LQT
MCID: LNG028
MIFTS: 68

Long Qt Syndrome (LQT)

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

Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 12 75 24 53 37 29 55 6 44 15 38 63 72
Romano-Ward Syndrome 12 44 72
Long Q-T Syndrome 12
Qt Syndrome, Long 40
Lqt 12

Characteristics:

GeneReviews:

24
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 37 H00720
ICD9CM 35 426.82
SNOMED-CT 68 20852007 9651007
ICD10 33 I45.81
UMLS 72 C0023976 C0035828

Summaries for Long Qt Syndrome

KEGG : 37
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 9 and long qt syndrome 13, 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 Ritonavir and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are Reduced mammosphere formation 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).

NIH Rare Diseases : 53 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 : 63 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 : 75 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. It... 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 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 294)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 35.6 SNTA1 SCN5A KCNJ2 CAV3
2 long qt syndrome 13 35.6 SCN5A KCNQ1 KCNJ5 KCNH2
3 long qt syndrome 15 35.5 CALM3 CALM2 CALM1
4 long qt syndrome 3 35.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 ANK2
5 long qt syndrome 12 35.4 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
6 long qt syndrome 14 35.1 CALM1 ANK2
7 timothy syndrome 35.0 KCNQ1 KCNH2 KCNE1 CACNA1C
8 long qt syndrome 6 35.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
9 long qt syndrome 2 34.9 SNTA1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
10 long qt syndrome 5 34.9 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
11 andersen cardiodysrhythmic periodic paralysis 34.4 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
12 jervell and lange-nielsen syndrome 1 34.3 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
13 long qt syndrome 1 33.8 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
14 syncope 32.9 SCN5A KCNQ1 KCNJ2 KCNH2
15 cardiac conduction defect 32.7 SCN5A RYR2 KCNQ1 KCNH2
16 atrioventricular block 32.3 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
17 ventricular fibrillation, paroxysmal familial, 1 32.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
18 cardiac arrest 32.0 SCN5A RYR2 KCNQ1 KCNH2 CALM3 CALM2
19 dilated cardiomyopathy 31.7 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
20 cardiac arrhythmia 31.7 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
21 sick sinus syndrome 31.7 SNTA1 SCN5A CACNA1C
22 sudden infant death syndrome 31.6 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
23 familial short qt syndrome 31.6 KCNQ1 KCNJ2 KCNH2
24 short qt syndrome 31.6 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
25 catecholaminergic polymorphic ventricular tachycardia 31.4 SCN5A RYR2 KCNJ2 KCNH2 CALM3 CALM2
26 brugada syndrome 1 31.4 SCN5A KCNH2 AKAP9
27 hypertrophic cardiomyopathy 31.3 SCN5A RYR2 CAV3 CACNA1C
28 right bundle branch block 31.3 SCN5A SCN1B CACNA1C
29 arrhythmogenic right ventricular cardiomyopathy 31.2 SCN5A RYR2 KCNH2 ANK2
30 left ventricular noncompaction 31.2 SNTA1 SCN5A RYR2 KCNQ1
31 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.2 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CALM1
32 heart disease 31.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
33 brugada syndrome 31.1 SNTA1 SCN5A SCN4B SCN1B KCNQ1 KCNH2
34 atrial fibrillation 30.9 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ2
35 familial atrial fibrillation 30.8 SCN5A SCN4B SCN1B KCNQ1 KCNJ2 KCNH2
36 long qt syndrome 11 12.9
37 long qt syndrome 10 12.8
38 long qt syndrome 8 12.7
39 familial long qt syndrome 12.7
40 cardiac arrhythmia, ankyrin-b-related 12.5
41 3-methylglutaconic aciduria, type v 11.4
42 qt interval, variation in 11.2
43 ventricular tachycardia, catecholaminergic polymorphic, 3 11.2
44 glycogen storage disease type 0 11.2
45 external ear disease 10.8 CALM3 CALM2 CALM1
46 otomycosis 10.8 CALM3 CALM2 CALM1
47 otitis externa 10.8 CALM3 CALM2 CALM1
48 sporotrichosis 10.8 CALM3 CALM2 CALM1
49 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.8 CALM3 CALM2 CALM1
50 spontaneous ocular nystagmus 10.8 CALM3 CALM2 CALM1

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

GenomeRNAi Phenotypes related to Long Qt Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.28 AKAP9 ALG10B CALM1 CALM2 CALM3 CAV3

MGI Mouse Phenotypes related to Long Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 RYR2

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 192)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
3
Methyltestosterone Approved Phase 4 58-18-4 6010
4
Testosterone enanthate Approved Phase 4 315-37-7 9416
5
Testosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 6013 10204
6
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
9
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
10
Methadone Approved, Illicit Phase 4 76-99-3 4095
11
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
12
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
13
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
14
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
15
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
16
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
17
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
18
Polyestradiol phosphate Approved Phase 4 28014-46-2
19
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
20 Cytochrome P-450 CYP3A Inhibitors Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4
22 HIV Protease Inhibitors Phase 4
23
protease inhibitors Phase 4
24 Anti-HIV Agents Phase 4
25 Anti-Retroviral Agents Phase 4
26 Antiviral Agents Phase 4
27 Integrase Inhibitors Phase 4
28 Raltegravir Potassium Phase 4
29 HIV Integrase Inhibitors Phase 4
30 Atazanavir Sulfate Phase 4
31 Adrenergic alpha-Agonists Phase 4
32 Adrenergic Agonists Phase 4
33 Androgens Phase 4
34 Anabolic Agents Phase 4
35 Antineoplastic Agents, Hormonal Phase 4
36 Testosterone 17 beta-cypionate Phase 4
37 Analgesics, Non-Narcotic Phase 4
38 Hypnotics and Sedatives Phase 4
39 Adrenergic alpha-2 Receptor Agonists Phase 4
40 Pharmaceutical Solutions Phase 4
41 Neurotransmitter Agents Phase 4
42 Respiratory System Agents Phase 4
43 Peripheral Nervous System Agents Phase 4
44 Adrenergic Agents Phase 4
45 Autonomic Agents Phase 4
46 Diuretics, Potassium Sparing Phase 4
47 Hormones Phase 4
48 Adrenergic beta-Antagonists Phase 4
49 Hormone Antagonists Phase 4
50 Adrenergic Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 An Open-label, Randomised Pilot Study Comparing the Efficacy, Safety and Tolerability of Raltegravir With Protease Inhibitor-based Therapy in Treatment-naïve, HIV/Hepatitis C Co-infected Injecting Drug Users Receiving Methadone Unknown status NCT01105611 Phase 4 Raltegravir;Atazanavir/Ritonavir
2 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
3 The Effects of Dexmedetomidine on Myocardial Repolarization in Children Completed NCT02353169 Phase 4 Dexmedetomidine
4 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
5 Effect of Methadone and Hydromorphone on the QT Interval After Anesthesia and Surgery Recruiting NCT03893734 Phase 4 methadone;Hydromorphone
6 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
7 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
8 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
9 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
10 ECG Device for Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
11 Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
12 Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
13 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
14 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
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 Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
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 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
21 Identification of the Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation at a Pharmacological and Physiological Stimulus in an Apparently Normal Population Completed NCT00773201 Phase 1 Sotalol 80 mg
22 Investigation of the Effect on the QT/QTc Interval After Multiple Dose Oral Administration (100 and 200 mg Bid) of CG5503 PR in a Randomised, Double-blind, Double-dummy Placebo- and Moxifloxacin-controlled 4- Way Cross-over Phase I Study in 48 Healthy Male and Female Volunteers Completed NCT03951402 Phase 1 100 mg CG5503 (tapentadol hydrochloride) PR tablet;Placebo matching CG5503 PR tablet;Placebo matching moxifloxacin capsule;400 mg Moxifloxacin tablet (overencapsulated)
23 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
24 Phase Ib Clinical Study to Assess the Safety, Tolerability and Pharmacokinetic Parameters of CN128 Tablets to Administration in Thalassemia Patients Aged 16 and Above Completed NCT03935633 Phase 1 CN128 Tablets
25 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
26 A Food Effect and QTc Study of Perifosine in Patients With Advanced Malignancies Completed NCT01224730 Phase 1 perifosine
27 A First in Human, Randomized, Double-blind, Single Ascending Dose, Phase Ia Clinical Study to Assess the Safety, Tolerability and Pharmacokinetic Parameters of CN128 Tablets in Thalassemia Patients Aged 16 and Above Recruiting NCT03673085 Phase 1 CN128
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 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
30 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
31 Influence of Cortisone on QTc-interval Unknown status NCT03082339
32 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
33 Hydroxyzine and Risk of Prolongation of QT Interval Unknown status NCT02814981
34 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
35 The Influence of Iatrogenic Chronotropic Incompetence on Exercise Tolerance in Pacemaker Patients With Chronic Heart Failure. Unknown status NCT02247245 Ivabradine
36 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
37 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
38 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
39 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
40 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
41 The Long QT Syndrome in Pregnancy Completed NCT00488254
42 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
43 Linkage Study of Long QT Syndrome In An Amish Kindred Completed NCT00005250
44 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
45 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
46 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
47 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol
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 Fetal and Neonatal Magnetophysiology Completed NCT01903564

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: romano-ward 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:

41
Heart, Testes, Brain, Lung, Cardiac Myocytes, Skeletal Muscle, Eye

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 4787)
# Title Authors PMID Year
1
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 9 38 4
11710892 2001
2
Early somatic mosaicism is a rare cause of long-QT syndrome. 38 4
27681629 2016
3
Inherited ion channel diseases: a brief review. 38 4
26842110 2015
4
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 38 4
26132555 2015
5
Genotype- and phenotype-guided management of congenital long QT syndrome. 38 4
24093767 2013
6
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 38 4
23631430 2013
7
Calmodulin mutations associated with recurrent cardiac arrest in infants. 38 4
23388215 2013
8
Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. 38 4
23083782 2012
9
Long-QT syndrome: from genetics to management. 38 4
22895603 2012
10
Competitive sports participation in athletes with congenital long QT syndrome. 38 4
22820673 2012
11
Mortality of inherited arrhythmia syndromes: insight into their natural history. 38 4
22373669 2012
12
Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. 38 4
22042885 2011
13
QTc behavior during exercise and genetic testing for the long-QT syndrome. 38 4
22083145 2011
14
The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. 38 4
21699858 2011
15
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. 38 4
21185499 2011
16
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 38 4
21185501 2011
17
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. 38 4
20541041 2010
18
Identification of a Kir3.4 mutation in congenital long QT syndrome. 38 4
20560207 2010
19
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. 38 4
20116193 2010
20
Risk of fatal arrhythmic events in long QT syndrome patients after syncope. 38 4
20170817 2010
21
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 38 4
19716085 2009
22
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. 38 4
19695463 2009
23
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". 38 4
19118258 2009
24
Long QT Syndrome. 38 4
18835466 2008
25
Risk of death in the long QT syndrome when a sibling has died. 38 4
18534367 2008
26
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 38 4
18093912 2007
27
Long QT syndrome and pregnancy. 38 4
17349890 2007
28
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 38 4
17275750 2007
29
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. 38 4
17242276 2007
30
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 38 4
17210839 2007
31
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 38 4
17060380 2006
32
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. 38 4
16012827 2006
33
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. 38 4
16534005 2006
34
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 38 4
15840476 2005
35
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. 38 4
15367556 2004
36
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. 38 4
15851169 2004
37
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. 38 4
15051644 2004
38
Compound mutations: a common cause of severe long-QT syndrome. 38 4
15051636 2004
39
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. 38 4
14521668 2003
40
Risk stratification in the long-QT syndrome. 38 4
12736279 2003
41
Implantable cardioverter defibrillator in high-risk long QT syndrome patients. 38 4
12741701 2003
42
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 38 4
12566525 2003
43
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 38 4
12571597 2003
44
Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. 38 4
12004990 2002
45
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 38 4
11136691 2001
46
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 38 4
11104743 2000
47
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. 38 4
10673253 2000
48
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 38 4
9753711 1998
49
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. 38 4
9631873 1998
50
Rate adaptation of QT intervals during and after exercise in children with congenital long QT syndrome. 38 4
9568456 1998

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 2973)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNE1 NM_000219.6(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1805128 21:35821680-35821680 21:34449382-34449382
2 SLC2A5 NM_001328619.2(SLC2A5): c.808C> T (p.Arg270Trp) single nucleotide variant association rs779760381 1:9099936-9099936 1:9039877-9039877
3 KCNQ1 NM_000218.2(KCNQ1): c.1733-1G> C single nucleotide variant Pathogenic rs878854348 11:2799205-2799205 11:2777975-2777975
4 KCNH2 NM_000238.3(KCNH2): c.473_501dup (p.Pro168Alafs) duplication Pathogenic rs863224478 7:150655562-150655590 7:150958474-150958502
5 KCNH2 NM_000238.3(KCNH2): c.3094del (p.Arg1032fs) deletion Pathogenic rs864622309 7:150644474-150644474 7:150947386-150947386
6 KCNH2 NM_000238.3(KCNH2): c.3060del (p.Ser1021fs) deletion Pathogenic rs864622174 7:150644508-150644508 7:150947420-150947420
7 KCNH2 NM_000238.3(KCNH2): c.2587C> T (p.Arg863Ter) single nucleotide variant Pathogenic rs773724817 7:150645949-150645949 7:150948861-150948861
8 KCNQ1 NM_000218.2(KCNQ1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs199473441 11:2466329-2466329 11:2445099-2445099
9 KCNH2 NM_000238.3(KCNH2): c.1479C> A (p.Tyr493Ter) single nucleotide variant Pathogenic rs878853771 7:150649591-150649591 7:150952503-150952503
10 KCNQ1 NM_000218.2(KCNQ1): c.513C> A (p.Tyr171Ter) single nucleotide variant Pathogenic rs139042529 11:2591893-2591893 11:2570663-2570663
11 CAV3 NM_033337.2(CAV3): c.10_17del (p.Glu4fs) deletion Pathogenic rs778914298 3:8775572-8775579 3:8733886-8733893
12 KCNH2 NM_000238.3(KCNH2): c.1778T> A (p.Ile593Lys) single nucleotide variant Pathogenic rs28928904 7:150648703-150648703 7:150951615-150951615
13 KCNH2 NM_000238.3(KCNH2): c.1810G> A (p.Gly604Ser) single nucleotide variant Pathogenic rs199473522 7:150648671-150648671 7:150951583-150951583
14 KCNH2 NM_000238.3(KCNH2): c.1825G> A (p.Asp609Asn) single nucleotide variant Pathogenic rs199472941 7:150648656-150648656 7:150951568-150951568
15 KCNH2 NM_000238.3(KCNH2): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs199473524 7:150648643-150648643 7:150951555-150951555
16 KCNH2 NM_000238.3(KCNH2): c.1886A> G (p.Asn629Ser) single nucleotide variant Pathogenic rs199472957 7:150648595-150648595 7:150951507-150951507
17 KCNH2 NM_000238.3(KCNH2): c.1909G> A (p.Glu637Lys) single nucleotide variant Pathogenic rs199472968 7:150648572-150648572 7:150951484-150951484
18 KCNH2 NM_000238.3(KCNH2): c.1969G> A (p.Gly657Ser) single nucleotide variant Pathogenic rs199472978 7:150648185-150648185 7:150951097-150951097
19 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 3:38647549-38647549 3:38606058-38606058
20 CACNA1C NM_001129840.2(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 12:2613692-2613692 12:2504526-2504526
21 KCNH2 NM_000238.3(KCNH2): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs189014161 7:150647424-150647424 7:150950336-150950336
22 KCNH2 NM_000238.3(KCNH2): c.685G> T (p.Glu229Ter) single nucleotide variant Pathogenic rs730880116 7:150655378-150655378 7:150958290-150958290
23 KCNH2 NM_000238.3(KCNH2): c.2900dup (p.Pro968fs) duplication Pathogenic rs786204101 7:150644759-150644759 7:150947671-150947671
24 CACNA1C NM_000719.7(CACNA1C): c.1552C> T (p.Arg518Cys) single nucleotide variant Pathogenic rs786205748 12:2675631-2675631 12:2566465-2566465
25 RYR2 NM_001035.3(RYR2): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic rs794728721 1:237608789-237608789 1:237445489-237445489
26 KCNH2 NM_000238.3(KCNH2): c.3107del (p.Gly1036fs) deletion Pathogenic rs794728469 7:150644461-150644461 7:150947373-150947373
27 KCNH2 NM_000238.3(KCNH2): c.3107dup (p.Asp1037fs) duplication Pathogenic rs794728469 7:150644461-150644461 7:150947373-150947373
28 KCNH2 NM_000238.3(KCNH2): c.3103del (p.Arg1035fs) deletion Pathogenic rs794728468 7:150644465-150644465 7:150947377-150947377
29 KCNH2 NM_000238.3(KCNH2): c.3040C> T (p.Arg1014Ter) single nucleotide variant Pathogenic rs794728403 7:150644528-150644528 7:150947440-150947440
30 KCNH2 NM_000238.3(KCNH2): c.3017del (p.Gly1006fs) deletion Pathogenic rs794728504 7:150644551-150644551 7:150947463-150947463
31 KCNH2 NM_000238.3(KCNH2): c.3002G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs794728401 7:150644566-150644566 7:150947478-150947478
32 KCNH2 NM_000238.3(KCNH2): c.3105_3112dup (p.Val1038fs) duplication Pathogenic rs794728470 7:150644456-150644463 7:150947368-150947375
33 KCNH2 NM_000238.3(KCNH2): c.2959_2960del (p.Leu987fs) deletion Pathogenic rs748706373 7:150644699-150644700 7:150947611-150947612
34 KCNH2 NM_000238.3(KCNH2): c.2780G> A (p.Trp927Ter) single nucleotide variant Pathogenic rs794728399 7:150644879-150644879 7:150947791-150947791
35 KCNH2 NM_000238.3(KCNH2): c.2775dup (p.Pro926fs) duplication Pathogenic rs794728455 7:150644884-150644884 7:150947796-150947796
36 KCNH2 NM_172056.2(KCNH2): c.2403G> T (p.Met801Ile) single nucleotide variant Pathogenic 7:150647251-150647251 7:150950163-150950163
37 KCNH2 NM_000238.3(KCNH2): c.1945+6T> C single nucleotide variant Pathogenic rs794728380 7:150648530-150648530 7:150951442-150951442
38 KCNH2 NM_000238.3(KCNH2): c.735_754dup (p.Arg252fs) duplication Pathogenic rs794728425 7:150655309-150655328 7:150958221-150958240
39 KCNH2 NM_000238.3(KCNH2): c.154del (p.Cys52fs) deletion Pathogenic rs794728508 7:150671952-150671952 7:150974864-150974864
40 KCNQ1 NM_000218.2(KCNQ1): c.477+1G> A single nucleotide variant Pathogenic rs762814879 11:2549249-2549249 11:2528019-2528019
41 KCNQ1 NM_000218.2(KCNQ1): c.1081C> T (p.Gln361Ter) single nucleotide variant Pathogenic rs794728571 11:2606490-2606490 11:2585260-2585260
42 KCNQ1 NM_000218.2(KCNQ1): c.1446del (p.Asn483fs) deletion Pathogenic rs794728558 11:2683243-2683243 11:2662013-2662013
43 KCNQ1 NM_000218.2(KCNQ1): c.1780C> T (p.Arg594Ter) single nucleotide variant Pathogenic rs794728537 11:2799253-2799253 11:2778023-2778023
44 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 7:150648640-150648640 7:150951552-150951552
45 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 11:2591949-2591949 11:2570719-2570719
46 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 11:2593319-2593319 11:2572089-2572089
47 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 11:2604765-2604765 11:2583535-2583535
48 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 11:2604765-2604765 11:2583535-2583535
49 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 11:2797262-2797262 11:2776032-2776032
50 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 11:2790111-2790111 11:2768881-2768881

Copy number variations for Long Qt Syndrome from CNVD:

7
# CNVD ID Chromosom 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 rearrangemen t KCNE2 Long-qt syndrome
4 221894 7 147500000 154700000 Genomic rearrangement KCNH2 Long-qt syndrome
5 221896 11 2422796 2826916 Genomic rearrangemen t KCNQ1 Long-qt syndrome
6 221898 3 38564556 38666167 Genomic rearrangemen t 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:

37
# 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 top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 SCN5A SCN4B SCN1B RYR2 CALM3 CALM2
2
Show member pathways
13.48 SCN5A SCN4B SCN1B CALM3 CALM2 CALM1
3
Show member pathways
13.09 RYR2 CALM3 CALM2 CALM1 CACNA1C AKAP9
4
Show member pathways
13.01 SCN5A SCN4B SCN1B KCNJ5 CALM3 CALM2
5
Show member pathways
12.98 KCNQ1 KCNJ5 KCNJ2 KCNH2 CALM3 CALM2
6
Show member pathways
12.96 RYR2 NOS1AP KCNQ1 KCNJ5 KCNJ2 CALM3
7
Show member pathways
12.83 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
8
Show member pathways
12.62 SNTA1 RYR2 CALM3 CALM2 CALM1 CACNA1C
9
Show member pathways
12.53 CALM3 CALM2 CALM1 CACNA1C
10
Show member pathways
12.52 RYR2 CALM3 CALM2 CALM1
11
Show member pathways
12.52 RYR2 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
12
Show member pathways
12.32 CALM3 CALM2 CALM1 CACNA1C
13 12.31 RYR2 CALM3 CALM2 CALM1 CACNA1C
14
Show member pathways
12.27 RYR2 CALM3 CALM2 CALM1 CACNA1C
15
Show member pathways
12.25 CALM3 CALM2 CALM1 AKAP9
16 12.25 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
17
Show member pathways
12.23 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ2
18
Show member pathways
12.2 CALM3 CALM2 CALM1 CACNA1C
19 12.18 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
20
Show member pathways
12.15 KCNQ1 KCNJ2 KCNE2 CALM3 CALM2 CALM1
21
Show member pathways
12.14 KCNQ1 KCNJ5 KCNJ2 KCNH2
22
Show member pathways
12.13 CALM3 CALM2 CALM1 CACNA1C
23 12.11 CAV3 CALM3 CALM2 CALM1
24 12.1 RYR2 CALM3 CALM2 CALM1
25
Show member pathways
12.05 SCN5A SCN4B SCN1B ANK2
26
Show member pathways
12.03 CALM3 CALM2 CALM1 CACNA1C
27
Show member pathways
12 CALM3 CALM2 CALM1 CACNA1C
28
Show member pathways
11.96 CALM3 CALM2 CALM1
29
Show member pathways
11.92 CALM3 CALM2 CALM1
30 11.92 CALM3 CALM2 CALM1
31 11.9 CALM3 CALM2 CALM1
32
Show member pathways
11.88 CALM3 CALM2 CALM1
33
Show member pathways
11.87 SCN5A SCN4B SCN1B KCNQ1 KCNE2 KCNE1
34
Show member pathways
11.86 CALM3 CALM2 CALM1
35
Show member pathways
11.85 CALM3 CALM2 CALM1
36
Show member pathways
11.78 CALM3 CALM2 CALM1
37 11.76 CALM3 CALM2 CALM1
38
Show member pathways
11.76 CALM3 CALM2 CALM1
39 11.75 CALM3 CALM2 CALM1
40
Show member pathways
11.7 CALM3 CALM2 CALM1
41 11.66 CALM3 CALM2 CALM1
42
Show member pathways
11.65 CALM3 CALM2 CALM1
43 11.64 KCNJ2 CALM3 CALM2 CALM1 CACNA1C
44 11.59 CALM3 CALM2 CALM1 CACNA1C
45 11.56 CALM3 CALM2 CALM1
46 11.48 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
47 11.39 CALM3 CALM2 CALM1 CACNA1C
48 11.39 CALM3 CALM2 CALM1
49 11.37 CALM3 CALM2 CALM1
50 11.37 CAV3 CALM3 CALM2 CALM1

GO Terms for Long Qt Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.99 SCN5A KCNH2 KCNE2 KCNE1 CAV3
2 Z disc GO:0030018 9.87 SCN5A RYR2 NOS1AP KCNE1 CAV3 CACNA1C
3 membrane raft GO:0045121 9.86 KCNQ1 KCNE1 CAV3 ANK2
4 vesicle GO:0031982 9.83 CAV3 CALM3 CALM2 CALM1
5 sarcomere GO:0030017 9.76 RYR2 CALM3 CALM2 CALM1
6 intercalated disc GO:0014704 9.73 SCN5A SCN4B SCN1B KCNJ2 CAV3 ANK2
7 caveola GO:0005901 9.72 SCN5A NOS1AP CAV3
8 calcium channel complex GO:0034704 9.71 RYR2 CALM3 CALM2 CALM1
9 sarcolemma GO:0042383 9.7 SNTA1 SCN5A RYR2 NOS1AP CAV3 CACNA1C
10 spindle microtubule GO:0005876 9.69 CALM3 CALM2 CALM1
11 voltage-gated sodium channel complex GO:0001518 9.65 SCN5A SCN4B SCN1B
12 catalytic complex GO:1902494 9.61 CALM3 CALM2 CALM1
13 L-type voltage-gated calcium channel complex GO:1990454 9.58 NOS1AP CACNA1C
14 T-tubule GO:0030315 9.5 SCN5A SCN1B NOS1AP KCNJ5 KCNJ2 CAV3
15 inward rectifier potassium channel complex GO:1902937 9.49 NOS1AP KCNH2
16 voltage-gated potassium channel complex GO:0008076 9.28 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
17 membrane GO:0016020 10.46 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
18 integral component of membrane GO:0016021 10.38 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
19 plasma membrane GO:0005886 10.32 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
20 protein-containing complex GO:0032991 10.01 SNTA1 RYR2 CAV3 CALM3 CALM2 CALM1

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

(show top 50) (show all 83)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.97 RYR2 CALM3 CALM2 CALM1
2 muscle contraction GO:0006936 9.94 SNTA1 CAV3 CALM1
3 positive regulation of potassium ion transmembrane transport GO:1901381 9.93 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
4 sodium ion transmembrane transport GO:0035725 9.92 SCN5A SCN4B SCN1B
5 regulation of heart rate GO:0002027 9.92 SNTA1 SCN5A RYR2 CAV3 CALM3 CALM2
6 cellular response to drug GO:0035690 9.91 KCNQ1 KCNH2 KCNE2
7 response to calcium ion GO:0051592 9.91 CALM3 CALM2 CALM1
8 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.91 RYR2 CALM3 CALM2 CALM1 CACNA1C ANK2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.91 SCN5A SCN4B SCN1B KCNJ2 KCNE2 KCNE1
11 ventricular cardiac muscle cell action potential GO:0086005 9.91 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
12 cellular response to cAMP GO:0071320 9.9 KCNQ1 KCNE1 AKAP9
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.9 CALM3 CALM2 CALM1
14 substantia nigra development GO:0021762 9.89 CALM3 CALM2 CALM1
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.89 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
16 regulation of cytokinesis GO:0032465 9.88 CALM3 CALM2 CALM1
17 potassium ion import across plasma membrane GO:1990573 9.88 KCNJ5 KCNJ2 KCNE2
18 potassium ion export across plasma membrane GO:0097623 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
19 detection of calcium ion GO:0005513 9.88 RYR2 CALM3 CALM2 CALM1
20 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B SCN1B KCNJ2 CACNA1C
21 regulation of cardiac muscle contraction GO:0055117 9.88 RYR2 CAV3 CALM3 CALM2 CALM1 ANK2
22 ion transmembrane transport GO:0034220 9.87 SCN5A RYR2 CACNA1C
23 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM3 CALM2 CALM1
24 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
25 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
26 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM3 CALM2 CALM1
27 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM3 CALM2 CALM1
28 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM3 CALM2 CALM1
29 positive regulation of nitric-oxide synthase activity GO:0051000 9.85 NOS1AP CALM3 CALM1
30 membrane repolarization during action potential GO:0086011 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
31 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
32 regulation of sodium ion transmembrane transporter activity GO:2000649 9.84 SCN4B SCN1B CAV3
33 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
34 positive regulation of sodium ion transport GO:0010765 9.83 SCN5A SCN4B SCN1B
35 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM3 CALM2 CALM1
36 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.82 CALM3 CALM2 CALM1
37 regulation of cardiac muscle cell contraction GO:0086004 9.82 SCN5A KCNJ2 ANK2
38 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.81 CALM3 CALM2 CALM1
39 atrial cardiac muscle cell action potential GO:0086014 9.8 SCN5A KCNQ1 ANK2
40 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM3 CALM2 CALM1
41 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.79 CALM3 CALM2 CALM1
42 regulation of high voltage-gated calcium channel activity GO:1901841 9.79 NOS1AP CALM3 CALM1
43 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.78 CALM3 CALM2 CALM1
44 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.77 CALM3 CALM2 CALM1
45 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.76 CALM3 CALM1
46 membrane depolarization during action potential GO:0086010 9.76 SCN5A KCNH2
47 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.76 KCNE2 KCNE1
48 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 RYR2 CACNA1C
49 calcium ion transport into cytosol GO:0060402 9.75 RYR2 CACNA1C
50 cellular response to epinephrine stimulus GO:0071872 9.75 RYR2 KCNQ1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.97 SCN5A CALM3 CALM2 CALM1
2 calmodulin binding GO:0005516 9.96 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
3 ion channel activity GO:0005216 9.94 SCN5A RYR2 KCNH2 CACNA1C
4 potassium channel activity GO:0005267 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
6 scaffold protein binding GO:0097110 9.82 SCN5A KCNQ1 KCNH2
7 potassium channel regulator activity GO:0015459 9.8 KCNE2 KCNE1 AKAP9
8 disordered domain specific binding GO:0097718 9.8 CALM3 CALM2 CALM1
9 sodium channel regulator activity GO:0017080 9.8 SNTA1 SCN4B SCN1B CAV3
10 sodium channel activity GO:0005272 9.79 SCN5A SCN4B SCN1B
11 protein serine/threonine kinase activator activity GO:0043539 9.79 CALM3 CALM2 CALM1
12 delayed rectifier potassium channel activity GO:0005251 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
13 voltage-gated sodium channel activity GO:0005248 9.75 SCN5A SCN4B SCN1B
14 protein kinase A regulatory subunit binding GO:0034237 9.74 RYR2 KCNQ1 AKAP9
15 titin binding GO:0031432 9.71 CALM3 CALM2 CALM1
16 adenylate cyclase binding GO:0008179 9.7 CALM3 CALM2 CALM1
17 protein phosphatase activator activity GO:0072542 9.69 CALM3 CALM2 CALM1
18 inward rectifier potassium channel activity GO:0005242 9.67 KCNJ5 KCNJ2 KCNH2 KCNE2
19 protein kinase A catalytic subunit binding GO:0034236 9.66 RYR2 KCNQ1
20 calcium channel inhibitor activity GO:0019855 9.66 CALM2 CALM1
21 nitric-oxide synthase regulator activity GO:0030235 9.65 CALM3 CALM1
22 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
23 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.63 KCNQ1 KCNJ5
24 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.63 SCN5A SCN4B SCN1B
25 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A NOS1AP CAV3 CALM3 CALM1
26 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
27 adenylate cyclase activator activity GO:0010856 9.61 CALM3 CALM2 CALM1
28 voltage-gated ion channel activity GO:0005244 9.61 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
29 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.6 SCN5A SCN1B
30 type 3 metabotropic glutamate receptor binding GO:0031800 9.59 CALM3 CALM1
31 N-terminal myristoylation domain binding GO:0031997 9.58 CALM3 CALM2 CALM1
32 ion channel binding GO:0044325 9.47 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
33 G-protein activated inward rectifier potassium channel activity GO:0015467 9.35 KCNJ5
34 protein binding GO:0005515 10.58 SNTA1 SCN5A SCN1B RYR2 NOS1AP KCNQ1
35 protein kinase binding GO:0019901 10.08 SCN5A RYR2 CALM3 CALM2 CALM1 ANK2

Sources for Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....