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LQT
MCID: LNG028
MIFTS: 65

Long Qt Syndrome (LQT)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Long Qt Syndrome

About this section

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 43 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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:2843
KEGG 36 H00720
ICD9CM 34 426.82
SNOMED-CT 67 20852007 9651007
ICD10 32 I45.81
UMLS 71 C0023976 C0035828
Sources

Summaries for Long Qt Syndrome

About this section
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 6, 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 : 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 which affects repolarization of the heart after a heartbeat. It... more...

GeneReviews: NBK1129
Sources

Related Diseases for Long Qt Syndrome

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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 284)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 35.6 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
2 long qt syndrome 6 35.6 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
3 long qt syndrome 9 35.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
4 long qt syndrome 5 35.5 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
5 long qt syndrome 12 35.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
6 long qt syndrome 3 35.5 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
7 long qt syndrome 13 35.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
8 long qt syndrome 11 35.5 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
9 long qt syndrome 1 35.5 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
10 long qt syndrome 10 35.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
11 long qt syndrome 14 35.4 SCN1B KCNE1 CALM3 CALM1 ANK2
12 long qt syndrome 15 35.4 SCN1B KCNE1 CALM3 CALM2 CALM1
13 familial long qt syndrome 35.2 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
14 timothy syndrome 34.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
15 andersen cardiodysrhythmic periodic paralysis 34.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ5
16 jervell and lange-nielsen syndrome 1 34.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
17 syncope 32.8 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
18 ventricular tachycardia, catecholaminergic polymorphic, 3 32.7 RYR2 KCNJ2
19 cardiac conduction defect 32.7 SCN5A SCN1B RYR2 MYBPC3 KCNQ1 KCNH2
20 cardiac arrest 32.5 SCN5A RYR2 NOS1AP MYBPC3 KCNQ1 KCNH2
21 ventricular fibrillation, paroxysmal familial, 1 32.5 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
22 atrioventricular block 32.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
23 cardiac arrhythmia 32.2 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
24 brugada syndrome 32.0 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
25 sudden infant death syndrome 31.9 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2
26 atrial standstill 1 31.9 SCN5A SCN1B RYR2 MYBPC3 CAV3
27 hypokalemia 31.8 KCNQ1 KCNJ5 KCNH2
28 catecholaminergic polymorphic ventricular tachycardia 31.8 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
29 sick sinus syndrome 31.7 SNTA1 SCN5A SCN1B KCNJ2 CACNA1C ANK2
30 hypertrophic cardiomyopathy 31.7 SCN5A RYR2 MYBPC3 CAV3 CACNA1C
31 sinoatrial node disease 31.6 SCN5A SCN1B RYR2 KCNQ1 KCNJ2 KCNH2
32 dilated cardiomyopathy 31.6 SNTA1 SCN5A SCN4B RYR2 MYBPC3 KCNQ1
33 short qt syndrome 31.6 SNTA1 SCN5A SCN4B SCN1B RYR2 NOS1AP
34 arrhythmogenic right ventricular cardiomyopathy 31.6 SCN5A RYR2 KCNH2 KCNE1 CACNA1C ANK2
35 atrial fibrillation 31.5 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
36 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.5 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CALM1
37 progressive familial heart block, type ia 31.5 SCN5A MYBPC3 ANK2
38 familial short qt syndrome 31.4 KCNQ1 KCNJ2 KCNH2
39 left ventricular noncompaction 31.4 SNTA1 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ2
40 heart disease 31.4 SCN5A RYR2 MYBPC3 KCNQ1 KCNJ5 KCNJ2
41 right bundle branch block 31.3 SCN5A SCN1B KCNH2 CACNA1C
42 brugada syndrome 1 31.3 SCN5A RYR2 KCNH2 AKAP9
43 familial atrial fibrillation 31.2 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
44 congestive heart failure 31.2 SCN5A RYR2 KCNQ1 KCNJ2 KCNE2 CACNA1C
45 coronary artery anomaly 31.0 SCN5A RYR2 KCNJ5 KCNH2
46 left bundle branch hemiblock 30.9 SCN5A RYR2 MYBPC3
47 brugada syndrome 4 30.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
48 malignant hyperthermia 30.7 SCN5A RYR2 CAV3 CACNA1C
49 rare cardiomyopathy 30.5 SCN1B RYR2 MYBPC3
50 brugada syndrome 9 30.4 SCN5A MYBPC3

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



Diseases related to Long Qt Syndrome
Sources

Symptoms & Phenotypes for Long Qt Syndrome

About this section

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 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
Sources

Drugs & Therapeutics for Long Qt Syndrome

About this section

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 191)
# 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 Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Testosterone enanthate Approved Phase 4 315-37-7 9416
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
10
Methadone Approved Phase 4 76-99-3 4095
11
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
12
Ibutilide Approved Phase 4 122647-31-8, 122647-32-9 60753
13
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
14
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
15
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
16
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
17
Polyestradiol phosphate Approved Phase 4 28014-46-2
18
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
19
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
20
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
21 Cytochrome P-450 CYP3A Inhibitors Phase 4
22 Cytochrome P-450 Enzyme Inhibitors Phase 4
23 HIV Protease Inhibitors Phase 4
24
protease inhibitors Phase 4
25 Anti-Retroviral Agents Phase 4
26 Antiviral Agents Phase 4
27 Anti-HIV Agents Phase 4
28 Atazanavir Sulfate Phase 4
29 Integrase Inhibitors Phase 4
30 HIV Integrase Inhibitors Phase 4
31 Raltegravir Potassium Phase 4
32 Adrenergic Agonists Phase 4
33 Anabolic Agents Phase 4
34 Testosterone 17 beta-cypionate Phase 4
35 Androgens Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Hypnotics and Sedatives Phase 4
38 Adrenergic alpha-2 Receptor Agonists Phase 4
39 Pharmaceutical Solutions Phase 4
40 Neurotransmitter Agents Phase 4
41 Respiratory System Agents Phase 4
42 Autonomic Agents Phase 4
43 Adrenergic Agents Phase 4
44 Adrenergic Antagonists Phase 4
45 Adrenergic beta-Antagonists Phase 4
46 Hormone Antagonists Phase 4
47 Diuretics, Potassium Sparing Phase 4
48 Hormones Phase 4
49 Sodium Channel Blockers Phase 4
50 Anti-Inflammatory Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 93)
# 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 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
8 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
9 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
10 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
11 ECG Device for Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
12 Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
13 Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
14 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
15 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
16 A Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Subjects Completed NCT02365532 Phase 1 GS-6615;Placebo to match GS-6615;Placebo to match dofetilide;Dofetilide
17 A Phase 1, Open-Label, Parallel-Group, Adaptive, Single Dose Study to Evaluate the Pharmacokinetics of GS-6615 in Subjects With Normal and Impaired Hepatic Function Completed NCT02412098 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 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
20 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
21 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
22 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
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 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)
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 Completed NCT03673085 Phase 1 CN128
28 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
29 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
30 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
31 Metabolism of Patients With Genetically Caused Cardiac Arrhythmia Unknown status NCT02775513
32 Influence of Cortisone on QTc-interval Unknown status NCT03082339
33 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
34 Hydroxyzine and Risk of Prolongation of QT Interval Unknown status NCT02814981
35 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
36 The Influence of Iatrogenic Chronotropic Incompetence on Exercise Tolerance in Pacemaker Patients With Chronic Heart Failure. Unknown status NCT02247245 Ivabradine
37 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
38 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Completed NCT01705925
39 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone
40 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
41 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
42 The Long QT Syndrome in Pregnancy Completed NCT00488254
43 Linkage Study of Long QT Syndrome In An Amish Kindred Completed NCT00005250
44 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
45 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
46 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
47 Does Azithromycin Cause QT Prolongation in Hospitalized Patients With Severe Community Acquired Pneumonia? Completed NCT01553734
48 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
49 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
50 Drug Interactions With Risk of QT-prolongation in a General Hospital: an Epidemiological Point Prevalence Study Completed NCT02043912 Haloperidol

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: romano-ward syndrome

Sources

Genetic Tests for Long Qt Syndrome

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Genetic tests related to Long Qt Syndrome:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 29
Sources

Anatomical Context for Long Qt Syndrome

About this section

MalaCards organs/tissues related to Long Qt Syndrome:

40
Heart, Testes, Brain, Kidney, Pituitary, Skeletal Muscle, Lung
Sources

Publications for Long Qt Syndrome

About this section

Articles related to Long Qt Syndrome:

(show top 50) (show all 4879)
# 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. 61 24
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. 61 24
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
Long-QT syndrome: from genetics to management. 61 24
22895603 2012
10
Competitive sports participation in athletes with congenital long QT syndrome. 61 24
22820673 2012
11
Mortality of inherited arrhythmia syndromes: insight into their natural history. 61 24
22373669 2012
12
QTc behavior during exercise and genetic testing for the long-QT syndrome. 61 24
22083145 2011
13
The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. 61 24
21699858 2011
14
Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. 61 24
22042885 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. 61 24
20560207 2010
19
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. 61 24
20116193 2010
20
Risk of fatal arrhythmic events in long QT syndrome patients after syncope. 61 24
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. 61 24
19716085 2009
22
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. 61 24
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. 61 24
18835466 2008
25
Risk of death in the long QT syndrome when a sibling has died. 61 24
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. 61 24
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. 61 24
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. 61 24
15051644 2004
38
Compound mutations: a common cause of severe long-QT syndrome. 61 24
15051636 2004
39
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. 61 24
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. 61 24
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. 61 24
9753711 1998
49
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. 61 24
9631873 1998
50
Rate adaptation of QT intervals during and after exercise in children with congenital long QT syndrome. 61 24
9568456 1998
Sources

Variations for Long Qt Syndrome

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ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 2537) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 KCNH2 NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val)SNV Pathogenic 29777 rs199472944 7:150648640-150648640 7:150951552-150951552
4 RYR2 NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)SNV Pathogenic 12959 rs121918602 1:237617696-237617696 1:237454396-237454396
5 CACNA1C NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)SNV Pathogenic 17632 rs79891110 12:2614110-2614110 12:2504944-2504944
6 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)SNV Pathogenic 8283 rs116840778 3:8775642-8775642 3:8733956-8733956
7 KCNH2 NM_172057.2(KCNH2):c.1444G>A (p.Val482Met)SNV Pathogenic 14424 rs121912506 7:150646072-150646072 7:150948984-150948984
8 KCNH2 NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser)SNV Pathogenic 14427 rs121912507 7:150648599-150648599 7:150951511-150951511
9 KCNH2 NM_172056.2(KCNH2):c.1744C>T (p.Arg582Cys)SNV Pathogenic 14428 rs121912508 7:150648737-150648737 7:150951649-150951649
10 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr)SNV Pathogenic 14430 rs28928905 7:150649602-150649602 7:150952514-150952514
11 KCNQ1 NM_181798.1(KCNQ1):c.232G>A (p.Val78Met)SNV Pathogenic 37255 rs151344631 11:2592563-2592563 11:2571333-2571333
12 KCNQ1 NM_181798.1(KCNQ1):c.652G>C (p.Gly218Arg)SNV Pathogenic 52940 rs199473471 11:2606442-2606442 11:2585212-2585212
13 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter)SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
14 KCNQ1 NM_181798.1(KCNQ1):c.694C>T (p.Gln232Ter)SNV Pathogenic 52950 rs397508075 11:2606484-2606484 11:2585254-2585254
15 KCNQ1 NM_181798.1(KCNQ1):c.633_635CTT[1] (p.Phe213del)short repeat Pathogenic 52930 rs397508068 11:2604757-2604759 11:2583527-2583529
16 KCNQ1 NM_181798.1(KCNQ1):c.132C>G (p.Tyr44Ter)SNV Pathogenic 53056 rs139042529 11:2591893-2591893 11:2570663-2570663
17 KCNQ1 NM_181798.1(KCNQ1):c.962dup (p.Glu322fs)duplication Pathogenic 52978 rs397508087 11:2610028-2610029 11:2588798-2588799
18 KCNQ1 NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter)SNV Pathogenic 52989 rs397508096 11:2466481-2466481 11:2445251-2445251
19 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
20 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp)SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
21 KCNQ1 NM_181798.1(KCNQ1):c.1512del (p.Arg505fs)deletion Pathogenic 53026 rs397508104 11:2869089-2869089 11:2847859-2847859
22 KCNQ1 NM_181798.1(KCNQ1):c.96+5G>ASNV Pathogenic 53047 rs397508111 11:2549253-2549253 11:2528023-2528023
23 KCNQ1 NM_181798.1(KCNQ1):c.121G>A (p.Gly41Arg)SNV Pathogenic 53052 rs179489 11:2591882-2591882 11:2570652-2570652
24 KCNQ1 NM_181798.1(KCNQ1):c.121G>C (p.Gly41Arg)SNV Pathogenic 53053 rs179489 11:2591882-2591882 11:2570652-2570652
25 KCNQ1 NM_181798.1(KCNQ1):c.139C>T (p.Arg47Cys)SNV Pathogenic 53058 rs199472696 11:2591900-2591900 11:2570670-2570670
26 KCNQ1 NM_181798.1(KCNQ1):c.186dup (p.Arg63fs)duplication Pathogenic 53069 rs397508117 11:2591942-2591943 11:2570712-2570713
27 KCNQ1 NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs)deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
28 KCNQ1 NM_181798.1(KCNQ1):c.1352-1G>CSNV Pathogenic 207970 rs878854348 11:2799205-2799205 11:2777975-2777975
29 KCNH2 NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)duplication Pathogenic 216047 rs863224478 7:150655561-150655562 7:150958473-150958474
30 KCNH2 NM_172057.2(KCNH2):c.2074del (p.Arg692fs)deletion Pathogenic 219924 rs864622309 7:150644474-150644474 7:150947386-150947386
31 KCNH2 NM_172057.2(KCNH2):c.2040del (p.Ser681fs)deletion Pathogenic 219597 rs864622174 7:150644508-150644508 7:150947420-150947420
32 KCNH2 NM_172057.2(KCNH2):c.1567C>T (p.Arg523Ter)SNV Pathogenic 220208 rs773724817 7:150645949-150645949 7:150948861-150948861
33 KCNQ1 NM_000218.2(KCNQ1):c.1A>T (p.Met1Leu)SNV Pathogenic 220309 rs199473441 11:2466329-2466329 11:2445099-2445099
34 KCNQ1 NM_181798.1(KCNQ1):c.188G>A (p.Arg63Gln)SNV Pathogenic 3117 rs120074178 11:2591949-2591949 11:2570719-2570719
35 KCNQ1 NM_181798.1(KCNQ1):c.379G>A (p.Val127Met)SNV Pathogenic 3118 rs120074179 11:2593319-2593319 11:2572089-2572089
36 KCNQ1 NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu)SNV Pathogenic 3120 rs12720459 11:2604765-2604765 11:2583535-2583535
37 KCNQ1 NM_181798.1(KCNQ1):c.641C>T (p.Ala214Val)SNV Pathogenic 3121 rs12720459 11:2604765-2604765 11:2583535-2583535
38 KCNQ1 NM_181798.1(KCNQ1):c.559G>A (p.Gly187Ser)SNV Pathogenic 3123 rs120074184 11:2604683-2604683 11:2583453-2583453
39 KCNQ1 NM_181798.1(KCNQ1):c.1282C>T (p.Arg428Cys)SNV Pathogenic 3126 rs120074185 11:2797262-2797262 11:2776032-2776032
40 KCNQ1 NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter)SNV Pathogenic 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
41 KCNQ1 NM_181798.1(KCNQ1):c.651G>A (p.Ala217=)SNV Pathogenic 3135 rs1800171 11:2604775-2604775 11:2583545-2583545
42 KCNQ1 NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met)SNV Pathogenic 3138 rs120074189 11:2799233-2799233 11:2778003-2778003
43 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp)SNV Pathogenic 3140 rs120074190 11:2799239-2799239 11:2778009-2778009
44 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser)SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
45 KCNQ1 NM_181798.1(KCNQ1):c.425G>A (p.Gly142Asp)SNV Pathogenic 3145 rs120074194 11:2594101-2594101 11:2572871-2572871
46 KCNQ1 NM_181798.1(KCNQ1):c.1065del (p.Asn356fs)deletion Pathogenic 200884 rs794728558 11:2683242-2683242 11:2662012-2662012
47 KCNQ1 NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)SNV Pathogenic 200858 rs794728537 11:2799253-2799253 11:2778023-2778023
48 KCNH2 NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile)SNV Pathogenic 200446 rs1554425149 7:150647251-150647251 7:150950163-150950163
49 KCNH2 NM_172056.2(KCNH2):c.1945+6T>CSNV Pathogenic 200400 rs794728380 7:150648530-150648530 7:150951442-150951442
50 KCNH2 NM_172056.2(KCNH2):c.735_754dup (p.Arg252fs)duplication Pathogenic 200612 rs794728425 7:150655308-150655309 7:150958220-150958221

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
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Expression for Long Qt Syndrome

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

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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 62)
# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.57 SCN5A SCN4B SCN1B RYR2 CALM3 CALM2
2
Developmental Biology 65
Show member pathways
 13.49 SCN5A SCN4B SCN1B CALM3 CALM2 CALM1
3
DAG and IP3 signaling 65
Show member pathways
 13.1 RYR2 CALM3 CALM2 CALM1 CACNA1C AKAP9
4
G-Beta Gamma Signaling 63
Show member pathways
 13.02 SCN5A SCN4B SCN1B KCNJ5 CALM3 CALM2
5
Transmission across Chemical Synapses 65
Show member pathways
 12.99 KCNQ1 KCNJ5 KCNJ2 KCNH2 CALM3 CALM2
6
Aldosterone synthesis and secretion 36
Show member pathways
 12.93 RYR2 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
7
Circadian entrainment 36
Show member pathways
 12.73 RYR2 NOS1AP KCNQ1 KCNJ5 KCNJ2 CALM3
8
Relaxin signaling pathway 36
Show member pathways
 12.68 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
9
DREAM Repression and Dynorphin Expression 63
Show member pathways
 12.66 SNTA1 RYR2 CALM3 CALM2 CALM1 CACNA1C
10
Ion channel transport 65
Show member pathways
 12.53 RYR2 CALM3 CALM2 CALM1
11
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.52 RYR2 KCNJ5 CALM3 CALM2 CALM1 CACNA1C
12
cGMP-PKG signaling pathway 36
Show member pathways
 12.52 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNE1
13
Oxytocin signaling pathway 36
Show member pathways
 12.43 RYR2 KCNJ5 KCNJ2 CALM3 CALM2 CALM1
14
cAMP signaling pathway 36
12.34 RYR2 CALM3 CALM2 CALM1 CACNA1C
15
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.33 CALM3 CALM2 CALM1 CACNA1C
16
Calcium signaling pathway 36
Show member pathways
 12.27 RYR2 CALM3 CALM2 CALM1 CACNA1C
17
Post NMDA receptor activation events 65
Show member pathways
 12.26 CALM3 CALM2 CALM1 AKAP9
18
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.25 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
19
Cardiac conduction 65
Show member pathways
 12.25 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
20
Long-term potentiation 36
Show member pathways
 12.21 CALM3 CALM2 CALM1 CACNA1C
21
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.18 SNTA1 SCN5A SCN4B RYR2 NOS1AP KCNQ1
22
Salivary secretion 36
Show member pathways
 12.17 KCNQ1 KCNJ2 KCNE2 CALM3 CALM2 CALM1
23
Potassium Channels 65
Show member pathways
 12.15 KCNQ1 KCNJ5 KCNJ2 KCNH2
24
Fluid shear stress and atherosclerosis 36
12.12 CAV3 CALM3 CALM2 CALM1
25
Apelin signaling pathway 36
12.11 RYR2 CALM3 CALM2 CALM1
26
L1CAM interactions 65
Show member pathways
 12.05 SCN5A SCN4B SCN1B ANK2
27
Immune response Function of MEF2 in T lymphocytes 22
Show member pathways
 12.04 CALM3 CALM2 CALM1
28
Translation Translation regulation by Alpha-1 adrenergic receptors 22
Show member pathways
 12.03 CALM3 CALM2 CALM1 CACNA1C
29
Amphetamine addiction 36
Show member pathways
 12.02 CALM3 CALM2 CALM1 CACNA1C
30
Glucagon signaling pathway 36
11.93 CALM3 CALM2 CALM1
31
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 65
Show member pathways
 11.93 CALM3 CALM2 CALM1
32
ErbB1 downstream signaling 1
11.91 CALM3 CALM2 CALM1
33
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.89 CALM3 CALM2 CALM1
34
Phase 0 - rapid depolarisation 65
Show member pathways
 11.87 SCN5A SCN4B SCN1B KCNQ1 KCNE2 KCNE1
35
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.86 CALM3 CALM2 CALM1
36
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.86 CALM3 CALM2 CALM1
37
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.85 CALM3 CALM2 CALM1
38
Uptake and actions of bacterial toxins 65
Show member pathways
 11.79 CALM3 CALM2 CALM1
39
Metabolism of nitric oxide 65
Show member pathways
 11.78 CALM3 CALM2 CALM1
40
Pertussis 36
11.77 CALM3 CALM2 CALM1
41
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.77 CALM3 CALM2 CALM1
42
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.75 CALM3 CALM2 CALM1
43
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.7 CALM3 CALM2 CALM1
44
Renin secretion 36
11.69 KCNJ2 CALM3 CALM2 CALM1 CACNA1C
45
Translocation of GLUT4 to the plasma membrane 65
11.67 CALM3 CALM2 CALM1
46
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.66 CALM3 CALM2 CALM1
47
Role of Calcineurin-dependent NFAT signaling in lymphocytes 1
11.57 CALM3 CALM2 CALM1
48
Antiarrhythmic Pathway, Pharmacodynamics 60
11.48 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNJ5
49
Glycogen Metabolism 1
11.39 CALM3 CALM2 CALM1
50
Nur77 Signaling in T-Cell 63
11.38 CALM3 CALM2 CALM1
Sources

GO Terms for Long Qt Syndrome

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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 9.7 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 9.51 NOS1AP KCNH2
21 voltage-gated potassium channel complex GO:0008076 9.28 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show top 50) (show all 81)
# 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 cardiac muscle contraction GO:0060048 9.98 SCN5A SCN4B SCN1B RYR2 MYBPC3 KCNQ1
5 calcium-mediated signaling GO:0019722 9.97 RYR2 CALM3 CALM2 CALM1
6 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A RYR2 CAV3 CALM3 CALM2
7 ventricular cardiac muscle cell action potential GO:0086005 9.97 SNTA1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.96 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.95 RYR2 CALM3 CALM2 CALM1 CACNA1C ANK2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 SCN5A SCN4B SCN1B KCNJ2 KCNE2 KCNE1
11 muscle contraction GO:0006936 9.93 SNTA1 CAV3 CALM1
12 potassium ion import across plasma membrane GO:1990573 9.93 KCNJ5 KCNJ2 KCNH2 KCNE2
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.93 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
14 regulation of cardiac muscle contraction GO:0055117 9.93 RYR2 CAV3 CALM3 CALM2 CALM1 ANK2
15 sodium ion transmembrane transport GO:0035725 9.92 SCN5A SCN4B SCN1B
16 cellular response to drug GO:0035690 9.92 KCNQ1 KCNH2 KCNE2
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.92 SCN5A SCN4B SCN1B KCNJ2 CACNA1C
18 response to calcium ion GO:0051592 9.91 CALM3 CALM2 CALM1
19 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
20 cardiac conduction GO:0061337 9.91 SCN5A SCN1B KCNQ1 KCNJ2 KCNH2 KCNE2
21 cellular response to cAMP GO:0071320 9.9 KCNQ1 KCNE1 AKAP9
22 positive regulation of protein serine/threonine kinase activity GO:0071902 9.9 CALM3 CALM2 CALM1
23 substantia nigra development GO:0021762 9.89 CALM3 CALM2 CALM1
24 potassium ion export across plasma membrane GO:0097623 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
25 membrane repolarization during action potential GO:0086011 9.89 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
26 regulation of cytokinesis GO:0032465 9.88 CALM3 CALM2 CALM1
27 detection of calcium ion GO:0005513 9.88 RYR2 CALM3 CALM2 CALM1
28 membrane repolarization GO:0086009 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
29 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM3 CALM2 CALM1
30 positive regulation of protein dephosphorylation GO:0035307 9.87 CALM3 CALM2 CALM1
31 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
32 positive regulation of nitric-oxide synthase activity GO:0051000 9.86 NOS1AP CALM3 CALM1
33 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM3 CALM2 CALM1
34 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM3 CALM2 CALM1
35 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.85 CALM3 CALM2 CALM1
36 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
37 regulation of sodium ion transmembrane transporter activity GO:2000649 9.84 SCN4B SCN1B CAV3
38 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNH2 KCNE2 KCNE1
39 positive regulation of sodium ion transport GO:0010765 9.83 SCN5A SCN4B SCN1B
40 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM3 CALM2 CALM1
41 regulation of cardiac muscle cell contraction GO:0086004 9.83 SCN5A KCNJ2 ANK2
42 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.82 CALM3 CALM2 CALM1
43 atrial cardiac muscle cell action potential GO:0086014 9.81 SCN5A KCNQ1 ANK2
44 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM3 CALM2 CALM1
45 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.8 CALM3 CALM2 CALM1
46 regulation of high voltage-gated calcium channel activity GO:1901841 9.79 NOS1AP CALM3 CALM1
47 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.79 CALM3 CALM2 CALM1
48 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.78 CALM3 CALM2 CALM1
49 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.76 CALM3 CALM1
50 membrane depolarization during action potential GO:0086010 9.76 SCN5A KCNH2

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.6 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 9.96 SCN5A CALM3 CALM2 CALM1
4 calmodulin binding GO:0005516 9.96 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
5 ion channel activity GO:0005216 9.92 SCN5A RYR2 KCNH2 CACNA1C
6 potassium channel activity GO:0005267 9.87 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 9.81 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 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
13 protein serine/threonine kinase activator activity GO:0043539 9.79 CALM3 CALM2 CALM1
14 sodium channel activity GO:0005272 9.79 SCN5A SCN4B SCN1B
15 voltage-gated sodium channel activity GO:0005248 9.76 SCN5A SCN4B SCN1B
16 protein kinase A regulatory subunit binding GO:0034237 9.75 RYR2 KCNQ1 AKAP9
17 adenylate cyclase binding GO:0008179 9.71 CALM3 CALM2 CALM1
18 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ5 KCNJ2 KCNH2 KCNE2
19 protein phosphatase activator activity GO:0072542 9.7 CALM3 CALM2 CALM1
20 titin binding GO:0031432 9.67 MYBPC3 CALM3 CALM2 CALM1
21 protein kinase A catalytic subunit binding GO:0034236 9.66 RYR2 KCNQ1
22 calcium channel inhibitor activity GO:0019855 9.65 CALM2 CALM1
23 nitric-oxide synthase regulator activity GO:0030235 9.65 CALM3 CALM1
24 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.65 SCN5A SCN4B SCN1B
25 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
26 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.63 KCNQ1 KCNJ5
27 adenylate cyclase activator activity GO:0010856 9.63 CALM3 CALM2 CALM1
28 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A NOS1AP CAV3 CALM3 CALM1
29 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
30 N-terminal myristoylation domain binding GO:0031997 9.61 CALM3 CALM2 CALM1
31 voltage-gated ion channel activity GO:0005244 9.61 SCN5A SCN4B SCN1B KCNQ1 KCNJ5 KCNJ2
32 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.6 SCN5A SCN1B
33 type 3 metabotropic glutamate receptor binding GO:0031800 9.59 CALM3 CALM1
34 ion channel binding GO:0044325 9.47 SNTA1 SCN5A SCN4B SCN1B RYR2 KCNQ1
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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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