SCD
MCID: CRD132
MIFTS: 60

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 73 29 6 71
Cardiac Conduction Defect, Susceptibility to 57 13 6
Conduction Disorder of the Heart 71
Cardiac Conduction Disease 6
Death, Sudden, Cardiac 44
Death Sudden Cardiac 54
Scd 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiac conduction defect:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 115080
MeSH 44 D016757
UMLS 71 C0085298 C0264886

Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : 73 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 Racepinephrine and Epinephrine 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 612)
# 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 10 32.0 SCN5A KCNQ1
4 holt-oram syndrome 31.9 MYH7 MYH6 LMNA
5 long qt syndrome 15 31.9 SCN1B CACNA1C
6 long qt syndrome 11 31.8 KCNQ1 CACNA1C
7 long qt syndrome 12 31.7 SCN5A KCNQ1 KCNH2
8 long qt syndrome 13 31.7 SCN5A KCNQ1 KCNH2
9 cardiomyopathy, familial hypertrophic, 4 31.6 MYH7 MYBPC3
10 wolff-parkinson-white syndrome 31.4 SCN5A MYH7 MYH6 MYBPC3 KCNQ1
11 long qt syndrome 5 31.4 SCN5A KCNQ1 KCNH2 CACNA1C
12 long qt syndrome 6 31.4 SCN5A KCNQ1 KCNH2 CACNA1C
13 long qt syndrome 14 31.3 SCN5A KCNQ1 KCNH2 CACNA1C
14 long qt syndrome 9 31.3 SCN5A KCNQ1 KCNH2 CACNA1C
15 cardiac arrhythmia, ankyrin-b-related 31.3 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
16 short qt syndrome 31.2 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
17 andersen cardiodysrhythmic periodic paralysis 31.2 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
18 familial long qt syndrome 30.6 SCN5A KCNQ1 KCNH2 DSP
19 mitral valve insufficiency 30.6 MYH7 MYH6 MYBPC3
20 laminopathy 30.5 SCN5A LMNA
21 atrial heart septal defect 30.5 SCN5A MYH7 MYH6
22 familial short qt syndrome 30.5 KCNQ1 KCNH2
23 sudden infant death syndrome 30.4 SCN5A SCN1B RYR2 KCNQ1 KCNH2
24 tetralogy of fallot 30.3 SCN5A RYR2 MYH6 KCNH2
25 aortic valve disease 2 30.2 MYH7 MYH6 MYBPC3
26 left bundle branch hemiblock 30.1 SCN5A RYR2 LMNA DSP
27 arrhythmogenic right ventricular dysplasia, familial, 1 30.0 RYR2 MYBPC3 DSP
28 brugada syndrome 1 29.9 SCN5A RYR2 MYBPC3 KCNH2
29 syncope 29.9 SCN5A RYR2 KCNQ1 KCNH2
30 danon disease 29.9 MYH7 MYH6 MYBPC3
31 cardiomyopathy, dilated, 1e 29.8 SCN5A MYH7 LMNA DSP
32 patent foramen ovale 29.8 TRPM4 MYH6 FLNC-AS1
33 second-degree atrioventricular block 29.8 SCN5A HCN4
34 cardiomyopathy, familial hypertrophic, 1 29.8 SCN5A RYR2 MYH7 MYH6 MYBPC3 LMNA
35 brugada syndrome 4 29.8 SCN5A KCNQ1 KCNH2 CACNA1C
36 first-degree atrioventricular block 29.7 SCN5A MYH7 LMNA KCNH2
37 sick sinus syndrome 29.7 SCN5A SCN1B MYH6 LMNA HCN4 CACNA1C
38 familial sick sinus syndrome 29.6 SCN5A MYH6 HCN4
39 chromosome 2q35 duplication syndrome 29.6 KCNQ1 KCNH2 CACNA1C
40 jervell and lange-nielsen syndrome 1 29.6 SCN5A KCNQ1 KCNH2 CACNA1C
41 timothy syndrome 29.5 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
42 cardiac arrhythmia 29.5 SCN5A SCN1B RYR2 KCNQ1 KCNH2 HCN4
43 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 29.5 SCN5A RYR2 MYH7 KCNQ1 KCNH2 DSP
44 long qt syndrome 2 29.4 SCN5A SCN1B RYR2 MYH7 MYH6 MYBPC3
45 progressive familial heart block 29.3 TRPM4 SCN5A SCN1B RYR2 MYH7 MYH6
46 third-degree atrioventricular block 29.3 SCN5A SCN1B KCNH2 HCN4
47 long qt syndrome 3 29.2 SCN5A SCN1B RYR2 KCNQ1 KCNH2 CACNA1C
48 congestive heart failure 29.1 SCN5A RYR2 MYH7 MYH6 KCNQ1 CACNA1C
49 atrial fibrillation 29.1 SCN5A SCN1B RYR2 MYH7 MYBPC3 LMNA
50 right bundle branch block 29.0 TRPM4 SCN5A SCN1B KCNH2 HCN4 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 05-Mar-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 05-Mar-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 10.13 AKAP10 CACNA1C DSP HCN4 KCNH2 KCNQ1
2 growth/size/body region MP:0005378 10 AKAP10 CACNA1C DSP KCNH2 KCNQ1 LMNA
3 mortality/aging MP:0010768 9.9 AKAP10 CACNA1C DSP HCN4 KCNH2 LMNA
4 muscle MP:0005369 9.7 CACNA1C DSP HCN4 KCNH2 KCNQ1 LMNA
5 normal MP:0002873 9.17 HCN4 KCNQ1 LMNA MYH7 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 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3 Omega 3 Fatty Acid Phase 4
4 Platelet Aggregation Inhibitors Phase 4
5 Eicosapentaenoic acid ethyl ester Phase 4
6 Epinephryl borate Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Respiratory System Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Adrenergic beta-Agonists Phase 4
11 Mydriatics Phase 4
12 Adrenergic Agonists Phase 4
13 Bronchodilator Agents Phase 4
14 Sympathomimetics Phase 4
15 Vasoconstrictor Agents Phase 4
16
Ranolazine Approved, Investigational Phase 3 95635-55-5, 142387-99-3 56959
17
Chlorthalidone Approved Phase 3 77-36-1 2732
18
Hydrochlorothiazide Approved, Vet_approved Phase 3 58-93-5 3639
19
Triamterene Approved Phase 3 396-01-0 5546
20
Quinidine Approved, Investigational Phase 3 56-54-2 441074
21
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
22
Imipramine Approved Phase 3 50-49-7 3696
23
Procainamide Approved Phase 3 51-06-9 4913
24
Propranolol Approved, Investigational Phase 3 525-66-6 4946
25 Antihypertensive Agents Phase 3
26 Cholinergic Agents Phase 3
27 Olive Phase 3
28 Psychotropic Drugs Phase 3
29 Sodium Chloride Symporter Inhibitors Phase 3
30 Adrenergic alpha-Antagonists Phase 3
31 Quinidine gluconate Phase 3
32 Antiparasitic Agents Phase 3
33 Cholinergic Antagonists Phase 3
34 Antiprotozoal Agents Phase 3
35 Anti-Infective Agents Phase 3
36 Muscarinic Antagonists Phase 3
37 Antimalarials Phase 3
38 Antidepressive Agents, Tricyclic Phase 3
39
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
40
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
42
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
43
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
44 Nutrients Phase 2
45 Micronutrients Phase 2
46 Vitamin D2 Phase 2
47 Ergocalciferols Phase 2
48 Vitamins Phase 2
49 Trace Elements Phase 2
50 Calciferol Phase 2

Interventional clinical trials:

(show top 50) (show all 247)
# 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 Phase 4 Study That Compares the DFT (Defibrillation Threshold) Efficacy of 3 Different Membrane Time Constant Based Biphasic Defibrillation Waveforms Completed NCT00311181 Phase 4
3 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)
4 Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications Completed NCT00560768 Phase 4
5 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
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 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
11 LUcas Continuous Chest Compressions in Out-of-hospital Cardiac Arrest Treatment. The LUCAT Trial Unknown status NCT01521208 Phase 3
12 Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability (HDHP) During the Early Period of Post-resuscitation Shock Unknown status NCT00780299 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 Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Completed NCT00000609 Phase 3 amiodarone
16 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)
17 Coronary Artery Bypass Graft (CABG) Patch Trial Completed NCT00000540 Phase 3
18 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
19 Public Access Defibrillation (PAD) Community Trial Completed NCT00004560 Phase 3
20 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
21 Diuretics, Hypertension, and Arrhythmias Clinical Trial Completed NCT00000525 Phase 3 hydrochlorothiazide;triamterene;chlorthalidone
22 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
23 Beta-Blocker Heart Attack Trial (BHAT) Completed NCT00000492 Phase 3 propranolol
24 Multicenter Unsustained Tachycardia Trial (MUSTT) Completed NCT00000480 Phase 3 anti-arrhythmia agents
25 Home Automatic External Defibrillator Trial -- HAT Completed NCT00047411 Phase 3
26 Cardiac Arrhythmia Suppression Trial (CAST) Completed NCT00000526 Phase 3 encainide;flecainide;moricizine
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 Stratification in End Stage Renal Disease (ISAR) Unknown status NCT01152892
39 Electrophysiologic and Morphologic Assessment of the Substrate to Guide Implantation of Defibrillators in Dilated Cardiomyopathy Unknown status NCT01378572
40 Risk Assessment of Cardiac ARrhythmias in Patients With MYocarditis Unknown status NCT03801681
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 Sudden Cardiac Death: Evaluation of a New Strategy to Identify Young Adults at Risk Unknown status NCT01845909
44 Finnish Genetic Study for Arrhythmic Events Unknown status NCT02075866
45 Register About Change of hsTROPoninT After Implantation of a Subcutaneous Implantable Cardioverter-Defibrillator Unknown status NCT03526302
46 Subcutaneous ICD Therapy Combined With VT Ablation for the Secondary Prevention of Sudden Cardiac Death Unknown status NCT03622307
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, Lung, Liver, Endothelial, Cardiac Myocytes

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 15404)
# Title Authors PMID Year
1
Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. 61 6 57
17485678 2007
2
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. 57 6
12646697 2003
3
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 61 6
18464934 2008
4
Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. 57 61
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. 57 61
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. 54 61
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. 61 54
19880069 2009
25
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 61 54
19477965 2009
26
Brain natriuretic peptide for the prediction of sudden cardiac death and ventricular arrhythmias: a meta-analysis. 61 54
19789399 2009
27
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
28
Cardiac ankyrins in health and disease. 61 54
19394342 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. 61 54
19668779 2009
31
Role of coupled gating between cardiac ryanodine receptors in the genesis of triggered arrhythmias. 54 61
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. 61 54
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. 61 54
19328042 2009
34
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 61 54
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. 61 54
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. 54 61
18701618 2008
38
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 61 54
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. 61 54
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. 61 54
17644563 2007
44
Long QT and Brugada syndrome gene mutations in New Zealand. 54 61
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. 54 61
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. 61 54
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 84)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) Indel Pathogenic 418788 rs1064793435 6:7567596-7567601 6:7567363-7567368
2 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic 374137 rs1057518920 6:7575619-7575619 6:7575386-7575386
3 SCN1B NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) SNV Pathogenic 9255 rs121434627 19:35524454-35524454 19:35033550-35033550
4 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
5 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) SNV Pathogenic 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
6 SCN1B NM_001037.5(SCN1B):c.448+89G>A SNV Pathogenic 9256 rs267607029 19:35524732-35524732 19:35033828-35033828
7 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) SNV Pathogenic 36604 rs36211723 11:47360071-47360071 11:47338520-47338520
8 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Likely pathogenic 14151 rs143978652 14:23862646-23862646 14:23393437-23393437
9 TRPM4 NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) SNV Likely pathogenic 241176 rs71352737 19:49686146-49686146 19:49182889-49182889
10 HCN4 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) SNV Likely pathogenic 190772 rs62641689 15:73616159-73616159 15:73323818-73323818
11 CEP85L NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Likely pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037
12 MYH7 NM_000257.4(MYH7):c.345+1G>A SNV Likely pathogenic 862006 14:23902292-23902292 14:23433083-23433083
13 SCN5A NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) SNV Likely pathogenic 684784 rs1575703249 3:38591966-38591966 3:38550475-38550475
14 RYR2 NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) SNV Likely pathogenic 978366 1:237870516-237870516 1:237707216-237707216
15 RYR2 NM_001035.3(RYR2):c.243G>A (p.Met81Ile) SNV Likely pathogenic 684806 rs1572627115 1:237494252-237494252 1:237330952-237330952
16 LMNA NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) Indel Likely pathogenic 222695 rs869025458 1:156085063-156085064 1:156115272-156115273
17 AKAP10 NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val) SNV risk factor 5404 rs203462 17:19812541-19812541 17:19909228-19909228
18 FLNC-AS1 NM_001458.5(FLNC):c.5685del (p.Val1896fs) Deletion Likely pathogenic 978274 7:128491524-128491524 7:128851470-128851470
19 CACNA1C NM_000719.7(CACNA1C):c.32del (p.Pro11fs) Deletion Likely pathogenic 978276 12:2162759-2162759 12:2053593-2053593
20 MYH7 NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu) SNV Uncertain significance 978280 14:23886178-23886178 14:23416969-23416969
21 TTN-AS1 NM_001267550.2(TTN):c.61447_61449del (p.Arg20483del) Deletion Uncertain significance 978283 2:179455003-179455005 2:178590276-178590278
22 ANK2 NM_001148.6(ANK2):c.9173G>A (p.Arg3058His) SNV Uncertain significance 180273 rs730880048 4:114278947-114278947 4:113357791-113357791
23 SCN3B NM_018400.3(SCN3B):c.587C>G (p.Ser196Cys) SNV Uncertain significance 222800 rs777776827 11:123504912-123504912 11:123634204-123634204
24 ANK2 NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) SNV Uncertain significance 684796 rs770289485 4:114279019-114279019 4:113357863-113357863
25 CACNA1C NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) SNV Uncertain significance 190632 rs786205744 12:2602424-2602424 12:2493258-2493258
26 NSUN6 NM_201596.3(CACNB2):c.1399C>T (p.Pro467Ser) SNV Uncertain significance 222519 rs869025370 10:18827205-18827205 10:18538276-18538276
27 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) SNV Uncertain significance 222517 rs869025368 12:2794954-2794954 12:2685788-2685788
28 TRPM4 NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val) SNV Uncertain significance 222855 rs780954126 19:49713975-49713975 19:49210718-49210718
29 TRPM4 NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) SNV Uncertain significance 222853 rs547541099 19:49691980-49691980 19:49188723-49188723
30 DPP6 NM_130797.4(DPP6):c.674C>T (p.Pro225Leu) SNV Uncertain significance 222553 rs869025384 7:154429577-154429577 7:154637867-154637867
31 HCN4 NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg) SNV Uncertain significance 427950 rs1555475541 15:73617346-73617346 15:73325005-73325005
32 RYR2 NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) SNV Uncertain significance 427951 rs1553341966 1:237991740-237991740 1:237828440-237828440
33 KCNQ1 NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) SNV Uncertain significance 684795 rs1589884210 11:2466402-2466402 11:2445172-2445172
34 ANK2 NM_001148.6(ANK2):c.2735A>G (p.His912Arg) SNV Uncertain significance 978369 4:114238904-114238904 4:113317748-113317748
35 RYR2 NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) SNV Uncertain significance 229220 rs767728159 1:237777844-237777844 1:237614544-237614544
36 MYH6 NM_002471.3(MYH6):c.4060G>A (p.Glu1354Lys) SNV Uncertain significance 684804 rs1595052281 14:23858183-23858183 14:23388974-23388974
37 DMD NM_004006.3(DMD):c.1603G>A (p.Val535Ile) SNV Uncertain significance 978344 X:32591963-32591963 X:32573846-32573846
38 CASQ2 NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) SNV Uncertain significance 978365 1:116287479-116287479 1:115744858-115744858
39 NEBL NM_213569.2(NEBL):c.529+4114G>T SNV Uncertain significance 222752 rs869025491 10:21097584-21097584 10:20808655-20808655
40 CACNA1C NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) SNV Uncertain significance 492985 rs755846732 12:2675661-2675661 12:2566495-2566495
41 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) SNV Uncertain significance 68032 rs199473072 3:38655264-38655264 3:38613773-38613773
42 AKAP9 NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) SNV Uncertain significance 180263 rs151021935 7:91682040-91682040 7:92052726-92052726
43 GPD1L NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) SNV Uncertain significance 180369 rs112122950 3:32188128-32188128 3:32146636-32146636
44 RYR2 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) SNV Uncertain significance 191483 rs200318013 1:237787071-237787071 1:237623771-237623771
45 MYH7 NM_000257.4(MYH7):c.3853+1G>A SNV Uncertain significance 222733 rs202031879 14:23888691-23888691 14:23419482-23419482
46 MYOM1 NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) SNV Uncertain significance 222744 rs755409090 18:3116442-3116442 18:3116444-3116444
47 TNNT2 NM_001276345.2(TNNT2):c.720-4G>T SNV Uncertain significance 43664 rs201753429 1:201330501-201330501 1:201361373-201361373
48 ANK2 NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) SNV Uncertain significance 18056 rs72544141 4:114269433-114269433 4:113348277-113348277
49 MYH6 NM_002471.3(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) Indel Uncertain significance 239179 rs878854502 14:23853739-23853740 14:23384530-23384531
50 MYH7 NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) SNV Uncertain significance 660218 rs1595073523 14:23885410-23885410 14:23416201-23416201

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
12.29 SCN5A SCN1B RYR2 MYH6 MYBPC3 KCNQ1
2
Show member pathways
12.2 SCN5A SCN1B RYR2 MYH7 MYH6 KCNQ1
3
Show member pathways
12 RYR2 MYH7 MYH6 MYBPC3 LMNA CACNA1C
4 11.94 SCN5A RYR2 KCNQ1 KCNH2
5 11.89 RYR2 LMNA DSP CACNA1C
6
Show member pathways
11.82 KCNQ1 KCNH2 HCN4
7 11.61 RYR2 MYH7 MYH6 CACNA1C
8
Show member pathways
11.5 SCN5A SCN1B KCNQ1 CACNA1C
9 11.02 SCN5A SCN1B RYR2 LMNA KCNQ1 KCNH2
10 10.74 KCNQ1 HCN4

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 sarcolemma GO:0042383 9.61 SCN5A RYR2 CACNA1C
2 intercalated disc GO:0014704 9.5 SCN5A SCN1B DSP
3 voltage-gated sodium channel complex GO:0001518 9.46 SCN5A SCN1B
4 T-tubule GO:0030315 9.43 SCN5A SCN1B CACNA1C
5 muscle myosin complex GO:0005859 9.4 MYH7 MYH6
6 sodium channel complex GO:0034706 9.37 TRPM4 SCN1B
7 myosin filament GO:0032982 9.33 MYH7 MYH6 MYBPC3
8 sarcomere GO:0030017 9.26 RYR2 MYH7 MYH6 MYBPC3
9 Z disc GO:0030018 9.02 SCN5A RYR2 MYH7 MYH6 CACNA1C

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.1 TRPM4 SCN5A SCN1B RYR2 KCNQ1 KCNH2
2 transmembrane transport GO:0055085 10.07 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 HCN4
3 ion transmembrane transport GO:0034220 9.97 TRPM4 SCN5A SCN1B RYR2 KCNH2
4 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A SCN1B KCNQ1 KCNH2 HCN4 CACNA1C
5 potassium ion transport GO:0006813 9.89 KCNQ1 KCNH2 HCN4
6 potassium ion transmembrane transport GO:0071805 9.88 KCNQ1 KCNH2 HCN4
7 calcium ion transport GO:0006816 9.88 TRPM4 RYR2 CACNA1C
8 calcium ion transmembrane transport GO:0070588 9.88 TRPM4 RYR2 CACNA1C
9 sodium ion transport GO:0006814 9.87 SCN5A SCN1B HCN4
10 regulation of membrane potential GO:0042391 9.86 TRPM4 KCNH2 HCN4
11 muscle contraction GO:0006936 9.85 MYH7 MYH6 HCN4
12 sodium ion transmembrane transport GO:0035725 9.85 SCN5A SCN1B HCN4
13 muscle filament sliding GO:0030049 9.77 MYH7 MYH6 MYBPC3
14 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.76 SCN5A SCN1B KCNQ1 KCNH2
15 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 MYH7 MYH6 MYBPC3
16 positive regulation of heart rate GO:0010460 9.72 TRPM4 RYR2 KCNQ1
17 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.71 RYR2 CACNA1C
18 regulation of cardiac muscle contraction GO:0055117 9.71 RYR2 HCN4
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 SCN5A SCN1B CACNA1C
20 ventricular cardiac muscle cell action potential GO:0086005 9.71 SCN5A RYR2 KCNQ1 KCNH2
21 membrane depolarization GO:0051899 9.7 SCN5A SCN1B
22 regulation of the force of heart contraction GO:0002026 9.7 MYH7 MYH6
23 sodium ion import across plasma membrane GO:0098719 9.69 TRPM4 HCN4
24 membrane depolarization during action potential GO:0086010 9.69 SCN5A KCNH2
25 positive regulation of sodium ion transport GO:0010765 9.69 SCN5A SCN1B
26 membrane depolarization during AV node cell action potential GO:0086045 9.69 TRPM4 SCN5A CACNA1C
27 striated muscle contraction GO:0006941 9.68 MYH7 MYH6
28 potassium ion export across plasma membrane GO:0097623 9.68 KCNQ1 KCNH2
29 positive regulation of potassium ion transmembrane transport GO:1901381 9.67 KCNQ1 KCNH2
30 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.67 RYR2 CACNA1C
31 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 SCN5A SCN1B HCN4 CACNA1C
32 calcium ion transport into cytosol GO:0060402 9.66 RYR2 CACNA1C
33 cellular response to epinephrine stimulus GO:0071872 9.66 RYR2 KCNQ1
34 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MYH7 MYH6
35 adult heart development GO:0007512 9.65 MYH7 MYH6
36 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.65 KCNQ1 KCNH2
37 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.65 TRPM4 SCN5A SCN1B
38 regulation of heart rate GO:0002027 9.65 SCN5A RYR2 MYH7 MYH6 HCN4
39 membrane repolarization GO:0086009 9.64 KCNQ1 KCNH2
40 regulation of membrane repolarization GO:0060306 9.64 KCNQ1 KCNH2
41 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.63 KCNQ1 KCNH2
42 atrial cardiac muscle cell action potential GO:0086014 9.63 SCN5A KCNQ1
43 cardiac conduction GO:0061337 9.63 TRPM4 SCN5A SCN1B KCNQ1 KCNH2 CACNA1C
44 membrane repolarization during action potential GO:0086011 9.62 KCNQ1 KCNH2
45 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.62 SCN5A SCN1B
46 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.62 TRPM4 RYR2 DSP CACNA1C
47 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 SCN5A KCNQ1
48 membrane depolarization during SA node cell action potential GO:0086046 9.61 SCN5A HCN4
49 SA node cell action potential GO:0086015 9.6 SCN5A HCN4
50 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.58 SCN5A CACNA1C

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.73 SCN5A SCN1B RYR2 KCNQ1
2 calcium channel activity GO:0005262 9.7 TRPM4 RYR2 CACNA1C
3 potassium channel activity GO:0005267 9.69 KCNQ1 KCNH2 HCN4
4 voltage-gated potassium channel activity GO:0005249 9.67 KCNQ1 KCNH2 HCN4
5 voltage-gated ion channel activity GO:0005244 9.63 SCN5A SCN1B KCNQ1 KCNH2 HCN4 CACNA1C
6 sodium channel activity GO:0005272 9.58 SCN5A SCN1B HCN4
7 protein kinase A regulatory subunit binding GO:0034237 9.57 RYR2 KCNQ1
8 actin-dependent ATPase activity GO:0030898 9.56 MYH7 MYH6
9 scaffold protein binding GO:0097110 9.56 SCN5A KCNQ1 KCNH2 DSP
10 protein kinase A catalytic subunit binding GO:0034236 9.55 RYR2 KCNQ1
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.54 KCNQ1 KCNH2
12 voltage-gated sodium channel activity GO:0005248 9.5 SCN5A SCN1B HCN4
13 calmodulin binding GO:0005516 9.5 TRPM4 SCN5A RYR2 MYH7 MYH6 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.48 KCNQ1 KCNH2
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.46 SCN5A SCN1B
16 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.37 SCN5A SCN1B
17 ion channel activity GO:0005216 9.17 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 HCN4

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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