiomyopathy Completed NCT01020968 Phase 2
41 The Effects of Autologous Intracoronary Stem Cell Transplantation In Patients With End-Stage Dilated Cardiomyopathy Completed NCT00629018 Phase 2 Bone Marrow Stimulation
42 Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells by Mini-Thoracotomy in Dilated Cardiomyopathy - Technique and Early Results Completed NCT00615394 Phase 1, Phase 2
43 Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy, Safety and Tolerability of Transendocardial Injection of Ixmyelocel-T in Subjects With Heart Failure Due to Ischemic Dilated Cardiomyopathy (IDCM). Completed NCT01670981 Phase 2
44 Effects of Intracoronary Infusion of Bone Marrow-derived Progenitor Cells on Myocardial Regeneration in Patients With Non-ischemic Dilated Cardiomyopathy. Completed NCT00629096 Phase 2
45 An Open-label Rollover Study of ARRY-371797 in Patients With Symptomatic Genetic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation Completed NCT02351856 Phase 2 ARRY-371797, p38 inhibitor, oral
46 Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy Completed NCT01350310 Phase 2
47 Randomised Controlled Trial to Compare the Effects of G-CSF (Granocyteâ„¢) and Autologous Bone Marrow Progenitor Cells on Quality of Life and Left Ventricular Function in Patients With Idiopathic Dilated Cardiomyopathy Completed NCT01302171 Phase 2 granulocyte colony stimulating factor (GCSF)
48 A Phase I/II, Randomized Pilot Study of the Comparative Safety and Efficacy of Transendocardial Injection of Autologous Mesenchymal Stem Cells Versus Allogeneic Mesenchymal Stem Cells in Patients With Non-ischemic Dilated Cardiomyopathy. Completed NCT01392625 Phase 1, Phase 2
49 A Phase 1/2 Trial of Intracoronary Administration of MYDICAR® (AAV1/SERCA2a) in Subjects With Heart Failure in Two Stages (Open-Label, Sequential Dose-Escalation Cohorts and Randomized, Double-Blind, Placebo-Controlled, Parallel Cohorts) Completed NCT00454818 Phase 1, Phase 2
50 Phase 1 Randomized-Double Blind Clinical Trial of Intravenous Infusion of Umbilical Cord Mesenchymal Stem Cells Transplantation in Heart Failure on Patients With Cardiopathy in Dilated Stage, of Different Etiology Completed NCT01739777 Phase 1, Phase 2

Search NIH Clinical Center for Dilated Cardiomyopathy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Inamrinone
inamrinone lactate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Dilated Cardiomyopathy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Dilated Cardiomyopathy:
Autologous bone marrow-derived stem cells for treatment of dilated cardiomyopathy
Bone marrow-derived hematopoietic stem cells for treatment of pediatric dilated cardiomyopathy
Bone marrow-derived mesenchymal stem cells for treatment of heart diseases
Bone marrow-derived mononuclear cells for myocardial infarction
Enriched bone marrow-derived progenitor cells for heart diseases
Ixmyelocel-T, mesenchymal stem cells and monocytes for dilated cardiomyopathy
Peripheral blood-derived CD34+ stem cells for treatment of dilated cardiomyopathy
Umbilical cord-derived mesenchymal stem cells for treatment of dilated cardiomyopathy
Embryonic/Adult Cultured Cells Related to Dilated Cardiomyopathy:
Bone marrow-derived mononuclear cells
Bone marrow-derived hematopoietic stem cells (family)
Bone marrow-derived mesenchymal stem cells PMIDs: 22940024
Bone marrow-derived mononuclear cells PMIDs: 22834565
Bone marrow-derived mononuclear cells PMIDs: 22834565
Bone marrow-derived progenitor cells PMIDs: 16990385 22936827 23362308 18794392 22651868 16990384
Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T) PMIDs: 22453769 22776246
Peripheral blood-derived CD34+ cells PMIDs: 23065358
Umbilical cord-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: cardiomyopathy, dilated

Sources

Genetic Tests for Dilated Cardiomyopathy

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Genetic tests related to Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Primary Dilated Cardiomyopathy 28 ABCC9 ACTC1 ACTN2 ANKRD1 BAG3 CSRP3 DES DSG2 EYA4 FKTN LDB3 LMNA MYBPC3 MYH6 NEXN PLN PSEN1 PSEN2 RBM20 SGCD TAFAZZIN TCAP TMPO TNNT2 TPM1 TTN VCL
2 Primary Familial Dilated Cardiomyopathy 28
Sources

Anatomical Context for Dilated Cardiomyopathy

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Organs/tissues related to Dilated Cardiomyopathy:

MalaCards : Heart, Bone Marrow, Bone, Skeletal Muscle, Brain, Liver, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dilated Cardiomyopathy:
# Tissue Anatomical CompartmentCell Relevance
1 Heart Left Ventricle Cardiomyocytes Affected by disease, potential therapeutic candidate
2 Heart Myocardium Cardiomyocytes Affected by disease
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate
4 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
Sources

Publications for Dilated Cardiomyopathy

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Articles related to Dilated Cardiomyopathy:

(show top 50) (show all 19880)
# Title Authors PMID Year
1
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 62 24 5
24503780 2014
2
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. 62 24 5
23418287 2013
3
Truncations of titin causing dilated cardiomyopathy. 62 24 5
22335739 2012
4
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 62 24 5
20215591 2010
5
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 62 24 5
19095136 2008
6
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 62 24 5
19412328 2008
7
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 53 62 5
20497714 2010
8
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 53 62 5
20155465 2010
9
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 53 62 5
20160190 2010
10
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 53 62 5
20031601 2009
11
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. 53 62 5
19318026 2009
12
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 53 62 5
18795223 2009
13
Long-term outcome and risk stratification in dilated cardiolaminopathies. 53 62 5
18926329 2008
14
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 53 62 5
18585512 2008
15
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 53 62 5
18048769 2008
16
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 53 62 5
18035086 2007
17
Prevalence of desmin mutations in dilated cardiomyopathy. 53 62 5
17325244 2007
18
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. 53 62 5
17334235 2007
19
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 53 62 5
16949038 2006
20
[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 53 62 5
16266469 2005
21
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 53 62 5
16061563 2005
22
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 53 62 5
14654368 2003
23
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 53 62 5
12920062 2003
24
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 53 62 5
12628721 2003
25
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. 53 62 5
11896212 2002
26
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 53 62 5
11897440 2002
27
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 53 62 5
11788824 2002
28
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 53 62 5
11792810 2001
29
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 53 62 5
11561226 2001
30
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 53 62 5
11238270 2001
31
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 53 62 5
11106718 2000
32
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 53 62 5
11063735 2000
33
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 53 62 5
10939567 2000
34
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 53 62 5
10580070 1999
35
Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene. 62 5
34120883 2021
36
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis. 62 5
34213952 2021
37
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. 62 5
32969603 2020
38
New Insights in RBM20 Cardiomyopathy. 62 5
32789749 2020
39
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. 62 5
32815318 2020
40
Implications of Genetic Testing in Dilated Cardiomyopathy. 62 5
32880476 2020
41
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy. 62 5
32603605 2020
42
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis. 62 5
32659924 2020
43
Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy. 62 5
33048919 2020
44
Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death. 62 5
31847799 2019
45
Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy. 62 5
30871348 2019
46
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. 62 5
30871351 2019
47
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling. 62 5
29650543 2018
48
Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM. 62 5
30007954 2018
49
Genetic Etiology for Alcohol-Induced Cardiac Toxicity. 62 5
29773157 2018
50
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy. 62 5
29540472 2018
Sources

Variations for Dilated Cardiomyopathy

About this section

ClinVar genetic disease variations for Dilated Cardiomyopathy:

5 (show top 50) (show all 2693)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMP2 NM_002294.3(LAMP2):c.1020del (p.Gly341fs) DEL Pathogenic
 178999 rs727504597 GRCh37: X:119575658-119575658
GRCh38: X:120441803-120441803
2 TAFAZZIN NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) SNV Pathogenic
 42266 rs387907218 GRCh37: X:153649015-153649015
GRCh38: X:154420676-154420676
3 TAFAZZIN NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) MICROSAT Pathogenic
 177908 rs727504394 GRCh37: X:153649005-153649006
GRCh38: X:154420666-154420667
4 MYH6 NM_002471.4(MYH6):c.735T>G (p.Phe245Leu) SNV Pathogenic
 520533 rs1263987728 GRCh37: 14:23873505-23873505
GRCh38: 14:23404296-23404296
5 CSRP3 NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) SNV Pathogenic
 585278 rs1565050320 GRCh37: 11:19206587-19206587
GRCh38: 11:19185040-19185040
6 HAND2-AS1, HAND2 NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) SNV Pathogenic
 545687 rs1553974835 GRCh37: 4:174450242-174450242
GRCh38: 4:173529091-173529091
7 DMD NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter) SNV Pathogenic
 523468 rs1557315928 GRCh37: X:32398634-32398634
GRCh38: X:32380517-32380517
8 PPP1R13L NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs) DEL Pathogenic
Likely Pathogenic
 974805 rs1973093514 GRCh37: 19:45899643-45899671
GRCh38: 19:45396385-45396413
9 LAMP2 NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) SNV Pathogenic
 1012342 GRCh37: X:119590550-119590550
GRCh38: X:120456695-120456695
10 overlap with 81 genes GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) CN LOSS Pathogenic
 523269 GRCh37: 1:834101-6076140
GRCh38:
11 CASZ1 NM_001079843.3(CASZ1):c.2443_2459del (p.Val815fs) DEL Pathogenic
 1175188 GRCh37: 1:10713655-10713671
GRCh38: 1:10653598-10653614
12 FKTN NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) SNV Pathogenic
 290602 rs752358445 GRCh37: 9:108397429-108397429
GRCh38: 9:105635148-105635148
13 ACTN2 NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) SNV Pathogenic
 162727 rs727502886 GRCh37: 1:236882307-236882307
GRCh38: 1:236719007-236719007
14 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic
 523473 rs1554093433 GRCh37: 5:172659836-172659836
GRCh38: 5:173232833-173232833
15 CEP85L, PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys) SNV Pathogenic
 13636 rs111033559 GRCh37: 6:118880109-118880109
GRCh38: 6:118558946-118558946
16 RAF1 NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) SNV Pathogenic
 142298 rs587777587 GRCh37: 3:12626038-12626038
GRCh38: 3:12584539-12584539
17 LMNA NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) SNV Pathogenic
 14479 rs28928900 GRCh37: 1:156084887-156084887
GRCh38: 1:156115096-156115096
18 LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) SNV Pathogenic
Pathogenic
 14484 rs28933092 GRCh37: 1:156104288-156104288
GRCh38: 1:156134497-156134497
19 LMNA NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) SNV Pathogenic
 14485 rs80338938 GRCh37: 1:156107547-156107547
GRCh38: 1:156137756-156137756
20 LMNA NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) SNV Pathogenic
Pathogenic
 14504 rs28933093 GRCh37: 1:156100532-156100532
GRCh38: 1:156130741-156130741
21 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) SNV Pathogenic
 66888 rs57077886 GRCh37: 1:156084738-156084738
GRCh38: 1:156114947-156114947
22 LMNA NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) SNV Pathogenic
 29775 rs56984562 GRCh37: 1:156107457-156107457
GRCh38: 1:156137666-156137666
23 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) SNV Pathogenic
 43637 rs397516464 GRCh37: 1:201333493-201333493
GRCh38: 1:201364365-201364365
24 TNNI3 NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) SNV Pathogenic
 43392 rs397516355 GRCh37: 19:55665403-55665403
GRCh38: 19:55154035-55154035
25 TTN-AS1, TTN NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) SNV Pathogenic
 47237 rs397517664 GRCh37: 2:179446377-179446377
GRCh38: 2:178581650-178581650
26 LMNA NM_170707.4(LMNA):c.348dup (p.Lys117fs) DUP Pathogenic
 48061 rs267607646 GRCh37: 1:156085056-156085057
GRCh38: 1:156115265-156115266
27 TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) SNV Pathogenic
 31884 rs199476317 GRCh37: 15:63354462-63354462
GRCh38: 15:63062263-63062263
28 LMNA NM_170707.4(LMNA):c.958del (p.Leu320fs) DEL Pathogenic
 48095 rs397517915 GRCh37: 1:156105713-156105713
GRCh38: 1:156135922-156135922
29 LMNA NM_170707.4(LMNA):c.1086del (p.Leu363fs) DEL Pathogenic
 155806 rs58389804 GRCh37: 1:156105840-156105840
GRCh38: 1:156136049-156136049
30 SCN5A NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) DEL Pathogenic
Pathogenic
 179338 rs727504801 GRCh37: 3:38601888-38601888
GRCh38: 3:38560397-38560397
31 LMNA NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) SNV Pathogenic
 66882 rs59270054 GRCh37: 1:156084953-156084953
GRCh38: 1:156115162-156115162
32 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic
Pathogenic
 12414 rs74315379 GRCh37: 1:201333464-201333464
GRCh38: 1:201364336-201364336
33 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Pathogenic
Likely Pathogenic
 43069 rs397516248 GRCh37: 14:23884362-23884362
GRCh38: 14:23415153-23415153
34 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic
 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
35 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) SNV Pathogenic
 222001 rs1057515421 GRCh37: 1:156106075-156106075
GRCh38: 1:156136284-156136284
36 MYBPC3 NM_000256.3(MYBPC3):c.2504del (p.Arg835fs) DEL Pathogenic
 228369 rs876657704 GRCh37: 11:47359040-47359040
GRCh38: 11:47337489-47337489
37 TTN-AS1, TTN NM_001256850.1(TTN):c.67057_67063delinsTA (p.Ala22353_Glu22355delinsTer) INDEL Pathogenic
 202465 rs794729338 GRCh37: 2:179438873-179438879
GRCh38: 2:178574146-178574152
38 TTN-AS1, TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic
 488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
39 LMNA NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) SNV Pathogenic
 520407 rs58362413 GRCh37: 1:156106974-156106974
GRCh38: 1:156137183-156137183
40 TTN-AS1, TTN NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) SNV Pathogenic
 520481 rs1553692290 GRCh37: 2:179474569-179474569
GRCh38: 2:178609842-178609842
41 TTN-AS1, TTN NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) SNV Pathogenic
 520476 rs974510652 GRCh37: 2:179416921-179416921
GRCh38: 2:178552194-178552194
42 LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) SNV Pathogenic
 520447 rs57730570 GRCh37: 1:156106909-156106909
GRCh38: 1:156137118-156137118
43 BAG3 NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) DUP Pathogenic
 560609 rs1564773559 GRCh37: 10:121429432-121429433
GRCh38: 10:119669920-119669921
44 TTN-AS1, TTN NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) SNV Pathogenic
 419359 rs1064793814 GRCh37: 2:179424496-179424496
GRCh38: 2:178559769-178559769
45 TTN-AS1, TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) DEL Pathogenic
 523430 rs1553707780 GRCh37: 2:179481655-179481655
GRCh38: 2:178616928-178616928
46 TTN-AS1, TTN NM_001256850.1(TTN):c.86916dup (p.Val28973fs) DUP Pathogenic
Likely Pathogenic
 179692 rs730880365 GRCh37: 2:179414725-179414726
GRCh38: 2:178549998-178549999
47 TTN-AS1, TTN NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) SNV Pathogenic
 429894 rs1131691655 GRCh37: 2:179474496-179474496
GRCh38: 2:178609769-178609769
48 TTN-AS1, TTN NM_001267550.2(TTN):c.72663del (p.Pro24223fs) DEL Pathogenic
 684838 rs1575775337 GRCh37: 2:179438196-179438196
GRCh38: 2:178573469-178573469
49 TTN-AS1, TTN NM_001267550.2(TTN):c.85295del (p.Leu28432fs) DEL Pathogenic
 684873 rs1575616801 GRCh37: 2:179425564-179425564
GRCh38: 2:178560837-178560837
50 TTN-AS1, TTN NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) SNV Pathogenic
 446426 rs1553603152 GRCh37: 2:179435313-179435313
GRCh38: 2:178570586-178570586
Sources

Expression for Dilated Cardiomyopathy

About this section
Search GEO for disease gene expression data for Dilated Cardiomyopathy.
Sources

Pathways for Dilated Cardiomyopathy

About this section


Pathways directly related to Dilated Cardiomyopathy:

# Pathway Source
1 Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Reactome 66

Pathways related to Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.44 LMNA DSP DSG2 DES ACTN2
2
Cardiac conduction 66
Show member pathways
 12.39 TTN TPM1 TNNT2 TNNI3 SCN5A PLN
3
Cytoskeletal Signaling 3
12.21 TPM1 TNNT2 TNNI3 LMNA DES
4
Apoptotic cleavage of cellular proteins 66
Show member pathways
 11.71 LMNA DSP DSG2
5
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.56 TNNT2 TNNI3 DES
6
Antiarrhythmic Pathway, Pharmacodynamics 60
11.3 SCN5A PLN LMNA DSP
7
Cardiac progenitor differentiation 74
11.18 MYH6 SCN5A TNNI3 TNNT2
8
Striated muscle contraction pathway 74
Show member pathways
 11.09 TTN TPM1 TNNT2 TNNI3 MYH6 MYBPC3
Sources

GO Terms for Dilated Cardiomyopathy

About this section

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.97 TPM1 MYH7 MYH6 BAG3
2 intercalated disc GO:0014704 9.92 SCN5A DSP DSG2 DES
3 Z disc GO:0030018 9.86 ACTN2 BAG3 CSRP3 DES MYH6 MYH7
4 myosin filament GO:0032982 9.8 MYBPC3 MYH6 MYH7
5 fascia adherens GO:0005916 9.78 DSP DES
6 troponin complex GO:0005861 9.76 TNNT2 TNNI3
7 cardiac myofibril GO:0097512 9.76 TNNT2 TNNI3 MYBPC3 DES
8 cardiac Troponin complex GO:1990584 9.73 TNNT2 TNNI3
9 myofibril GO:0030016 9.73 MYH6 MYH7 TNNI3 TNNT2
10 striated muscle thin filament GO:0005865 9.67 TTN TNNT2
11 contractile fiber GO:0043292 9.51 TNNI3 DES
12 sarcomere GO:0030017 9.47 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle cell cellular homeostasis GO:0046716 10.06 PLN LAMP2 CSRP3 BAG3
2 muscle contraction GO:0006936 10.06 DES MYH6 MYH7 TAFAZZIN TNNI3 TNNT2
3 regulation of heart rate by cardiac conduction GO:0086091 10.03 SCN5A DSP DSG2
4 regulation of the force of heart contraction GO:0002026 10.03 PLN MYH7 MYH6 CSRP3
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 10.03 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
6 regulation of heart rate GO:0002027 10.02 SCN5A MYH7 MYH6
7 regulation of heart contraction GO:0008016 10.02 DES MYH6 PLN TNNT2 TPM1
8 positive regulation of ATP-dependent activity GO:0032781 10.01 MYBPC3 TNNT2 TPM1
9 cardiac muscle tissue development GO:0048738 10 TAFAZZIN PLN CSRP3
10 cardiac muscle cell development GO:0055013 9.99 TTN MYH6 ACTN2
11 muscle filament sliding GO:0030049 9.97 TPM1 TNNT2 MYH7 MYH6
12 negative regulation of ATP-dependent activity GO:0032780 9.95 PLN TNNI3 TNNT2
13 striated muscle contraction GO:0006941 9.95 MYH6 MYH7 TNNI3 TTN
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.91 DSP DSG2
15 cardiac muscle hypertrophy GO:0003300 9.9 TTN CSRP3
16 chaperone-mediated autophagy GO:0061684 9.89 LAMP2 BAG3
17 detection of muscle stretch GO:0035995 9.88 TTN CSRP3
18 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.88 DSP DSG2
19 desmosome organization GO:0002934 9.87 DSP DSG2
20 regulation of muscle contraction GO:0006937 9.8 TPM1 TNNT2 TNNI3
21 sarcomere organization GO:0045214 9.8 ACTN2 CSRP3 MYH6 MYH7 TNNT2 TPM1
22 cardiac muscle contraction GO:0060048 9.62 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.38 TTN TPM1 TNNT2 PLN MYBPC3 LMNA
2 cytoskeletal protein binding GO:0008092 9.93 ACTN2 DES TPM1
3 actin filament binding GO:0051015 9.93 TTN TPM1 TNNI3 MYH7 MYH6 ACTN2
4 structural constituent of cytoskeleton GO:0005200 9.92 DES DSP LMNA TPM1
5 actinin binding GO:0042805 9.8 TTN CSRP3
6 microfilament motor activity GO:0000146 9.77 TNNT2 MYH7 MYH6
7 actin binding GO:0003779 9.77 ACTN2 CSRP3 MYBPC3 MYH6 MYH7 TNNI3
8 telethonin binding GO:0031433 9.73 TTN CSRP3
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.71 DSP DSG2
10 troponin C binding GO:0030172 9.56 TNNT2 TNNI3
11 structural constituent of muscle GO:0008307 9.32 TTN TPM1 MYBPC3 CSRP3 ACTN2
Sources

Sources for Dilated Cardiomyopathy

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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