SCD
MCID: CRD132
MIFTS: 59

Cardiac Conduction Defect (SCD)

Categories: Genetic diseases

Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect 57 39 17
Sudden Cardiac Death 72 29 6 70
Cardiac Conduction Defect, Susceptibility to 57 13 6
Conduction Disorder of the Heart 70
Cardiac Conduction Disease 6
Death, Sudden, Cardiac 44
Death Sudden Cardiac 54
Scd 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiac conduction defect:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 115080
MeSH 44 D016757
UMLS 70 C0085298 C0264886

Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : 72 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 progressive familial heart block, type ia 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 Cardiac conduction and cGMP-PKG signaling pathway. The drugs Omega 3 Fatty Acid and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related phenotypes are arrhythmia and syncope

More information from OMIM: 115080

Related Diseases for Cardiac Conduction Defect

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

(show top 50) (show all 630)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 32.9 SCN5A DSP
2 brugada syndrome 5 32.6 SCN5A SCN1B LMNA
3 long qt syndrome 12 32.0 SCN5A KCNQ1
4 long qt syndrome 10 32.0 SCN5A KCNQ1
5 long qt syndrome 13 32.0 SCN5A KCNQ1
6 holt-oram syndrome 32.0 MYH7 MYH6 LMNA
7 long qt syndrome 15 31.8 SCN1B CACNA1C
8 long qt syndrome 14 31.8 SCN5A KCNQ1 CACNA1C
9 long qt syndrome 5 31.8 SCN5A KCNQ1 CACNA1C
10 long qt syndrome 6 31.8 SCN5A KCNQ1 CACNA1C
11 cardiac arrhythmia, ankyrin-b-related 31.7 SCN5A RYR2 KCNQ1 CACNA1C
12 long qt syndrome 11 31.7 KCNQ1 CACNA1C
13 short qt syndrome 31.6 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
14 andersen cardiodysrhythmic periodic paralysis 31.6 SCN5A RYR2 KCNQ1 CACNA1C
15 long qt syndrome 9 31.5 SCN5A RYR2 KCNQ1 CACNA1C
16 naxos disease 31.4 RYR2 DSP DSG2
17 wolff-parkinson-white syndrome 31.4 SCN5A MYH7 MYH6 MYBPC3 KCNQ1
18 cardiomyopathy, familial hypertrophic, 4 31.4 MYH7 MYBPC3
19 familial long qt syndrome 31.1 SCN5A KCNQ1 DSP
20 sudden infant death syndrome 30.8 SCN5A SCN1B RYR2 KCNQ1
21 mitral valve insufficiency 30.6 MYH7 MYH6 MYBPC3
22 cardiac arrhythmia 30.6 SCN5A SCN1B RYR2 KCNQ1 DSP CACNA1C
23 brugada syndrome 1 30.6 SCN5A RYR2 MYBPC3
24 progressive familial heart block 30.5 TRPM4 SCN5A SCN1B RYR2 MYH7 MYH6
25 laminopathy 30.5 SCN5A LMNA
26 long qt syndrome 2 30.5 SCN5A SCN1B RYR2 MYH7 MYH6 MYBPC3
27 atrial heart septal defect 30.5 SCN5A MYH7 MYH6
28 syncope 30.5 SCN5A RYR2 KCNQ1
29 cardiomyopathy, familial hypertrophic, 1 30.4 SCN5A RYR2 MYH7 MYH6 MYBPC3 LMNA
30 first-degree atrioventricular block 30.4 SCN5A MYH7 LMNA
31 lmna-related dilated cardiomyopathy 30.3 MYBPC3 LMNA DSP
32 cardiomyopathy, dilated, 1h 30.3 MYBPC3 LMNA DSP
33 cardiomyopathy, dilated, 1a 30.3 MYBPC3 LMNA DSP
34 aortic valve disease 2 30.3 MYH7 MYH6 MYBPC3
35 brugada syndrome 4 30.2 SCN5A KCNQ1 CACNA1C
36 familial sick sinus syndrome 30.2 SCN5A MYH6
37 atrial fibrillation 30.2 SCN5A SCN1B RYR2 MYH7 MYBPC3 LMNA
38 jervell and lange-nielsen syndrome 1 30.2 SCN5A KCNQ1 CACNA1C
39 third-degree atrioventricular block 30.1 SCN5A SCN1B
40 arrhythmogenic right ventricular dysplasia, familial, 8 30.1 RYR2 DSP DSG2
41 cardiomyopathy, dilated, with woolly hair and keratoderma 30.1 RYR2 DSP DSG2
42 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.1 SCN5A RYR2 MYH7 KCNQ1 DSP
43 timothy syndrome 29.9 SCN5A RYR2 KCNQ1 CACNA1C
44 danon disease 29.9 MYH7 MYH6 MYBPC3
45 cardiomyopathy, dilated, 1e 29.9 SCN5A MYH7 LMNA DSP
46 patent foramen ovale 29.9 TRPM4 MYH6 FLNC
47 sinoatrial node disease 29.8 SCN5A SCN1B RYR2 MYH6 KCNQ1 CACNA1C
48 right bundle branch block 29.7 TRPM4 SCN5A SCN1B DSG2 CACNA1C
49 left bundle branch hemiblock 29.7 SCN5A RYR2 LMNA DSP DSG2
50 long qt syndrome 3 29.6 SCN5A SCN1B RYR2 KCNQ1 CACNA1C

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:

31
# Description HPO Frequency HPO Source Accession
1 arrhythmia 31 HP:0011675
2 syncope 31 HP:0001279
3 sudden death 31 HP:0001699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiac:
arrhythmia
progressive atrial conduction defect

Misc:
sudden death

Neuro:
syncope

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

Clinical features from OMIM®:

115080 (Updated 20-May-2021)

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 10.07 AKAP10 CACNA1C DSG2 DSP FLNC KCNQ1
2 growth/size/body region MP:0005378 9.9 AKAP10 CACNA1C DSP FLNC KCNQ1 LMNA
3 mortality/aging MP:0010768 9.7 AKAP10 CACNA1C DSG2 DSP FLNC LMNA
4 muscle MP:0005369 9.36 CACNA1C DSG2 DSP FLNC KCNQ1 LMNA

Drugs & Therapeutics for Cardiac Conduction Defect

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

(show top 50) (show all 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Phase 4
2 Platelet Aggregation Inhibitors Phase 4
3 Eicosapentaenoic acid ethyl ester Phase 4
4
Ranolazine Approved, Investigational Phase 3 95635-55-5, 142387-99-3 56959
5
Quinidine Approved, Investigational Phase 3 56-54-2 441074
6
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
7
Procainamide Approved Phase 3 51-06-9 4913
8
Imipramine Approved Phase 3 50-49-7 3696
9
Propranolol Approved, Investigational Phase 3 525-66-6 4946
10
Flecainide Approved, Withdrawn Phase 3 54143-55-4 3356
11
Moricizine Approved, Investigational, Withdrawn Phase 3 31883-05-3 34633
12
Encainide Approved, Investigational, Withdrawn Phase 3 66778-36-7 48033 48041
13
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
14
Chlorthalidone Approved Phase 3 77-36-1 2732
15
Triamterene Approved Phase 3 396-01-0 5546
16 Cholinergic Agents Phase 3
17 Olive Phase 3
18 Psychotropic Drugs Phase 3
19 diuretics Phase 3
20 Antidepressive Agents Phase 3
21 Muscarinic Antagonists Phase 3
22 Cholinergic Antagonists Phase 3
23 Anti-Infective Agents Phase 3
24 Antiparasitic Agents Phase 3
25 Antidepressive Agents, Tricyclic Phase 3
26 Quinidine gluconate Phase 3
27 Adrenergic alpha-Antagonists Phase 3
28 Antiprotozoal Agents Phase 3
29 Antimalarials Phase 3
30 Sodium Chloride Symporter Inhibitors Phase 3
31
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
32
Racepinephrine Approved Phase 2 329-65-7 838
33
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
34
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
35
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
36
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
37
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
38 Micronutrients Phase 2
39 Hydroxycholecalciferols Phase 2
40 Trace Elements Phase 2
41 Nutrients Phase 2
42 Ergocalciferols Phase 2
43 Vitamin D2 Phase 2
44 Vitamins Phase 2
45 Calciferol Phase 2
46 Ubiquinone Phase 2
47 Adrenergic beta-Antagonists Phase 2
48 Neurotransmitter Agents Phase 2
49 Anti-Arrhythmia Agents Phase 2
50 Antihypertensive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 249)
# 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 Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications Completed NCT00560768 Phase 4
3 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
4 Phase 4 Study That Compares the DFT (Defibrillation Threshold) Efficacy of 3 Different Membrane Time Constant Based Biphasic Defibrillation Waveforms Completed NCT00311181 Phase 4
5 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)
6 Survival of Patients With Primary Prophylactic ICD Indication, Provided With Intensified Care After 1st ICD Therapy Completed NCT00619593 Phase 4
7 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
8 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
9 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
10 LUcas Continuous Chest Compressions in Out-of-hospital Cardiac Arrest Treatment. The LUCAT Trial Unknown status NCT01521208 Phase 3
11 Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability (HDHP) During the Early Period of Post-resuscitation Shock Unknown status NCT00780299 Phase 3
12 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
13 Ovatio DR and VR Implantable Cardioverter Defibrillators Post-approval Study Completed NCT00586378 Phase 3
14 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
15 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)
16 Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Completed NCT00000609 Phase 3 amiodarone
17 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
18 Coronary Artery Bypass Graft (CABG) Patch Trial Completed NCT00000540 Phase 3
19 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
20 Beta-Blocker Heart Attack Trial (BHAT) Completed NCT00000492 Phase 3 propranolol
21 Home Automatic External Defibrillator Trial -- HAT Completed NCT00047411 Phase 3
22 Public Access Defibrillation (PAD) Community Trial Completed NCT00004560 Phase 3
23 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
24 Cardiac Arrhythmia Suppression Trial (CAST) Completed NCT00000526 Phase 3 encainide;flecainide;moricizine
25 Diuretics, Hypertension, and Arrhythmias Clinical Trial Completed NCT00000525 Phase 3 hydrochlorothiazide;triamterene;chlorthalidone
26 Multicenter Unsustained Tachycardia Trial (MUSTT) Completed NCT00000480 Phase 3 anti-arrhythmia agents
27 Preventive VT Substrate Ablation in Patients With Chronic Post-MI Scar Showing Arrhythmogenic Characteristics Not yet recruiting NCT04675073 Phase 3
28 Prophylactic Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias (PREVENT VT) Not yet recruiting NCT01013714 Phase 3 Routine Care
29 Vitamin D Supplementation and Cardiac Autonomic Tone in Hemodialysis Patients: A Blinded, Randomized-controlled Trial Completed NCT01774812 Phase 2
30 The Effect of Intravenous n-3 Polyunsaturated Fatty Acids on Risk Markers for Sudden Cardiac Death in Hemodialysis Patients Completed NCT00259025 Phase 2 lipid emulsion with a high content of n-3 fatty acids
31 Coenzyme Q10 in Post-Cardiac Arrest Cerebral Resuscitation Completed NCT01319110 Phase 2 Coenzyme Q10
32 Intravenous Infusion of n-3 Polyunsaturated Fatty Acids and Ventricular Tachycardia in Patients With Implantable Cardioverter Defibrillator (ICD) Completed NCT00534300 Phase 1, Phase 2 Omegaven;Isotonic saline
33 Treatment of Ventricular Tachyarrhythmias Refractory To Shock With Beta Blockers: The SHOCK and BLOCK Trial Terminated NCT00401882 Phase 2 Epinephrine;Metoprolol
34 Clinical Study of the LRS ThermoSuit™ System in Post Arrest Patients With Intravenous Infusion of Magnesium Sulfate Withdrawn NCT00593164 Phase 2
35 Automatic External Defibrillation Monitoring in Cardiac Arrest Completed NCT00382928 Phase 1
36 The Effects of Oral Proteolytic and Hydrolytic Enzymes and Flavonoids on Inflammatory Markers and Coagulation After Marathon Running Completed NCT01916408 Phase 1 Wobenzym plus;PL 1
37 Nursing Interventions Following Sudden Cardiac Arrest Completed NCT00226681 Phase 1
38 Risk Assessment of Cardiac ARrhythmias in Patients With MYocarditis Unknown status NCT03801681
39 Risk Stratification in End Stage Renal Disease (ISAR) Unknown status NCT01152892
40 Electrophysiologic and Morphologic Assessment of the Substrate to Guide Implantation of Defibrillators in Dilated Cardiomyopathy Unknown status NCT01378572
41 CHronic Use of Amiodarone aGAinSt Implantable Cardioverter-defibrillator Therapy for Primary Prevention of Death in Patients With Chagas Cardiomyopathy Study (CHAGASICS) Unknown status NCT01722942 amiodarone hydrochloride
42 The Harbinger ICD Patient (HIP) Study Unknown status NCT00562757
43 Subcutaneous ICD Therapy Combined With VT Ablation for the Secondary Prevention of Sudden Cardiac Death Unknown status NCT03622307
44 Register About Change of hsTROPoninT After Implantation of a Subcutaneous Implantable Cardioverter-Defibrillator Unknown status NCT03526302
45 Sudden Cardiac Death: Evaluation of a New Strategy to Identify Young Adults at Risk Unknown status NCT01845909
46 Finnish Genetic Study for Arrhythmic Events Unknown status NCT02075866
47 Selection of Shock Energy in Out-Of-Hospital Cardiac Arrest Unknown status NCT00472147
48 Sudden Cardiac Death in Heart Failure Trial 10 Year Follow-up (SCD-HeFT 10 Year) Unknown status NCT01058837
49 Prediction of Sudden Cardiac Death in Dilated Cardiomyopathy: The PREDICT-DCM Trial. Unknown status NCT03224156
50 Sodium Channel Splicing in Heart Failure Trial (SOCS-HEFT) Prospective Study Unknown status NCT02738749

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:

40
Heart, Kidney, Brain, Liver, Bone, Endothelial, Lung

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 15607)
# Title Authors PMID Year
1
Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. 6 57 61
17485678 2007
2
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. 6 57
12646697 2003
3
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 6 61
18464934 2008
4
Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. 61 57
15073377 2004
5
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 61 6
11748104 2001
6
Familial sudden death syndrome with an abnormal signal-averaged electrocardiogram as a potential marker. 61 57
7631614 1995
7
Interpreting secondary cardiac disease variants in an exome cohort. 6
23861362 2013
8
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
9
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 6
12639993 2003
10
Familial sudden death. Report of a case and review of the literature. 57
2972532 1988
11
Familial inducible torsade de pointes with normal QT interval. 57
6617684 1983
12
Use of signals in the terminal QRS complex to identify patients with ventricular tachycardia after myocardial infarction. 57
7249291 1981
13
Letter: Familial atrioventricular block. 57
4406256 1974
14
Hereditary progressive atrioventricular conduction defect. A new syndrome? 57
4740717 1973
15
Fatal familial cardiac arrhythmias. Histologic observations on the cardiac conduction system. 57
5016833 1972
16
Sudden unexpected death in three generations. 57
5806048 1969
17
Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. 54 61
20408814 2010
18
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction. 54 61
20132818 2010
19
Extracellular K+ is a prerequisite for the function and plasma membrane stability of HERG channels. 61 54
20133899 2010
20
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 61 54
20019025 2010
21
Statins and the reduction of sudden cardiac death: antiarrhythmic or anti-ischemic effect? 54 61
20524717 2010
22
Luminal Ca(2+) activation of cardiac ryanodine receptors by luminal and cytoplasmic domains. 61 54
19255753 2009
23
Diplotype analysis of the human cardiac sodium channel regulatory region in Japanese cases of sudden death by unknown causes. 54 61
19822451 2009
24
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. 54 61
19880069 2009
25
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 54 61
19477965 2009
26
Brain natriuretic peptide for the prediction of sudden cardiac death and ventricular arrhythmias: a meta-analysis. 61 54
19789399 2009
27
Cardiac ankyrins in health and disease. 61 54
19394342 2009
28
Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes. 54 61
19660109 2009
29
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. 61 54
19377070 2009
30
Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. 54 61
19668779 2009
31
Role of coupled gating between cardiac ryanodine receptors in the genesis of triggered arrhythmias. 61 54
19429830 2009
32
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. 54 61
19318916 2009
33
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. 54 61
19328042 2009
34
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 54 61
19251209 2009
35
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. 61 54
19204306 2009
36
Amitriptyline activates cardiac ryanodine channels and causes spontaneous sarcoplasmic reticulum calcium release. 54 61
18845675 2009
37
Drug binding to the inactivated state is necessary but not sufficient for high-affinity binding to human ether-à-go-go-related gene channels. 61 54
18701618 2008
38
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 54 61
18611980 2008
39
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. 61 54
18464931 2008
40
A domain peptide of the cardiac ryanodine receptor regulates channel sensitivity to luminal Ca2+ via cytoplasmic Ca2+ sites. 54 61
18038129 2008
41
Endoplasmic reticulum retention and rescue by heteromeric assembly regulate human ERG 1a/1b surface channel composition. 54 61
18048364 2008
42
Clinical heterogeneity in sodium channelopathies. What is the meaning of carrying a genetic mutation? 54 61
17971661 2008
43
Aldosterone modulates I(f) current through gene expression in cultured neonatal rat ventricular myocytes. 54 61
17644563 2007
44
Long QT and Brugada syndrome gene mutations in New Zealand. 61 54
17905336 2007
45
Limb-girdle muscular dystrophy due to emerin gene mutations. 61 54
17620497 2007
46
Ryanodine receptor: a novel therapeutic target in heart disease. 61 54
18221109 2007
47
Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation. 54 61
17556186 2007
48
Added benefit of mineralocorticoid receptor blockade in the primary prevention of sudden cardiac death. 54 61
17562968 2007
49
Diminished zonula occludens-1 expression in the failing human heart. 54 61
17502245 2007
50
Sudden cardiac death in Andersen-Tawil syndrome. 54 61
17272325 2007

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1B NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) SNV Pathogenic 9255 rs121434627 GRCh37: 19:35524454-35524454
GRCh38: 19:35033550-35033550
2 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic 374137 rs1057518920 GRCh37: 6:7575619-7575619
GRCh38: 6:7575386-7575386
3 DSP NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) Indel Pathogenic 418788 rs1064793435 GRCh37: 6:7567596-7567601
GRCh38: 6:7567363-7567368
4 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 GRCh37: 3:38601661-38601661
GRCh38: 3:38560170-38560170
5 SCN1B NM_001037.5(SCN1B):c.448+89G>A SNV Pathogenic 9256 rs267607029 GRCh37: 19:35524732-35524732
GRCh38: 19:35033828-35033828
6 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) SNV Pathogenic 36604 rs36211723 GRCh37: 11:47360071-47360071
GRCh38: 11:47338520-47338520
7 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) SNV Pathogenic 3131 rs17215500 GRCh37: 11:2790111-2790111
GRCh38: 11:2768881-2768881
8 SCN5A NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) SNV Likely pathogenic 684784 rs1575703249 GRCh37: 3:38591966-38591966
GRCh38: 3:38550475-38550475
9 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Likely pathogenic 14151 rs143978652 GRCh37: 14:23862646-23862646
GRCh38: 14:23393437-23393437
10 CACNA1C NM_000719.7(CACNA1C):c.32del (p.Pro11fs) Deletion Likely pathogenic 978276 GRCh37: 12:2162759-2162759
GRCh38: 12:2053593-2053593
11 FLNC-AS1 , FLNC NM_001458.5(FLNC):c.5685del (p.Val1896fs) Deletion Likely pathogenic 978274 GRCh37: 7:128491524-128491524
GRCh38: 7:128851470-128851470
12 RYR2 NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) SNV Likely pathogenic 978366 GRCh37: 1:237870516-237870516
GRCh38: 1:237707216-237707216
13 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.2979G>T (p.Gln993His) SNV Likely pathogenic 996557 GRCh37: 18:29126328-29126328
GRCh38: 18:31546365-31546365
14 TRPM4 NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) SNV Likely pathogenic 241176 rs71352737 GRCh37: 19:49686146-49686146
GRCh38: 19:49182889-49182889
15 CEP85L , PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Likely pathogenic 13637 rs111033560 GRCh37: 6:118880200-118880200
GRCh38: 6:118559037-118559037
16 MYH7 NM_000257.4(MYH7):c.345+1G>A SNV Likely pathogenic 862006 GRCh37: 14:23902292-23902292
GRCh38: 14:23433083-23433083
17 HCN4 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) SNV Likely pathogenic 190772 rs62641689 GRCh37: 15:73616159-73616159
GRCh38: 15:73323818-73323818
18 RYR2 NM_001035.3(RYR2):c.243G>A (p.Met81Ile) SNV Likely pathogenic 684806 rs1572627115 GRCh37: 1:237494252-237494252
GRCh38: 1:237330952-237330952
19 LMNA NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) Indel Likely pathogenic 222695 rs869025458 GRCh37: 1:156085063-156085064
GRCh38: 1:156115272-156115273
20 AKAP10 NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val) SNV risk factor 5404 rs203462 GRCh37: 17:19812541-19812541
GRCh38: 17:19909228-19909228
21 ANK2 NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) SNV Uncertain significance 684796 rs770289485 GRCh37: 4:114279019-114279019
GRCh38: 4:113357863-113357863
22 MYH6 NM_002471.3(MYH6):c.4060G>A (p.Glu1354Lys) SNV Uncertain significance 684804 rs1595052281 GRCh37: 14:23858183-23858183
GRCh38: 14:23388974-23388974
23 RYR2 NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) SNV Uncertain significance 229220 rs767728159 GRCh37: 1:237777844-237777844
GRCh38: 1:237614544-237614544
24 ANK2 NM_001148.6(ANK2):c.9173G>A (p.Arg3058His) SNV Uncertain significance 180273 rs730880048 GRCh37: 4:114278947-114278947
GRCh38: 4:113357791-113357791
25 SCN3B NM_018400.3(SCN3B):c.587C>G (p.Ser196Cys) SNV Uncertain significance 222800 rs777776827 GRCh37: 11:123504912-123504912
GRCh38: 11:123634204-123634204
26 NEBL NM_213569.2(NEBL):c.529+4114G>T SNV Uncertain significance 222752 rs869025491 GRCh37: 10:21097584-21097584
GRCh38: 10:20808655-20808655
27 TRPM4 NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) SNV Uncertain significance 222853 rs547541099 GRCh37: 19:49691980-49691980
GRCh38: 19:49188723-49188723
28 DPP6 NM_130797.4(DPP6):c.674C>T (p.Pro225Leu) SNV Uncertain significance 222553 rs869025384 GRCh37: 7:154429577-154429577
GRCh38: 7:154637867-154637867
29 CACNA1C-AS1 , CACNA1C NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) SNV Uncertain significance 222517 rs869025368 GRCh37: 12:2794954-2794954
GRCh38: 12:2685788-2685788
30 HCN4 NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg) SNV Uncertain significance 427950 rs1555475541 GRCh37: 15:73617346-73617346
GRCh38: 15:73325005-73325005
31 RYR2 NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) SNV Uncertain significance 427951 rs1553341966 GRCh37: 1:237991740-237991740
GRCh38: 1:237828440-237828440
32 MYH7 NM_000257.4(MYH7):c.3853+1G>A SNV Uncertain significance 222733 rs202031879 GRCh37: 14:23888691-23888691
GRCh38: 14:23419482-23419482
33 MYOM1 NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) SNV Uncertain significance 222744 rs755409090 GRCh37: 18:3116442-3116442
GRCh38: 18:3116444-3116444
34 TNNT2 NM_001276345.2(TNNT2):c.720-4G>T SNV Uncertain significance 43664 rs201753429 GRCh37: 1:201330501-201330501
GRCh38: 1:201361373-201361373
35 AKAP9 NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) SNV Uncertain significance 180263 rs151021935 GRCh37: 7:91682040-91682040
GRCh38: 7:92052726-92052726
36 GPD1L NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) SNV Uncertain significance 180369 rs112122950 GRCh37: 3:32188128-32188128
GRCh38: 3:32146636-32146636
37 RYR2 NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) SNV Uncertain significance 43769 rs200525962 GRCh37: 1:237730032-237730032
GRCh38: 1:237566732-237566732
38 MT-TT m.15923A>G SNV Uncertain significance 39575 rs1556424691 GRCh37: MT:15923-15923
GRCh38: MT:15923-15923
39 NSUN6 , CACNB2 NM_201596.3(CACNB2):c.1399C>T (p.Pro467Ser) SNV Uncertain significance 222519 rs869025370 GRCh37: 10:18827205-18827205
GRCh38: 10:18538276-18538276
40 CACNA1C NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) SNV Uncertain significance 190632 rs786205744 GRCh37: 12:2602424-2602424
GRCh38: 12:2493258-2493258
41 TRPM4 NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val) SNV Uncertain significance 222855 rs780954126 GRCh37: 19:49713975-49713975
GRCh38: 19:49210718-49210718
42 KCNQ1 NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) SNV Uncertain significance 684795 rs1589884210 GRCh37: 11:2466402-2466402
GRCh38: 11:2445172-2445172
43 RYR2 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) SNV Uncertain significance 191483 rs200318013 GRCh37: 1:237787071-237787071
GRCh38: 1:237623771-237623771
44 RYR2 NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) SNV Uncertain significance 161381 rs149514924 GRCh37: 1:237711862-237711862
GRCh38: 1:237548562-237548562
45 KCNH2 NM_172056.2(KCNH2):c.160T>C (p.Tyr54His) SNV Uncertain significance 67223 rs199472843 GRCh37: 7:150671946-150671946
GRCh38: 7:150974858-150974858
46 LOC110121269 , SCN5A NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) Microsatellite Uncertain significance 418944 rs756159737 GRCh37: 3:38622784-38622785
GRCh38: 3:38581293-38581294
47 SCN5A NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) SNV Uncertain significance 67835 rs199473603 GRCh37: 3:38603958-38603958
GRCh38: 3:38562467-38562467
48 PKP2 NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) SNV Uncertain significance 393010 rs746530389 GRCh37: 12:33049598-33049598
GRCh38: 12:32896664-32896664
49 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.2623A>G (p.Met875Val) SNV Uncertain significance 222566 rs370316475 GRCh37: 18:29125972-29125972
GRCh38: 18:31546009-31546009
50 TTR NM_000371.3(TTR):c.370C>T (p.Arg124Cys) SNV Uncertain significance 404412 rs745834030 GRCh37: 18:29178564-29178564
GRCh38: 18:31598601-31598601

Copy number variations for Cardiac Conduction Defect from CNVD:

7 (show all 32)
# CNVD ID Chromosome 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
12.53 SCN5A SCN1B RYR2 MYH6 MYBPC3 KCNQ1
2
Show member pathways
12 SCN5A SCN1B RYR2 MYH7 MYH6 KCNQ1
3 11.9 RYR2 LMNA DSP DSG2 CACNA1C
4
Show member pathways
11.9 RYR2 MYH7 MYH6 MYBPC3 LMNA CACNA1C
5 11.84 SCN5A RYR2 KCNQ1
6
Show member pathways
11.67 LMNA DSP DSG2
7 11.64 RYR2 MYH7 MYH6 CACNA1C
8
Show member pathways
11.54 SCN5A SCN1B KCNQ1 CACNA1C
9 10.92 SCN5A SCN1B RYR2 LMNA KCNQ1 DSP

GO Terms for Cardiac Conduction Defect

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.62 SCN5A RYR2 FLNC CACNA1C
2 lateral plasma membrane GO:0016328 9.58 SCN5A KCNQ1 DSG2
3 T-tubule GO:0030315 9.54 SCN5A SCN1B CACNA1C
4 desmosome GO:0030057 9.49 DSP DSG2
5 voltage-gated sodium channel complex GO:0001518 9.48 SCN5A SCN1B
6 muscle myosin complex GO:0005859 9.46 MYH7 MYH6
7 sarcomere GO:0030017 9.46 RYR2 MYH7 MYH6 MYBPC3
8 sodium channel complex GO:0034706 9.43 TRPM4 SCN1B
9 myosin filament GO:0032982 9.43 MYH7 MYH6 MYBPC3
10 intercalated disc GO:0014704 9.26 SCN5A SCN1B DSP DSG2
11 Z disc GO:0030018 9.1 SCN5A RYR2 MYH7 MYH6 FLNC CACNA1C

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.04 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
2 ion transport GO:0006811 10.04 TRPM4 SCN5A SCN1B RYR2 KCNQ1 CACNA1C
3 ion transmembrane transport GO:0034220 9.93 TRPM4 SCN5A SCN1B RYR2
4 regulation of ion transmembrane transport GO:0034765 9.88 SCN5A SCN1B KCNQ1 CACNA1C
5 calcium ion transport GO:0006816 9.85 TRPM4 RYR2 CACNA1C
6 calcium ion transmembrane transport GO:0070588 9.84 TRPM4 RYR2 CACNA1C
7 muscle filament sliding GO:0030049 9.73 MYH7 MYH6 MYBPC3
8 regulation of heart rate GO:0002027 9.71 SCN5A RYR2 MYH7 MYH6
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 MYH7 MYH6 MYBPC3
10 positive regulation of heart rate GO:0010460 9.69 TRPM4 RYR2 KCNQ1
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 RYR2 CACNA1C
12 membrane depolarization GO:0051899 9.67 SCN5A SCN1B
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 SCN5A SCN1B KCNQ1
14 regulation of the force of heart contraction GO:0002026 9.66 MYH7 MYH6
15 positive regulation of sodium ion transport GO:0010765 9.65 SCN5A SCN1B
16 striated muscle contraction GO:0006941 9.65 MYH7 MYH6
17 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.65 RYR2 CACNA1C
18 ventricular cardiac muscle cell action potential GO:0086005 9.65 SCN5A RYR2 KCNQ1
19 cardiac conduction GO:0061337 9.65 TRPM4 SCN5A SCN1B KCNQ1 CACNA1C
20 calcium ion transport into cytosol GO:0060402 9.64 RYR2 CACNA1C
21 cellular response to epinephrine stimulus GO:0071872 9.63 RYR2 KCNQ1
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 SCN5A SCN1B CACNA1C
23 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH7 MYH6
24 adult heart development GO:0007512 9.62 MYH7 MYH6
25 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A KCNQ1
26 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 SCN5A SCN1B
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.61 SCN5A SCN1B CACNA1C
28 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.6 DSP DSG2
29 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.59 SCN5A KCNQ1
30 desmosome organization GO:0002934 9.58 DSP DSG2
31 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.55 SCN5A CACNA1C
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.55 TRPM4 RYR2 DSP DSG2 CACNA1C
33 membrane depolarization during bundle of His cell action potential GO:0086048 9.54 TRPM4 SCN5A
34 membrane depolarization during AV node cell action potential GO:0086045 9.54 TRPM4 SCN5A CACNA1C
35 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.5 TRPM4 SCN5A SCN1B
36 cardiac muscle contraction GO:0060048 9.5 SCN5A SCN1B RYR2 MYH7 MYH6 MYBPC3
37 regulation of heart rate by cardiac conduction GO:0086091 9.17 TRPM4 SCN5A SCN1B KCNQ1 DSP DSG2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.81 MYH7 MYH6 MYBPC3 FLNC
2 calcium channel activity GO:0005262 9.63 TRPM4 RYR2 CACNA1C
3 voltage-gated ion channel activity GO:0005244 9.62 SCN5A SCN1B KCNQ1 CACNA1C
4 scaffold protein binding GO:0097110 9.61 SCN5A KCNQ1 DSP
5 ion channel binding GO:0044325 9.56 SCN5A SCN1B RYR2 KCNQ1
6 protein kinase A regulatory subunit binding GO:0034237 9.55 RYR2 KCNQ1
7 actin-dependent ATPase activity GO:0030898 9.54 MYH7 MYH6
8 voltage-gated sodium channel activity GO:0005248 9.52 SCN5A SCN1B
9 ankyrin binding GO:0030506 9.49 SCN5A FLNC
10 protein kinase A catalytic subunit binding GO:0034236 9.48 RYR2 KCNQ1
11 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.4 DSP DSG2
12 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN5A SCN1B
13 ion channel activity GO:0005216 9.35 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
14 calmodulin binding GO:0005516 9.17 TRPM4 SCN5A RYR2 MYH7 MYH6 KCNQ1
15 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.16 SCN5A SCN1B

Sources for Cardiac Conduction Defect

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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