LQT
MCID: LNG028
MIFTS: 66

Long Qt Syndrome (LQT)

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

Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 12 74 24 52 36 29 54 6 43 15 37 62 71
Romano-Ward Syndrome 12 71
Long Q-T Syndrome 12
Qt Syndrome, Long 39
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 36 H00720
ICD9CM 34 426.82
MeSH 43 D008133
NCIt 49 C34786
SNOMED-CT 67 20852007 9651007
ICD10 32 I45.81
UMLS 71 C0023976 C0035828

Summaries for Long Qt Syndrome

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

MalaCards based summary : Long Qt Syndrome, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 5, 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 Decreased viability and Decreased viability

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

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

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

GeneReviews: NBK1129

Related Diseases for Long Qt Syndrome

Diseases in the Long Qt Syndrome family:

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

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

(show top 50) (show all 299)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 35.7 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
2 long qt syndrome 5 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
3 long qt syndrome 9 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
4 long qt syndrome 6 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
5 long qt syndrome 3 35.6 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
6 long qt syndrome 1 35.6 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
7 long qt syndrome 12 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
8 long qt syndrome 13 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
9 long qt syndrome 14 35.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CALM3
10 long qt syndrome 11 35.5 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
11 long qt syndrome 10 35.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
12 long qt syndrome 15 35.5 SCN1B KCNJ2 KCNE1 CALM2 CALM1 CACNA1C
13 familial long qt syndrome 35.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
14 timothy syndrome 35.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
15 cardiac arrhythmia, ankyrin-b-related 35.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
16 andersen cardiodysrhythmic periodic paralysis 35.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
17 jervell and lange-nielsen syndrome 1 34.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
18 syncope 32.8 SCN5A RYR2 KCNQ1 KCNH2
19 ventricular tachycardia, catecholaminergic polymorphic, 3 32.7 RYR2 KCNJ2
20 cardiac conduction defect 32.7 SCN5A RYR2 MYBPC3 KCNQ1 KCNH2 ANK2
21 ventricular fibrillation, paroxysmal familial, 1 32.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
22 cardiac arrest 32.5 SCN5A RYR2 NOS1AP MYBPC3 KCNQ1 KCNH2
23 atrioventricular block 32.4 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
24 cardiac arrhythmia 32.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
25 brugada syndrome 32.1 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
26 sudden infant death syndrome 32.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
27 atrial standstill 1 31.9 SCN5A SCN1B RYR2 MYBPC3 CAV3
28 catecholaminergic polymorphic ventricular tachycardia 31.9 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
29 hypertrophic cardiomyopathy 31.8 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
30 hypokalemia 31.8 KCNQ1 KCNJ5 KCNH2
31 sick sinus syndrome 31.8 SNTA1 SCN5A SCN1B KCNQ1 KCNJ2 CACNA1C
32 sinoatrial node disease 31.7 SCN5A SCN1B RYR2 KCNQ1 KCNJ2 KCNH2
33 short qt syndrome 31.7 SCN5A SCN4B SCN1B RYR2 NOS1AP KCNQ1
34 dilated cardiomyopathy 31.7 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
35 arrhythmogenic right ventricular cardiomyopathy 31.6 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
36 atrial fibrillation 31.5 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
37 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.5 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CALM1
38 progressive familial heart block, type ia 31.5 SCN5A MYBPC3 ANK2
39 familial short qt syndrome 31.4 KCNQ1 KCNJ2 KCNH2
40 heart disease 31.4 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
41 left ventricular noncompaction 31.4 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
42 right bundle branch block 31.3 SCN5A SCN1B KCNH2 CACNA1C
43 brugada syndrome 1 31.3 SCN5A RYR2 KCNH2 AKAP9
44 chromosome 2q35 duplication syndrome 31.3 KCNQ1 KCNJ2 CACNA1C
45 congestive heart failure 31.3 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2 KCNE2
46 familial atrial fibrillation 31.3 SNTA1 SCN5A SCN4B SCN1B RYR2 MYBPC3
47 lipoprotein quantitative trait locus 30.9 SCN5A RYR2 KCNJ5 KCNH2
48 brugada syndrome 4 30.9 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
49 malignant hyperthermia 30.8 SCN5A RYR2 KCNH2 CAV3 CACNA1C
50 restrictive cardiomyopathy 30.0 MYBPC3 CACNA1C AKAP9

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 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.17 CALM2
2 Decreased viability GR00221-A-1 10.17 AKAP9 CALM2
3 Decreased viability GR00221-A-2 10.17 CALM1 CALM2
4 Decreased viability GR00221-A-3 10.17 CALM1
5 Decreased viability GR00221-A-4 10.17 CALM1 CALM2
6 Decreased viability GR00240-S-1 10.17 AKAP9
7 Decreased viability GR00249-S 10.17 CACNA1C CALM2 KCNE2 RYR2 SCN1B
8 Decreased viability GR00301-A 10.17 AKAP9 CALM1 CALM2
9 Decreased viability GR00342-S-1 10.17 CALM3
10 Decreased viability GR00342-S-2 10.17 CALM3
11 Decreased viability GR00342-S-3 10.17 CALM3
12 Decreased viability GR00381-A-1 10.17 KCNJ5 MYBPC3
13 Decreased viability GR00381-A-3 10.17 KCNJ5
14 Decreased viability GR00386-A-1 10.17 MYBPC3
15 Decreased viability GR00402-S-2 10.17 CALM1 KCNE2 KCNJ2 KCNJ5 KCNQ1 MYBPC3
16 Reduced mammosphere formation GR00396-S 9.28 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNJ5

MGI Mouse Phenotypes related to Long Qt Syndrome:

45
# 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 173)
# 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
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Methyltestosterone Approved Phase 4 58-18-4 6010
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Methadone Approved Phase 4 76-99-3 4095
10
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
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
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
15
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Cytochrome P-450 CYP3A Inhibitors Phase 4
18 Anti-HIV Agents Phase 4
19
protease inhibitors Phase 4
20 Antiviral Agents Phase 4
21 HIV Protease Inhibitors Phase 4
22 Anti-Retroviral Agents Phase 4
23 Integrase Inhibitors Phase 4
24 HIV Integrase Inhibitors Phase 4
25 Raltegravir Potassium Phase 4
26 Atazanavir Sulfate Phase 4
27 Adrenergic alpha-Agonists Phase 4
28 Adrenergic Agents Phase 4
29 Adrenergic Agonists Phase 4
30 Neurotransmitter Agents Phase 4
31 Testosterone 17 beta-cypionate Phase 4
32 Androgens Phase 4
33 Hypnotics and Sedatives Phase 4
34 Pharmaceutical Solutions Phase 4
35 Analgesics, Non-Narcotic Phase 4
36 Respiratory System Agents Phase 4
37 Hormones Phase 4
38 Hormone Antagonists Phase 4
39 Antineoplastic Agents, Hormonal Phase 4
40 glucocorticoids Phase 4
41 Anti-Inflammatory Agents Phase 4
42 Anti-Arrhythmia Agents Phase 4
43 Analgesics Phase 4
44 Narcotics Phase 4
45 Antitussive Agents Phase 4
46 Analgesics, Opioid Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Progestins Phase 4
49 Anesthetics Phase 4
50 Anti-Infective Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 96)
# 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;Saline
4 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
5 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
6 Effect of Methadone and Hydromorphone on the QT Interval After Anesthesia and Surgery Recruiting NCT03893734 Phase 4 methadone;Hydromorphone
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 Terminated 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 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
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 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
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 A Food Effect and QTc Study of Perifosine in Patients With Advanced Malignancies Completed NCT01224730 Phase 1 perifosine
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 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
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 Completed 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 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Unknown status NCT03544918
30 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
31 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
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 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
36 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
37 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
38 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
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 The Long QT Syndrome in Pregnancy Completed NCT00488254
41 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
42 Linkage Study of Long QT Syndrome In An Amish Kindred Completed NCT00005250
43 Influence of Cortisone on QTc-interval Completed NCT03082339
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 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
47 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
48 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol
49 Does Azithromycin Cause QT Prolongation in Hospitalized Patients With Severe Community Acquired Pneumonia? Completed NCT01553734
50 Fetal and Neonatal Magnetophysiology Completed NCT01903564

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: long qt syndrome

Genetic Tests for Long Qt Syndrome

Genetic tests related to Long Qt Syndrome:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 29

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

40
Heart, Testes, Brain, Lung, Cardiac Myocytes, Skeletal Muscle, Kidney

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 4980)
# Title Authors PMID Year
1
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 54 61 24
11710892 2001
2
Early somatic mosaicism is a rare cause of long-QT syndrome. 61 24
27681629 2016
3
Inherited ion channel diseases: a brief review. 24 61
26842110 2015
4
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 61 24
26132555 2015
5
Genotype- and phenotype-guided management of congenital long QT syndrome. 61 24
24093767 2013
6
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 24 61
23631430 2013
7
Calmodulin mutations associated with recurrent cardiac arrest in infants. 61 24
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. 61 24
23083782 2012
9
Competitive sports participation in athletes with congenital long QT syndrome. 61 24
22820673 2012
10
Long-QT syndrome: from genetics to management. 24 61
22895603 2012
11
Mortality of inherited arrhythmia syndromes: insight into their natural history. 24 61
22373669 2012
12
Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. 24 61
22042885 2011
13
The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. 24 61
21699858 2011
14
QTc behavior during exercise and genetic testing for the long-QT syndrome. 61 24
22083145 2011
15
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. 61 24
21185499 2011
16
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 61 24
21185501 2011
17
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. 61 24
20541041 2010
18
Identification of a Kir3.4 mutation in congenital long QT syndrome. 24 61
20560207 2010
19
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. 24 61
20116193 2010
20
Risk of fatal arrhythmic events in long QT syndrome patients after syncope. 24 61
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. 24 61
19716085 2009
22
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. 24 61
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". 61 24
19118258 2009
24
Long QT Syndrome. 24 61
18835466 2008
25
Risk of death in the long QT syndrome when a sibling has died. 24 61
18534367 2008
26
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 61 24
18093912 2007
27
Long QT syndrome and pregnancy. 61 24
17349890 2007
28
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 61 24
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. 61 24
17242276 2007
30
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. 61 24
17210839 2007
31
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 24 61
17060380 2006
32
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study. 61 24
16012827 2006
33
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. 61 24
16534005 2006
34
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 61 24
15840476 2005
35
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. 24 61
15367556 2004
36
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. 61 24
15851169 2004
37
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. 24 61
15051644 2004
38
Compound mutations: a common cause of severe long-QT syndrome. 24 61
15051636 2004
39
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. 24 61
14521668 2003
40
Risk stratification in the long-QT syndrome. 61 24
12736279 2003
41
Implantable cardioverter defibrillator in high-risk long QT syndrome patients. 61 24
12741701 2003
42
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 61 24
12566525 2003
43
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 61 24
12571597 2003
44
Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. 24 61
12004990 2002
45
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 61 24
11136691 2001
46
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 61 24
11104743 2000
47
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. 61 24
10673253 2000
48
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 24 61
9753711 1998
49
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. 24 61
9631873 1998
50
Rate adaptation of QT intervals during and after exercise in children with congenital long QT syndrome. 24 61
9568456 1998

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 3341) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A5 NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp)SNV association 207859 rs779760381 1:9099936-9099936 1:9039877-9039877
2 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)SNV Conflicting interpretations of pathogenicity, other, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
3 KCNQ1 NM_181798.1(KCNQ1):c.1352-1G>CSNV Pathogenic 207970 rs878854348 11:2799205-2799205 11:2777975-2777975
4 KCNH2 NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)duplication Pathogenic 216047 rs863224478 7:150655561-150655562 7:150958473-150958474
5 KCNH2 NM_172057.2(KCNH2):c.2074del (p.Arg692fs)deletion Pathogenic 219924 rs864622309 7:150644474-150644474 7:150947386-150947386
6 KCNH2 NM_172057.2(KCNH2):c.2040del (p.Ser681fs)deletion Pathogenic 219597 rs864622174 7:150644508-150644508 7:150947420-150947420
7 KCNH2 NM_172057.2(KCNH2):c.1567C>T (p.Arg523Ter)SNV Pathogenic 220208 rs773724817 7:150645949-150645949 7:150948861-150948861
8 KCNQ1 NM_000218.2(KCNQ1):c.1A>T (p.Met1Leu)SNV Pathogenic 220309 rs199473441 11:2466329-2466329 11:2445099-2445099
9 KCNH2 NM_172057.2(KCNH2):c.1760G>A (p.Trp587Ter)SNV Pathogenic 200499 rs794728399 7:150644879-150644879 7:150947791-150947791
10 RYR2 NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)SNV Pathogenic 201215 rs794728721 1:237608789-237608789 1:237445489-237445489
11 KCNH2 NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)deletion Pathogenic 200801 rs794728469 7:150644461-150644461 7:150947373-150947373
12 KCNH2 NM_172057.2(KCNH2):c.2087dup (p.Asp697fs)duplication Pathogenic 200803 rs794728469 7:150644460-150644461 7:150947372-150947373
13 KCNH2 NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)deletion Pathogenic 200701 rs794728468 7:150644465-150644465 7:150947377-150947377
14 KCNH2 NM_172057.2(KCNH2):c.2020C>T (p.Arg674Ter)SNV Pathogenic 200518 rs794728403 7:150644528-150644528 7:150947440-150947440
15 KCNH2 NM_172057.2(KCNH2):c.1997del (p.Gly666fs)deletion Pathogenic 200799 rs794728504 7:150644551-150644551 7:150947463-150947463
16 KCNH2 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)SNV Pathogenic 200513 rs794728401 7:150644566-150644566 7:150947478-150947478
17 KCNH2 NM_172057.2(KCNH2):c.2085_2092dup (p.Val698fs)duplication Pathogenic 200705 rs794728470 7:150644455-150644456 7:150947367-150947368
18 KCNH2 NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs)deletion Pathogenic 200693 rs748706373 7:150644699-150644700 7:150947611-150947612
19 KCNH2 NM_172057.2(KCNH2):c.1757del (p.Pro586fs)deletion Pathogenic 200674 rs794728456 7:150644882-150644882 7:150947794-150947794
20 KCNH2 NM_172057.2(KCNH2):c.1755dup (p.Pro586fs)duplication Pathogenic 200672 rs794728455 7:150644883-150644884 7:150947795-150947796
21 KCNH2 NM_172057.2(KCNH2):c.1872dup (p.Gly625fs)duplication Pathogenic 200686 rs794728462 7:150644766-150644767 7:150947678-150947679
22 KCNH2 NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile)SNV Pathogenic 200446 rs1554425149 7:150647251-150647251 7:150950163-150950163
23 KCNH2 NM_172056.2(KCNH2):c.1945+6T>CSNV Pathogenic 200400 rs794728380 7:150648530-150648530 7:150951442-150951442
24 KCNH2 NM_172056.2(KCNH2):c.1096C>T (p.Arg366Ter)SNV Pathogenic 200321 rs794728364 7:150654411-150654411 7:150957323-150957323
25 KCNH2 NM_172056.2(KCNH2):c.735_754dup (p.Arg252fs)duplication Pathogenic 200612 rs794728425 7:150655308-150655309 7:150958220-150958221
26 KCNH2 NM_172056.2(KCNH2):c.154del (p.Cys52fs)deletion Pathogenic 200809 rs794728508 7:150671952-150671952 7:150974864-150974864
27 KCNH2 NM_172056.2(KCNH2):c.81dup (p.Lys28Ter)duplication Pathogenic 200715 rs794728475 7:150672024-150672025 7:150974936-150974937
28 KCNQ1 NM_181798.1(KCNQ1):c.96+1G>ASNV Pathogenic 200874 rs762814879 11:2549249-2549249 11:2528019-2528019
29 KCNQ1 NM_181798.1(KCNQ1):c.700C>T (p.Gln234Ter)SNV Pathogenic 200901 rs794728571 11:2606490-2606490 11:2585260-2585260
30 KCNQ1 NM_181798.1(KCNQ1):c.1002T>A (p.Tyr334Ter)SNV Pathogenic 200843 rs794728527 11:2610074-2610074 11:2588844-2588844
31 KCNQ1 NM_181798.1(KCNQ1):c.1065del (p.Asn356fs)deletion Pathogenic 200884 rs794728558 11:2683242-2683242 11:2662012-2662012
32 KCNQ1 NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)SNV Pathogenic 200858 rs794728537 11:2799253-2799253 11:2778023-2778023
33 CACNA1C NM_000719.7(CACNA1C):c.1114-316G>ASNV Pathogenic 155775 rs587782933 12:2613692-2613692 12:2504526-2504526
34 KCNH2 NM_172056.2(KCNH2):c.2230C>T (p.Arg744Ter)SNV Pathogenic 180383 rs189014161 7:150647424-150647424 7:150950336-150950336
35 KCNH2 NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter)SNV Pathogenic 180379 rs730880116 7:150655378-150655378 7:150958290-150958290
36 KCNH2 NM_172057.2(KCNH2):c.1880dup (p.Pro628fs)duplication Pathogenic 188144 rs786204101 7:150644758-150644759 7:150947670-150947671
37 CACNA1C NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)SNV Pathogenic 190642 rs786205748 12:2675631-2675631 12:2566465-2566465
38 CACNA1C NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)SNV Pathogenic 190653 rs786205753 12:2702421-2702421 12:2593255-2593255
39 KCNH2 NM_172056.2(KCNH2):c.1479C>A (p.Tyr493Ter)SNV Pathogenic 237291 rs878853771 7:150649591-150649591 7:150952503-150952503
40 KCNQ1 NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter)SNV Pathogenic 265209 rs139042529 11:2591893-2591893 11:2570663-2570663
41 CAV3 NM_001234.5(CAV3):c.10_17del (p.Glu4fs)deletion Pathogenic 290919 rs778914298 3:8775569-8775576 3:8733883-8733890
42 KCNH2 NM_172056.2(KCNH2):c.545C>A (p.Ser182Ter)SNV Pathogenic 372376 rs1057517742 7:150655518-150655518 7:150958430-150958430
43 KCNH2 NM_172057.2(KCNH2):c.2007C>G (p.Tyr669Ter)SNV Pathogenic 379293 rs1057520558 7:150644541-150644541 7:150947453-150947453
44 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)SNV Pathogenic 17632 rs79891110 12:2614110-2614110 12:2504944-2504944
45 KCNH2 NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val)SNV Pathogenic 29777 rs199472944 7:150648640-150648640 7:150951552-150951552
46 KCNQ1 NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)SNV Pathogenic 37255 rs151344631 11:2592563-2592563 11:2571333-2571333
47 KCNQ1 NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del)short repeat Pathogenic 52930 rs397508068 11:2604757-2604759 11:2583527-2583529
48 KCNQ1 NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg)SNV Pathogenic 52940 rs199473471 11:2606442-2606442 11:2585212-2585212
49 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter)SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
50 KCNQ1 NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter)SNV Pathogenic 52950 rs397508075 11:2606484-2606484 11:2585254-2585254

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 top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 SCN5A SCN4B SCN1B RYR2 CALM3 CALM2
2
Show member pathways
13.49 SCN5A SCN4B SCN1B CALM3 CALM2 CALM1
3
Show member pathways
13.1 RYR2 CALM3 CALM2 CALM1 CACNA1C AKAP9
4
Show member pathways
13.02 SCN5A SCN4B SCN1B KCNJ5 CALM3 CALM2
5
Show member pathways
12.99 KCNQ1 KCNJ5 KCNJ2 KCNH2 CALM3 CALM2
6
Show member pathways
12.93 RYR2 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
7
Show member pathways
12.73 RYR2 NOS1AP KCNQ1 KCNJ5 KCNJ2 CALM3
8
Show member pathways
12.69 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
9
Show member pathways
12.66 SNTA1 RYR2 CALM3 CALM2 CALM1 CACNA1C
10
Show member pathways
12.53 CALM3 CALM2 CALM1 CACNA1C
11
Show member pathways
12.53 RYR2 CALM3 CALM2 CALM1
12
Show member pathways
12.52 RYR2 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
13
Show member pathways
12.52 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNE1
14
Show member pathways
12.44 RYR2 KCNJ5 KCNJ2 CALM3 CALM2 CALM1
15 12.34 RYR2 CALM3 CALM2 CALM1 CACNA1C
16
Show member pathways
12.33 CALM3 CALM2 CALM1 CACNA1C
17
Show member pathways
12.27 RYR2 CALM3 CALM2 CALM1 CACNA1C
18
Show member pathways
12.25 CALM3 CALM2 CALM1 AKAP9
19 12.25 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
20
Show member pathways
12.25 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
21
Show member pathways
12.18 KCNQ1 KCNJ2 KCNE2 CALM3 CALM2 CALM1
22 12.18 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
23 12.16 CALM3 CALM2 CALM1 CACNA1C
24
Show member pathways
12.16 KCNQ1 KCNJ5 KCNJ2 KCNH2
25 12.12 CAV3 CALM3 CALM2 CALM1
26 12.11 RYR2 CALM3 CALM2 CALM1
27
Show member pathways
12.06 SCN5A SCN4B SCN1B ANK2
28
Show member pathways
12.04 CALM3 CALM2 CALM1
29
Show member pathways
12.03 CALM3 CALM2 CALM1 CACNA1C
30
Show member pathways
12.02 CALM3 CALM2 CALM1 CACNA1C
31
Show member pathways
11.97 CALM3 CALM2 CALM1
32
Show member pathways
11.97 CALM3 CALM2 CALM1 CACNA1C
33 11.93 CALM3 CALM2 CALM1
34
Show member pathways
11.93 CALM3 CALM2 CALM1
35 11.91 CALM3 CALM2 CALM1
36
Show member pathways
11.89 CALM3 CALM2 CALM1
37
Show member pathways
11.87 CALM3 CALM2 CALM1
38
Show member pathways
11.87 SCN5A SCN4B SCN1B KCNQ1 KCNE2 KCNE1
39
Show member pathways
11.86 CALM3 CALM2 CALM1
40
Show member pathways
11.86 CALM3 CALM2 CALM1
41
Show member pathways
11.79 CALM3 CALM2 CALM1
42
Show member pathways
11.79 CALM3 CALM2 CALM1
43 11.77 CALM3 CALM2 CALM1
44
Show member pathways
11.77 CALM3 CALM2 CALM1
45 11.75 CALM3 CALM2 CALM1
46
Show member pathways
11.71 CALM3 CALM2 CALM1
47 11.69 KCNJ2 CALM3 CALM2 CALM1 CACNA1C
48 11.67 CALM3 CALM2 CALM1
49
Show member pathways
11.66 CALM3 CALM2 CALM1
50 11.57 CALM3 CALM2 CALM1

GO Terms for Long Qt Syndrome

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.3 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
2 cell GO:0005623 10.1 RYR2 KCNJ2 CAV3 CALM3 CALM2 CALM1
3 protein-containing complex GO:0032991 10.03 SNTA1 RYR2 CAV3 CALM3 CALM2 CALM1
4 membrane raft GO:0045121 9.88 KCNQ1 KCNE1 CAV3 ANK2
5 Z disc GO:0030018 9.87 SCN5A RYR2 NOS1AP KCNE1 CAV3 CACNA1C
6 vesicle GO:0031982 9.85 CAV3 CALM3 CALM2 CALM1
7 sarcomere GO:0030017 9.8 RYR2 MYBPC3 CALM3 CALM2 CALM1
8 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 NOS1AP CAV3 CACNA1C
9 caveola GO:0005901 9.74 SCN5A NOS1AP CAV3
10 calcium channel complex GO:0034704 9.73 RYR2 CALM3 CALM2 CALM1
11 spindle microtubule GO:0005876 9.71 CALM3 CALM2 CALM1
12 myelin sheath GO:0043209 9.69 CALM3 CALM2 CALM1
13 voltage-gated sodium channel complex GO:0001518 9.65 SCN5A SCN4B SCN1B
14 catalytic complex GO:1902494 9.63 CALM3 CALM2 CALM1
15 intercalated disc GO:0014704 9.63 SCN5A SCN4B SCN1B KCNJ2 CAV3 ANK2
16 dystrophin-associated glycoprotein complex GO:0016010 9.6 SNTA1 CAV3
17 A band GO:0031672 9.59 MYBPC3 ANK2
18 L-type voltage-gated calcium channel complex GO:1990454 9.58 NOS1AP CACNA1C
19 T-tubule GO:0030315 9.56 SCN5A SCN1B NOS1AP KCNJ5 KCNJ2 CAV3
20 inward rectifier potassium channel complex GO:1902937 9.52 NOS1AP KCNH2
21 voltage-gated potassium channel complex GO:0008076 9.32 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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 ion transport GO:0006811 10.29 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
2 potassium ion transport GO:0006813 10.08 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
3 potassium ion transmembrane transport GO:0071805 10.04 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 G2/M transition of mitotic cell cycle GO:0000086 10.01 CALM3 CALM2 CALM1 AKAP9
5 cardiac muscle contraction GO:0060048 9.98 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
6 calcium-mediated signaling GO:0019722 9.97 RYR2 CALM3 CALM2 CALM1
7 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A RYR2 CAV3 CALM3 CALM2
8 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.96 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.95 RYR2 CALM3 CALM2 CALM1 CACNA1C ANK2
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 SCN5A SCN4B SCN1B KCNJ2 KCNE2 KCNE1
12 muscle contraction GO:0006936 9.94 SNTA1 CAV3 CALM1
13 potassium ion import across plasma membrane GO:1990573 9.93 KCNJ5 KCNJ2 KCNH2 KCNE2
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.93 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
15 regulation of cardiac muscle contraction GO:0055117 9.93 RYR2 CAV3 CALM3 CALM2 CALM1 ANK2
16 sodium ion transmembrane transport GO:0035725 9.92 SCN5A SCN4B SCN1B
17 cellular response to drug GO:0035690 9.92 KCNQ1 KCNH2 KCNE2
18 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.92 SCN5A SCN4B SCN1B KCNJ2 CACNA1C
19 response to calcium ion GO:0051592 9.91 CALM3 CALM2 CALM1
20 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
21 cardiac conduction GO:0061337 9.91 SCN5A SCN1B KCNQ1 KCNJ2 KCNH2 KCNE2
22 positive regulation of protein serine/threonine kinase activity GO:0071902 9.9 CALM3 CALM2 CALM1
23 cellular response to cAMP GO:0071320 9.9 KCNQ1 KCNE1 AKAP9
24 substantia nigra development GO:0021762 9.89 CALM3 CALM2 CALM1
25 regulation of cytokinesis GO:0032465 9.89 CALM3 CALM2 CALM1
26 potassium ion export across plasma membrane GO:0097623 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
27 membrane repolarization during action potential GO:0086011 9.89 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
28 detection of calcium ion GO:0005513 9.88 RYR2 CALM3 CALM2 CALM1
29 membrane repolarization GO:0086009 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
30 positive regulation of DNA binding GO:0043388 9.87 CALM3 CALM2 CALM1
31 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM3 CALM2 CALM1
32 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
33 positive regulation of protein dephosphorylation GO:0035307 9.86 CALM3 CALM2 CALM1
34 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM3 CALM2 CALM1
35 positive regulation of nitric-oxide synthase activity GO:0051000 9.85 NOS1AP CALM3 CALM1
36 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM3 CALM2 CALM1
37 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.85 CALM3 CALM2 CALM1
38 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
39 regulation of sodium ion transmembrane transporter activity GO:2000649 9.84 SCN4B SCN1B CAV3
40 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
41 positive regulation of sodium ion transport GO:0010765 9.83 SCN5A SCN4B SCN1B
42 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM3 CALM2 CALM1
43 regulation of cardiac muscle cell contraction GO:0086004 9.82 SCN5A KCNJ2 ANK2
44 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.82 CALM3 CALM2 CALM1
45 atrial cardiac muscle cell action potential GO:0086014 9.81 SCN5A KCNQ1 ANK2
46 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM3 CALM2 CALM1
47 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.79 CALM3 CALM2 CALM1
48 regulation of high voltage-gated calcium channel activity GO:1901841 9.79 NOS1AP CALM3 CALM1
49 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.78 CALM3 CALM2 CALM1
50 response to corticosterone GO:0051412 9.76 CALM3 CALM1

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 binding GO:0005515 10.61 SNTA1 SCN5A SCN1B RYR2 NOS1AP MYBPC3
2 protein kinase binding GO:0019901 10.08 SCN5A RYR2 CALM3 CALM2 CALM1 ANK2
3 protein domain specific binding GO:0019904 9.97 SCN5A CALM3 CALM2 CALM1
4 calmodulin binding GO:0005516 9.97 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
5 ion channel activity GO:0005216 9.96 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
6 potassium channel activity GO:0005267 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
7 voltage-gated potassium channel activity GO:0005249 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
8 scaffold protein binding GO:0097110 9.82 SCN5A KCNQ1 KCNH2
9 potassium channel regulator activity GO:0015459 9.82 KCNE2 KCNE1 AKAP9
10 sodium channel regulator activity GO:0017080 9.81 SNTA1 SCN4B SCN1B CAV3
11 disordered domain specific binding GO:0097718 9.8 CALM3 CALM2 CALM1
12 protein serine/threonine kinase activator activity GO:0043539 9.8 CALM3 CALM2 CALM1
13 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
14 sodium channel activity GO:0005272 9.79 SCN5A SCN4B SCN1B
15 enzyme regulator activity GO:0030234 9.79 CALM3 CALM2 CALM1
16 protein kinase A regulatory subunit binding GO:0034237 9.77 RYR2 KCNQ1 AKAP9
17 voltage-gated sodium channel activity GO:0005248 9.76 SCN5A SCN4B SCN1B
18 adenylate cyclase binding GO:0008179 9.71 CALM3 CALM2 CALM1
19 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ5 KCNJ2 KCNH2 KCNE2
20 protein phosphatase activator activity GO:0072542 9.7 CALM3 CALM2 CALM1
21 titin binding GO:0031432 9.67 MYBPC3 CALM3 CALM2 CALM1
22 protein kinase A catalytic subunit binding GO:0034236 9.66 RYR2 KCNQ1
23 calcium channel inhibitor activity GO:0019855 9.66 CALM2 CALM1
24 nitric-oxide synthase regulator activity GO:0030235 9.65 CALM3 CALM1
25 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.65 SCN5A SCN4B SCN1B
26 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
27 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
28 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.64 KCNQ1 KCNJ5
29 type 3 metabotropic glutamate receptor binding GO:0031800 9.63 CALM3 CALM1
30 adenylate cyclase activator activity GO:0010856 9.63 CALM3 CALM2 CALM1
31 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A NOS1AP CAV3 CALM3 CALM1
32 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
33 N-terminal myristoylation domain binding GO:0031997 9.61 CALM3 CALM2 CALM1
34 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.6 SCN5A SCN1B
35 ion channel binding GO:0044325 9.47 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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