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MCID: LNG028
MIFTS: 65

Long Qt Syndrome

Categories: Rare diseases, Cardiovascular diseases, Genetic 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 76 24 53 37 29 55 6 44 15 38 63 73
Romano-Ward Syndrome 12 44 73
Long Q-T Syndrome 12
Qt Syndrome, Long 40
Lqt 12

Characteristics:

GeneReviews:

24
Penetrance Lqts exhibits reduced penetrance of the ecg changes and symptoms. overall, approximately 25% of individuals with a pathogenic variant have a normal qtc (defined as <440 msec) on baseline ecg. the percentage of genetically affected individuals with a normal qtc was higher in the lqts type 1 group (36%) than in the lqts type 2 group (19%) or type 3 group (10%) [priori et al 2003, goldenberg et al 2011]...

Classifications:

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


External Ids:

Disease Ontology 12 DOID:2843
ICD10 33 I45.81
ICD9CM 35 426.82
KEGG 37 H00720
Sources

Summaries for Long Qt Syndrome

About this section
PubMed Health : 63 About long qt syndrome: Long QT syndrome (LQTS) is a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmias (ah-RITH-me-ahs) in response to exercise or stress. Arrhythmias are problems with the rate or rhythm of the heartbeat.People who have LQTS also can have arrhythmias for no known reason. However, not everyone who has LQTS has dangerous heart rhythms. When they do occur, though, they can be fatal.

MalaCards based summary : Long Qt Syndrome, also known as romano-ward syndrome, is related to long qt syndrome 13 and long qt syndrome 9, and has symptoms including syncope An important gene associated with Long Qt Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Adrenergic signaling in cardiomyocytes and Oxytocin signaling pathway. The drugs Histamine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).

NIH Rare Diseases : 53 Long QT syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different genemutations (changes). It can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions.

Wikipedia : 76 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. This... more...

GeneReviews: NBK1129
Sources

Related Diseases for Long Qt Syndrome

About this section

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

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 13 35.4 KCNH2 KCNJ5 KCNQ1 SCN5A
2 long qt syndrome 9 35.3 CAV3 KCNJ2 SCN5A SNTA1
3 long qt syndrome 3 35.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 15 35.1 CALM1 CALM2 CALM3
5 long qt syndrome 12 34.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
6 timothy syndrome 34.8 CACNA1C KCNE1 KCNH2 KCNQ1
7 long qt syndrome 6 34.4 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
8 long qt syndrome 5 34.4 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
9 long qt syndrome 2 34.4 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
10 long qt syndrome 14 34.2 ANK2 CALM1
11 andersen cardiodysrhythmic periodic paralysis 34.2 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
12 jervell and lange-nielsen syndrome 1 33.8 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
13 long qt syndrome 1 32.8 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
14 syncope 31.7 KCNH2 KCNJ2 KCNQ1 SCN5A
15 cardiac conduction defect 31.7 KCNH2 KCNQ1 RYR2 SCN5A
16 atrioventricular block 31.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 cardiac arrest 31.4 CALM1 CALM3 KCNQ1 RYR2 SCN5A
18 sudden infant death syndrome 31.2 CAV3 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
19 short qt syndrome 31.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20 catecholaminergic polymorphic ventricular tachycardia 30.9 ANK2 CALM1 CALM2 CALM3 KCNH2 KCNJ2
21 ventricular fibrillation, paroxysmal familial, 1 30.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
22 left ventricular noncompaction 30.9 KCNQ1 RYR2 SCN5A SNTA1
23 cardiac arrhythmia 30.8 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
24 right bundle branch block 30.7 CACNA1C SCN1B SCN5A
25 atrial fibrillation 30.5 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
26 familial atrial fibrillation 30.4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN1B
27 brugada syndrome 30.4 AKAP9 ANK2 CACNA1C CALM2 CAV3 KCNE1
28 heart disease 30.4 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
29 long qt syndrome 11 12.5
30 long qt syndrome 10 12.5
31 cardiac arrhythmia, ankyrin-b-related 12.1
32 familial short qt syndrome 11.0 KCNH2 KCNJ2 KCNQ1
33 brugada syndrome 1 11.0 AKAP9 KCNH2 SCN5A
34 qt interval, variation in 10.9
35 3-methylglutaconic aciduria, type v 10.9
36 ventricular tachycardia, catecholaminergic polymorphic, 3 10.9
37 acute dacryocystitis 10.9 CALM1 CALM2 CALM3
38 external ear disease 10.9 CALM1 CALM2 CALM3
39 otitis externa 10.9 CALM1 CALM2 CALM3
40 otomycosis 10.9 CALM1 CALM2 CALM3
41 spontaneous ocular nystagmus 10.9 CALM1 CALM2 CALM3
42 sporotrichosis 10.9 CALM1 CALM2 CALM3
43 deafness, autosomal recessive 44 10.9 CALM1 CALM2 CALM3
44 dystonia 24 10.8 CALM1 CALM2 CALM3
45 deafness, autosomal dominant 2a 10.8 CALM1 CALM2 CALM3 KCNQ1
46 heart conduction disease 10.8 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
47 cardiomyopathy, dilated, 1p 10.8 AKAP9 CALM1 CALM2 CALM3
48 triosephosphate isomerase deficiency 10.8 CALM1 CALM2 CALM3
49 leber congenital amaurosis 2 10.8 CALM1 CALM2 CALM3
50 primary systemic mycosis 10.8 CALM1 CALM2 CALM3

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 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.16 SCN1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.16 SCN1B SCN5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.16 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.16 ALG10B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.16 SCN5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.16 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.16 SCN1B ALG10B SCN5A KCNE2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.16 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.16 ALG10B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.16 KCNE2 SCN1B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.16 ALG10B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.16 SCN5A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.16 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.16 KCNE2 SCN1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.16 SCN1B SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.16 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.16 ALG10B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.16 ALG10B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.16 SCN1B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.16 SCN5A ALG10B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.16 SCN5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.16 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.16 SCN1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.16 KCNE2
25 Reduced mammosphere formation GR00396-S 9.28 KCNJ5 SCN1B AKAP9 SCN4B ALG10B CALM1

MGI Mouse Phenotypes related to Long Qt Syndrome:

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

Drugs & Therapeutics for Long Qt Syndrome

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PubMedHealth treatment related to Long Qt Syndrome: 63

The goal of treating long QT syndrome (LQTS) is to prevent life-threatening, abnormal heart rhythms and fainting spells.Treatment isn't a cure for the disorder and may not restore a normal QT interval on an EKG (electrocardiogram). However, treatment greatly improves the chances of survival.

Drugs for Long Qt Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 263)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4,Phase 1 75614-87-8, 51-45-6 774
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 979-32-8
4
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 57-63-6 5991
5
Moxifloxacin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 354812-41-2, 151096-09-2 152946
6
Norgestimate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 35189-28-7 6540478
7
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 28014-46-2
8
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
9
Methyltestosterone Approved Phase 4 58-18-4 6010
10
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
11
Testosterone Approved, Investigational Phase 4 58-22-0 6013
12
Testosterone enanthate Approved Phase 4 315-37-7 9416
13
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
14 Ramosetron Approved, Investigational Phase 4 132036-88-5
15
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Haloperidol Approved Phase 4 52-86-8 3559
18
Ondansetron Approved Phase 4,Phase 1 99614-02-5 4595
19
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
20
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
21
Promethazine Approved, Investigational Phase 4 60-87-7 4927
22
Rifampicin Approved Phase 4 13292-46-1 5458213 5381226
23
Corticosterone Experimental Phase 4 50-22-6 5753
24 Gastrointestinal Agents Phase 4,Phase 2,Phase 1,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Not Applicable
26 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 1,Not Applicable
27 Sodium Channel Blockers Phase 4,Phase 2,Phase 1,Not Applicable
28 Antipruritics Phase 4,Phase 1
29 Dermatologic Agents Phase 4,Phase 3,Phase 1
30 Histamine Antagonists Phase 4,Phase 1
31 Histamine H1 Antagonists Phase 4,Phase 1
32
Histamine Phosphate Phase 4,Phase 1 51-74-1 65513
33 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Contraceptives, Oral Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Contraceptives, Oral, Combined Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Estradiol 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Estradiol 3-benzoate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Fluoroquinolones Phase 4,Phase 2,Phase 3,Phase 1
41 Norgestimate, ethinyl estradiol drug combination Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
43 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Anabolic Agents Phase 4
45 Androgens Phase 4,Phase 2
46 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Antineoplastic Agents, Hormonal Phase 4,Phase 2
48 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
49 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 118)
# Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
2 Ramosetron Pre-treatment for PONV and QT Prolongation Completed NCT03278522 Phase 4 Ramosetron
3 Hemodynamic Responses to Tracheal Intubation Direct Laryngoscope and Videolaryngoscope in Elderly Patients Completed NCT02816775 Phase 4
4 Prevention of Atrial Fibrillation Following Esophagectomy Completed NCT00420017 Phase 4 Amiodarone
5 STudy to vAlidate telemetRic ECG Systems for firsT Dose Administration of Fingolimod (START) Completed NCT01585298 Phase 4 FTY720
6 Intravenous Haloperidol Versus Ondansetron for Treatment of Established Post-operative Nausea and Vomiting Completed NCT02143531 Phase 4 4 mg of Ondansetron IV;1mg of Haloperidol IV
7 Haldol/Diphenhydramine Versus Metoclopramide/Diphenhydramine for Treatment of Acute Headache in the Emergency Department: A Randomized Controlled Trial Completed NCT02098499 Phase 4 Haloperidol;Metoclopramide 10mg;Diphenhydramine
8 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
9 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
10 Pharmacokinetics and Safety of Moxifloxacin Terminated NCT01329250 Phase 4 Moxifloxacin
11 Metoprolol Succinate in Cardiac Remodeling Related to Cirrhosis Completed NCT01676285 Phase 3 Metoprolol succinate;placebo
12 MEA112997 Open-label Long Term Extension Safety Study of Mepolizumab in Asthmatic Subjects Completed NCT01691859 Phase 3 Mepolizumab
13 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
14 A 12-Week Study To Assess The Safety Of Fluticasone Propionate/Salmeterol 100/50 Hydrofluoroalkane (HFA) Versus Fluticasone Propionate 100 HFA In Children With Asthma Completed NCT00441441 Phase 3 fluticasone propionate;fluticasone propionate/salmeterol
15 Pragmatic Clinical Trial for a More Effective Concise and Less Toxic MDR-TB Treatment Regimen(s) Recruiting NCT02589782 Phase 2, Phase 3 Bedaquiline;Pretomanid;Moxifloxacin;Linezolid;Clofazimine;Locally accepted standard of care which is consistent with the WHO recommendations for the treatment of M/XDR-TB.
16 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02802501 Phase 3 Tafenoquine;Matched-Placebo for Tafenoquine;Primaquine;Matched-Placebo for Primaquine;Dihydroartemisinin-piperaquine (DHA-PQP);ACT plus PQ (Rescue medication);PQ (End of study treatment)
17 DHA-PQP vs Chloroquine and Primaquine for Radical Cure of Vivax Malaria in Brazil Not yet recruiting NCT03208907 Phase 3 CQ coadministered with PQ;DHA-PQP coadministered with PQ;CQ and PQ starting on Day 42;DHA-PQP and PQ starting on Day 42
18 Effect of Eleclazine on Shortening of the QT Interval, Safety, and Tolerability in Adults With Long QT Syndrome Type 3 Terminated NCT02300558 Phase 3 Eleclazine;Eleclazine placebo
19 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
20 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
21 A Safety and Efficacy Study of Eltrombopag in Subjects With AML Completed NCT01890746 Phase 2 Daunorubicin;Cytarabine;Eltrombopag;Placebo
22 A Study of the Efficacy and Safety of MEDI-546 in Systemic Lupus Erythematosus Completed NCT01438489 Phase 2
23 Phase II Study of Dasatinib (BMS-354825) for Androgen-deprived Progressive Prostate Cancer Completed NCT00385580 Phase 2 dasatinib;dasatinib
24 Studies of a Candidate Aminoquinoline Antimalarial (AQ-13) Completed NCT01614964 Phase 2 AQ-13 Treatment;Coartem Treatment
25 Long QT Syndrome Screening in Newborns Recruiting NCT02412709 Phase 2
26 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2 Placebo;Ranolazine
27 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
28 Treatment With Tamoxifen in Cryptococcal Meningitis Recruiting NCT03112031 Phase 2 Tamoxifen;Amphotericin B;Fluconazole
29 A Phase 2A Evaluation of the Safety, Tolerability, Pharmacokinetics, Efficacy of Clofazimine (CFZ) in Cryptosporidiosis Recruiting NCT03341767 Phase 2 Clofazimine;Placebo
30 Trial of Intravenous Azithromycin to Eradicate Ureaplasma Respiratory Tract Infection in Preterm Infants Active, not recruiting NCT01778634 Phase 2 Azithromycin;Placebo
31 Comparison of Two Macrolides, Azithromycin and Erythromycin, for Symptomatic Treatment of Gastroparesis Terminated NCT01323582 Phase 2 Erythromycin;Azithromycin
32 A Study to Evaluate Pazopanib in Comparison to Pemetrexed in Maintenance Setting in Non-progressing Subjects With Metastatic Stage IVA and IVB Non-squamous Non-small Cell Lung Cancer (NSCLC) Population Terminated NCT01313663 Phase 2 pazopanib;pemetrexed
33 A Phase 2a Study to Evaluate the Effects of Sirukumab in Subjects With Severe Poorly Controlled Asthma Withdrawn NCT02794519 Phase 2 Sirukumab;Placebo;Rescue medication
34 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
35 Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults Completed NCT02365532 Phase 1 GS-6615;Placebo to match GS-6615;Placebo to match dofetilide;Dofetilide
36 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
37 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
38 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
39 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
40 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
41 Evaluation of Possible Effects on the QT/ QTc Interval of Rupatadine in Healthy Volunteers Completed NCT00199225 Phase 1 Rupatadine;moxifloxacin
42 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
43 Ability of Late Sodium or Calcium Current Block to Balance the ECG Effects of Potassium Current Block Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo
44 Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation Completed NCT00773201 Phase 1 Sotalol 80 mg
45 Selections of Subjects With Important Changes in Their Cardiac Repolarization Parameters for the Procurement of Skin and Blood Samples Completed NCT01338441 Phase 1 Erythromycin;Placebo
46 To Investigate the Effect of Intravenous Ondansetron on Cardiac Conduction as Compared to Placebo and Moxifloxacin in Healthy Adult Subjects Completed NCT01449188 Phase 1 ondansetron;moxifloxacin
47 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1 Moxifloxacin 400 mg fasted;Moxifloxacin 400 mg fed;Placebo
48 Study To Evaluate The Effect Of A Multiple Oral Dose Of PF-00232798 On QT Intervals In Healthy Subjects Completed NCT01140425 Phase 1 PF-00232798;PF-00232798;Placebo;Moxifloxacin
49 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
50 Multiple Dose Study to Evaluate the Safety of Multiple Doses of Denosumab 120 mg in Adults With Severe Chronic Kidney Disease (CKD) and CKD on Dialysis Completed NCT01464931 Phase 1 Denosumab

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: romano-ward syndrome

Sources

Genetic Tests for Long Qt Syndrome

About this section

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:

41
Heart, Testes, Lung, Brain, Skin, Prostate, Kidney
Sources

Publications for Long Qt Syndrome

About this section

Articles related to Long Qt Syndrome:

(show top 50) (show all 1113)
# Title Authors Year
1
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death. ( 29881912 )
2018
2
Acquired long QT syndrome and torsade de pointes. ( 29405316 )
2018
3
Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. ( 29121487 )
2018
4
Transient Outward K<sup>+</sup> Current (I<sub>to</sub>) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1. ( 29769222 )
2018
5
Even pore-localizing missense variants at highly conserved sites in <i>KCNQ1</i>-encoded K<sub>v</sub>7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation. ( 29876285 )
2018
6
New onset seizures in a patient with Long QT Syndrome (LQTS2) and a pathogenic carboxyl-terminus frameshift variant of the KCNH2 gene. ( 29739726 )
2018
7
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. ( 29431731 )
2018
8
Long QT Syndrome: A Comprehensive Review of the Literature and Current Evidence. ( 29784533 )
2018
9
Mechanisms linking T-wave alternans to spontaneous initiation of ventricular arrhythmias in rabbit models of long QT syndrome. ( 29377142 )
2018
10
Another step towards a mechanism-based, subtype-specific therapy in long QT syndrome. ( 29754926 )
2018
11
Beyond the length and look of repolarization: Defining the non-QTc electrocardiographic profiles of patients with congenital long QT syndrome. ( 29723683 )
2018
12
Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1a88- Modified Schwartz Score. ( 29925740 )
2018
13
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. ( 29431662 )
2018
14
Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome. ( 29952348 )
2018
15
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation. ( 29857160 )
2018
16
The long-QT syndrome and exercise practice: The never-ending debate. ( 29292852 )
2018
17
A wearable remote monitoring system for the identification of subjects with a prolonged QT interval or at risk for drug-induced long QT syndrome. ( 29887480 )
2018
18
Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2. ( 29875689 )
2018
19
A Potential Diagnostic Approach for Foetal Long-QT Syndrome, Developed and Validated in Children. ( 29789915 )
2018
20
Acquired long QT syndrome during conditioning for allogeneic stem cell transplantation-are we aware of this side effect? ( 29427187 )
2018
21
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, andA Cardiomyopathy. ( 29798782 )
2018
22
Genetic biomarkers for the risk of seizures in long QT syndrome. ( 29891582 )
2018
23
Type 1 long QT syndrome and psychological stress in a laboratory setting. ( 29355047 )
2018
24
Primary prevention with the implantable cardioverter-defibrillator in high-risk long-QT syndrome patients. ( 29947754 )
2018
25
Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening. ( 29931253 )
2018
26
Downregulation of Long Non-Coding RNA Kcnq1ot1: An Important Mechanism of Arsenic Trioxide-Induced Long QT Syndrome. ( 29339628 )
2018
27
Genotype-phenotype-guided medical and surgical intervention in long QT syndrome. ( 29379719 )
2018
28
Significance of T-wave inversion triggered by spontaneous atrial premature beats in patients with long QT syndrome. ( 29427819 )
2018
29
Ryanodine-receptor inhibition by dantrolene effectively suppresses ventricular arrhythmias in an ex vivo model of long-QT syndrome. ( 29314443 )
2018
30
Abnormal Repolarization Duration during Everyday Emotional Arousal in Long QT Syndrome and Coronary Artery Disease. ( 29309742 )
2018
31
The Role of <i>KCNQ1</i> Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome. ( 29740400 )
2018
32
Pain medication and long QT syndrome. ( 29372020 )
2018
33
T-wave alternans in long QT syndrome. ( 29922026 )
2018
34
A challenge for mutation specific risk stratification in long QT syndrome type 1. ( 29439887 )
2018
35
Common founder effects of hereditary hemochromatosis, WilsonA's disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the<i>WHRN</i>and<i>TMC1</i>genes. ( 29270100 )
2017
36
Ten-year experience in atenolol use and exercise evaluation in children with genetically proven long QT syndrome. ( 29255512 )
2017
37
Cardiac Events During Competitive, Recreational, and Daily Activities in Children and Adolescents With Long QT Syndrome. ( 28935680 )
2017
38
Medical therapy for long QT syndrome. ( 28685698 )
2017
39
Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis. ( 28720088 )
2017
40
The diagnosis and management of long QT syndrome based on fetal echocardiography. ( 28948143 )
2017
41
Effect of Age and Sex on the QTc Interval in Children and Adolescents With Type 1 and 2 Long-QT Syndrome. ( 28356306 )
2017
42
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2. ( 28741726 )
2017
43
Evolution in Managing Long QT Syndrome: From Registries to Centers of Excellence. ( 28728691 )
2017
44
Acquired Long-QT Syndrome: Mild but Abnormal? ( 29225273 )
2017
45
Impact of presynaptic sympathetic imbalance in long-QT syndrome by positron emission tomography. ( 28864717 )
2017
46
Successful prenatal management of ventricular tachycardia and second-degree atrioventricular block in fetal long QT syndrome. ( 28491768 )
2017
47
Population-based beat-to-beat QT analysis from Holter recordings in the long QT syndrome. ( 28919217 )
2017
48
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
49
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. ( 28820736 )
2017
50
Effect of age and gender on the QTc-interval in healthy individuals and patients with long-QT syndrome. ( 28869094 )
2017
Sources

Variations for Long Qt Syndrome

About this section

ClinVar genetic disease variations for Long Qt Syndrome:

6
(show top 50) (show all 4199)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
2 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh38 Chromosome 11, 2570719: 2570719
3 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
4 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh38 Chromosome 11, 2572089: 2572089
5 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
6 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
7 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
8 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
9 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
10 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh38 Chromosome 11, 2776032: 2776032
11 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh37 Chromosome 11, 2790111: 2790111
12 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh38 Chromosome 11, 2768881: 2768881
13 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
14 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh38 Chromosome 11, 2583545: 2583545
15 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
16 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh38 Chromosome 11, 2778003: 2778003
17 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
18 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh38 Chromosome 11, 2572870: 2572870
19 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
20 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh38 Chromosome 11, 2572871: 2572871
21 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
22 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
23 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
24 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
25 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
26 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396
27 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
28 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh38 Chromosome 7, 150951711: 150951711
29 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
30 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh38 Chromosome 7, 150951649: 150951649
31 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
32 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh38 Chromosome 7, 150948995: 150948995
33 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh37 Chromosome 7, 150647399: 150647399
34 KCNH2 NM_000238.3(KCNH2): c.2255G> A (p.Arg752Gln) single nucleotide variant Likely pathogenic rs121912512 GRCh38 Chromosome 7, 150950311: 150950311
35 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh37 Chromosome 6, 7580222: 7580222
36 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Likely pathogenic rs121912997 GRCh38 Chromosome 6, 7579989: 7579989
37 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh37 Chromosome 12, 2614110: 2614110
38 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh38 Chromosome 12, 2504944: 2504944
39 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
40 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh38 Chromosome 7, 150951552: 150951552
41 KCNQ1 NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs193922365 GRCh37 Chromosome 11, 2594200: 2594200
42 KCNQ1 NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val) single nucleotide variant Likely pathogenic rs193922365 GRCh38 Chromosome 11, 2572970: 2572970
43 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
44 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh38 Chromosome 11, 2571333: 2571333
45 KCNQ1 NM_000218.2(KCNQ1): c.1013C> T (p.Ser338Phe) single nucleotide variant Likely pathogenic rs199472758 GRCh37 Chromosome 11, 2604756: 2604756
46 KCNQ1 NM_000218.2(KCNQ1): c.1013C> T (p.Ser338Phe) single nucleotide variant Likely pathogenic rs199472758 GRCh38 Chromosome 11, 2583526: 2583526
47 KCNQ1 NM_000218.2(KCNQ1): c.1017_1019delCTT (p.Phe340del) deletion Pathogenic rs397508068 GRCh37 Chromosome 11, 2604760: 2604762
48 KCNQ1 NM_000218.2(KCNQ1): c.1017_1019delCTT (p.Phe340del) deletion Pathogenic rs397508068 GRCh38 Chromosome 11, 2583530: 2583532
49 KCNQ1 NM_000218.2(KCNQ1): c.1032+1G> A single nucleotide variant Pathogenic rs397508070 GRCh37 Chromosome 11, 2604776: 2604776
50 KCNQ1 NM_000218.2(KCNQ1): c.1032+1G> A single nucleotide variant Pathogenic rs397508070 GRCh38 Chromosome 11, 2583546: 2583546

Copy number variations for Long Qt Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48309 11 1 10700000 Gain Long-qt syndrome
2 221890 21 34740857 34806443 Genomic rearrangement KCNE1 Long-qt syndrome
3 221892 21 34658192 34665310 Genomic rearrangemen t KCNE2 Long-qt syndrome
4 221894 7 147500000 154700000 Genomic rearrangement KCNH2 Long-qt syndrome
5 221896 11 2422796 2826916 Genomic rearrangemen t KCNQ1 Long-qt syndrome
6 221898 3 38564556 38666167 Genomic rearrangemen t SCN5A Long-qt syndrome
7 221930 7 147900000 152600000 Loss Long-qt syndrome
Sources

Expression for Long Qt Syndrome

About this section
Search GEO for disease gene expression data for Long Qt Syndrome.
Sources

Pathways for Long Qt Syndrome

About this section

Pathways related to Long Qt Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Adrenergic signaling in cardiomyocytes hsa04261
2 Oxytocin signaling pathway hsa04921

Pathways related to Long Qt Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.57 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
2
Developmental Biology 66
Show member pathways
 13.5 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
3
DAG and IP3 signaling 66
Show member pathways
 13.1 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
4
G-Beta Gamma Signaling 64
Show member pathways
 13.02 CACNA1C CALM1 CALM2 CALM3 KCNJ5 SCN1B
5
Transmission across Chemical Synapses 66
Show member pathways
 12.99 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ2
6
Aldosterone synthesis and secretion 37
Show member pathways
 12.97 CACNA1C CALM1 CALM2 CALM3 KCNE1 KCNJ5
7
Circadian entrainment 37
Show member pathways
 12.96 CACNA1C CALM1 CALM2 CALM3 KCNJ2 KCNJ5
8
Cardiac conduction 66
Show member pathways
 12.86 AKAP9 CACNA1C CALM1 CALM2 CALM3 CAV3
9
Vascular smooth muscle contraction 37
Show member pathways
 12.71 CACNA1C CALM1 CALM2 CALM3 KCNJ2 KCNJ5
10
ADP signalling through P2Y purinoceptor 12 66
Show member pathways
 12.53 CACNA1C CALM1 CALM2 CALM3
11
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.53 CACNA1C CALM1 CALM2 CALM3 KCNJ5 RYR2
12
Ion channel transport 66
Show member pathways
 12.52 CALM1 CALM2 CALM3 RYR2
13
BMP Pathway 64
Show member pathways
 12.5 CACNA1C CALM1 CALM2 CALM3 RYR2 SNTA1
14
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.32 CACNA1C CALM1 CALM2 CALM3
15
cAMP signaling pathway 37
Show member pathways
 12.29 CACNA1C CALM1 CALM2 CALM3 RYR2
16
Post NMDA receptor activation events 66
Show member pathways
 12.26 AKAP9 CALM1 CALM2 CALM3
17
Calcium signaling pathway 37
Show member pathways
 12.25 CACNA1C CALM1 CALM2 CALM3 RYR2
18
Long-term potentiation 37
Show member pathways
 12.2 CACNA1C CALM1 CALM2 CALM3
19
Potassium Channels 66
Show member pathways
 12.15 KCNH2 KCNJ2 KCNJ5 KCNQ1
20
Salivary secretion 37
Show member pathways
 12.15 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
21
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.14 CAV3 KCNH2 KCNQ1 NOS1AP RYR2 SCN4B
22
Immune response Function of MEF2 in T lymphocytes 22
Show member pathways
 12.13 CACNA1C CALM1 CALM2 CALM3
23
Fluid shear stress and atherosclerosis 37
12.12 CALM1 CALM2 CALM3 CAV3
24
Apelin signaling pathway 37
12.11 CALM1 CALM2 CALM3 RYR2
25
L1CAM interactions 66
Show member pathways
 12.05 ANK2 SCN1B SCN4B SCN5A
26
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.05 AKAP9 CACNA1C CALM1 CALM2 CALM3 KCNE1
27
Translation Translation regulation by Alpha-1 adrenergic receptors 22
Show member pathways
 12.03 CACNA1C CALM1 CALM2 CALM3
28
Amphetamine addiction 37
Show member pathways
 12.01 CACNA1C CALM1 CALM2 CALM3
29
Inositol phosphate metabolism 66
Show member pathways
 11.95 CALM1 CALM2 CALM3
30
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 66
Show member pathways
 11.92 CALM1 CALM2 CALM3
31
Glucagon signaling pathway 37
11.91 CALM1 CALM2 CALM3
32
ErbB1 downstream signaling 1
11.9 CALM1 CALM2 CALM3
33
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.88 CALM1 CALM2 CALM3
34
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.86 CALM1 CALM2 CALM3
35
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.85 CALM1 CALM2 CALM3
36
Uptake and actions of bacterial toxins 66
Show member pathways
 11.79 CALM1 CALM2 CALM3
37
Metabolism of nitric oxide 66
Show member pathways
 11.78 CALM1 CALM2 CALM3
38
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.76 CALM1 CALM2 CALM3
39
Pertussis 37
11.76 CALM1 CALM2 CALM3
40
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.75 CALM1 CALM2 CALM3
41
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.7 CALM1 CALM2 CALM3
42
Antiarrhythmic Pathway, Pharmacodynamics 61
11.68 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
43
Translocation of GLUT4 to the plasma membrane 66
11.66 CALM1 CALM2 CALM3
44
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.65 CALM1 CALM2 CALM3
45
Renin secretion 37
11.61 CACNA1C CALM1 CALM2 CALM3 KCNJ2
46
Role of Calcineurin-dependent NFAT signaling in lymphocytes 1
11.57 CALM1 CALM2 CALM3
47
Glycogen Metabolism 1
11.39 CALM1 CALM2 CALM3
48
Nur77 Signaling in T-Cell 64
11.38 CALM1 CALM2 CALM3
49
Smooth Muscle Contraction 66
11.37 CALM1 CALM2 CALM3 CAV3
50
N-cadherin signaling events 1
11.35 CALM1 CALM2 CALM3
Sources

GO Terms for Long Qt Syndrome

About this section

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.99 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 protein-containing complex GO:0032991 9.97 CALM1 CALM2 CALM3 RYR2 SNTA1
3 membrane raft GO:0045121 9.86 ANK2 CAV3 KCNE1 KCNQ1
4 sarcolemma GO:0042383 9.85 ANK2 CAV3 NOS1AP RYR2 SCN5A SNTA1
5 vesicle GO:0031982 9.83 CALM1 CALM2 CALM3 CAV3
6 Z disc GO:0030018 9.8 ANK2 CACNA1C CAV3 KCNE1 NOS1AP RYR2
7 sarcomere GO:0030017 9.76 CALM1 CALM2 CALM3 RYR2
8 caveola GO:0005901 9.72 CAV3 NOS1AP SCN5A
9 calcium channel complex GO:0034704 9.71 CALM1 CALM2 CALM3 RYR2
10 spindle microtubule GO:0005876 9.69 CALM1 CALM2 CALM3
11 voltage-gated sodium channel complex GO:0001518 9.65 SCN1B SCN4B SCN5A
12 intercalated disc GO:0014704 9.63 ANK2 CAV3 KCNJ2 SCN1B SCN4B SCN5A
13 catalytic complex GO:1902494 9.61 CALM1 CALM2 CALM3
14 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNA1C NOS1AP
15 voltage-gated potassium channel complex GO:0008076 9.5 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
16 inward rectifier potassium channel complex GO:1902937 9.49 KCNH2 NOS1AP
17 T-tubule GO:0030315 9.17 ANK2 CAV3 KCNJ2 KCNJ5 NOS1AP SCN1B
18 membrane GO:0016020 10.46 ALG10B ANK2 CACNA1C CAV3 KCNE1 KCNE2
19 integral component of membrane GO:0016021 10.38 ALG10B CACNA1C CAV3 KCNE1 KCNE2 KCNH2
20 plasma membrane GO:0005886 10.28 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.97 ANK2 CACNA1C CALM1 CALM2 CALM3 RYR2
2 positive regulation of potassium ion transmembrane transport GO:1901381 9.95 KCNE1 KCNH2 KCNJ2 KCNQ1 NOS1AP
3 regulation of cardiac muscle contraction GO:0055117 9.95 ANK2 CALM1 CALM2 CALM3 CAV3 RYR2
4 muscle contraction GO:0006936 9.93 CALM1 CAV3 SNTA1
5 sodium ion transmembrane transport GO:0035725 9.92 SCN1B SCN4B SCN5A
6 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.92 CACNA1C KCNJ2 SCN1B SCN4B SCN5A
7 cellular response to drug GO:0035690 9.91 KCNE2 KCNH2 KCNQ1
8 response to calcium ion GO:0051592 9.91 CALM1 CALM2 CALM3
9 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.91 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
10 regulation of membrane repolarization GO:0060306 9.91 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
11 cardiac conduction GO:0061337 9.91 AKAP9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
12 cellular response to cAMP GO:0071320 9.9 AKAP9 KCNE1 KCNQ1
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.89 CALM1 CALM2 CALM3
14 substantia nigra development GO:0021762 9.89 CALM1 CALM2 CALM3
15 detection of calcium ion GO:0005513 9.89 CALM1 CALM2 CALM3 RYR2
16 regulation of cytokinesis GO:0032465 9.88 CALM1 CALM2 CALM3
17 potassium ion import GO:0010107 9.88 KCNE2 KCNJ2 KCNJ5
18 membrane repolarization GO:0086009 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
19 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.88 KCNE1 KCNH2 KCNJ2 KCNQ1
20 potassium ion export GO:0071435 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
21 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.86 CALM1 CALM2 CALM3
22 membrane depolarization during action potential GO:0086010 9.86 CACNA1C KCNH2 SCN5A
23 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM1 CALM2 CALM3
24 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
25 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM1 CALM2 CALM3
26 membrane repolarization during action potential GO:0086011 9.85 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27 regulation of sodium ion transmembrane transporter activity GO:2000649 9.84 CAV3 SCN1B SCN4B
28 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNE1 KCNE2 KCNH2
29 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM1 CALM2 CALM3
30 positive regulation of sodium ion transport GO:0010765 9.83 SCN1B SCN4B SCN5A
31 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.83 CALM1 CALM2 CALM3
32 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.82 CALM1 CALM2 CALM3
33 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.82 CALM1 CALM2 CALM3
34 regulation of cardiac muscle cell contraction GO:0086004 9.81 ANK2 KCNJ2 SCN5A
35 ventricular cardiac muscle cell action potential GO:0086005 9.81 ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
36 atrial cardiac muscle cell action potential GO:0086014 9.8 ANK2 KCNQ1 SCN5A
37 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.8 CALM1 CALM2 CALM3
38 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.79 CALM1 CALM2 CALM3
39 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.79 CALM1 CALM2 CALM3
40 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.78 CALM1 CALM2 CALM3
41 calcium ion transport into cytosol GO:0060402 9.75 CACNA1C RYR2
42 cellular response to epinephrine stimulus GO:0071872 9.75 KCNQ1 RYR2
43 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 CACNA1C RYR2
44 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.75 CACNA1C RYR2
45 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.74 KCNE1 KCNE2
46 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.74 SCN1B SCN5A
47 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.74 CAV3 SCN5A
48 negative regulation of potassium ion transmembrane transport GO:1901380 9.74 CAV3 KCNH2
49 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.74 AKAP9 CAV3
50 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.74 ANK2 RYR2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.95 CALM1 CALM2 CALM3 SCN5A
2 calmodulin binding GO:0005516 9.95 CACNA1C KCNQ1 RYR2 SCN5A SNTA1
3 ion channel activity GO:0005216 9.92 CACNA1C KCNH2 RYR2 SCN5A
4 potassium channel activity GO:0005267 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated potassium channel activity GO:0005249 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.81 KCNH2 KCNQ1 SCN5A
7 sodium channel regulator activity GO:0017080 9.8 CAV3 SCN1B SCN4B SNTA1
8 potassium channel regulator activity GO:0015459 9.79 AKAP9 KCNE1 KCNE2
9 disordered domain specific binding GO:0097718 9.79 CALM1 CALM2 CALM3
10 sodium channel activity GO:0005272 9.78 SCN1B SCN4B SCN5A
11 protein serine/threonine kinase activator activity GO:0043539 9.77 CALM1 CALM2 CALM3
12 delayed rectifier potassium channel activity GO:0005251 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
13 voltage-gated sodium channel activity GO:0005248 9.75 SCN1B SCN4B SCN5A
14 protein kinase A regulatory subunit binding GO:0034237 9.73 AKAP9 KCNQ1 RYR2
15 titin binding GO:0031432 9.7 CALM1 CALM2 CALM3
16 adenylate cyclase binding GO:0008179 9.69 CALM1 CALM2 CALM3
17 inward rectifier potassium channel activity GO:0005242 9.67 KCNE2 KCNH2 KCNJ2 KCNJ5
18 protein kinase A catalytic subunit binding GO:0034236 9.65 KCNQ1 RYR2
19 protein phosphatase activator activity GO:0072542 9.65 CALM1 CALM2 CALM3
20 calcium channel inhibitor activity GO:0019855 9.64 CALM1 CALM2
21 G-protein activated inward rectifier potassium channel activity GO:0015467 9.64 KCNJ2 KCNJ5
22 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.63 KCNJ5 KCNQ1
23 nitric-oxide synthase binding GO:0050998 9.62 CAV3 NOS1AP SCN5A SNTA1
24 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.61 SCN1B SCN4B SCN5A
25 voltage-gated ion channel activity GO:0005244 9.61 CACNA1C KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
26 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.59 SCN1B SCN5A
27 N-terminal myristoylation domain binding GO:0031997 9.58 CALM1 CALM2 CALM3
28 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNE1 KCNH2 KCNJ2 KCNQ1
29 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
30 ion channel binding GO:0044325 9.4 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
31 protein binding GO:0005515 10.58 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
32 protein kinase binding GO:0019901 10.06 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A
Sources

Sources for Long Qt Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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