LQT
MCID: LNG028
MIFTS: 64

Long Qt Syndrome (LQT)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 12 74 25 20 36 29 54 6 44 15 37 62 71
Romano-Ward Syndrome 12 71
Long Q-T Syndrome 12 6
Qt Syndrome, Long 39
Lqt 12

Characteristics:

GeneReviews:

25
Penetrance Lqts exhibits reduced penetrance of the ecg changes and symptoms. overall, approximately 25% of individuals with a pathogenic variant have a normal qtc (defined as <440 msec) on baseline ecg. the percentage of genetically affected individuals with a normal qtc was higher in the lqts type 1 group (36%) than in the lqts type 2 group (19%) or type 3 group (10%) [priori et al 2003, goldenberg et al 2011]....

Classifications:



External Ids:

Disease Ontology 12 DOID:2843
KEGG 36 H00720
ICD9CM 34 426.82
MeSH 44 D008133
NCIt 50 C34786
SNOMED-CT 67 20852007 9651007
ICD10 32 I45.81
UMLS 71 C0023976 C0035828

Summaries for Long Qt Syndrome

KEGG : 36 Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome is characterized by an autosomal-dominant inheritance without familial deafness. The Jervell and Lange-Nielsen syndrome (JLNS) has an autosomal-recessive pattern of inheritance and is associated with deafness.

MalaCards based summary : Long Qt Syndrome, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Adrenergic signaling in cardiomyocytes and Oxytocin signaling pathway. The drugs Prednisone and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and cardiac myocytes, and related phenotypes are cardiovascular system and muscle

Disease Ontology : 12 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).

GARD : 20 Long QT syndrome is a disorder of the heart's electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions.

PubMed Health : 62 About long qt syndrome: Long QT syndrome (LQTS) is a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmias (ah-RITH-me-ahs) in response to exercise or stress. Arrhythmias are problems with the rate or rhythm of the heartbeat. People who have LQTS also can have arrhythmias for no known reason. However, not everyone who has LQTS has dangerous heart rhythms. When they do occur, though, they can be fatal.

Wikipedia : 74 Long QT syndrome (LQTS) is a condition in which repolarization of the heart after a heartbeat is... more...

GeneReviews: NBK1129

Related Diseases for Long Qt Syndrome

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 312)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 34.3 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
2 long qt syndrome 1 34.2 SNTA1 SCN5A RYR2 RNF207 MYBPC3 KCNQ1OT1
3 long qt syndrome 3 34.1 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
4 long qt syndrome 5 34.0 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
5 long qt syndrome 9 34.0 SSUH2 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2
6 long qt syndrome 6 34.0 SNTA1 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2
7 andersen cardiodysrhythmic periodic paralysis 33.9 SNTA1 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2
8 cardiac arrhythmia, ankyrin-b-related 33.9 SNTA1 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2
9 timothy syndrome 33.9 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
10 long qt syndrome 11 33.8 SNTA1 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
11 long qt syndrome 13 33.8 SNTA1 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2
12 long qt syndrome 12 33.8 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
13 long qt syndrome 10 33.8 SNTA1 SCN5A KCNQ1 KCNJ2 KCNE2 KCNE1
14 long qt syndrome 14 33.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
15 familial long qt syndrome 33.6 SNTA1 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
16 long qt syndrome 15 33.6 KCNJ2 KCNE1 CACNA1C
17 jervell and lange-nielsen syndrome 1 33.6 SNTA1 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2
18 syncope 32.8 SCN5A RYR2 KCNQ1 KCNH2
19 cardiac conduction defect 32.6 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 CACNA1C
20 ventricular fibrillation, paroxysmal familial, 1 32.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
21 cardiac arrest 32.5 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 ANK2
22 ventricular tachycardia, catecholaminergic polymorphic, 3 32.4 RYR2 KCNJ2
23 atrioventricular block 32.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
24 brugada syndrome 32.3 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1-AS1 KCNQ1
25 cardiac arrhythmia 32.2 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
26 catecholaminergic polymorphic ventricular tachycardia 32.1 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
27 sudden infant death syndrome 32.0 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
28 hypertrophic cardiomyopathy 31.9 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2 KCNH2
29 hypokalemia 31.8 KCNQ1 KCNJ5 KCNH2
30 dilated cardiomyopathy 31.7 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
31 short qt syndrome 31.7 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2
32 atrial fibrillation 31.7 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
33 sick sinus syndrome 31.7 SNTA1 SCN5A CACNA1C ANK2
34 sinoatrial node disease 31.7 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CACNA1C
35 arrhythmogenic right ventricular cardiomyopathy 31.6 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
36 heart disease 31.4 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
37 left ventricular noncompaction 31.4 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
38 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
39 familial atrial fibrillation 31.4 SNTA1 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1
40 chromosome 2q35 duplication syndrome 31.4 KCNQ1 KCNJ2 KCNH2 CACNA1C
41 progressive familial heart block, type ia 31.3 SCN5A ANK2
42 right bundle branch block 31.2 SCN5A KCNH2 CACNA1C
43 familial short qt syndrome 31.2 KCNQ1 KCNJ2 KCNH2
44 brugada syndrome 1 31.1 SCN5A RYR2 MYBPC3 KCNH2 AKAP9
45 lipoprotein quantitative trait locus 31.0 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
46 congestive heart failure 31.0 SCN5A RYR2 KCNQ1 CACNA1C
47 cardiomyopathy, familial hypertrophic, 1 31.0 SCN5A RYR2 MYBPC3 KCNH2 CAV3 CACNA1C
48 atrial fibrillation, familial, 3 30.9 KCNQ1OT1 KCNQ1-AS1 KCNQ1
49 properdin deficiency, x-linked 30.8 KCNJ2 KCNH2
50 brugada syndrome 4 30.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C

Graphical network of the top 20 diseases related to Long Qt Syndrome:



Diseases related to Long Qt Syndrome

Symptoms & Phenotypes for Long Qt Syndrome

UMLS symptoms related to Long Qt Syndrome:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ABCB8 CACNA1C CAV3 KCNH2 KCNJ2 KCNJ5
2 muscle MP:0005369 9.32 ABCB8 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Long Qt Syndrome

PubMed Health treatment related to Long Qt Syndrome: 62

The goal of treating long QT syndrome (LQTS) is to prevent life-threatening, abnormal heart rhythms and fainting spells. Treatment isn't a cure for the disorder and may not restore a normal QT interval on an EKG (electrocardiogram ). However, treatment greatly improves the chances of survival.

Drugs for Long Qt Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
3
Methadone Approved Phase 4 76-99-3 4095
4
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Testosterone enanthate Approved Phase 4 315-37-7 9416
7
Testosterone Approved, Investigational Phase 4 58-22-0 6013
8
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
9
Ibutilide Approved Phase 4 122647-31-8, 122647-32-9 60753
10
Methyltestosterone Approved Phase 4 58-18-4 6010
11 Respiratory System Agents Phase 4
12 Analgesics Phase 4
13 Anti-Inflammatory Agents Phase 4
14 glucocorticoids Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Anesthetics Phase 4
17 Narcotics Phase 4
18 Antitussive Agents Phase 4
19 Analgesics, Opioid Phase 4
20 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
21 Hormone Antagonists Phase 4
22 Hormones Phase 4
23 Testosterone 17 beta-cypionate Phase 4
24 Progestins Phase 4
25 Anti-Arrhythmia Agents Phase 4
26 Androgens Phase 4
27
Ranolazine Approved, Investigational Phase 2 95635-55-5, 142387-99-3 56959
28
Ivacaftor Approved Phase 2 873054-44-5 16220172
29 Diuretics, Potassium Sparing Phase 2
30 Sodium Channel Blockers Phase 2
31
Moxifloxacin Approved, Investigational Phase 1 151096-09-2, 354812-41-2 152946
32
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
33
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
34
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
35
Mexiletine Approved, Investigational Phase 1 31828-71-4 4178
36
Verapamil Approved Phase 1 52-53-9 2520
37
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
38
chloroquine Approved, Investigational, Vet_approved Phase 1 54-05-7 2719
39
Lopinavir Approved Phase 1 192725-17-0 92727
40 Calcium, Dietary Phase 1
41 Anti-Bacterial Agents Phase 1
42 Antihypertensive Agents Phase 1
43 Vasodilator Agents Phase 1
44 Anti-Infective Agents Phase 1
45 Norgestimate, ethinyl estradiol drug combination Phase 1
46 Potassium Channel Blockers Phase 1
47 Cytochrome P-450 Enzyme Inhibitors Phase 1
48 Antiparasitic Agents Phase 1
49 Antiprotozoal Agents Phase 1
50 Cytochrome P-450 CYP3A Inhibitors Phase 1

Interventional clinical trials:

(show top 50) (show all 71)
# Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
2 Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening: Reducing the Risk of Drug-Induced QT Interval Lengthening in Women Recruiting NCT03834883 Phase 4 Progesterone;Ibutilide
3 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
4 Effect of Methadone and Hydromorphone on the QT Interval After Anesthesia and Surgery Recruiting NCT03893734 Phase 4 methadone;Hydromorphone
5 Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening Not yet recruiting NCT04675788 Phase 4 Progesterone;Ibutilide;Testosterone;Placebo
6 A Phase 3, Single-Blind Study to Evaluate the Effect of Eleclazine (GS-6615) on Shortening of the QT Interval, Safety, and Tolerability in Subjects With Long QT Syndrome Type 3 Terminated NCT02300558 Phase 3 Eleclazine;Eleclazine placebo
7 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
8 ECG Device for Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
9 Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
10 Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
11 Mutation-specific Therapy for the Long QT Syndrome Not yet recruiting NCT04581408 Phase 2 Lumacaftor / Ivacaftor, Orkambi® Oral Tablet
12 A Double-center, Randomized, Double-blinded, 2-way Crossover, Placebo-controlled Study: Comparison of Single Oral Dose 400mg Moxifloxacin-induced QT Prolongation Between Healthy Chinese Volunteers and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
13 An Open-label Study to Evaluate the Effect of Single Dose GS-6615 on QT, Safety and Tolerability in Subjects With Long QT-3 Syndrome Completed NCT01849003 Phase 1 GS-6615
14 A Phase 1, Open-Label, Parallel-Group, Adaptive, Single Dose Study to Evaluate the Pharmacokinetics of GS-6615 in Subjects With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
15 A Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Subjects Completed NCT02365532 Phase 1 GS-6615;Placebo to match GS-6615;Placebo to match dofetilide;Dofetilide
16 A Phase 1 Open-Label, Parallel-Group, Adaptive, Single Dose Study to Evaluate the Pharmacokinetics of GS-6615 in Subjects With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
17 A Randomized, Double-Blind, Placebo and Moxifloxacin (Open-Label) Controlled, 4-Period, Crossover Study of the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
18 Five Period Crossover Study of the Ability of Late Sodium or Calcium Current Block (Mexiletine, Lidocaine, or Diltiazem) to Balance the Electrocardiographic Effects of hERG Potassium Current Block (Dofetilide or Moxifloxacin) Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo
19 A Double-blind, Placebo-controlled Study to Evaluate the Effect of GS-6615 on QT, Safety and Tolerability in Subjects With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
20 Comprehensive in Vitro Proarrhythmia Assay (CiPA) Clinical Phase 1 ECG Biomarker Validation Study (CiPA Phase 1 ECG Biomarker Study) Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
21 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients With KCNQ1 or KCNH2 Mutation Without Long QT Interval in Rest ECG Unknown status NCT01745666
22 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
23 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
24 Hydroxyzine and Risk of Prolongation of QT Interval Unknown status NCT02814981
25 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
26 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
27 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
28 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Completed NCT03544918
29 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
30 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
31 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
32 Further Research on Human Feasibility of a Subcutaneous Implantable Defibrillator (S-ICD)- ECG Signal Collections From Various Patient Groups Whilst Attending Outpatient Follow-up Completed NCT00399412
33 The Long QT Syndrome in Pregnancy Completed NCT00488254
34 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
35 National Long QT Syndrome Registry: Canadian Genetic Heart Rhythm Network |Research Data Registry and Bio Bank Completed NCT02425189
36 Obstructive Sleep Apnea and Cardiac Electrophysiologic Biomarkers of Sudden Cardiac Death Completed NCT03678311
37 Risk of QT-prolongation and Torsade de Pointes in Patients Treated With Acute Medication in a University Hospital Completed NCT02068170 Haloperidol, azi/clari/erythromycin, levo/moxifloxacin, co-trimoxazole, vori/keto/flu/itraconazole, methadone, tacrolimus, sunitinib
38 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
39 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol
40 Epidemiology of Long QTand Asian Sudden Death in Sleep Completed NCT00005367
41 Long QT & Hearing Loss Prospective Study Registry Completed NCT02082431
42 Azitromycin Use in COVID-19 Positive Pediatric Patients; Effect on Ventricle Repolarization Completed NCT04699097 Azithromycin
43 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Completed NCT00292032
44 Linkage Study of Long QT Syndrome In An Amish Kindred Completed NCT00005250
45 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
46 Does Azithromycin Cause QT Prolongation in Hospitalized Patients With Severe Community Acquired Pneumonia? Completed NCT01553734
47 Fetal and Neonatal Magnetophysiology Completed NCT01903564
48 Modulation of QT Interval by Rapid Atrial Pacing in Patients With Dual Chamber Pacemakers Completed NCT00883610
49 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Completed NCT04124237
50 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: long qt syndrome

Genetic Tests for Long Qt Syndrome

Genetic tests related to Long Qt Syndrome:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 29

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

40
Heart, Brain, Cardiac Myocytes, Skeletal Muscle, Kidney, Eye, Liver

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 5116)
# Title Authors PMID Year
1
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 25 61 6
19716085 2009
2
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 6 25 61
15840476 2005
3
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 25 54 61
11710892 2001
4
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. 6 61
10961955 2000
5
Early somatic mosaicism is a rare cause of long-QT syndrome. 61 25
27681629 2016
6
Inherited ion channel diseases: a brief review. 61 25
26842110 2015
7
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 61 25
26132555 2015
8
Genotype- and phenotype-guided management of congenital long QT syndrome. 25 61
24093767 2013
9
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 61 25
23631430 2013
10
Calmodulin mutations associated with recurrent cardiac arrest in infants. 61 25
23388215 2013
11
Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. 25 61
23083782 2012
12
Competitive sports participation in athletes with congenital long QT syndrome. 61 25
22820673 2012
13
Long-QT syndrome: from genetics to management. 25 61
22895603 2012
14
Mortality of inherited arrhythmia syndromes: insight into their natural history. 61 25
22373669 2012
15
The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. 61 25
21699858 2011
16
QTc behavior during exercise and genetic testing for the long-QT syndrome. 25 61
22083145 2011
17
Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. 61 25
22042885 2011
18
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. 61 25
21185499 2011
19
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 25 61
21185501 2011
20
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. 25 61
20541041 2010
21
Identification of a Kir3.4 mutation in congenital long QT syndrome. 61 25
20560207 2010
22
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. 61 25
20116193 2010
23
Risk of fatal arrhythmic events in long QT syndrome patients after syncope. 25 61
20170817 2010
24
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. 61 25
19695463 2009
25
High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures". 25 61
19118258 2009
26
Long QT Syndrome. 25 61
18835466 2008
27
Risk of death in the long QT syndrome when a sibling has died. 25 61
18534367 2008
28
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 61 25
18093912 2007
29
Long QT syndrome and pregnancy. 25 61
17349890 2007
30
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 25 61
17275750 2007
31
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. 61 25
17242276 2007
32
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 25 61
17210839 2007
33
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 25 61
17060380 2006
34
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. 25 61
16012827 2006
35
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. 61 25
16534005 2006
36
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 6
16467215 2006
37
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. 61 25
15367556 2004
38
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. 25 61
15851169 2004
39
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. 61 25
15051644 2004
40
Compound mutations: a common cause of severe long-QT syndrome. 61 25
15051636 2004
41
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. 61 25
14521668 2003
42
Risk stratification in the long-QT syndrome. 61 25
12736279 2003
43
Implantable cardioverter defibrillator in high-risk long QT syndrome patients. 25 61
12741701 2003
44
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 61 25
12566525 2003
45
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 61 25
12571597 2003
46
Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. 25 61
12004990 2002
47
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 61 25
11136691 2001
48
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 25 61
11104743 2000
49
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. 25 61
10673253 2000
50
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 25 61
9753711 1998

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 3639)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Benign, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
2 SLC2A5 NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp) SNV association 207859 rs779760381 1:9099936-9099936 1:9039877-9039877
3 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Likely benign, risk factor 67509 rs36210422 7:150655537-150655537 7:150958449-150958449
4 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) SNV Pathogenic 17632 rs79891110 12:2614110-2614110 12:2504944-2504944
5 KCNH2 NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) SNV Pathogenic 200323 rs770047651 7:150654379-150654379 7:150957291-150957291
6 KCNH2 NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) SNV Pathogenic 220208 rs773724817 7:150645949-150645949 7:150948861-150948861
7 KCNH2 NM_172057.2(KCNH2):c.1755dup (p.Pro586fs) Duplication Pathogenic 200672 rs794728455 7:150644883-150644884 7:150947795-150947796
8 KCNH2 NM_172057.2(KCNH2):c.2074del (p.Arg692fs) Deletion Pathogenic 219924 rs864622309 7:150644474-150644474 7:150947386-150947386
9 KCNH2 NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) SNV Pathogenic 200518 rs794728403 7:150644528-150644528 7:150947440-150947440
10 KCNH2 NM_000238.3(KCNH2):c.3060del (p.Ser1021fs) Deletion Pathogenic 219597 rs864622174 7:150644508-150644508 7:150947420-150947420
11 KCNQ1 NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) SNV Pathogenic 3118 rs120074179 11:2593319-2593319 11:2572089-2572089
12 KCNQ1 NM_181798.1(KCNQ1):c.584C>T (p.Thr195Met) SNV Pathogenic 53151 rs199472755 11:2604708-2604708 11:2583478-2583478
13 KCNQ1 NM_181798.1(KCNQ1):c.204del (p.Lys69fs) Deletion Pathogenic 53076 rs397508120 11:2591964-2591964 11:2570734-2570734
14 KCNH2 NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) Duplication Pathogenic 216047 rs863224478 7:150655561-150655562 7:150958473-150958474
15 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic 67651 rs72549410 3:38647549-38647549 3:38606058-38606058
16 KCNH2 NM_172057.2(KCNH2):c.1880dup (p.Pro628fs) Duplication Pathogenic 188144 rs786204101 7:150644758-150644759 7:150947670-150947671
17 KCNQ1 NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val) SNV Pathogenic 3121 rs12720459 11:2604765-2604765 11:2583535-2583535
18 KCNQ1 NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) SNV Pathogenic 37255 rs151344631 11:2592563-2592563 11:2571333-2571333
19 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) SNV Pathogenic 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
20 KCNQ1 NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) SNV Pathogenic 53061 rs120074177 11:2591912-2591912 11:2570682-2570682
21 KCNQ1 NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del) Microsatellite Pathogenic 52930 rs397508068 11:2604757-2604759 11:2583527-2583529
22 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=) SNV Pathogenic 3135 rs1800171 11:2604775-2604775 11:2583545-2583545
23 KCNQ1 NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg) SNV Pathogenic 52940 rs199473471 11:2606442-2606442 11:2585212-2585212
24 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
25 KCNQ1 NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter) SNV Pathogenic 52950 rs397508075 11:2606484-2606484 11:2585254-2585254
26 KCNQ1 NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) SNV Pathogenic 52955 rs199473411 11:2606505-2606505 11:2585275-2585275
27 KCNQ1 NM_181798.1(KCNQ1):c.884del (p.Lys295fs) Deletion Pathogenic 52973 rs397508083 11:2609949-2609949 11:2588719-2588719
28 KCNQ1 NM_181798.1(KCNQ1):c.962dup (p.Glu322fs) Duplication Pathogenic 52978 rs397508087 11:2610028-2610029 11:2588798-2588799
29 KCNQ1 NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter) SNV Pathogenic 52989 rs397508096 11:2466481-2466481 11:2445251-2445251
30 KCNQ1 NM_181798.1(KCNQ1):c.759G>T (p.Arg253Ser) SNV Pathogenic 52964 rs199472771 11:2608811-2608811 11:2587581-2587581
31 KCNQ1 NM_181798.1(KCNQ1):c.1178T>G (p.Met393Arg) SNV Pathogenic 52993 rs199473479 11:2790118-2790118 11:2768888-2768888
32 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
33 KCNQ1 NM_181798.1(KCNQ1):c.1256C>T (p.Ser419Leu) SNV Pathogenic 53000 rs199473480 11:2797236-2797236 11:2776006-2776006
34 KCNQ1 NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys) SNV Pathogenic 3126 rs120074185 11:2797262-2797262 11:2776032-2776032
35 KCNQ1 NM_181798.1(KCNQ1):c.1283G>A (p.Arg428His) SNV Pathogenic 53003 rs199472800 11:2797263-2797263 11:2776033-2776033
36 KCNQ1 NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) SNV Pathogenic 3138 rs120074189 11:2799233-2799233 11:2778003-2778003
37 KCNQ1 NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) SNV Pathogenic 53018 rs199472815 11:2799254-2799254 11:2778024-2778024
38 KCNQ1 NM_181798.1(KCNQ1):c.96+5G>A SNV Pathogenic 53047 rs397508111 11:2549253-2549253 11:2528023-2528023
39 KCNQ1 NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg) SNV Pathogenic 53052 rs179489 11:2591882-2591882 11:2570652-2570652
40 KCNQ1 NM_181798.1(KCNQ1):c.132C>G (p.Tyr44Ter) SNV Pathogenic 53056 rs139042529 11:2591893-2591893 11:2570663-2570663
41 KCNQ1 NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys) SNV Pathogenic 53058 rs199472696 11:2591900-2591900 11:2570670-2570670
42 KCNQ1 NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) SNV Pathogenic 53083 rs199473456 11:2592624-2592624 11:2571394-2571394
43 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
44 KCNQ1 NM_181798.1(KCNQ1):c.323T>A (p.Ile108Asn) SNV Pathogenic 53088 rs199472710 11:2593263-2593263 11:2572033-2572033
45 KCNQ1 NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) SNV Pathogenic 53090 rs199472712 11:2593283-2593283 11:2572053-2572053
46 KCNQ1 NM_181798.1(KCNQ1):c.346C>T (p.Arg116Cys) SNV Pathogenic 53091 rs199472713 11:2593286-2593286 11:2572056-2572056
47 KCNQ1 NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) SNV Pathogenic 53101 rs199472720 11:2593335-2593335 11:2572105-2572105
48 KCNQ1 NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) SNV Pathogenic 53108 rs199473460 11:2594092-2594092 11:2572862-2572862
49 KCNQ1 NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp) SNV Pathogenic 3145 rs120074194 11:2594101-2594101 11:2572871-2572871
50 KCNQ1 NM_181798.1(KCNQ1):c.434G>A (p.Gly145Asp) SNV Pathogenic 53109 rs199472726 11:2594110-2594110 11:2572880-2572880

Copy number variations for Long Qt Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 48309 11 1 10700000 Gain Long-qt syndrome
2 221890 21 34740857 34806443 Genomic rearrangement KCNE1 Long-qt syndrome
3 221892 21 34658192 34665310 Genomic rearrangement KCNE2 Long-qt syndrome
4 221894 7 147500000 154700000 Genomic rearrangement KCNH2 Long-qt syndrome
5 221896 11 2422796 2826916 Genomic rearrangement KCNQ1 Long-qt syndrome
6 221898 3 38564556 38666167 Genomic rearrangement SCN5A Long-qt syndrome
7 221930 7 147900000 152600000 Loss Long-qt syndrome

Expression for Long Qt Syndrome

Search GEO for disease gene expression data for Long Qt Syndrome.

Pathways for Long Qt Syndrome

Pathways related to Long Qt Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Adrenergic signaling in cardiomyocytes hsa04261
2 Oxytocin signaling pathway hsa04921

Pathways related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 RYR2 KCNQ1 KCNJ5 KCNJ2 CACNA1C
2
Show member pathways
12.42 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2 KCNH2
3
Show member pathways
12.3 SCN5A RYR2 KCNQ1 KCNE1 CACNA1C
4
Show member pathways
12.25 RYR2 KCNJ5 KCNJ2 CACNA1C
5
Show member pathways
12.21 RYR2 KCNQ1 KCNJ2 KCNE2
6 12.12 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
7 12.01 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 CAV3
8
Show member pathways
11.9 KCNQ1 KCNJ5 KCNJ2 KCNH2
9
Show member pathways
11.61 SCN5A KCNQ1 KCNE2 KCNE1 CACNA1C AKAP9
10 11.07 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
11 10.82 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome

Cellular components related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.27 SNTA1 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2
2 cell surface GO:0009986 9.88 SCN5A KCNH2 KCNE2 KCNE1 CAV3
3 Z disc GO:0030018 9.73 SCN5A RYR2 KCNE1 CAV3 CACNA1C ANK2
4 membrane raft GO:0045121 9.71 KCNQ1 KCNE1 CAV3 ANK2
5 sarcolemma GO:0042383 9.63 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
6 intercalated disc GO:0014704 9.62 SCN5A KCNJ2 CAV3 ANK2
7 lateral plasma membrane GO:0016328 9.54 SNTA1 SCN5A KCNQ1
8 dystrophin-associated glycoprotein complex GO:0016010 9.46 SNTA1 CAV3
9 A band GO:0031672 9.43 MYBPC3 ANK2
10 T-tubule GO:0030315 9.43 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
11 voltage-gated potassium channel complex GO:0008076 9.17 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

Biological processes related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.21 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
2 transmembrane transport GO:0055085 10.13 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C ABCB8
3 potassium ion transport GO:0006813 10.04 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
4 ion transmembrane transport GO:0034220 10.02 SCN5A RYR2 KCNJ5 KCNH2
5 potassium ion transmembrane transport GO:0071805 10.02 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
6 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
7 cardiac muscle contraction GO:0060048 9.96 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2
8 regulation of heart rate GO:0002027 9.92 SNTA1 SCN5A RYR2 CAV3 ANK2
9 potassium ion import across plasma membrane GO:1990573 9.89 KCNJ5 KCNJ2 KCNH2 KCNE2
10 regulation of cardiac muscle contraction GO:0055117 9.88 RYR2 RNF207 CAV3 ANK2
11 potassium ion export across plasma membrane GO:0097623 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
12 cellular response to drug GO:0035690 9.87 KCNQ1 KCNH2 KCNE2
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
14 cellular response to cAMP GO:0071320 9.86 KCNQ1 KCNE1 AKAP9
15 cardiac conduction GO:0061337 9.86 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
16 membrane repolarization GO:0086009 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 SCN5A KCNJ2 KCNE2 KCNE1 CACNA1C
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
19 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
20 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
21 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.8 RYR2 CACNA1C ANK2
22 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
23 regulation of membrane repolarization GO:0060306 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
24 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.79 KCNQ1 KCNE2 KCNE1
25 regulation of cardiac muscle cell contraction GO:0086004 9.79 SCN5A KCNJ2 ANK2
26 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.78 SCN5A KCNJ2 CACNA1C
27 atrial cardiac muscle cell action potential GO:0086014 9.77 SCN5A KCNQ1 ANK2
28 positive regulation of heart rate GO:0010460 9.72 RYR2 KCNQ1
29 membrane repolarization during action potential GO:0086011 9.72 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
30 membrane depolarization during action potential GO:0086010 9.71 SCN5A KCNH2
31 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 RYR2 CACNA1C
32 calcium ion transport into cytosol GO:0060402 9.71 RYR2 CACNA1C
33 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
34 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
35 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.7 RYR2 CACNA1C
36 T-tubule organization GO:0033292 9.7 CAV3 ANK2
37 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
38 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.69 CAV3 AKAP9
39 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.69 RYR2 ANK2
40 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 KCNE2 KCNE1
41 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 SCN5A CAV3
42 negative regulation of voltage-gated potassium channel activity GO:1903817 9.68 KCNQ1 KCNE2
43 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.68 ANK2 AKAP9
44 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 SCN5A KCNQ1
45 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNQ1 KCNJ5
46 membrane depolarization during SA node cell action potential GO:0086046 9.67 SCN5A ANK2
47 membrane depolarization during AV node cell action potential GO:0086045 9.66 SCN5A CACNA1C
48 SA node cell action potential GO:0086015 9.66 SCN5A ANK2
49 sarcoplasmic reticulum calcium ion transport GO:0070296 9.65 RYR2 ANK2
50 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.65 SCN5A CACNA1C

Molecular functions related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.88 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.85 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 9.72 SCN5A KCNQ1 KCNH2
5 potassium channel regulator activity GO:0015459 9.71 KCNE2 KCNE1 AKAP9
6 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
7 protein kinase A regulatory subunit binding GO:0034237 9.69 RYR2 KCNQ1 AKAP9
8 delayed rectifier potassium channel activity GO:0005251 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
9 inward rectifier potassium channel activity GO:0005242 9.62 KCNJ5 KCNJ2 KCNH2 KCNE2
10 nitric-oxide synthase binding GO:0050998 9.61 SNTA1 SCN5A CAV3
11 protein kinase A catalytic subunit binding GO:0034236 9.56 RYR2 KCNQ1
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
13 voltage-gated ion channel activity GO:0005244 9.56 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
15 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.52 KCNQ1 KCNJ5
16 ion channel binding GO:0044325 9.32 SNTA1 SCN5A RYR2 RNF207 KCNQ1 KCNE2

Sources for Long Qt Syndrome

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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