SCD
MCID: CRD132
MIFTS: 61

Cardiac Conduction Defect (SCD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect 57 40 17
Sudden Cardiac Death 74 29 6 72
Cardiac Conduction Defect, Susceptibility to 57 13 6
Conduction Disorder of the Heart 72
Death, Sudden, Cardiac 44
Death Sudden Cardiac 55
Scd 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiac conduction defect:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115080
MeSH 44 D016757
UMLS 72 C0085298 C0264886

Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : 74 Sudden cardiac death: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death.

MalaCards based summary : Cardiac Conduction Defect, also known as sudden cardiac death, is related to familial progressive cardiac conduction defect and brugada syndrome 5, and has symptoms including chest pain An important gene associated with Cardiac Conduction Defect is AKAP10 (A-Kinase Anchoring Protein 10), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Miconazole and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are arrhythmia and syncope

More information from OMIM: 115080

Related Diseases for Cardiac Conduction Defect

Diseases in the Cardiac Conduction Defect family:

Familial Progressive Cardiac Conduction Defect

Diseases related to Cardiac Conduction Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 560)
# Related Disease Score Top Affiliating Genes
1 familial progressive cardiac conduction defect 34.8 SCN5A SCN1B
2 brugada syndrome 5 33.6 SCN5A SCN1B
3 progressive familial heart block 33.1 SCN5A SCN1B DSP
4 short qt syndrome 32.5 KCNQ1 KCNH2
5 long qt syndrome 13 31.5 SCN5A KCNQ1 KCNH2
6 long qt syndrome 12 31.5 SCN5A KCNQ1 KCNH2
7 andersen cardiodysrhythmic periodic paralysis 31.4 SCN5A RYR2 KCNQ1 KCNH2
8 long qt syndrome 2 31.4 SCN5A RYR2 KCNQ1 KCNH2
9 long qt syndrome 5 31.4 SCN5A RYR2 KCNQ1 KCNH2
10 long qt syndrome 6 31.4 SCN5A RYR2 KCNQ1 KCNH2
11 long qt syndrome 1 30.9 SCN5A RYR2 KCNQ1 KCNH2 DSP
12 right bundle branch block 30.7 SCN5A SCN1B
13 catecholaminergic polymorphic ventricular tachycardia 30.6 SCN5A RYR2 MYBPC3 KCNH2 DSP
14 first-degree atrioventricular block 30.4 SCN5A MYH7
15 brugada syndrome 1 30.2 SCN5A KCNH2
16 familial short qt syndrome 30.2 KCNQ1 KCNH2
17 cardiac arrhythmia 30.2 SCN5A RYR2 KCNQ1 KCNH2
18 arrhythmogenic right ventricular cardiomyopathy 29.9 SCN5A RYR2 PLN MYH7 LMNA KCNH2
19 arrhythmogenic right ventricular dysplasia, familial, 1 29.9 RYR2 DSP
20 atrioventricular block 29.9 SCN5A LMNA KCNQ1 KCNH2
21 timothy syndrome 29.7 KCNQ1 KCNH2
22 sudden infant death syndrome 29.6 SCN5A RYR2 KCNQ1 KCNH2
23 syncope 29.6 SCN5A KCNQ1 KCNH2
24 sick sinus syndrome 29.5 SCN5A LMNA
25 long qt syndrome 3 29.4 SCN5A KCNQ1 KCNH2
26 jervell and lange-nielsen syndrome 1 29.4 SCN5A KCNQ1 KCNH2
27 left ventricular noncompaction 29.2 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
28 cardiomyopathy, dilated, 1e 29.1 SCN5A MYH7 LMNA DSP
29 familial atrial fibrillation 29.0 SCN5A SCN1B KCNQ1 KCNH2
30 ventricular fibrillation, paroxysmal familial, 1 28.6 SCN5A RYR2 KCNQ1 KCNH2 DSP
31 brugada syndrome 28.6 SCN5A SCN1B MYBPC3 KCNQ1 KCNH2
32 familial isolated dilated cardiomyopathy 28.4 SCN5A PLN MYH7 MYBPC3
33 atrial fibrillation 28.3 SCN5A SCN1B RYR2 MYBPC3 KCNQ1 KCNH2
34 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 27.8 SCN5A RYR2 MYH7 KCNQ1 KCNH2 DSP
35 long qt syndrome 27.7 SCN5A SCN1B RYR2 MYBPC3 KCNQ1 KCNH2
36 hypertrophic cardiomyopathy 27.6 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
37 atrial standstill 1 27.0 SCN5A SCN1B PLN MYH7 MYBPC3 LMNA
38 heart disease 26.5 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
39 cardiac arrest 26.5 SCN5A RYR2 PLN MYH7 MYBPC3 KCNQ1
40 dilated cardiomyopathy 25.5 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
41 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.7
42 sickle cell disease 12.4
43 progressive familial heart block, type ia 12.4
44 schnyder corneal dystrophy 12.1
45 ehlers-danlos syndrome, spondylodysplastic type, 3 11.8
46 sickle cell anemia 11.8
47 cardiomyopathy, familial hypertrophic, 1 11.7
48 myotonic dystrophy 11.7
49 ventricular tachycardia, familial 11.6
50 kearns-sayre syndrome 11.6

Graphical network of the top 20 diseases related to Cardiac Conduction Defect:



Diseases related to Cardiac Conduction Defect

Symptoms & Phenotypes for Cardiac Conduction Defect

Human phenotypes related to Cardiac Conduction Defect:

32
# Description HPO Frequency HPO Source Accession
1 arrhythmia 32 HP:0011675
2 syncope 32 HP:0001279

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
arrhythmia
progressive atrial conduction defect

Neuro:
syncope

Misc:
sudden death

Lab:
fatty and mononuclear cell infiltration in the atrioventricular conduction system and the main left bundle branch

Clinical features from OMIM:

115080

UMLS symptoms related to Cardiac Conduction Defect:


chest pain

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3
2 growth/size/body region MP:0005378 9.76 AKAP10 DSP KCNH2 KCNQ1 LMNA RYR2
3 muscle MP:0005369 9.56 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
4 nervous system MP:0003631 9.17 AKAP10 DSP KCNQ1 LMNA RYR2 SCN1B

Drugs & Therapeutics for Cardiac Conduction Defect

Drugs for Cardiac Conduction Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 286)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
5
Chlorthalidone Approved Phase 4 77-36-1 2732
6
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
7
Clonidine Approved Phase 4 4205-90-7 2803
8
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
9
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
10
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
11
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
12
Polyestradiol phosphate Approved Phase 4 28014-46-2
13
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
14
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
15
Racepinephrine Approved Phase 4 329-65-7 838
16
Methyltestosterone Approved Phase 4 58-18-4 6010
17
Testosterone enanthate Approved Phase 4 315-37-7 9416
18
Testosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 6013 10204
19
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
20
Empagliflozin Approved Phase 4 864070-44-0
21
Metformin Approved Phase 4 657-24-9 4091 14219
22
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
25
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
26 Eicosapentaenoic acid ethyl ester Phase 4
27 Antiviral Agents Phase 4
28 Dopamine Agents Phase 4
29 Central Nervous System Stimulants Phase 4
30 Neurotransmitter Uptake Inhibitors Phase 4
31 Dopamine Uptake Inhibitors Phase 4
32 Neurotransmitter Agents Phase 4
33 Peripheral Nervous System Agents Phase 4
34 Autonomic Agents Phase 4
35 Trace Elements Phase 4
36 Micronutrients Phase 4
37 Vitamins Phase 4
38 Vitamin B9 Phase 4
39 Folate Phase 4
40 Vitamin B Complex Phase 4
41 Nutrients Phase 4
42 Analgesics Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Adrenergic Agents Phase 4
45 Sympatholytics Phase 4
46 Mineralocorticoid Receptor Antagonists Phase 4
47 Mineralocorticoids Phase 4
48 Adrenergic alpha-2 Receptor Agonists Phase 4
49 Anti-Infective Agents Phase 4
50 Anti-Bacterial Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 504)
# Name Status NCT ID Phase Drugs
1 Does the Early Use of Sodium Bicarbonate Improve Results of Cardiopulmonary Resuscitation Following Out-of-Hospital Cardiac Arrest - a Prospective, Controlled Clinical Trial Unknown status NCT01377337 Phase 4 sodium bicarbonate
2 Comparison of Enteral Versus Intravenous Potassium Supplementation in Hypokalemia in Post Cardiac Surgery Pediatric Cardiac Intensive Care Patients - Prospective Open Label Randomized Control Trial Unknown status NCT02015962 Phase 4 Intravenous potassium chloride;Oral potassium chloride
3 "Test-No Test" Implantable Cardioverter Defibrillator Pilot Study (TNT-ICD) Unknown status NCT01905007 Phase 4
4 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
5 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
6 Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications Completed NCT00560768 Phase 4
7 Phase 4 Study That Compares the DFT (Defibrillation Threshold) Efficacy of 3 Different Membrane Time Constant Based Biphasic Defibrillation Waveforms Completed NCT00311181 Phase 4
8 Effect of Eicosapentaenoic Acid (EPA) on Major Cardiovascular Events in Hypercholesterolemic Patients: the Japan EPA Lipid Intervention Study (JELIS) Completed NCT00231738 Phase 4 Eicosapentaenoic acid ethyl ester(EPADEL Capsule 300 TM)
9 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
10 Survival of Patients With Primary Prophylactic ICD Indication, Provided With Intensified Care After 1st ICD Therapy Completed NCT00619593 Phase 4
11 Clinical and Neurological Outcome With Two Different Cooling Methods (Invasive and Non-invasive) After Sudden Cardiac Arrest Completed NCT00843297 Phase 4
12 Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis Completed NCT01133054 Phase 4
13 hs Troponin Release in Relation to Different ICD-Implantation Procedures Completed NCT01230086 Phase 4
14 Effects of Testosterone on Myocardial Repolarization in Patients With Hypogonadism With/Without Chronic Heat Failure (NYHA Class I-II) Completed NCT03126656 Phase 4 Testosterone Undecanoate
15 OptiLink HF Study (Optimization of Heart Failure Management Using Medtronic OptiVol® Fluid Status Monitoring and Medtronic CareLink® Network) Completed NCT00769457 Phase 4
16 Omacor; Omega-3-Acid Ethyl Ester 90 (n-3 PUFA) and Risk Factors in HIV Infected Patients Treated With HAART, With Special Focus on Lipids Completed NCT00296153 Phase 4 Omega-3-acid ethyl esters 90
17 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
18 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement in Japan Completed NCT01221649 Phase 4
19 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement Completed NCT00711360 Phase 4
20 Prospective, Randomized, Open-Label Study in Patients With Mild-to-Moderate Essential Hypertension to Compare the Antihypertensive Efficacy Determined by Ambulatory Blood Pressure Monitoring of Valsartan and Enalapril After Missing One Dose Completed NCT00302705 Phase 4 Valsartan, Enalapril
21 Implantable Cardioverter Defibrillator Versus Optimal Medical Therapy In Patients With Variant Angina Manifesting as Aborted Sudden Cardiac Death Recruiting NCT02845531 Phase 4 Optimal Medical Therapy
22 Patiromer Efficacy to Reduce Episodic Hyperkalemia in End Stage Renal Disease Patients Treated With Hemodialysis (PEARL-HD) Recruiting NCT03781089 Phase 4 Patiromer Oral Powder Product
23 Studies of Empagliflozin and Its Cardiovascular, Renal and Metabolic Effects in Patients With Diabetes Mellitus and Heart Failure (SUGAR-DM-HF) Recruiting NCT03485092 Phase 4 Empagliflozin 10 MG;Placebo Oral Tablet
24 Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD Recruiting NCT03781752 Phase 4 Methylphenidate
25 Effects of Nicorandil on Cardiovascular Events in Patients With Coronary Artery Disease Receiving Hemodialysis Active, not recruiting NCT01475123 Phase 4 Nicorandil
26 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Active, not recruiting NCT02502981 Phase 4 Spironolactone;Chlortalidone
27 Anxiety-mediated Impairments in Large Elastic Artery Function and the Autonomic Nervous System Active, not recruiting NCT03109795 Phase 4 Clonidine Pill;Hydrochlorothiazide
28 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
29 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
30 The Effect of Empagliflozin Versus Placebo on the Rate of Arrhythmic Events in Heart Failure Patients Not yet recruiting NCT03271879 Phase 4 Empagliflozin at a dose of 10 mg/day
31 A Double-blind, Randomized, Parallel 2- Arm Study to Compare the Efficacy of Ertugliflozin Versus Hydrochlorothiazide in Reducing Sympathetic Neural Overactivity in Patients With Hypertension and Recently-diagnosed Type 2 Diabetes Who Are Receiving Background Standard-of-care Cardio-metabolic Therapy With Metformin, an Angiotensin Converting Enzyme Inhibitor or Angiotensin Receptor Blocker, and a Statin. Not yet recruiting NCT03640221 Phase 4 Ertugliflozin;Hydrochlorothiazide 12.5mg
32 52 Week RCT to Investigate the Effect of Testosterone Undecanoate vs Placebo on Intrahepatic Fat Content in Obese Men With T2DM and Hypogonadism and Subsequent 108 Week Open Label Phase to Investigate Effects on Cardiometabolic Parameters Not yet recruiting NCT03851627 Phase 4 Testosterone Undecanoate;Placebo
33 Conducted AF-Response Study (Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation Treated With InSync III Marquis) Terminated NCT00170313 Phase 4
34 Evaluation of the Effect of Double Inhibition of Angiotensin II AT1 Receptor and Neprilysin Activity on Sympathic Nervous System Activity in Patient With Heart Failure Terminated NCT02787798 Phase 4 valsartan/sacubitril 100 mg;valsartan/sacubitril 200 mg
35 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
36 LUcas Continuous Chest Compressions in Out-of-hospital Cardiac Arrest Treatment. The LUCAT Trial Unknown status NCT01521208 Phase 3
37 Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability (HDHP) During the Early Period of Post-resuscitation Shock Unknown status NCT00780299 Phase 3
38 Vest Prevention of Early Sudden Death and PREDiction of ICD Therapies Unknown status NCT00628966 Phase 3
39 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
40 Ovatio DR and VR Implantable Cardioverter Defibrillators Post-approval Study Completed NCT00586378 Phase 3
41 OMEGA: A Prospective, Randomised, Double-Blind, Placebo-Controlled Multicentre Study in Patients Who Survived Acute Myocardial Infarction to Investigate the Efficacy and Safety of 1 Gram Ω-3-Fatty Acid Ethyl Esters (Ω-3FAE) Daily Versus Placebo to Reduce the Risk of Sudden Cardiac Death. Completed NCT00251134 Phase 3 Zodin (drug);Olive oil (placebo)
42 Diuretics, Hypertension, and Arrhythmias Clinical Trial Completed NCT00000525 Phase 3 hydrochlorothiazide;triamterene;chlorthalidone
43 Multicenter Unsustained Tachycardia Trial (MUSTT) Completed NCT00000480 Phase 3 anti-arrhythmia agents
44 Prognostic, Anti-arrhythmic, and Ventricular Remodeling Effects of High Dose Fish Oil in Patients With a Recent Myocardial Infarction Completed NCT00729430 Phase 3 Omega-3 Fatty Acids (Fish Oil Supplements);Placebo
45 Effects of Supplementation With Algal Triacylglycerols Versus Placebo on Heart Rate Variability in Elderly Patients Completed NCT00749307 Phase 2, Phase 3
46 Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Completed NCT00000609 Phase 3 amiodarone
47 Coronary Artery Bypass Graft (CABG) Patch Trial Completed NCT00000540 Phase 3
48 The Effect of Ranolazine on Cardiac Arrhythmias and Microvolt T- Wave Alternans in Patients With Significant Left Ventricular Dysfunction Completed NCT00998218 Phase 3 Ranolazine;Placebo
49 Beta-Blocker Heart Attack Trial (BHAT) Completed NCT00000492 Phase 3 propranolol
50 Cardiac Arrhythmia Suppression Trial (CAST) Completed NCT00000526 Phase 3 encainide;flecainide;moricizine

Search NIH Clinical Center for Cardiac Conduction Defect

Cochrane evidence based reviews: death, sudden, cardiac

Genetic Tests for Cardiac Conduction Defect

Genetic tests related to Cardiac Conduction Defect:

# Genetic test Affiliating Genes
1 Sudden Cardiac Death 29

Anatomical Context for Cardiac Conduction Defect

MalaCards organs/tissues related to Cardiac Conduction Defect:

41
Heart, Testes, Kidney, Brain, Endothelial, Lung, Spinal Cord

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 13915)
# Title Authors PMID Year
1
Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. 38 8 71
17485678 2007
2
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. 8 71
12646697 2003
3
Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. 38 8
15073377 2004
4
Familial sudden death syndrome with an abnormal signal-averaged electrocardiogram as a potential marker. 38 8
7631614 1995
5
Familial sudden death. Report of a case and review of the literature. 8
2972532 1988
6
Familial inducible torsade de pointes with normal QT interval. 8
6617684 1983
7
Use of signals in the terminal QRS complex to identify patients with ventricular tachycardia after myocardial infarction. 8
7249291 1981
8
Letter: Familial atrioventricular block. 8
4406256 1974
9
Hereditary progressive atrioventricular conduction defect. A new syndrome? 8
4740717 1973
10
Fatal familial cardiac arrhythmias. Histologic observations on the cardiac conduction system. 8
5016833 1972
11
Sudden unexpected death in three generations. 8
5806048 1969
12
Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. 9 38
20408814 2010
13
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction. 9 38
20132818 2010
14
Extracellular K+ is a prerequisite for the function and plasma membrane stability of HERG channels. 9 38
20133899 2010
15
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 9 38
20019025 2010
16
Statins and the reduction of sudden cardiac death: antiarrhythmic or anti-ischemic effect? 9 38
20524717 2010
17
Luminal Ca(2+) activation of cardiac ryanodine receptors by luminal and cytoplasmic domains. 9 38
19255753 2009
18
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 9 38
19880069 2009
19
Diplotype analysis of the human cardiac sodium channel regulatory region in Japanese cases of sudden death by unknown causes. 9 38
19822451 2009
20
Brain natriuretic peptide for the prediction of sudden cardiac death and ventricular arrhythmias: a meta-analysis. 9 38
19789399 2009
21
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 9 38
19477965 2009
22
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. 9 38
19377070 2009
23
Cardiac ankyrins in health and disease. 9 38
19394342 2009
24
Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes. 9 38
19660109 2009
25
Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. 9 38
19668779 2009
26
Role of coupled gating between cardiac ryanodine receptors in the genesis of triggered arrhythmias. 9 38
19429830 2009
27
Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction. 9 38
19318916 2009
28
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 9 38
19328042 2009
29
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 9 38
19251209 2009
30
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. 9 38
19204306 2009
31
Amitriptyline activates cardiac ryanodine channels and causes spontaneous sarcoplasmic reticulum calcium release. 9 38
18845675 2009
32
Drug binding to the inactivated state is necessary but not sufficient for high-affinity binding to human ether-à-go-go-related gene channels. 9 38
18701618 2008
33
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 9 38
18611980 2008
34
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. 9 38
18464931 2008
35
A domain peptide of the cardiac ryanodine receptor regulates channel sensitivity to luminal Ca2+ via cytoplasmic Ca2+ sites. 9 38
18038129 2008
36
Endoplasmic reticulum retention and rescue by heteromeric assembly regulate human ERG 1a/1b surface channel composition. 9 38
18048364 2008
37
Clinical heterogeneity in sodium channelopathies. What is the meaning of carrying a genetic mutation? 9 38
17971661 2008
38
Aldosterone modulates I(f) current through gene expression in cultured neonatal rat ventricular myocytes. 9 38
17644563 2007
39
Long QT and Brugada syndrome gene mutations in New Zealand. 9 38
17905336 2007
40
Limb-girdle muscular dystrophy due to emerin gene mutations. 9 38
17620497 2007
41
Ryanodine receptor: a novel therapeutic target in heart disease. 9 38
18221109 2007
42
Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation. 9 38
17556186 2007
43
Added benefit of mineralocorticoid receptor blockade in the primary prevention of sudden cardiac death. 9 38
17562968 2007
44
Diminished zonula occludens-1 expression in the failing human heart. 9 38
17502245 2007
45
Sudden cardiac death in Andersen-Tawil syndrome. 9 38
17272325 2007
46
A novel mutation in the SCN5A gene is associated with Brugada syndrome. 9 38
17141278 2007
47
Role of ryanodine receptor mutations in cardiac pathology: more questions than answers? 9 38
17052226 2006
48
Ankyrins and human disease: what the electrophysiologist should know. 9 38
16800854 2006
49
Roles of cardiac ryanodine receptor in heart failure and sudden cardiac death. 9 38
16701909 2006
50
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end? 9 38
16828071 2006

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

6 (show all 29)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 6:7575619-7575619 6:7575386-7575386
2 PLN NM_002667.5(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033560 6:118880200-118880200 6:118559037-118559037
3 AKAP10 NM_007202.4(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 17:19812541-19812541 17:19909228-19909228
4 SCN5A NM_000335.4(SCN5A): c.5035G> A (p.Ala1679Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473294 3:38592825-38592825 3:38551334-38551334
5 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 3:32188128-32188128 3:32146636-32146636
6 HCN4 NM_005477.3(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 15:73616159-73616159 15:73323818-73323818
7 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 14:23862646-23862646 14:23393437-23393437
8 TNNT2 NM_000364.4(TNNT2): c.711-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 1:201330501-201330501 1:201361373-201361373
9 RYR2 NM_001035.3(RYR2): c.3380A> G (p.Glu1127Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200525962 1:237730032-237730032 1:237566732-237566732
10 TTN NM_001267550.2(TTN): c.29230C> T (p.Arg9744Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375266859 2:179571371-179571371 2:178706644-178706644
11 AKAP9 NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151021935 7:91682040-91682040 7:92052726-92052726
12 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 18:3116442-3116442 18:3116444-3116444
13 TRPM4 NM_017636.4(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 19:49686146-49686146 19:49182889-49182889
14 MT-TP ; MT-TT m.15923A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1556424691 MT:15923-15923 MT:15923-15923
15 TRPM4 NM_017636.4(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 19:49691980-49691980 19:49188723-49188723
16 RYR2 NM_001035.3(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 1:237777844-237777844 1:237614544-237614544
17 CACNA1C NM_000719.7(CACNA1C): c.985G> A (p.Gly329Ser) single nucleotide variant Uncertain significance rs786205744 12:2602424-2602424 12:2493258-2493258
18 RYR2 NM_001035.3(RYR2): c.14650A> G (p.Met4884Val) single nucleotide variant Uncertain significance rs1553341966 1:237991740-237991740 1:237828440-237828440
19 HCN4 NM_005477.3(HCN4): c.1928T> G (p.Leu643Arg) single nucleotide variant Uncertain significance rs1555475541 15:73617346-73617346 15:73325005-73325005
20 CACNA1C NM_000719.7(CACNA1C): c.1582T> G (p.Trp528Gly) single nucleotide variant Uncertain significance rs755846732 12:2675661-2675661 12:2566495-2566495
21 DPP6 NM_001039350.3(DPP6): c.482C> T (p.Pro161Leu) single nucleotide variant Uncertain significance rs869025384 7:154429577-154429577 7:154637867-154637867
22 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 10:21097584-21097584 10:20808655-20808655
23 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 11:123504912-123504912 11:123634204-123634204
24 CACNA1C NM_000719.7(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 12:2794954-2794954 12:2685788-2685788
25 MYH7 NM_000257.4(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 14:23888691-23888691 14:23419482-23419482
26 ANK2 NM_001148.6(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 4:114278947-114278947 4:113357791-113357791
27 SCN5A NM_000335.4(SCN5A): c.2944T> C (p.Cys982Arg) single nucleotide variant Uncertain significance rs199473182 3:38622706-38622706 3:38581215-38581215
28 SCN5A NM_000335.4(SCN5A): c.1381T> G (p.Leu461Val) single nucleotide variant Benign rs41313697 3:38646357-38646357 3:38604866-38604866
29 KCNH2 NM_000238.3(KCNH2): c.239C> T (p.Ala80Val) single nucleotide variant not provided rs199473493 7:150671867-150671867 7:150974779-150974779

Copy number variations for Cardiac Conduction Defect from CNVD:

7 (show all 32)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 16658 1 128900000 142600000 Deletion Sudden cardiac death
2 17395 1 142600000 155000000 Deletion S100A1 Sudden cardiac death
3 29860 1 237205701 237997288 Gain RYR2 Sudden cardiac death
4 38181 10 1 6600000 Gain Sudden cardiac death
5 59687 11 77100000 92800000 Deletion KCNA4 Sudden cardiac death
6 73255 12 92600000 120700000 Deletion ATP2A2 Sudden cardiac death
7 74068 13 10000000 16300000 Deletion Sudden cardiac death
8 74687 13 110300000 115169878 Gain Sudden cardiac death
9 77098 13 40100000 45200000 Gain Sudden cardiac death
10 84232 14 24600000 33300000 Deletion TINF2 Sudden cardiac death
11 95625 15 78300000 102531392 Gain Sudden cardiac death
12 101480 16 38600000 52600000 Deletion Sudden cardiac death
13 119791 18 17200000 19000000 Deletion Sudden cardiac death
14 119992 18 19000000 25000000 Deletion Sudden cardiac death
15 124165 19 1 6900000 Gain Sudden cardiac death
16 134550 2 102700000 110200000 Gain Sudden cardiac death
17 138742 2 169700000 183000000 Gain Sudden cardiac death
18 139544 2 183000000 189400000 Gain Sudden cardiac death
19 160068 21 6800000 16400000 Gain Sudden cardiac death
20 166127 3 1 8700000 Deletion ITPR1 Sudden cardiac death
21 166128 3 1 8700000 Gain Sudden cardiac death
22 170551 3 155838336 156256927 Deletion KCNAB1 Sudden cardiac death
23 170851 3 160700000 167600000 Gain TERC Sudden cardiac death
24 191731 5 1 9800000 Gain TERT Sudden cardiac death
25 196534 5 168500000 180915260 Gain Sudden cardiac death
26 208074 6 164500000 171115067 Gain Sudden cardiac death
27 217131 7 1 7300000 Gain Sudden cardiac death
28 218560 7 114600000 117400000 Gain Sudden cardiac death
29 221932 7 147900000 159138663 Gain KCNH2 Sudden cardiac death
30 244984 9 1 9000000 Gain Sudden cardiac death
31 247561 9 130300000 141213431 Gain Sudden cardiac death
32 254437 9 65900000 68700000 Deletion gain CMD1B Sudden cardiac death

Expression for Cardiac Conduction Defect

Search GEO for disease gene expression data for Cardiac Conduction Defect.

Pathways for Cardiac Conduction Defect

Pathways related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 SCN5A SCN1B RYR2 PLN MYH7 KCNQ1
2
Show member pathways
12.23 SCN5A SCN1B RYR2 PLN MYBPC3 KCNQ1
3 11.83 SCN5A RYR2 KCNQ1 KCNH2
4
Show member pathways
11.82 RYR2 PLN MYH7 MYBPC3 LMNA
5
Show member pathways
11.79 RYR2 LMNA DSP
6
Show member pathways
11.42 SCN5A SCN1B KCNQ1
7 10.97 SCN5A SCN1B RYR2 PLN LMNA KCNQ1
8 10.88 SCN5A SCN1B

GO Terms for Cardiac Conduction Defect

Cellular components related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.4 SCN5A SCN1B
2 sarcoplasmic reticulum membrane GO:0033017 9.37 RYR2 PLN
3 sarcomere GO:0030017 9.33 RYR2 MYH7 MYBPC3
4 myosin filament GO:0032982 9.32 MYH7 MYBPC3
5 voltage-gated sodium channel complex GO:0001518 9.26 SCN5A SCN1B
6 intercalated disc GO:0014704 9.13 SCN5A SCN1B DSP
7 Z disc GO:0030018 8.92 SCN5A RYR2 MYH7 MYBPC3

Biological processes related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 SCN5A RYR2 KCNQ1 KCNH2
2 ion transport GO:0006811 9.85 SCN5A SCN1B RYR2 KCNQ1 KCNH2
3 ion transmembrane transport GO:0034220 9.67 SCN5A RYR2
4 regulation of ion transmembrane transport GO:0034765 9.67 SCN5A SCN1B KCNQ1 KCNH2
5 regulation of cytosolic calcium ion concentration GO:0051480 9.66 RYR2 PLN
6 regulation of heart contraction GO:0008016 9.66 PLN KCNQ1
7 muscle filament sliding GO:0030049 9.65 MYH7 MYBPC3
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYH7 MYBPC3
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.64 RYR2 PLN
10 positive regulation of heart rate GO:0010460 9.64 RYR2 KCNQ1
11 membrane depolarization GO:0051899 9.63 SCN5A SCN1B
12 regulation of the force of heart contraction GO:0002026 9.63 PLN MYH7
13 positive regulation of sodium ion transport GO:0010765 9.62 SCN5A SCN1B
14 membrane depolarization during action potential GO:0086010 9.62 SCN5A KCNH2
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN5A SCN1B
16 potassium ion export across plasma membrane GO:0097623 9.61 KCNQ1 KCNH2
17 positive regulation of potassium ion transmembrane transport GO:1901381 9.6 KCNQ1 KCNH2
18 regulation of cardiac muscle cell contraction GO:0086004 9.59 SCN5A PLN
19 cellular response to epinephrine stimulus GO:0071872 9.58 RYR2 KCNQ1
20 regulation of membrane repolarization GO:0060306 9.58 KCNQ1 KCNH2
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.57 KCNQ1 KCNH2
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.56 SCN5A SCN1B
23 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.56 SCN5A SCN1B KCNQ1 KCNH2
24 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.55 RYR2 DSP
25 membrane repolarization GO:0086009 9.54 KCNQ1 KCNH2
26 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.52 SCN5A SCN1B
27 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.51 KCNQ1 KCNH2
28 regulation of heart rate GO:0002027 9.5 SCN5A RYR2 MYH7
29 membrane repolarization during action potential GO:0086011 9.49 KCNQ1 KCNH2
30 atrial cardiac muscle cell action potential GO:0086014 9.48 SCN5A KCNQ1
31 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A RYR2 KCNQ1 KCNH2
32 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.43 SCN5A KCNQ1
33 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.4 SCN5A SCN1B
34 regulation of heart rate by cardiac conduction GO:0086091 9.35 SCN5A SCN1B KCNQ1 KCNH2 DSP
35 cardiac muscle contraction GO:0060048 9.17 SCN5A SCN1B RYR2 MYH7 MYBPC3 KCNQ1

Molecular functions related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.7 SCN5A RYR2 KCNH2
2 calmodulin binding GO:0005516 9.62 SCN5A RYR2 MYH7 KCNQ1
3 delayed rectifier potassium channel activity GO:0005251 9.55 KCNQ1 KCNH2
4 sodium channel activity GO:0005272 9.54 SCN5A SCN1B
5 voltage-gated sodium channel activity GO:0005248 9.51 SCN5A SCN1B
6 protein kinase A regulatory subunit binding GO:0034237 9.49 RYR2 KCNQ1
7 protein kinase A catalytic subunit binding GO:0034236 9.46 RYR2 KCNQ1
8 ion channel binding GO:0044325 9.46 SCN5A SCN1B RYR2 KCNQ1
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNQ1 KCNH2
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.4 KCNQ1 KCNH2
11 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN5A SCN1B
12 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.26 SCN5A SCN1B
13 voltage-gated ion channel activity GO:0005244 9.26 SCN5A SCN1B KCNQ1 KCNH2
14 scaffold protein binding GO:0097110 8.92 SCN5A KCNQ1 KCNH2 DSP
15 protein binding GO:0005515 10.22 SCN5A SCN1B RYR2 PLN MYH7 MYBPC3

Sources for Cardiac Conduction Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....