LQT
MCID: LNG028
MIFTS: 63

Long Qt Syndrome (LQT)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 11 24 19 75 28 53 5 43 14 36 63 71 33
Romano-Ward Syndrome 11 71
Congenital Long Qt Syndrome 33
Familial Long Qt Syndrome 33
Long Q-T Syndrome 11
Qt Syndrome, Long 38
Lqt 11

Characteristics:


GeneReviews:

24
Penetrance Lqts exhibits reduced penetrance of the ekg changes and symptoms. overall, approximately 25% of individuals with a pathogenic variant have a normal qtc (defined as <440 msec) on baseline ekg. 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 11 DOID:2843
ICD9CM 34 426.82
MeSH 43 D008133
NCIt 49 C34786
SNOMED-CT 68 9651007
ICD11 33 1208831985
UMLS 71 C0023976 C0035828

Summaries for Long Qt Syndrome

PubMed Health : 63 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.

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 Cardiac conduction and Myometrial relaxation and contraction pathways. The drugs Cathine and Methadone have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are muscle and growth/size/body region

Disease Ontology: 11 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).

Wikipedia: 75 Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... 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 382)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 34.2 TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
2 long qt syndrome 1 34.1 TRDN SNTA1 SCN5A RYR2 OXTR MYBPC3
3 long qt syndrome 3 34.1 TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
4 long qt syndrome 5 34.0 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
5 cardiac arrhythmia, ankyrin-b-related 33.9 TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
6 long qt syndrome 6 33.9 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
7 andersen cardiodysrhythmic periodic paralysis 33.9 TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ5
8 timothy syndrome 33.9 TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ2
9 long qt syndrome 9 33.9 TRDN SNTA1 SCN5A RYR2 OXTR KCNQ1
10 long qt syndrome 11 33.9 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 KCNJ2 KCNH2 KCNE2
13 long qt syndrome 10 33.8 SNTA1 SCN5A KCNJ5 KCNJ2 KCNE2 KCNE1
14 long qt syndrome 14 33.7 TRDN SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2
15 long qt syndrome 15 33.6 TRDN SNTA1 KCNJ2 KCNH2 AKAP9
16 jervell and lange-nielsen syndrome 1 33.6 TRDN SNTA1 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1
17 familial long qt syndrome 33.6 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE1
18 syncope 32.7 SCN5A RYR2 KCNQ1 KCNH2
19 cardiac conduction defect 32.6 SCN5A RYR2 MYBPC3 KCNQ1 CACNA1C
20 ventricular tachycardia, catecholaminergic polymorphic, 3 32.5 TRDN RYR2 KCNJ2 ANK2
21 ventricular fibrillation, paroxysmal familial, 1 32.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
22 brugada syndrome 32.4 TRDN SNTA1 SCN5A RYR2 RNF207 MYBPC3
23 cardiac arrest 32.4 TRDN SCN5A RYR2 KCNQ1 KCNH2
24 atrioventricular block 32.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
25 catecholaminergic polymorphic ventricular tachycardia 32.1 TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
26 hypokalemia 32.0 KCNQ1 KCNJ5 KCNH2
27 hypertrophic cardiomyopathy 31.9 TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
28 sudden infant death syndrome 31.8 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2
29 brugada syndrome 1 31.8 SCN5A RYR2 KCNH2
30 dilated cardiomyopathy 31.8 TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
31 short qt syndrome 31.7 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
32 cardiomyopathy, familial hypertrophic, 1 31.7 SCN5A RYR2 OXTR MYBPC3 KCNQ1 KCNH2
33 atrial fibrillation 31.7 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
34 third-degree atrioventricular block 31.7 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
35 left ventricular noncompaction 31.6 TRDN SNTA1 SCN5A RYR2 MYBPC3 KCNQ1
36 sick sinus syndrome 31.6 SCN5A RYR2 KCNE1 CACNA1C
37 heart disease 31.5 TRDN SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
38 arrhythmogenic right ventricular cardiomyopathy 31.5 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 CACNA1C
39 lipoprotein quantitative trait locus 31.5 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
40 progressive familial heart block, type ia 31.4 SCN5A ANK2
41 familial atrial fibrillation 31.4 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5
42 progressive familial heart block 31.3 SCN5A KCNQ1
43 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.2 TRDN RYR2 CACNA1C ANK2
44 right bundle branch block 31.2 SCN5A RYR2 KCNH2 CACNA1C
45 second-degree atrioventricular block 31.1 SCN5A KCNH2
46 familial short qt syndrome 31.1 KCNQ1 KCNJ2 KCNH2
47 congestive heart failure 31.1 SCN5A MYBPC3 KCNQ1 KCNJ2 KCNE2
48 left bundle branch hemiblock 30.8 SCN5A RYR2 MYBPC3
49 brugada syndrome 4 30.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
50 malignant hyperthermia 30.7 TRDN SCN5A RYR2 CAV3 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.97 ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2
2 growth/size/body region MP:0005378 9.86 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3 cardiovascular system MP:0005385 9.36 ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2

Drugs & Therapeutics for Long Qt Syndrome

PubMed Health treatment related to Long Qt Syndrome: 63

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 155)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
2
Methadone Approved Phase 4 76-99-3, 1095-90-5 4095
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
5
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
6
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
7
Methyltestosterone Approved Phase 4 58-18-4 6010
8
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0 21873174 65157
9
Testosterone enanthate Approved Phase 4 315-37-7 9416
10
Testosterone Approved, Investigational Phase 4 58-22-0 5408 6013
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12 Respiratory System Agents Phase 4
13 Antitussive Agents Phase 4
14 Analgesics, Opioid Phase 4
15 Analgesics Phase 4
16 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
17 Narcotics Phase 4
18 Hormones Phase 4
19 Hormone Antagonists Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Progestins Phase 4
22 Androgens Phase 4
23 Testosterone 17 beta-cypionate Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 glucocorticoids Phase 4
26 Anti-Inflammatory Agents Phase 4
27
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 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 186826-86-8, 354812-41-2, 151096-09-2 152946
32
Verapamil Approved Phase 1 152-11-4, 52-53-9 2520
33
Lopinavir Approved Phase 1 192725-17-0 92727
34
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
35
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
36
Chloroquine Approved, Investigational, Vet_approved Phase 1 54-05-7 2719
37
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
38
Mexiletine Approved, Investigational Phase 1 5370-01-4, 31828-71-4 4178
39 Anti-Bacterial Agents Phase 1
40 Anti-Infective Agents Phase 1
41 Antiprotozoal Agents Phase 1
42 Antiparasitic Agents Phase 1
43 Antimalarials Phase 1
44 Norgestimate, ethinyl estradiol drug combination Phase 1
45 Cytochrome P-450 Enzyme Inhibitors Phase 1
46 Cytochrome P-450 CYP3A Inhibitors Phase 1
47 Anesthetics Phase 1
48 Vasodilator Agents Phase 1
49 Amebicides Phase 1
50 Antirheumatic Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Effect of Methadone and Hydromorphone on the QT Interval After Anesthesia and Surgery Unknown status NCT03893734 Phase 4 methadone;Hydromorphone
2 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
3 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
4 Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening Recruiting NCT04675788 Phase 4 Progesterone;Ibutilide;Testosterone;Placebo
5 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
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 ECG Device for Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
8 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
9 Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
10 Efficacy of Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
11 Mutation-specific Therapy for the Long QT Syndrome 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 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
15 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
16 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
17 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
18 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
19 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
20 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
21 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
22 Electromechanical Profiling of Arrhythmogenic Substrates and Triggers in the Long-QT Syndrome Unknown status NCT04074122
23 Hydroxyzine and Risk of Prolongation of QT Interval Unknown status NCT02814981
24 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Unknown status NCT03642405
25 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
26 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
27 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
28 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
29 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
30 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
31 Long QT & Hearing Loss Prospective Study Registry Completed NCT02082431
32 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
33 Fetal and Neonatal Magnetophysiology Completed NCT01903564
34 The Physiological Effects of hERG Blockade on Metabolism Completed NCT03868657 Moxifloxacin;Placebo
35 Physical Activity in Children With Inherited Cardiac Diseases : a Qualitative Completed NCT04650009
36 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
37 Obstructive Sleep Apnea and Cardiac Electrophysiologic Biomarkers of Sudden Cardiac Death Completed NCT03678311
38 Azitromycin Use in COVID-19 Positive Pediatric Patients; Effect on Ventricle Repolarization Completed NCT04699097 Azithromycin
39 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
40 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
41 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol
42 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Completed NCT04124237
43 Determining the Effects of Two Different Anesthesia Induction Techniques on QT Distance in Cardiac Surgery Patients With Two Different QT Measurement Techniques Completed NCT04706104
44 The Long QT Syndrome in Pregnancy Completed NCT00488254
45 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
46 Modulation of QT Interval by Rapid Atrial Pacing in Patients With Dual Chamber Pacemakers Completed NCT00883610
47 National Long QT Syndrome Registry: Canadian Genetic Heart Rhythm Network |Research Data Registry and Bio Bank Completed NCT02425189
48 Epidemiology of Long QTand Asian Sudden Death in Sleep Completed NCT00005367
49 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
50 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Completed NCT03544918

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 28 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A TRDN

Anatomical Context for Long Qt Syndrome

Organs/tissues related to Long Qt Syndrome:

MalaCards : Heart, Brain, Lung, Cardiac Myocytes, Skeletal Muscle, Spinal Cord, Whole Blood

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 5708)
# Title Authors PMID Year
1
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 62 24 5
26132555 2015
2
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 62 24 5
23631430 2013
3
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 62 24 5
21185501 2011
4
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. 62 24 5
20541041 2010
5
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 62 24 5
19716085 2009
6
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. 62 24 5
16534005 2006
7
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 24 5
15840476 2005
8
Compound mutations: a common cause of severe long-QT syndrome. 62 24 5
15051636 2004
9
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 62 24 5
12566525 2003
10
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. 53 62 5
19825999 2009
11
Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction. 53 62 5
19959132 2009
12
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. 53 62 5
20368164 2009
13
Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation. 53 62 5
19057127 2008
14
SCN5A channelopathies--an update on mutations and mechanisms. 53 62 5
19027780 2008
15
Clinical and electrophysiological features of Japanese pediatric long QT syndrome patients with KCNQ1 mutations. 53 62 5
19261104 2008
16
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. 53 62 5
18808722 2008
17
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. 53 62 5
18774102 2008
18
The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. 53 62 5
18386051 2008
19
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. 53 62 5
18400097 2008
20
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. 53 62 5
18308161 2008
21
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 53 62 5
18752142 2008
22
[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro]. 53 62 5
17445409 2007
23
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. 53 62 5
16987820 2006
24
[DNA-based diagnostics of long QT syndrome]. 53 62 5
16244680 2005
25
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 53 62 5
15935335 2005
26
Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. 53 62 5
15746441 2005
27
Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. 53 62 5
15500450 2005
28
Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. 53 62 5
15572053 2004
29
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 53 62 5
14998624 2004
30
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 53 62 5
14760488 2004
31
A patient with LQTS in whom verapamil administration and permanent pacemaker implantation were useful for preventing torsade de pointes. 53 62 5
14720170 2004
32
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 53 62 5
14678125 2003
33
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. 53 62 5
12808265 2003
34
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 53 62 5
12566567 2003
35
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 53 62 5
12522251 2003
36
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 53 62 5
12442276 2002
37
[Congenital long QT syndrome in newborns]. 53 62 5
12205790 2002
38
The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. 53 62 5
11741928 2002
39
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. 53 62 5
11162126 2001
40
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. 53 62 5
11170080 2001
41
Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. 53 62 5
10841244 2000
42
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 53 62 5
10862094 2000
43
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. 53 62 5
10737999 2000
44
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 53 62 5
10483966 1999
45
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 53 62 5
10400998 1999
46
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 53 62 5
10187793 1999
47
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. 53 62 5
9799083 1998
48
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 53 62 5
9702906 1998
49
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 53 62 5
9693036 1998
50
Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome. 53 62 5
9654228 1998

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

5 (show top 50) (show all 7398)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A5 NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp) SNV Association
207859 rs779760381 GRCh37: 1:9099936-9099936
GRCh38: 1:9039877-9039877
2 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Benign; Risk Factor
13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
3 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Likely Benign; Risk Factor
67509 rs36210422 GRCh37: 7:150655537-150655537
GRCh38: 7:150958449-150958449
4 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) SNV Pathogenic
17632 rs79891110 GRCh37: 12:2614110-2614110
GRCh38: 12:2504944-2504944
5 KCNH2 NM_000238.4(KCNH2):c.1128G>A (p.Gln376_Val377=) SNV Pathogenic
200323 rs770047651 GRCh37: 7:150654379-150654379
GRCh38: 7:150957291-150957291
6 KCNH2 NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) SNV Pathogenic
220208 rs773724817 GRCh37: 7:150645949-150645949
GRCh38: 7:150948861-150948861
7 KCNH2 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) DUP Pathogenic
200672 rs794728455 GRCh37: 7:150644883-150644884
GRCh38: 7:150947795-150947796
8 KCNH2 NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) SNV Pathogenic
67281 rs199473522 GRCh37: 7:150648671-150648671
GRCh38: 7:150951583-150951583
9 KCNH2 NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) DEL Pathogenic
219924 rs864622309 GRCh37: 7:150644474-150644474
GRCh38: 7:150947386-150947386
10 KCNQ1 NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) SNV Pathogenic
3121 rs12720459 GRCh37: 11:2604765-2604765
GRCh38: 11:2583535-2583535
11 KCNQ1 NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) SNV Pathogenic
3118 rs120074179 GRCh37: 11:2593319-2593319
GRCh38: 11:2572089-2572089
12 KCNQ1 NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) SNV Pathogenic
53151 rs199472755 GRCh37: 11:2604708-2604708
GRCh38: 11:2583478-2583478
13 KCNQ1 NM_000218.3(KCNQ1):c.585del (p.Lys196fs) DEL Pathogenic
53076 rs397508120 GRCh37: 11:2591964-2591964
GRCh38: 11:2570734-2570734
14 KCNQ1 NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) SNV Pathogenic
53063 rs199473394 GRCh37: 11:2591915-2591915
GRCh38: 11:2570685-2570685
15 KCNQ1 NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) SNV Pathogenic
53061 rs120074177 GRCh37: 11:2591912-2591912
GRCh38: 11:2570682-2570682
16 SCN5A NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic
67651 rs72549410 GRCh37: 3:38647549-38647549
GRCh38: 3:38606058-38606058
17 KCNH2 NM_000238.4(KCNH2):c.1945+6T>C SNV Pathogenic
200400 rs794728380 GRCh37: 7:150648530-150648530
GRCh38: 7:150951442-150951442
18 KCNH2 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) SNV Pathogenic
200513 rs794728401 GRCh37: 7:150644566-150644566
GRCh38: 7:150947478-150947478
19 KCNH2 NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) SNV Pathogenic
14420 rs121912504 GRCh37: 7:150648799-150648799
GRCh38: 7:150951711-150951711
20 KCNH2 NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) DUP Pathogenic
200705 rs794728470 GRCh37: 7:150644455-150644456
GRCh38: 7:150947367-150947368
21 CACNA1C NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) SNV Pathogenic
190642 rs786205748 GRCh37: 12:2675631-2675631
GRCh38: 12:2566465-2566465
22 KCNH2 NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) DUP Pathogenic
200612 rs794728425 GRCh37: 7:150655308-150655309
GRCh38: 7:150958220-150958221
23 KCNH2 NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) SNV Pathogenic
67279 rs199472936 GRCh37: 7:150648680-150648680
GRCh38: 7:150951592-150951592
24 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) DEL Pathogenic
53072 rs397508118 GRCh37: 11:2591950-2591954
GRCh38: 11:2570720-2570724
25 CAV3, OXTR NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) SNV Pathogenic
8285 rs28936686 GRCh37: 3:8787374-8787374
GRCh38: 3:8745688-8745688
26 KCNH2 NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) SNV Pathogenic
67402 rs199473538 GRCh37: 7:150646069-150646069
GRCh38: 7:150948981-150948981
27 KCNQ1 NC_000011.9:g.(?_2604645)_(2604795_?)del DEL Pathogenic
1454680 GRCh37: 11:2604645-2604795
GRCh38:
28 KCNQ1 NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs) DUP Pathogenic
1454915 GRCh37: 11:2608818-2608819
GRCh38: 11:2587588-2587589
29 KCNH2 NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter) SNV Pathogenic
1455507 GRCh37: 7:150646100-150646100
GRCh38: 7:150949012-150949012
30 KCNQ1 NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs) DUP Pathogenic
1455898 GRCh37: 11:2593302-2593303
GRCh38: 11:2572072-2572073
31 KCNH2 NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs) DUP Pathogenic
1456173 GRCh37: 7:150671895-150671896
GRCh38: 7:150974807-150974808
32 KCNQ1 NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs) DEL Pathogenic
1445000 GRCh37: 11:2608878-2608890
GRCh38: 11:2587648-2587660
33 KCNH2 NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs) DUP Pathogenic
1452601 GRCh37: 7:150648032-150648033
GRCh38: 7:150950944-150950945
34 KCNQ1 NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs) DUP Pathogenic
1451451 GRCh37: 11:2594205-2594206
GRCh38: 11:2572975-2572976
35 KCNH2 NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs) DUP Pathogenic
1452025 GRCh37: 7:150644480-150644481
GRCh38: 7:150947392-150947393
36 KCNQ1 NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs) DUP Pathogenic
1452627 GRCh37: 11:2593329-2593330
GRCh38: 11:2572099-2572100
37 KCNH2 NM_000238.4(KCNH2):c.809_821del (p.Thr270fs) DEL Pathogenic
1452777 GRCh37: 7:150655242-150655254
GRCh38: 7:150958154-150958166
38 KCNQ1 NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter) SNV Pathogenic
842276 rs1848346228 GRCh37: 11:2593337-2593337
GRCh38: 11:2572107-2572107
39 KCNH2 NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs) DEL Pathogenic
1457690 GRCh37: 7:150649766-150649772
GRCh38: 7:150952678-150952684
40 KCNQ1-AS1, KCNQ1 NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs) DUP Pathogenic
1306529 GRCh37: 11:2869072-2869073
GRCh38: 11:2847842-2847843
41 KCNQ1 and overlap with 1 gene(s) NC_000011.9:g.(?_2591848)_(2683321_?)del DEL Pathogenic
1459721 GRCh37: 11:2591848-2683321
GRCh38:
42 KCNH2 NM_000238.4(KCNH2):c.2684del (p.Thr895fs) DEL Pathogenic
1455493 GRCh37: 7:150645540-150645540
GRCh38: 7:150948452-150948452
43 KCNH2 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) SNV Pathogenic
200518 rs794728403 GRCh37: 7:150644528-150644528
GRCh38: 7:150947440-150947440
44 KCNH2 NM_000238.4(KCNH2):c.464del (p.Leu155fs) DEL Pathogenic
1453664 GRCh37: 7:150656668-150656668
GRCh38: 7:150959580-150959580
45 KCNJ5 NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) SNV Pathogenic
135679 rs587777437 GRCh37: 11:128781620-128781620
GRCh38: 11:128911725-128911725
46 KCNQ1 NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) MICROSAT Pathogenic
52930 rs397508068 GRCh37: 11:2604757-2604759
GRCh38: 11:2583527-2583529
47 KCNQ1 NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) SNV Pathogenic
3120 rs12720459 GRCh37: 11:2604765-2604765
GRCh38: 11:2583535-2583535
48 KCNQ1 NM_000218.3(KCNQ1):c.1032G>A (p.Ala344_Gly345=) SNV Pathogenic
3135 rs1800171 GRCh37: 11:2604775-2604775
GRCh38: 11:2583545-2583545
49 KCNQ1 NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) SNV Pathogenic
52946 rs397508072 GRCh37: 11:2606475-2606475
GRCh38: 11:2585245-2585245
50 KCNQ1 NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) SNV Pathogenic
52950 rs397508075 GRCh37: 11:2606484-2606484
GRCh38: 11:2585254-2585254

Copy number variations for Long Qt Syndrome from CNVD:

6
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 TRDN SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
2
Show member pathways
12.19 RYR2 OXTR KCNJ5 CACNA1C
3 12.12 AKAP9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
4 11.94 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 CAV3
5
Show member pathways
11.87 KCNQ1 KCNJ5 KCNJ2 KCNH2
6 11.06 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
7 10.61 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 10.03 ANK2 CACNA1C CAV3 KCNE1 RYR2 SCN5A
2 postsynaptic membrane GO:0045211 9.93 SNTA1 KCNJ2 CACNA1C ANK2
3 intercalated disc GO:0014704 9.92 SCN5A KCNJ2 CAV3 ANK2
4 sarcolemma GO:0042383 9.9 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
5 lateral plasma membrane GO:0016328 9.83 SNTA1 SCN5A KCNQ1
6 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 TRDN RYR2
7 T-tubule GO:0030315 9.61 SCN5A KCNJ2 CAV3 CACNA1C ANK2
8 potassium channel complex GO:0034705 9.58 KCNQ1 AKAP9
9 voltage-gated potassium channel complex GO:0008076 9.47 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.32 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
2 potassium ion import across plasma membrane GO:1990573 10.24 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
3 cardiac muscle contraction GO:0060048 10.22 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2
4 cellular response to xenobiotic stimulus GO:0071466 10.18 KCNQ1 KCNH2 KCNE2
5 regulation of cardiac muscle contraction GO:0055117 10.18 RYR2 RNF207 CAV3 ANK2
6 potassium ion export across plasma membrane GO:0097623 10.17 KCNE1 KCNE2 KCNH2 KCNQ1
7 regulation of heart rate GO:0002027 10.17 SNTA1 SCN5A RYR2 KCNQ1 CAV3 ANK2
8 cellular response to cAMP GO:0071320 10.16 AKAP9 KCNE1 KCNQ1
9 positive regulation of potassium ion transmembrane transport GO:1901381 10.16 KCNE1 KCNH2 KCNJ2 KCNQ1
10 cardiac muscle cell action potential involved in contraction GO:0086002 10.16 SCN5A KCNJ2 KCNE2 KCNE1 CACNA1C
11 regulation of heart rate by cardiac conduction GO:0086091 10.16 AKAP9 ANK2 CACNA1C KCNE1 KCNE2 KCNH2
12 potassium ion transport GO:0006813 10.15 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
13 monoatomic ion transport GO:0006811 10.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.11 RYR2 CACNA1C ANK2
15 regulation of potassium ion transmembrane transport GO:1901379 10.1 KCNH2 KCNE2 KCNE1
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.1 SCN5A KCNJ2 CACNA1C
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.1 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
18 regulation of cardiac muscle cell contraction GO:0086004 10.09 SCN5A KCNJ2 ANK2
19 atrial cardiac muscle cell action potential GO:0086014 10.08 SCN5A KCNQ1 ANK2
20 positive regulation of potassium ion transmembrane transporter activity GO:1901018 10.08 RNF207 ANK2 AKAP9
21 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.08 KCNQ1 KCNJ2 KCNH2 KCNE1
22 regulation of monoatomic ion transmembrane transport GO:0034765 10.07 SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
23 membrane repolarization GO:0086009 10.05 KCNQ1 KCNH2 KCNE2 KCNE1
24 monoatomic ion transmembrane transport GO:0034220 10.04 SCN5A KCNQ1 KCNJ5 KCNH2 CACNA1C
25 regulation of membrane repolarization GO:0060306 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
26 regulation of ventricular cardiac muscle cell action potential GO:0098911 10.01 RYR2 CACNA1C
27 cellular response to epinephrine stimulus GO:0071872 10.01 RYR2 KCNQ1
28 cardiac muscle hypertrophy GO:0003300 10.01 RYR2 CAV3
29 negative regulation of delayed rectifier potassium channel activity GO:1902260 10.01 KCNE1 KCNE2 KCNQ1
30 negative regulation of potassium ion transmembrane transport GO:1901380 10 KCNH2 CAV3
31 regulation of sodium ion transmembrane transport GO:1902305 10 SCN5A SNTA1
32 T-tubule organization GO:0033292 10 CAV3 ANK2
33 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.99 CAV3 AKAP9
34 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.99 TRDN RYR2
35 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.99 RYR2 ANK2
36 regulation of delayed rectifier potassium channel activity GO:1902259 9.98 KCNE2 KCNE1
37 regulation of SA node cell action potential GO:0098907 9.98 RYR2 ANK2
38 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.98 SCN5A CAV3
39 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.97 KCNQ1 SCN5A
40 membrane depolarization during AV node cell action potential GO:0086045 9.97 SCN5A CACNA1C
41 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.97 KCNQ1 KCNJ5
42 membrane depolarization during SA node cell action potential GO:0086046 9.96 SCN5A ANK2
43 SA node cell action potential GO:0086015 9.96 SCN5A ANK2
44 sarcoplasmic reticulum calcium ion transport GO:0070296 9.96 RYR2 ANK2
45 membrane repolarization during action potential GO:0086011 9.96 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.95 CACNA1C SCN5A
47 regulation of atrial cardiac muscle cell action potential GO:0098910 9.95 RYR2 ANK2
48 regulation of calcium ion transmembrane transporter activity GO:1901019 9.93 ANK2 CAV3
49 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.91 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
50 cardiac conduction GO:0061337 9.88 CACNA1C KCNQ1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.21 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 scaffold protein binding GO:0097110 10.02 SCN5A KCNQ1 KCNH2
3 voltage-gated potassium channel activity GO:0005249 10.02 KCNQ1 KCNH2 KCNE2 KCNE1
4 potassium channel regulator activity GO:0015459 10.01 KCNE2 KCNE1 AKAP9
5 protein kinase A regulatory subunit binding GO:0034237 9.97 AKAP9 KCNQ1 RYR2
6 delayed rectifier potassium channel activity GO:0005251 9.97 KCNE1 KCNE2 KCNH2 KCNQ1
7 inward rectifier potassium channel activity GO:0005242 9.92 KCNJ5 KCNJ2 KCNH2 KCNE2
8 nitric-oxide synthase binding GO:0050998 9.91 SNTA1 SCN5A CAV3
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.85 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.83 KCNQ1 KCNJ5
12 monoatomic ion channel activity GO:0005216 9.8 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
13 potassium channel activity GO:0005267 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
14 transmembrane transporter binding GO:0044325 9.64 TRDN SNTA1 SCN5A RYR2 RNF207 KCNQ1
15 voltage-gated monoatomic ion channel activity GO:0005244 9.61 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5

Sources for Long Qt Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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