LQT
MCID: LNG028
MIFTS: 63

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 73 25 20 36 29 54 6 44 15 37 62 70
Romano-Ward Syndrome 12 70
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 70 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 skeletal muscle, and related phenotype is 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 : 73 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 319)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 34.2 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
2 long qt syndrome 1 34.1 SSUH2 SNTA1 SCN5A SCN4B RYR2 RNF207
3 long qt syndrome 3 34.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
4 long qt syndrome 5 34.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
5 long qt syndrome 6 33.9 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
6 long qt syndrome 9 33.9 SSUH2 SNTA1 SCN5A SCN4B RYR2 KCNQ1
7 andersen cardiodysrhythmic periodic paralysis 33.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
8 cardiac arrhythmia, ankyrin-b-related 33.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
9 long qt syndrome 11 33.8 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
10 long qt syndrome 12 33.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
11 long qt syndrome 13 33.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
12 timothy syndrome 33.8 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
13 long qt syndrome 10 33.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
14 long qt syndrome 14 33.7 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
15 long qt syndrome 15 33.7 KCNJ2 KCNE1 CALM2 CACNA1C
16 familial long qt syndrome 33.6 SSUH2 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1
17 jervell and lange-nielsen syndrome 1 33.6 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
18 syncope 32.7 SCN5A RYR2 KCNQ1 KCNH2
19 cardiac conduction defect 32.6 SCN5A RYR2 MYBPC3 KCNQ1 CACNA1C
20 ventricular fibrillation, paroxysmal familial, 1 32.4 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
21 cardiac arrest 32.4 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 ANK2
22 ventricular tachycardia, catecholaminergic polymorphic, 3 32.4 RYR2 KCNJ2
23 brugada syndrome 32.3 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1-AS1
24 atrioventricular block 32.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
25 cardiac arrhythmia 32.2 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
26 catecholaminergic polymorphic ventricular tachycardia 32.1 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
27 sudden infant death syndrome 32.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
28 brugada syndrome 1 31.9 SCN5A RYR2 MYBPC3 KCNH2 AKAP9
29 hypertrophic cardiomyopathy 31.9 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
30 hypokalemia 31.8 KCNQ1 KCNJ5 KCNH2
31 dilated cardiomyopathy 31.7 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
32 sick sinus syndrome 31.7 SNTA1 SCN5A CACNA1C ANK2
33 short qt syndrome 31.7 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2
34 atrial fibrillation 31.7 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
35 sinoatrial node disease 31.6 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CACNA1C
36 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.6 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
37 arrhythmogenic right ventricular cardiomyopathy 31.6 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
38 familial short qt syndrome 31.4 KCNQ1 KCNJ2 KCNH2
39 left ventricular noncompaction 31.4 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
40 heart disease 31.4 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
41 chromosome 2q35 duplication syndrome 31.3 KCNQ1 KCNJ2 KCNH2 CACNA1C
42 familial atrial fibrillation 31.3 SNTA1 SCN5A SCN4B RYR2 KCNQ1OT1 KCNQ1-AS1
43 progressive familial heart block, type ia 31.3 SCN5A ANK2
44 right bundle branch block 31.2 SCN5A KCNH2 CACNA1C
45 second-degree atrioventricular block 31.1 SCN5A CALM2
46 congestive heart failure 31.0 SCN5A RYR2 KCNQ1 CACNA1C
47 lipoprotein quantitative trait locus 31.0 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
48 cardiomyopathy, familial hypertrophic, 1 31.0 SCN5A RYR2 MYBPC3 KCNH2 CAV3 CACNA1C
49 atrial fibrillation, familial, 3 30.9 KCNQ1OT1 KCNQ1-AS1 KCNQ1
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 muscle MP:0005369 9.28 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 MYBPC3

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 154)
# 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
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
5
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
6
Testosterone Approved, Investigational Phase 4 58-22-0 6013
7
Methyltestosterone Approved Phase 4 58-18-4 6010
8
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
9
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
10
Testosterone enanthate Approved Phase 4 315-37-7 9416
11
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
12 Respiratory System Agents Phase 4
13 Anesthetics Phase 4
14 Analgesics Phase 4
15 glucocorticoids Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Anti-Inflammatory Agents Phase 4
18 Narcotics Phase 4
19 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
20 Analgesics, Opioid Phase 4
21 Antitussive Agents Phase 4
22 Hormone Antagonists Phase 4
23 Hormones Phase 4
24 Testosterone 17 beta-cypionate Phase 4
25 Androgens Phase 4
26 Progestins Phase 4
27 Anti-Arrhythmia Agents Phase 4
28
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
29
Ivacaftor Approved Phase 2 873054-44-5 16220172
30 Diuretics, Potassium Sparing Phase 2
31 Sodium Channel Blockers Phase 2
32
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
33
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
34
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
35
Mexiletine Approved, Investigational Phase 1 31828-71-4 4178
36
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
37
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
38
Verapamil Approved Phase 1 52-53-9 2520
39
Lopinavir Approved Phase 1 192725-17-0 92727
40
chloroquine Approved, Investigational, Vet_approved Phase 1 54-05-7 2719
41 Calcium, Dietary Phase 1
42 Potassium Channel Blockers Phase 1
43 Anti-Infective Agents Phase 1
44 Norgestimate, ethinyl estradiol drug combination Phase 1
45 Anti-Bacterial Agents Phase 1
46 Antihypertensive Agents Phase 1
47 Vasodilator Agents Phase 1
48 Anesthetics, Local Phase 1
49 calcium channel blockers 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 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 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, 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
15 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
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 Hepatic Function Completed NCT02412098 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 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
20 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
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 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
23 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
24 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
25 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
26 Hydroxyzine and Risk of Prolongation of QT Interval Unknown status NCT02814981
27 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
28 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
29 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Completed NCT03544918
30 The Long QT Syndrome in Pregnancy Completed NCT00488254
31 Obstructive Sleep Apnea and Cardiac Electrophysiologic Biomarkers of Sudden Cardiac Death Completed NCT03678311
32 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
33 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
34 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
35 National Long QT Syndrome Registry: Canadian Genetic Heart Rhythm Network |Research Data Registry and Bio Bank Completed NCT02425189
36 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
37 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
38 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Completed NCT03182777
39 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Completed NCT00292032
40 Linkage Study of Long QT Syndrome In An Amish Kindred Completed NCT00005250
41 Azitromycin Use in COVID-19 Positive Pediatric Patients; Effect on Ventricle Repolarization Completed NCT04699097 Azithromycin
42 Fetal and Neonatal Magnetophysiology Completed NCT01903564
43 Epidemiology of Long QTand Asian Sudden Death in Sleep Completed NCT00005367
44 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
45 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol
46 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Completed NCT04124237
47 Modulation of QT Interval by Rapid Atrial Pacing in Patients With Dual Chamber Pacemakers Completed NCT00883610
48 Does Azithromycin Cause QT Prolongation in Hospitalized Patients With Severe Community Acquired Pneumonia? Completed NCT01553734
49 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
50 Long QT & Hearing Loss Prospective Study Registry Completed NCT02082431

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 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

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

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 5273)
# Title Authors PMID Year
1
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 61 25 6
23631430 2013
2
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 61 25 6
21185501 2011
3
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 61 25 6
19716085 2009
4
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 25 6 61
15840476 2005
5
Compound mutations: a common cause of severe long-QT syndrome. 61 6 25
15051636 2004
6
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 25 61 6
12566525 2003
7
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. 6 54 61
19825999 2009
8
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. 54 61 6
19959132 2009
9
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. 54 6 61
20368164 2009
10
Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. 6 54 61
19668779 2009
11
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. 54 61 6
19057127 2008
12
SCN5A channelopathies--an update on mutations and mechanisms. 54 61 6
19027780 2008
13
Clinical and electrophysiological features of Japanese pediatric long QT syndrome patients with KCNQ1 mutations. 6 54 61
19261104 2008
14
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. 6 61 54
18808722 2008
15
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. 54 61 6
18774102 2008
16
The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. 6 54 61
18386051 2008
17
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. 6 54 61
18400097 2008
18
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. 61 6 54
18308161 2008
19
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 6 61 54
18752142 2008
20
[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro]. 61 6 54
17445409 2007
21
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. 54 61 6
17224687 2007
22
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. 54 6 61
16987820 2006
23
[DNA-based diagnostics of long QT syndrome]. 61 6 54
16244680 2005
24
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 6 54 61
15935335 2005
25
Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. 54 6 61
15746441 2005
26
Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. 54 61 6
15500450 2005
27
Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome. 54 61 6
15572053 2004
28
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant. 54 61 6
15194462 2004
29
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 54 6 61
14998624 2004
30
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 6 54 61
14760488 2004
31
A patient with LQTS in whom verapamil administration and permanent pacemaker implantation were useful for preventing torsade de pointes. 54 6 61
14720170 2004
32
A new oral therapy for long QT syndrome: long-term oral potassium improves repolarization in patients with HERG mutations. 61 54 6
14642687 2003
33
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 61 6 54
14678125 2003
34
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 6 61 54
14510661 2003
35
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. 54 61 6
12808265 2003
36
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. 61 54 6
12621127 2003
37
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 6 61 54
12566567 2003
38
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 61 54 6
12522251 2003
39
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 61 54 6
12442276 2002
40
The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. 54 61 6
11741928 2002
41
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. 61 54 6
11162126 2001
42
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG. 61 6 54
11170080 2001
43
Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns. 61 54 6
10841244 2000
44
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. 54 61 6
10862094 2000
45
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 6 54 61
10483966 1999
46
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 6 61 54
10400998 1999
47
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 61 6 54
10187793 1999
48
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. 54 61 6
9799083 1998
49
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. 54 61 6
9702906 1998
50
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 6 61 54
9693036 1998

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 4149)
# 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 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
3 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Benign, risk factor 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
4 KCNQ1 NM_181798.1(KCNQ1):c.170dup (p.Tyr57Ter) Duplication Pathogenic 200870 rs794728547 GRCh37: 11:2591930-2591931
GRCh38: 11:2570700-2570701
5 SCN5A NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) SNV Pathogenic 67844 rs199473225 GRCh37: 3:38601888-38601888
GRCh38: 3:38560397-38560397
6 KCNH2 NM_172056.2(KCNH2):c.1193G>A (p.Trp398Ter) SNV Pathogenic 200327 rs794728366 GRCh37: 7:150649877-150649877
GRCh38: 7:150952789-150952789
7 KCNH2 NM_172056.2(KCNH2):c.164C>A (p.Ser55Ter) SNV Pathogenic 418597 rs199472844 GRCh37: 7:150671942-150671942
GRCh38: 7:150974854-150974854
8 KCNH2 NM_000238.3(KCNH2):c.3251dup (p.Pro1086fs) Duplication Pathogenic 200711 rs794728473 GRCh37: 7:150644043-150644044
GRCh38: 7:150946955-150946956
9 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 GRCh37: 11:2797214-2797214
GRCh38: 11:2775984-2775984
10 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
11 KCNQ1 NM_181798.1(KCNQ1):c.96+1G>A SNV Pathogenic 200874 rs762814879 GRCh37: 11:2549249-2549249
GRCh38: 11:2528019-2528019
12 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) SNV Pathogenic 8283 rs116840778 GRCh37: 3:8775642-8775642
GRCh38: 3:8733956-8733956
13 KCNH2 NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) SNV Pathogenic 67248 rs9333649 GRCh37: 7:150648767-150648767
GRCh38: 7:150951679-150951679
14 MYBPC3 NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) SNV Pathogenic 42744 rs397516042 GRCh37: 11:47353626-47353626
GRCh38: 11:47332075-47332075
15 KCNJ5 NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) SNV Pathogenic 135679 rs587777437 GRCh37: 11:128781620-128781620
GRCh38: 11:128911725-128911725
16 KCNQ1 NM_181798.1(KCNQ1):c.415del (p.Leu139fs) Deletion Pathogenic 53107 rs397508125 GRCh37: 11:2594089-2594089
GRCh38: 11:2572859-2572859
17 KCNH2 NM_000238.3(KCNH2):c.2892dup (p.Gly965fs) Duplication Pathogenic 200686 rs794728462 GRCh37: 7:150644766-150644767
GRCh38: 7:150947678-150947679
18 KCNH2 NM_172056.2(KCNH2):c.1096C>T (p.Arg366Ter) SNV Pathogenic 200321 rs794728364 GRCh37: 7:150654411-150654411
GRCh38: 7:150957323-150957323
19 KCNQ1 NM_181798.1(KCNQ1):c.481_499del (p.Val161fs) Deletion Pathogenic 53119 rs397508129 GRCh37: 11:2594153-2594171
GRCh38: 11:2572923-2572941
20 KCNH2 NM_000238.3(KCNH2):c.3099_3112del (p.Pro1034fs) Deletion Pathogenic 420585 rs1554424044 GRCh37: 7:150644456-150644469
GRCh38: 7:150947368-150947381
21 KCNQ1 NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs) Deletion Pathogenic 817323 rs397508117 GRCh37: 11:2591943-2591944
GRCh38: 11:2570713-2570714
22 KCNQ1 NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) Deletion Pathogenic 53045 rs397508110 GRCh37: 11:2549222-2549223
GRCh38: 11:2527992-2527993
23 KCNH2 NM_172056.2(KCNH2):c.81dup (p.Lys28Ter) Duplication Pathogenic 200715 rs794728475 GRCh37: 7:150672024-150672025
GRCh38: 7:150974936-150974937
24 KCNH2 NM_000238.3(KCNH2):c.2777del (p.Pro926fs) Deletion Pathogenic 200674 rs794728456 GRCh37: 7:150644882-150644882
GRCh38: 7:150947794-150947794
25 KCNQ1 NM_181798.1(KCNQ1):c.436C>T (p.Leu146Phe) SNV Pathogenic 3119 rs120074180 GRCh37: 11:2594112-2594112
GRCh38: 11:2572882-2572882
26 KCNQ1 NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) SNV Pathogenic 53009 rs199472807 GRCh37: 11:2798232-2798232
GRCh38: 11:2777002-2777002
27 KCNH2 NM_172056.2(KCNH2):c.211G>C (p.Gly71Arg) SNV Pathogenic 67366 rs199473420 GRCh37: 7:150671895-150671895
GRCh38: 7:150974807-150974807
28 KCNH2 NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) SNV Pathogenic 14431 rs121912509 GRCh37: 7:150644565-150644565
GRCh38: 7:150947477-150947477
29 KCNQ1 NM_000218.2(KCNQ1):c.825_827CTC[1] (p.Ser277del) Microsatellite Pathogenic 53114 rs397508127 GRCh37: 11:2594120-2594122
GRCh38: 11:2572890-2572892
30 KCNQ1 NM_181798.1(KCNQ1):c.820dup (p.Arg274fs) Duplication Pathogenic 52972 rs397508082 GRCh37: 11:2608866-2608867
GRCh38: 11:2587636-2587637
31 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) Deletion Pathogenic 53050 rs397508112 GRCh37: 11:2591868-2591868
GRCh38: 11:2570638-2570638
32 KCNH2 NM_172056.2(KCNH2):c.565_568del (p.Gly189fs) Deletion Pathogenic 200602 rs794728420 GRCh37: 7:150655495-150655498
GRCh38: 7:150958407-150958410
33 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.1420C>T (p.Gln474Ter) SNV Pathogenic 200861 rs794728540 GRCh37: 11:2869003-2869003
GRCh38: 11:2847773-2847773
34 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) SNV Pathogenic 52996 rs397508097 GRCh37: 11:2790147-2790147
GRCh38: 11:2768917-2768917
35 KCNQ1 NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) SNV Pathogenic 53083 rs199473456 GRCh37: 11:2592624-2592624
GRCh38: 11:2571394-2571394
36 KCNQ1 NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) SNV Pathogenic 53100 rs199472719 GRCh37: 11:2593334-2593334
GRCh38: 11:2572104-2572104
37 KCNQ1 NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg) SNV Pathogenic 52940 rs199473471 GRCh37: 11:2606442-2606442
GRCh38: 11:2585212-2585212
38 KCNQ1 NM_181798.1(KCNQ1):c.759G>T (p.Arg253Ser) SNV Pathogenic 52964 rs199472771 GRCh37: 11:2608811-2608811
GRCh38: 11:2587581-2587581
39 KCNQ1 NM_181798.1(KCNQ1):c.132C>G (p.Tyr44Ter) SNV Pathogenic 53056 rs139042529 GRCh37: 11:2591893-2591893
GRCh38: 11:2570663-2570663
40 KCNQ1 NM_181798.1(KCNQ1):c.323T>A (p.Ile108Asn) SNV Pathogenic 53088 rs199472710 GRCh37: 11:2593263-2593263
GRCh38: 11:2572033-2572033
41 KCNH2 NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) Duplication Pathogenic 216047 rs863224478 GRCh37: 7:150655561-150655562
GRCh38: 7:150958473-150958474
42 KCNH2 NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) SNV Pathogenic 200323 rs770047651 GRCh37: 7:150654379-150654379
GRCh38: 7:150957291-150957291
43 KCNH2 NM_000238.3(KCNH2):c.3060del (p.Ser1021fs) Deletion Pathogenic 219597 rs864622174 GRCh37: 7:150644508-150644508
GRCh38: 7:150947420-150947420
44 KCNH2 NM_172056.2(KCNH2):c.1969G>A (p.Gly657Ser) SNV Pathogenic 67348 rs199472978 GRCh37: 7:150648185-150648185
GRCh38: 7:150951097-150951097
45 KCNQ1 NM_000218.2(KCNQ1):c.1A>T (p.Met1Leu) SNV Pathogenic 220309 rs199473441 GRCh37: 11:2466329-2466329
GRCh38: 11:2445099-2445099
46 KCNH2 NM_172056.2(KCNH2):c.1479C>A (p.Tyr493Ter) SNV Pathogenic 237291 rs878853771 GRCh37: 7:150649591-150649591
GRCh38: 7:150952503-150952503
47 KCNQ1 NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) SNV Pathogenic 67094 rs199472705 GRCh37: 11:2592575-2592575
GRCh38: 11:2571345-2571345
48 KCNH2 NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) SNV Pathogenic 67279 rs199472936 GRCh37: 7:150648680-150648680
GRCh38: 7:150951592-150951592
49 KCNQ1 NC_000011.10:g.(?_2570628)_(2572986_?)del Deletion Pathogenic 417343 GRCh37: 11:2591858-2594216
GRCh38: 11:2570628-2572986
50 KCNQ1 NC_000011.10:g.(?_2583435)_(2583545_?)del Deletion Pathogenic 417340 GRCh37: 11:2604665-2604775
GRCh38: 11:2583435-2583545

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 KCNQ1 KCNJ5 KCNJ2 KCNH2 CALM2 AKAP9
2
Show member pathways
12.58 RYR2 KCNQ1 KCNJ5 KCNJ2 CALM2 CACNA1C
3
Show member pathways
12.41 SCN5A SCN4B RYR2 KCNQ1 KCNE1 CALM2
4
Show member pathways
12.35 RYR2 KCNJ5 KCNJ2 CALM2 CACNA1C
5
Show member pathways
12.34 RYR2 KCNJ5 CALM2 CACNA1C
6
Show member pathways
12.29 RYR2 KCNQ1 KCNJ2 KCNE2 CALM2
7 12.27 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
8
Show member pathways
12.16 SCN5A SCN4B RYR2 MYBPC3 KCNQ1 KCNJ2
9 12.08 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
10
Show member pathways
11.98 KCNQ1 KCNJ5 KCNJ2 KCNH2
11
Show member pathways
11.83 SCN5A SCN4B ANK2
12
Show member pathways
11.63 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CALM2
13 11.55 KCNJ2 CALM2 CACNA1C
14 11.44 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
15 11.13 SCN5A SCN4B ANK2
16 10.86 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.21 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
2 cell surface GO:0009986 9.92 SCN5A KCNH2 KCNE2 KCNE1 CAV3
3 Z disc GO:0030018 9.8 SCN5A RYR2 KCNE1 CAV3 CACNA1C ANK2
4 membrane raft GO:0045121 9.76 KCNQ1 KCNE1 CAV3 ANK2
5 intercalated disc GO:0014704 9.65 SCN5A SCN4B KCNJ2 CAV3 ANK2
6 sarcolemma GO:0042383 9.63 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
7 lateral plasma membrane GO:0016328 9.61 SNTA1 SCN5A KCNQ1
8 sarcomere GO:0030017 9.58 RYR2 MYBPC3 CALM2
9 dystrophin-associated glycoprotein complex GO:0016010 9.51 SNTA1 CAV3
10 voltage-gated sodium channel complex GO:0001518 9.49 SCN5A SCN4B
11 A band GO:0031672 9.48 MYBPC3 ANK2
12 T-tubule GO:0030315 9.43 SCN5A KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
13 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.22 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
2 transmembrane transport GO:0055085 10.12 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 10.07 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 10.06 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
5 ion transmembrane transport GO:0034220 10.02 SCN5A RYR2 KCNJ5 KCNH2
6 cardiac muscle contraction GO:0060048 9.97 SCN5A SCN4B RYR2 MYBPC3 KCNQ1 KCNH2
7 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
8 potassium ion import across plasma membrane GO:1990573 9.91 KCNJ5 KCNJ2 KCNH2 KCNE2
9 regulation of cardiac muscle contraction GO:0055117 9.91 RYR2 RNF207 CAV3 CALM2 ANK2
10 regulation of heart rate GO:0002027 9.91 SNTA1 SCN5A RYR2 CAV3 CALM2 ANK2
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.9 RYR2 CALM2 CACNA1C ANK2
12 potassium ion export across plasma membrane GO:0097623 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.88 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
14 cellular response to drug GO:0035690 9.87 KCNQ1 KCNH2 KCNE2
15 positive regulation of potassium ion transmembrane transport GO:1901381 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
16 cellular response to cAMP GO:0071320 9.86 KCNQ1 KCNE1 AKAP9
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.86 SCN5A SCN4B KCNJ2 CACNA1C
18 cardiac conduction GO:0061337 9.86 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
19 membrane repolarization GO:0086009 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
20 regulation of membrane repolarization GO:0060306 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
22 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
23 ventricular cardiac muscle cell action potential GO:0086005 9.81 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
24 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
25 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNQ1 KCNE2 KCNE1
26 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
27 regulation of cardiac muscle cell contraction GO:0086004 9.79 SCN5A KCNJ2 ANK2
28 atrial cardiac muscle cell action potential GO:0086014 9.79 SCN5A KCNQ1 ANK2
29 regulation of sodium ion transmembrane transporter activity GO:2000649 9.72 SCN4B CAV3
30 membrane depolarization during action potential GO:0086010 9.72 SCN5A KCNH2
31 positive regulation of sodium ion transport GO:0010765 9.72 SCN5A SCN4B
32 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 RYR2 CACNA1C
33 calcium ion transport into cytosol GO:0060402 9.71 RYR2 CACNA1C
34 detection of calcium ion GO:0005513 9.71 RYR2 CALM2
35 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
36 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 CAV3
37 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.7 RYR2 CACNA1C
38 T-tubule organization GO:0033292 9.7 CAV3 ANK2
39 regulation of sodium ion transmembrane transport GO:1902305 9.7 SNTA1 SCN5A
40 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.69 CAV3 AKAP9
41 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.69 RYR2 ANK2
42 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 KCNE2 KCNE1
43 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 SCN5A CAV3
44 negative regulation of voltage-gated potassium channel activity GO:1903817 9.68 KCNQ1 KCNE2
45 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.68 ANK2 AKAP9
46 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 SCN5A KCNQ1
47 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.67 KCNQ1 KCNJ5
48 membrane depolarization during SA node cell action potential GO:0086046 9.67 SCN5A ANK2
49 membrane depolarization during AV node cell action potential GO:0086045 9.66 SCN5A CACNA1C
50 SA node cell action potential GO:0086015 9.66 SCN5A ANK2

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

(show all 19)
# 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 9.74 SCN5A KCNQ1 KCNH2
5 potassium channel regulator activity GO:0015459 9.72 KCNE2 KCNE1 AKAP9
6 voltage-gated potassium channel activity GO:0005249 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
7 sodium channel regulator activity GO:0017080 9.7 SNTA1 SCN4B CAV3
8 protein kinase A regulatory subunit binding GO:0034237 9.69 RYR2 KCNQ1 AKAP9
9 delayed rectifier potassium channel activity GO:0005251 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
10 inward rectifier potassium channel activity GO:0005242 9.62 KCNJ5 KCNJ2 KCNH2 KCNE2
11 nitric-oxide synthase binding GO:0050998 9.61 SNTA1 SCN5A CAV3
12 voltage-gated ion channel activity GO:0005244 9.61 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
13 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
14 titin binding GO:0031432 9.58 MYBPC3 CALM2
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.56 SCN5A SCN4B
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
18 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.54 KCNQ1 KCNJ5
19 ion channel binding GO:0044325 9.4 SNTA1 SCN5A SCN4B RYR2 RNF207 KCNQ1

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