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

Aliases & Classifications for Dilated Cardiomyopathy

MalaCards integrated aliases for Dilated Cardiomyopathy:

Name: Dilated Cardiomyopathy 12 73 25 20 58 36 54 15 37 17 32
Familial Dilated Cardiomyopathy 12 73 20 43 58 70
Primary Familial Dilated Cardiomyopathy 43 29 6
Idiopathic Dilation Cardiomyopathy 12 73 70
Idiopathic Dilated Cardiomyopathy 20 6 17
Primary Dilated Cardiomyopathy 12 29 6
Cardiomyopathy, Dilated 44 39 70
Congestive Cardiomyopathy 12 43
Dcm 20 48
Hypokinetic Dilated Cardiomyopathy, Familial 20
Cardiomyopathy, Familial Idiopathic 70
Familial Idiopathic Cardiomyopathy 43
Cardiomyopathy, Familial Dilated 20
Dilated Cardiomyopathy, Familial 20
Fdc 43

Characteristics:

Orphanet epidemiological data:

58
dilated cardiomyopathy
Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:12930
KEGG 36 H00294
MeSH 44 D002311
NCIt 50 C84673
SNOMED-CT 67 74368002
ICD10 32 I42.0
MESH via Orphanet 45 C536231 D002311
ICD10 via Orphanet 33 I42.0
UMLS via Orphanet 71 C0007193 C0340427
UMLS 70 C0007193 C0340427 C1449563 more

Summaries for Dilated Cardiomyopathy

KEGG : 36 Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.

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

Disease Ontology : 12 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.

MedlinePlus Genetics : 43 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.

GARD : 20 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 and typically affects those aged 20 to 60. 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 mutations in several different genes, most commonly in the TTN gene (found in about 20% of cases). DCM treatment may include medication, pacemakers, implantable cardiac defibrillators, or heart transplantation.

Wikipedia : 73 Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood... more...

GeneReviews: NBK1309

Related Diseases for Dilated Cardiomyopathy

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 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 1009)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 35.1 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
2 familial isolated dilated cardiomyopathy 34.7 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
3 cardiomyopathy, dilated, 1e 34.4 TTN TPM1 SCN5A RBM20 MYH7 LMNA
4 hypertrophic cardiomyopathy 34.2 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
5 cardiomyopathy, dilated, 1a 34.2 TTN RBM20 MYBPC3 LMNA DSP BAG3
6 cardiomyopathy, dilated, 1b 34.2 TTN TNNT2 SCN5A RBM20 MYH7 MYH6
7 cardiomyopathy, dilated, 1h 34.0 TTN RBM20 MYBPC3 LMNA DSP DES
8 left ventricular noncompaction 33.7 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
9 heart disease 33.6 TTN TNNT2 TNNI3 TAFAZZIN SCN5A PLN
10 cardiomyopathy, dilated, 1dd 33.5 TTN TNNT2 RBM20
11 barth syndrome 33.5 TTN TNNT2 TAFAZZIN MYH7 MYH6 MYBPC3
12 lmna-related dilated cardiomyopathy 33.5 TTN RBM20 MYBPC3 LMNA DSP BAG3
13 myopathy 33.5 TTN TPM1 TNNT2 TNNI3 TAFAZZIN MYH7
14 congestive heart failure 33.4 TTN TNNT2 TNNI3 SCN5A PLN MYH7
15 myocarditis 33.4 TTN TNNI3 MYH6 DSP
16 cardiomyopathy, dilated, 1ee 33.3 TPM1 MYH6
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.3 SCN5A MYH7 DSP
18 myopathy, myofibrillar, 1 33.3 TTN LMNA FLNC DES BAG3
19 cardiac conduction defect 33.2 SCN5A MYH7 MYH6 MYBPC3 LMNA FLNC
20 peripartum cardiomyopathy 33.2 TTN SCN5A MYH7
21 danon disease 33.2 MYH7 MYH6 MYBPC3 LAMP2 CSRP3
22 cardiomyopathy, familial hypertrophic, 1 33.1 TTN TPM1 TNNT2 TNNI3 SCN5A RBM20
23 muscular dystrophy 33.0 TTN TNNT2 MYH7 LMNA FLNC DES
24 mitral valve insufficiency 33.0 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
25 brugada syndrome 33.0 TTN TPM1 TNNT2 TNNI3 SCN5A RBM20
26 arrhythmogenic right ventricular cardiomyopathy 32.9 TTN SCN5A RBM20 PLN MYH7 MYH6
27 restrictive cardiomyopathy 32.8 TTN TPM1 TNNT2 TNNI3 RBM20 MYH7
28 congenital fiber-type disproportion 32.8 TTN MYH7 MYH6 LMNA
29 left bundle branch hemiblock 32.8 TNNT2 TNNI3 SCN5A LMNA DSP DSG2
30 cardiac arrest 32.7 TTN TNNT2 TNNI3 SCN5A PLN MYH7
31 lipoprotein quantitative trait locus 32.7 TTN TNNT2 TNNI3 SCN5A MYH7 MYH6
32 atrioventricular block 32.6 TTN TNNI3 SCN5A MYH7 LMNA DES
33 long qt syndrome 32.5 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
34 syncope 32.4 TTN TNNT2 SCN5A ACTN2
35 ventricular fibrillation, paroxysmal familial, 1 32.4 TNNT2 SCN5A DSP
36 progressive familial heart block, type ia 32.3 SCN5A DSP
37 wolff-parkinson-white syndrome 32.3 TTN TNNT2 TNNI3 SCN5A MYH7 MYH6
38 neuromuscular disease 32.1 TTN SCN5A MYH7 MYH6 LMNA DES
39 endocardial fibroelastosis 32.1 TAFAZZIN MYH7 CSRP3 ACTN2
40 atrial fibrillation 32.0 TTN SCN5A MYH7 MYBPC3 LMNA
41 myofibrillar myopathy 32.0 TTN MYH7 MYH6 LMNA FLNC DES
42 atrial heart septal defect 31.9 TTN TNNT2 TNNI3 SCN5A MYH7 MYH6
43 sick sinus syndrome 31.9 TTN SCN5A MYH6 LMNA
44 right bundle branch block 31.8 TNNI3 SCN5A DSG2
45 cardiomyopathy, familial restrictive, 3 31.8 TNNT2 FLNC
46 emery-dreifuss muscular dystrophy 31.8 TTN LMNA DES
47 tetralogy of fallot 31.8 TPM1 TNNT2 TNNI3 SCN5A MYH6 ACTN2
48 cardiomyopathy, familial hypertrophic, 4 31.7 TTN TPM1 TNNT2 MYH7 MYBPC3
49 aortic valve disease 2 31.7 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
50 laminopathy 31.6 SCN5A LMNA

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



Diseases related to Dilated Cardiomyopathy

Symptoms & Phenotypes for Dilated Cardiomyopathy

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 levels of creatine kinase in blood 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 BAG3 CSRP3 DES DSG2 DSP FLNC
2 mortality/aging MP:0010768 10.03 BAG3 CSRP3 DES DSG2 DSP FLNC
3 muscle MP:0005369 9.86 BAG3 CSRP3 DES DSG2 DSP FLNC
4 respiratory system MP:0005388 9.17 BAG3 CSRP3 FLNC LMNA MYH6 SCN5A

Drugs & Therapeutics for Dilated Cardiomyopathy

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

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 52-53-9 2520
2
Enalaprilat Approved Phase 4 76420-72-9 6917719
3
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
4
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
5
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
6
Doxazosin Approved Phase 4 74191-85-8 3157
7
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
8
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
9
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
10
Digoxin Approved Phase 4 20830-75-5 30322 2724385
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 219024
14
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
15 Adrenergic beta-Antagonists Phase 4
16 Adrenergic Agents Phase 4
17
protease inhibitors Phase 4
18 Antihypertensive Agents Phase 4
19 HIV Protease Inhibitors Phase 4
20 Hormones Phase 4
21 calcium channel blockers Phase 4
22 Calcium, Dietary Phase 4
23 Antioxidants Phase 4
24 Protective Agents Phase 4
25 Adrenergic alpha-1 Receptor Antagonists Phase 4
26 Adrenergic alpha-Antagonists Phase 4
27 Adrenergic Antagonists Phase 4
28 Giapreza Phase 4
29 Angiotensin Receptor Antagonists Phase 4
30 Angiotensinogen Phase 4
31 Angiotensin II Type 1 Receptor Blockers Phase 4
32 Sodium Channel Blockers Phase 4
33 Diuretics, Potassium Sparing Phase 4
34 Natriuretic Peptide, Brain Phase 4
35 Mineralocorticoids Phase 4
36 Mineralocorticoid Receptor Antagonists Phase 4
37 diuretics Phase 4
38 Trace Elements Phase 4
39 Nutrients Phase 4
40 Vitamins Phase 4
41 Ubiquinone Phase 4
42 Micronutrients Phase 4
43 Cytochrome P-450 CYP3A Inhibitors Phase 4
44 Cytochrome P-450 Enzyme Inhibitors Phase 4
45 Potassium Channel Blockers Phase 4
46 Hormone Antagonists Phase 4
47 Vasodilator Agents Phase 4
48 Neurotransmitter Agents Phase 4
49 Analgesics Phase 4
50 Anti-Arrhythmia Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 194)
# 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 A DANish Randomized, Controlled, Multicenter Study to Assess the Efficacy of Implantable Cardioverter Defibrillator in Patients With Non-ischemic Systolic Heart Failure on Mortality. The DANISH Study Unknown status NCT00541268 Phase 4
3 Beta-blocker Effect on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4 Carvedilol;Metoprolol succinate;Metoprolol succinate + doxazosin
4 Efficacy and Safety Study of Supramaximal Titrated Inhibition of RAAS in Idiopathic Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
5 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
6 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
7 Phase 4. Study of Cardiac Resynchronization Therapy in Patients With Permanent Atrial Fibrillation. Completed NCT01181414 Phase 4 Beta blocker/digoxine/amiodarone
8 Effect of Aldosterone on Energy Starvation in Heart Failure Completed NCT00574119 Phase 4 spironolactone
9 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
10 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4 Ivabradine;Placebo
11 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Terminated NCT03249272 Phase 4 Regadenoson;Adenosine
12 Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside (RES-HF) Unknown status NCT01914081 Phase 3
13 Impact of Continues Positive Airway Pressure Treatment in Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea (RIDA) Unknown status NCT02989181 Phase 3
14 Orodispersible Minitablets of Enalapril in Children With Heart Failure Due to Dilated Cardiomyopathy Unknown status NCT02652728 Phase 2, Phase 3 Enalapril Orodispersible Minitablet
15 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
16 The Acute Effects of the Angiotensin-converting Enzyme Inhibitor Enalaprilat on Flow Distribution After the Bidirectional Cavopulmonary Connection Completed NCT00741156 Phase 3 Enalaprilat
17 Honey Supplementation in Children With Idiopathic Dilated Cardiomyopathy: A Randomized Controlled Study Completed NCT02987322 Phase 2, Phase 3
18 Repetitive Intramyocardial CD34+ Cell Therapy in Dilated Cardiomyopathy Completed NCT02248532 Phase 2, Phase 3
19 Multicenter Randomized Study Of Cell Therapy In Cardiopathies - Dilated Cardiomyopathy Completed NCT00333827 Phase 3 optimal therapy for cardiaca failure
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 Randomized, Controlled Study to Evaluate the Safety and Cardiovascular Effects of Algisyl-LVR™ as a Method of Left Ventricular Augmentation in Patients With Dilated Cardiomyopathy (AUGMENT-HF) Completed NCT01311791 Phase 2, Phase 3 Standard medical therapy
22 Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells for Dilated Cardiomyopathy: Randomized Clinical Trial Completed NCT00743639 Phase 2, Phase 3
23 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
24 A Phase 3, Multinational, Randomized, Placebo-controlled Study of ARRY-371797 in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation Recruiting NCT03439514 Phase 3 ARRY-371797
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 Effectiveness of Mental Stress Reduction in Defibrillator Patients Terminated NCT00624520 Phase 3
28 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
29 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
30 Effects of Ranolazine on Myocardial Perfusion in Patients With Dilated Cardiomyopathy Unknown status NCT02133911 Phase 2 Ranolazine
31 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
32 Left Cardiac Sympathetic Denervation (LCSD) for Cardiomyopathy Feasibility Pilot Study Unknown status NCT03071653 Phase 2
33 Randomised Controlled Trial to Compare the Effects of G-CSF (Granocyte™) 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)
34 Metabolic Manipulation in Chronic Heart Failure Completed NCT00841139 Phase 2 Perhexiline;Placebo
35 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
36 Autologous Transplantation of Bone Marrow Mononuclear Stem-Cells by Mini-Thoracotomy in Dilated Cardiomyopathy - Technique and Early Results Completed NCT00615394 Phase 1, Phase 2
37 SYM-08-001: A Pilot Study to Evaluate the Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With Dilated Cardiomyopathy Undergoing Open-heart Surgery Completed NCT00847964 Phase 2
38 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
39 Effects of Intracoronary Infusion of Bone Marrow-derived Progenitor Cells on Myocardial Regeneration in Patients With Non-ischemic Dilated Cardiomyopathy. Completed NCT00629096 Phase 2
40 The Effects of Autologous Intracoronary Stem Cell Transplantation In Patients With End-Stage Dilated Cardiomyopathy Completed NCT00629018 Phase 2 Bone Marrow Stimulation
41 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
42 Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy Completed NCT01350310 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 A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Completed NCT02057341 Phase 2 ARRY-371797, p38 inhibitor; oral
45 Catheter-based Transendocardial Delivery of Autologous Bone Marrow-Derived Cells in Patients With Heart Failure Due to Dilated Cardiomyopathy Completed NCT01020968 Phase 2
46 Intramyocardial Delivery of Autologous Bone Marrow Cells in Patients With Heart Failure Due to Dilated Cardiomyopathy Completed NCT00765518 Phase 2
47 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
48 Randomized, Double-blind, Placebo-controlled, Two-Part, Adaptive Design Study of Safety, Tolerability, Preliminary Pharmacokinetics, and Pharmacodynamics of Single and Multiple Ascending Oral Doses of MYK-491 in Patients With Stable Heart Failure With Reduced Ejection Fraction Completed NCT03447990 Phase 1, Phase 2 MYK-491;Placebo
49 Transplantation Of Progenitor Cells And Recovery Of Left Ventricular Function In Patients With Nonischemic Dilatative Cardiomyopathy Completed NCT00284713 Phase 1, Phase 2
50 COR-1, an Anti-Beta1 Receptor Antibody Cyclopeptide in Heart Failure: a Phase II, Multicentre, Randomised, Double-Blind and Placebo-Controlled Study With Parallel Groups Completed NCT01391507 Phase 2 0.9 % sodium chloride;COR-1;Standard therapy for heart failure

Search NIH Clinical Center for Dilated Cardiomyopathy

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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.

Cochrane evidence based reviews: cardiomyopathy, dilated

Genetic Tests for Dilated Cardiomyopathy

Genetic tests related to Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Primary Dilated Cardiomyopathy 29 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 29

Anatomical Context for Dilated Cardiomyopathy

MalaCards organs/tissues related to Dilated Cardiomyopathy:

40
Heart, Bone Marrow, Bone, Endothelial, Skeletal Muscle, Liver, Brain
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

Publications for Dilated Cardiomyopathy

Articles related to Dilated Cardiomyopathy:

(show top 50) (show all 17368)
# Title Authors PMID Year
1
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25 6 61
25589632 2015
2
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 25 61 6
24503780 2014
3
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. 61 6 25
23418287 2013
4
Truncations of titin causing dilated cardiomyopathy. 25 61 6
22335739 2012
5
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 25 6 61
20458009 2010
6
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 6 61 25
20215591 2010
7
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 61 25 6
19095136 2008
8
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 25 6 61
19412328 2008
9
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 54 61 6
20497714 2010
10
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 61 6 54
20155465 2010
11
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 6 61 54
20160190 2010
12
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 54 61 6
20031601 2009
13
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. 61 54 6
19318026 2009
14
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. 61 6 54
18795223 2009
15
Long-term outcome and risk stratification in dilated cardiolaminopathies. 61 54 6
18926329 2008
16
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 6 54 61
18585512 2008
17
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 54 6 61
18048769 2008
18
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 61 54 6
18035086 2007
19
Prevalence of desmin mutations in dilated cardiomyopathy. 6 54 61
17325244 2007
20
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. 6 61 54
17334235 2007
21
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 54 6 61
16949038 2006
22
[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 61 54 6
16266469 2005
23
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 6 61 54
16061563 2005
24
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 54 61 6
14654368 2003
25
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 54 61 6
12920062 2003
26
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 61 54 6
12628721 2003
27
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 6 61 54
11897440 2002
28
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. 61 54 6
11896212 2002
29
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 6 61 54
11788824 2002
30
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 54 61 6
11792810 2001
31
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 6 54 61
11561226 2001
32
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 6 61 54
11238270 2001
33
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 54 61 6
11106718 2000
34
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 54 61 6
11063735 2000
35
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 61 54 6
10939567 2000
36
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 54 61 6
10580070 1999
37
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. 6 61
31847799 2019
38
Genetic Etiology for Alcohol-Induced Cardiac Toxicity. 6 61
29773157 2018
39
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. 6 61
28941705 2017
40
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 6 61
29237675 2017
41
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. 61 6
29093449 2017
42
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 61 6
28790152 2017
43
Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. 6 61
28669108 2017
44
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. 6 61
28737513 2017
45
Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 61 6
29367539 2017
46
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 61 6
27886618 2017
47
Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. 6 61
27576561 2017
48
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. 6 61
27585670 2017
49
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. 6 61
27496873 2016
50
Interplay between the effects of a Protein Kinase C phosphomimic (T204E) and a dilated cardiomyopathy mutation (K211Δ or R206W) in rat cardiac troponin T blunts the magnitude of muscle length-mediated crossbridge recruitment against the β-myosin heavy chain background. 6 61
27411801 2016

Variations for Dilated Cardiomyopathy

ClinVar genetic disease variations for Dilated Cardiomyopathy:

6 (show top 50) (show all 2059)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) SNV Pathogenic 14480 rs28933090 GRCh37: 1:156084963-156084963
GRCh38: 1:156115172-156115172
2 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) Deletion Pathogenic 14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
3 LMNA NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) SNV Pathogenic 29775 rs56984562 GRCh37: 1:156107457-156107457
GRCh38: 1:156137666-156137666
4 LMNA NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) SNV Pathogenic 65764 rs61295588 GRCh37: 1:156104600-156104600
GRCh38: 1:156134809-156134809
5 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) SNV Pathogenic 222001 rs1057515421 GRCh37: 1:156106075-156106075
GRCh38: 1:156136284-156136284
6 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
7 LMNA NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) SNV Pathogenic 520407 rs58362413 GRCh37: 1:156106974-156106974
GRCh38: 1:156137183-156137183
8 HAND2-AS1 , HAND2 NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) SNV Pathogenic 545687 rs1553974835 GRCh37: 4:174450242-174450242
GRCh38: 4:173529091-173529091
9 LMNA NM_170707.4(LMNA):c.1608+1G>A SNV Pathogenic 66853 rs267607592 GRCh37: 1:156107024-156107024
GRCh38: 1:156137233-156137233
10 TTN-AS1 , TTN NM_001267550.2(TTN):c.51525del (p.Ser17177fs) Deletion Pathogenic 535032 rs1553692435 GRCh37: 2:179474625-179474625
GRCh38: 2:178609898-178609898
11 TTN-AS1 , TTN NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs) Duplication Pathogenic 978284 GRCh37: 2:179439418-179439419
GRCh38: 2:178574691-178574692
12 TTN-AS1 , TTN NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) SNV Pathogenic 238846 rs767450912 GRCh37: 2:179434142-179434142
GRCh38: 2:178569415-178569415
13 LMNA NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) SNV Pathogenic 694069 rs267607622 GRCh37: 1:156100526-156100526
GRCh38: 1:156130735-156130735
14 TTN-AS1 , TTN NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter) SNV Pathogenic 978334 GRCh37: 2:179442330-179442330
GRCh38: 2:178577603-178577603
15 TTN-AS1 , TTN NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter) SNV Pathogenic 978335 GRCh37: 2:179447293-179447293
GRCh38: 2:178582566-178582566
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) SNV Pathogenic 978336 GRCh37: 2:179411961-179411961
GRCh38: 2:178547234-178547234
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.1698+13C>A SNV Pathogenic 14485 rs80338938 GRCh37: 1:156107547-156107547
GRCh38: 1:156137756-156137756
19 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
20 DES NM_001927.4(DES):c.38C>T (p.Ser13Phe) SNV Pathogenic 44260 rs62636495 GRCh37: 2:220283222-220283222
GRCh38: 2:219418500-219418500
21 TTN-AS1 , TTN NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) SNV Pathogenic 47237 rs397517664 GRCh37: 2:179446377-179446377
GRCh38: 2:178581650-178581650
22 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 GRCh37: 1:156084725-156084725
GRCh38: 1:156114934-156114934
23 LMNA NM_170707.4(LMNA):c.348dup (p.Lys117fs) Duplication Pathogenic 48061 rs267607646 GRCh37: 1:156085056-156085057
GRCh38: 1:156115265-156115266
24 LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) SNV Pathogenic 14483 rs28933091 GRCh37: 1:156104265-156104265
GRCh38: 1:156134474-156134474
25 LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) SNV Pathogenic 14484 rs28933092 GRCh37: 1:156104288-156104288
GRCh38: 1:156134497-156134497
26 LMNA NM_170707.4(LMNA):c.1086del (p.Leu363fs) Deletion Pathogenic 155806 rs58389804 GRCh37: 1:156105840-156105840
GRCh38: 1:156136049-156136049
27 DSP NM_004415.4(DSP):c.3474dup (p.Glu1159fs) Duplication Pathogenic 517147 rs727503000 GRCh37: 6:7579896-7579897
GRCh38: 6:7579663-7579664
28 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 GRCh37: 14:23897714-23897714
GRCh38: 14:23428505-23428505
29 LAMP2 NM_013995.2(LAMP2):c.1020del (p.Gly341fs) Deletion Pathogenic 178999 rs727504597 GRCh37: X:119575658-119575658
GRCh38: X:120441803-120441803
30 SCN5A NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) Deletion Pathogenic 179338 rs727504801 GRCh37: 3:38601888-38601888
GRCh38: 3:38560397-38560397
31 LMNA NM_170707.3(LMNA):c.(?_1)_(356_?)del (p.(?)) Deletion Pathogenic 180106 GRCh37: 1:156084710-156085065
GRCh38: 1:156114919-156115274
32 LMNA NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) SNV Pathogenic 180404 rs730880132 GRCh37: 1:156104666-156104666
GRCh38: 1:156134875-156134875
33 ACTN2 NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) SNV Pathogenic 162727 rs727502886 GRCh37: 1:236882307-236882307
GRCh38: 1:236719007-236719007
34 MYH7 NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) SNV Pathogenic 164316 rs727503253 GRCh37: 14:23893328-23893328
GRCh38: 14:23424119-23424119
35 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) Microsatellite Pathogenic 199827 rs397516706 GRCh37: 18:29126404-29126407
GRCh38: 18:31546441-31546444
36 LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) SNV Pathogenic 14483 rs28933091 GRCh37: 1:156104265-156104265
GRCh38: 1:156134474-156134474
37 LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) SNV Pathogenic 14484 rs28933092 GRCh37: 1:156104288-156104288
GRCh38: 1:156134497-156134497
38 MYH7 NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) SNV Pathogenic 14108 rs121913642 GRCh37: 14:23897088-23897088
GRCh38: 14:23427879-23427879
39 FLNC NM_001458.4(FLNC):c.2971C>T (p.Arg991Ter) SNV Pathogenic 267288 rs886037830 GRCh37: 7:128484099-128484099
GRCh38: 7:128844045-128844045
40 LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic 66856 rs267607581 GRCh37: 1:156107442-156107442
GRCh38: 1:156137651-156137651
41 TTN-AS1 , TTN NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) SNV Pathogenic 520481 rs1553692290 GRCh37: 2:179474569-179474569
GRCh38: 2:178609842-178609842
42 TTN-AS1 , TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) Deletion Pathogenic 523430 rs1553707780 GRCh37: 2:179481655-179481655
GRCh38: 2:178616928-178616928
43 DMD NM_004006.2(DMD):c.4838G>A (p.Trp1613Ter) SNV Pathogenic 523468 rs1557315928 GRCh37: X:32398634-32398634
GRCh38: X:32380517-32380517
44 LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) SNV Pathogenic 520447 rs57730570 GRCh37: 1:156106909-156106909
GRCh38: 1:156137118-156137118
45 MYH6 NM_002471.3(MYH6):c.735T>G (p.Phe245Leu) SNV Pathogenic 520533 rs1263987728 GRCh37: 14:23873505-23873505
GRCh38: 14:23404296-23404296
46 TTN-AS1 , TTN NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) SNV Pathogenic 520476 rs974510652 GRCh37: 2:179416921-179416921
GRCh38: 2:178552194-178552194
47 CSRP3 NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) SNV Pathogenic 585278 rs1565050320 GRCh37: 11:19206587-19206587
GRCh38: 11:19185040-19185040
48 CSRP3 NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) SNV Pathogenic 518500 rs963128995 GRCh37: 11:19209731-19209731
GRCh38: 11:19188184-19188184
49 TTN-AS1 , TTN NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) Deletion Pathogenic 179417 rs727504856 GRCh37: 2:179424057-179424060
GRCh38: 2:178559330-178559333
50 TTN-AS1 , TTN NM_001267550.2(TTN):c.72663del (p.Pro24223fs) Deletion Pathogenic 684838 rs1575775337 GRCh37: 2:179438196-179438196
GRCh38: 2:178573469-178573469

Expression for Dilated Cardiomyopathy

Search GEO for disease gene expression data for Dilated Cardiomyopathy.

Pathways for Dilated Cardiomyopathy

Pathways related to Dilated Cardiomyopathy according to KEGG:

36
# Name Kegg Source Accession
1 Dilated cardiomyopathy hsa05414

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 TTN TPM1 TNNT2 TNNI3 SCN5A PLN
2 12.37 TPM1 TNNT2 TNNI3 LMNA FLNC DES
3
Show member pathways
12.3 TPM1 TNNT2 TNNI3 SCN5A PLN MYH7
4 12.02 LMNA DSP DSG2 DES ACTN2
5 11.77 PLN MYH7 MYH6
6
Show member pathways
11.74 LMNA DSP DSG2
7 11.66 TPM1 TNNT2 TNNI3 MYH7 MYH6
8 11.63 TNNT2 TNNI3 DES
9
Show member pathways
11.59 TTN TPM1 TNNT2 TNNI3 PLN MYH7
10 11.51 SCN5A PLN LMNA DSP
11 11.42 TTN TPM1 TNNT2 TNNI3 MYH6 MYBPC3
12 11.39 TNNT2 TNNI3 SCN5A MYH6

GO Terms for Dilated Cardiomyopathy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.71 SCN5A FLNC DES
2 stress fiber GO:0001725 9.67 TPM1 MYH7 MYH6 BAG3
3 intercalated disc GO:0014704 9.62 SCN5A DSP DSG2 DES
4 Z disc GO:0030018 9.61 TTN SCN5A MYH7 MYH6 FLNC DES
5 myosin filament GO:0032982 9.58 MYH7 MYH6 MYBPC3
6 myofibril GO:0030016 9.56 TNNT2 TNNI3 MYH7 MYH6
7 contractile fiber GO:0043292 9.52 TNNI3 DES
8 muscle myosin complex GO:0005859 9.51 MYH7 MYH6
9 striated muscle thin filament GO:0005865 9.49 TTN TNNT2
10 fascia adherens GO:0005916 9.48 DSP DES
11 troponin complex GO:0005861 9.46 TNNT2 TNNI3
12 cardiac myofibril GO:0097512 9.46 TNNT2 TNNI3 MYBPC3 DES
13 cardiac Troponin complex GO:1990584 9.43 TNNT2 TNNI3
14 sarcomere GO:0030017 9.23 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.89 TNNI3 TAFAZZIN RBM20 CSRP3
2 platelet degranulation GO:0002576 9.82 TTN LAMP2 ACTN2
3 cellular calcium ion homeostasis GO:0006874 9.81 TNNI3 PLN CSRP3
4 muscle filament sliding GO:0030049 9.81 TTN TPM1 TNNT2 TNNI3 MYH7 MYH6
5 sarcomere organization GO:0045214 9.8 TTN TPM1 TNNT2 MYH6 CSRP3 ACTN2
6 regulation of heart contraction GO:0008016 9.77 TPM1 TNNT2 PLN MYH6 DES
7 regulation of the force of heart contraction GO:0002026 9.73 PLN MYH7 MYH6 CSRP3
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
9 positive regulation of ATPase activity GO:0032781 9.71 TPM1 TNNT2 MYBPC3
10 striated muscle contraction GO:0006941 9.71 TTN TNNI3 MYH7 MYH6
11 regulation of heart rate by cardiac conduction GO:0086091 9.7 SCN5A DSP DSG2
12 regulation of heart rate GO:0002027 9.69 SCN5A MYH7 MYH6
13 cardiac muscle tissue development GO:0048738 9.67 TAFAZZIN PLN CSRP3
14 regulation of muscle contraction GO:0006937 9.65 TPM1 TNNT2 TNNI3
15 intermediate filament organization GO:0045109 9.64 DSP DES
16 regulation of cardiac muscle cell contraction GO:0086004 9.63 SCN5A PLN
17 negative regulation of ATPase activity GO:0032780 9.63 TNNT2 TNNI3 PLN
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH7 MYH6
19 adult heart development GO:0007512 9.62 MYH7 MYH6
20 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.61 DSP DSG2
21 cardiac myofibril assembly GO:0055003 9.61 TTN CSRP3
22 muscle contraction GO:0006936 9.61 TTN TPM1 TNNT2 TNNI3 TAFAZZIN MYH7
23 cardiac muscle hypertrophy GO:0003300 9.6 TTN CSRP3
24 cardiac muscle fiber development GO:0048739 9.58 TTN MYH6
25 chaperone-mediated autophagy GO:0061684 9.58 LAMP2 BAG3
26 detection of muscle stretch GO:0035995 9.57 TTN CSRP3
27 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.56 DSP DSG2
28 desmosome organization GO:0002934 9.55 DSP DSG2
29 cardiac muscle contraction GO:0060048 9.32 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 TTN TPM1 TNNT2 TNNI3 TAFAZZIN SCN5A
2 identical protein binding GO:0042802 9.96 TTN TPM1 TNNT2 PLN MYBPC3 LMNA
3 protein domain specific binding GO:0019904 9.8 TNNI3 SCN5A LAMP2 ACTN2
4 calmodulin binding GO:0005516 9.76 TTN SCN5A MYH7 MYH6
5 structural constituent of cytoskeleton GO:0005200 9.71 TPM1 DSP DES
6 actin filament binding GO:0051015 9.63 TTN TPM1 TNNI3 MYH7 MYH6 ACTN2
7 cytoskeletal protein binding GO:0008092 9.62 TPM1 FLNC DES ACTN2
8 ankyrin binding GO:0030506 9.55 SCN5A FLNC
9 actinin binding GO:0042805 9.52 TTN CSRP3
10 titin binding GO:0031432 9.51 MYBPC3 ACTN2
11 telethonin binding GO:0031433 9.43 TTN CSRP3
12 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.4 DSP DSG2
13 troponin C binding GO:0030172 9.37 TNNT2 TNNI3
14 structural constituent of muscle GO:0008307 9.35 TTN TPM1 MYBPC3 CSRP3 ACTN2
15 actin binding GO:0003779 9.28 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3

Sources for Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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