LQT
MCID: LNG028
MIFTS: 65

Long Qt Syndrome (LQT)

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

Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 12 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:



External Ids:

Disease Ontology 12 DOID:2843
ICD10 33 I45.81
ICD9CM 35 426.82
SNOMED-CT 68 20852007 9651007
KEGG 37 H00720

Summaries for Long Qt Syndrome

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 9 and long qt syndrome 13, 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 brain, and related phenotypes are Decreased shRNA abundance and Reduced mammosphere formation

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

Related Diseases for Long Qt Syndrome

Diseases in the Long Qt Syndrome family:

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

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

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 34.6 CAV3 KCNJ2 SCN5A SNTA1
2 long qt syndrome 13 34.6 KCNH2 KCNJ5 KCNQ1 SCN5A
3 long qt syndrome 3 34.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 2 34.5 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
5 long qt syndrome 15 34.4 CALM1 CALM2 CALM3
6 long qt syndrome 12 34.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
7 long qt syndrome 5 34.4 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
8 long qt syndrome 6 34.3 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
9 long qt syndrome 14 34.2 ANK2 CALM1
10 timothy syndrome 34.1 CACNA1C KCNE1 KCNH2 KCNQ1
11 long qt syndrome 1 34.0 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
12 andersen cardiodysrhythmic periodic paralysis 33.5 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
13 jervell and lange-nielsen syndrome 1 33.5 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
14 atrioventricular block 31.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A TRPM4
15 cardiac conduction defect 31.0 KCNH2 KCNQ1 RYR2 SCN5A
16 syncope 30.9 KCNH2 KCNJ2 KCNQ1 SCN5A
17 sudden infant death syndrome 30.8 CAV3 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
18 brugada syndrome 30.8 AKAP9 ANK2 CACNA1C CALM2 CAV3 KCNE1
19 cardiac arrest 30.7 AKAP9 ANK2 CALM1 CALM2 CALM3 KCNH2
20 ventricular fibrillation, paroxysmal familial, 1 30.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
21 catecholaminergic polymorphic ventricular tachycardia 30.7 ANK2 CALM1 CALM2 CALM3 KCNH2 KCNJ2
22 atrial fibrillation 30.6 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23 hypertrophic cardiomyopathy 30.5 CACNA1C CAV3 RYR2 SCN5A
24 dilated cardiomyopathy 30.5 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
25 heart disease 30.5 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
26 short qt syndrome 30.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27 cardiac arrhythmia 30.5 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
28 left ventricular noncompaction 30.4 KCNQ1 RYR2 SCN5A SNTA1
29 arrhythmogenic right ventricular cardiomyopathy 30.3 ANK2 KCNH2 RYR2 SCN5A
30 familial atrial fibrillation 30.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN4B
31 right bundle branch block 30.1 CACNA1C SCN5A TRPM4
32 long qt syndrome 11 12.6
33 long qt syndrome 10 12.6
34 cardiac arrhythmia, ankyrin-b-related 12.3
35 qt interval, variation in 11.1
36 3-methylglutaconic aciduria, type v 11.1
37 ventricular tachycardia, catecholaminergic polymorphic, 3 11.1
38 familial short qt syndrome 10.3 KCNH2 KCNJ2 KCNQ1
39 brugada syndrome 1 10.3 AKAP9 KCNH2 SCN5A
40 otomycosis 10.3 CALM1 CALM2 CALM3
41 external ear disease 10.3 CALM1 CALM2 CALM3
42 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.3 CALM1 CALM2 CALM3
43 sporotrichosis 10.3 CALM1 CALM2 CALM3
44 epilepsy 10.3
45 otitis externa 10.3 CALM1 CALM2 CALM3
46 spontaneous ocular nystagmus 10.3 CALM1 CALM2 CALM3
47 deafness, autosomal recessive 44 10.3 CALM1 CALM2 CALM3
48 dystonia 24 10.3 CALM1 CALM2 CALM3
49 gestational choriocarcinoma 10.3 CALM1 CALM2 CALM3
50 triosephosphate isomerase deficiency 10.3 CALM1 CALM2 CALM3

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



Diseases related to Long Qt Syndrome

Symptoms & Phenotypes for Long Qt Syndrome

UMLS symptoms related to Long Qt Syndrome:


syncope

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.35 ALG10B KCNH2 KCNQ1 SCN4B TRPM4
2 Reduced mammosphere formation GR00396-S 9.23 AKAP9 ALG10B CALM1 CALM2 CALM3 CAV3

MGI Mouse Phenotypes related to Long Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 CACNA1C CAV3 KCNH2 KCNJ2 KCNJ5 KCNQ1
2 muscle MP:0005369 9.23 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 RYR2

Drugs & Therapeutics for Long Qt Syndrome

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 279)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4,Phase 1 51-45-6, 75614-87-8 774
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
3
Moxifloxacin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 354812-41-2, 151096-09-2 152946
4 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 979-32-8
5
Norgestimate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 35189-28-7 6540478
6
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 57-63-6 5991
7
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 28014-46-2
8
Testosterone Approved, Investigational Phase 4 58-22-0 6013
9
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
10
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
11
Methyltestosterone Approved Phase 4 58-18-4 6010
12
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
13
Testosterone enanthate Approved Phase 4 315-37-7 9416
14
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
15
Ondansetron Approved Phase 4,Phase 1 99614-02-5 4595
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Haloperidol Approved Phase 4 52-86-8 3559
18
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
19
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
20
Promethazine Approved, Investigational Phase 4 60-87-7 4927
21
Rifampicin Approved Phase 4 13292-46-1 5458213 5381226
22 Ramosetron Investigational Phase 4 132036-88-5
23
Corticosterone Experimental Phase 4 50-22-6 5753
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Not Applicable
26 Autonomic Agents Phase 4,Phase 3,Phase 1,Not Applicable
27 Gastrointestinal Agents Phase 4,Phase 2,Phase 1,Not Applicable
28 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 1,Not Applicable
29 Sodium Channel Blockers Phase 4,Phase 2,Phase 1,Not Applicable
30 Antipruritics Phase 4,Phase 1
31 Dermatologic Agents Phase 4,Phase 3,Phase 1
32
Histamine Phosphate Phase 4,Phase 1 51-74-1 65513
33 Histamine Antagonists Phase 4,Phase 1
34 Histamine H1 Antagonists Phase 4,Phase 1
35 Contraceptives, Oral, Combined Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Estradiol 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Contraceptives, Oral 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 Nucleic Acid Synthesis Inhibitors 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 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Fluoroquinolones Phase 4,Phase 2,Phase 3,Phase 1
46 Antineoplastic Agents, Hormonal Phase 4,Phase 2
47 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
48 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Androgens Phase 4,Phase 2
50 Progestins Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 123)
# 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 Study of DA-9501 In Pediatric Subjects In The Intensive Care Unit Completed NCT02757625 Phase 3 Dexmedetomidine hydrochloride
16 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.
17 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)
18 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
19 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
20 Long QT Syndrome Screening in Newborns Unknown status NCT02412709 Phase 2
21 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
22 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
23 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
24 A Safety and Efficacy Study of Eltrombopag in Subjects With AML Completed NCT01890746 Phase 2 Daunorubicin;Cytarabine;Eltrombopag;Placebo
25 A Study of the Efficacy and Safety of MEDI-546 in Systemic Lupus Erythematosus Completed NCT01438489 Phase 2
26 Phase II Study of Dasatinib (BMS-354825) for Androgen-deprived Progressive Prostate Cancer Completed NCT00385580 Phase 2 dasatinib;dasatinib
27 Studies of a Candidate Aminoquinoline Antimalarial (AQ-13) Completed NCT01614964 Phase 2 AQ-13 Treatment;Coartem Treatment
28 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
29 Treatment With Tamoxifen in Cryptococcal Meningitis Recruiting NCT03112031 Phase 2 Tamoxifen;Amphotericin B;Fluconazole
30 A Phase 2A Evaluation of the Safety, Tolerability, Pharmacokinetics, Efficacy of Clofazimine (CFZ) in Cryptosporidiosis Recruiting NCT03341767 Phase 2 Clofazimine;Placebo
31 Trial of Intravenous Azithromycin to Eradicate Ureaplasma Respiratory Tract Infection in Preterm Infants Active, not recruiting NCT01778634 Phase 2 Azithromycin;Placebo
32 Comparison of Two Macrolides, Azithromycin and Erythromycin, for Symptomatic Treatment of Gastroparesis Terminated NCT01323582 Phase 2 Erythromycin;Azithromycin
33 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
34 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
35 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
36 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
37 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
38 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
39 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
40 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
41 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
42 Evaluation of Possible Effects on the QT/ QTc Interval of Rupatadine in Healthy Volunteers Completed NCT00199225 Phase 1 Rupatadine;moxifloxacin
43 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
44 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
45 Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation Completed NCT00773201 Phase 1 Sotalol 80 mg
46 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
47 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
48 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1 Moxifloxacin 400 mg fasted;Moxifloxacin 400 mg fed;Placebo
49 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
50 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin

Search NIH Clinical Center for Long Qt Syndrome

Cochrane evidence based reviews: romano-ward syndrome

Genetic Tests for Long Qt Syndrome

Genetic tests related to Long Qt Syndrome:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 29

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

41
Heart, Testes, Brain, Bone, Kidney, Eye, Bone Marrow

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 1413)
# Title Authors Year
1
Electro-mechanical (dys-)function in long QT syndrome type 1. ( 30017522 )
2019
2
Prevalence and clinical phenotype of concomitant long QT syndrome and arrhythmogenic bileaflet mitral valve prolapse. ( 30219255 )
2019
3
Cardiac electrical and mechanical alterations - united in the long QT syndrome. ( 30236503 )
2019
4
A personalized approach to long QT syndrome. ( 30394905 )
2019
5
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death. ( 29881912 )
2018
6
Acquired long QT syndrome and torsade de pointes. ( 29405316 )
2018
7
Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. ( 29121487 )
2018
8
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
9
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
10
New onset seizures in a patient with Long QT Syndrome (LQTS2) and a pathogenic carboxyl-terminus frameshift variant of the KCNH2 gene. ( 29739726 )
2018
11
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. ( 29431731 )
2018
12
Long QT Syndrome: A Comprehensive Review of the Literature and Current Evidence. ( 29784533 )
2018
13
Mechanisms linking T-wave alternans to spontaneous initiation of ventricular arrhythmias in rabbit models of long QT syndrome. ( 29377142 )
2018
14
Another step towards a mechanism-based, subtype-specific therapy in long QT syndrome. ( 29754926 )
2018
15
Beyond the length and look of repolarization: Defining the non-QTc electrocardiographic profiles of patients with congenital long QT syndrome. ( 29723683 )
2018
16
Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1a88- Modified Schwartz Score. ( 29925740 )
2018
17
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. ( 29431662 )
2018
18
Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome. ( 29952348 )
2018
19
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation. ( 29857160 )
2018
20
The long-QT syndrome and exercise practice: The never-ending debate. ( 29292852 )
2018
21
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
22
Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2. ( 29875689 )
2018
23
A Potential Diagnostic Approach for Foetal Long-QT Syndrome, Developed and Validated in Children. ( 29789915 )
2018
24
Acquired long QT syndrome during conditioning for allogeneic stem cell transplantation-are we aware of this side effect? ( 29427187 )
2018
25
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, andA Cardiomyopathy. ( 29798782 )
2018
26
Genetic biomarkers for the risk of seizures in long QT syndrome. ( 29891582 )
2018
27
Type 1 long QT syndrome and psychological stress in a laboratory setting. ( 29355047 )
2018
28
Primary prevention with the implantable cardioverter-defibrillator in high-risk long-QT syndrome patients. ( 29947754 )
2018
29
Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening. ( 29931253 )
2018
30
Downregulation of Long Non-Coding RNA Kcnq1ot1: An Important Mechanism of Arsenic Trioxide-Induced Long QT Syndrome. ( 29339628 )
2018
31
Genotype-phenotype-guided medical and surgical intervention in long QT syndrome. ( 29379719 )
2018
32
Significance of T-wave inversion triggered by spontaneous atrial premature beats in patients with long QT syndrome. ( 29427819 )
2018
33
Ryanodine-receptor inhibition by dantrolene effectively suppresses ventricular arrhythmias in an ex vivo model of long-QT syndrome. ( 29314443 )
2018
34
Abnormal Repolarization Duration during Everyday Emotional Arousal in Long QT Syndrome and Coronary Artery Disease. ( 29309742 )
2018
35
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
36
Pain medication and long QT syndrome. ( 29372020 )
2018
37
Gender difference in Brugada syndrome: Mirror images of long QT syndrome? ( 30217525 )
2018
38
Amitriptyline May Have Possibility to Induce Brugada Syndrome Rather than Long QT Syndrome. ( 28616803 )
2018
39
A Hiccup in Hiccup Management: Cardiac Arrest from Previously Undiagnosed Congenital Long QT Syndrome. ( 30405918 )
2018
40
They Are Not Monozygotic Twins - Long QT Syndrome Type 1 (LQT1) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 30089744 )
2018
41
Epilepsy in patients with long QT syndrome type 1: A Norwegian family. ( 30406014 )
2018
42
Long QT syndrome masquerading as epilepsy. ( 30323052 )
2018
43
Patients diagnosed with long QT syndrome after repair of congenital heart disease. ( 30246897 )
2018
44
Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy. ( 30354306 )
2018
45
Prevalence and risk factors of acquired long QT syndrome in hospitalized patients with chronic kidney disease. ( 30367011 )
2018
46
Genotype and clinical characteristics of congenital long QT syndrome in Thailand. ( 30036649 )
2018
47
Wearable cardioverter defibrillators for patients with long QT syndrome. ( 30041777 )
2018
48
Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography. ( 30047011 )
2018
49
Using registries to predict outcome: the implantable cardioverter-defibrillator in long QT syndrome. ( 30053005 )
2018
50
Management of anaphylaxis and allergies in patients with long QT syndrome: A review of the current evidence. ( 30059791 )
2018

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 5305)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh37 Chromosome 3, 32181723: 32181723
2 GPD1L NM_015141.3(GPD1L): c.370A> G (p.Ile124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72552293 GRCh38 Chromosome 3, 32140231: 32140231
3 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
4 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
5 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh38 Chromosome 11, 2570719: 2570719
6 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
7 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 GRCh38 Chromosome 11, 2572089: 2572089
8 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
9 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
10 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
11 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh38 Chromosome 11, 2583535: 2583535
12 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
13 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh38 Chromosome 11, 2776032: 2776032
14 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh37 Chromosome 11, 2594193: 2594193
15 KCNQ1 NM_000218.2(KCNQ1): c.898G> A (p.Ala300Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs120074187 GRCh38 Chromosome 11, 2572963: 2572963
16 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs587776555 GRCh38 Chromosome 11, 2445309: 2445317
17 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Uncertain significance rs587776555 GRCh37 Chromosome 11, 2466539: 2466547
18 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh37 Chromosome 11, 2790111: 2790111
19 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh38 Chromosome 11, 2768881: 2768881
20 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh38 Chromosome 11, 2583545: 2583545
21 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
22 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh38 Chromosome 11, 2778003: 2778003
23 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
24 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh38 Chromosome 11, 2778009: 2778009
25 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
26 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh38 Chromosome 11, 2572870: 2572870
27 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
28 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh38 Chromosome 11, 2572871: 2572871
29 AKAP9 NM_005751.4(AKAP9): c.4709C> T (p.Ser1570Leu) single nucleotide variant Uncertain significance rs121908566 GRCh37 Chromosome 7, 91670004: 91670004
30 AKAP9 NM_005751.4(AKAP9): c.4709C> T (p.Ser1570Leu) single nucleotide variant Uncertain significance rs121908566 GRCh38 Chromosome 7, 92040690: 92040690
31 KCNE2 NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315449 GRCh37 Chromosome 21, 35742856: 35742856
32 KCNE2 NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315449 GRCh38 Chromosome 21, 34370557: 34370557
33 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh37 Chromosome 3, 8787263: 8787263
34 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh38 Chromosome 3, 8745577: 8745577
35 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
36 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
37 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
38 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
39 CAV3 NM_033337.2(CAV3): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs28936685 GRCh37 Chromosome 3, 8787357: 8787357
40 CAV3 NM_033337.2(CAV3): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs28936685 GRCh38 Chromosome 3, 8745671: 8745671
41 CAV3 NM_033337.2(CAV3): c.277G> A (p.Ala93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28936686 GRCh37 Chromosome 3, 8787374: 8787374
42 CAV3 NM_033337.2(CAV3): c.277G> A (p.Ala93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs28936686 GRCh38 Chromosome 3, 8745688: 8745688
43 CAV3 NM_033337.2(CAV3): c.233C> T (p.Thr78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72546668 GRCh37 Chromosome 3, 8787330: 8787330
44 CAV3 NM_033337.2(CAV3): c.233C> T (p.Thr78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72546668 GRCh38 Chromosome 3, 8745644: 8745644
45 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
46 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
47 SCN5A NM_198056.2(SCN5A): c.5455G> A (p.Asp1819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs137854619 GRCh37 Chromosome 3, 38592408: 38592408
48 SCN5A NM_198056.2(SCN5A): c.5455G> A (p.Asp1819Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs137854619 GRCh38 Chromosome 3, 38550917: 38550917
49 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
50 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396

Copy number variations for Long Qt Syndrome from CNVD:

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

Expression for Long Qt Syndrome

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

Pathways for Long Qt Syndrome

Pathways related to Long Qt Syndrome according to KEGG:

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

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

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
2
Show member pathways
13.51 AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3
3
Show member pathways
13.09 AKAP9 CACNA1C CALM1 CALM2 CALM3 RYR2
4
Show member pathways
13.02 CACNA1C CALM1 CALM2 CALM3 KCNJ5 SCN4B
5
Show member pathways
12.98 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ2
6
Show member pathways
12.96 CACNA1C CALM1 CALM2 CALM3 KCNJ2 KCNJ5
7
Show member pathways
12.83 AKAP9 CACNA1C CALM1 CALM2 CALM3 CAV3
8
Show member pathways
12.74 CACNA1C CALM1 CALM2 CALM3 KCNE1 KCNJ5
9
Show member pathways
12.69 CACNA1C CALM1 CALM2 CALM3 KCNJ2 KCNJ5
10
Show member pathways
12.55 CALM1 CALM2 CALM3 RYR2 TRPM4
11
Show member pathways
12.53 CACNA1C CALM1 CALM2 CALM3
12
Show member pathways
12.51 CACNA1C CALM1 CALM2 CALM3 KCNJ5 RYR2
13
Show member pathways
12.47 CACNA1C CALM1 CALM2 CALM3 RYR2 SNTA1
14
Show member pathways
12.42 CACNA1C CALM1 CALM2 CALM3
15
Show member pathways
12.32 CACNA1C CALM1 CALM2 CALM3
16
Show member pathways
12.28 CACNA1C CALM1 CALM2 CALM3 RYR2
17
Show member pathways
12.24 AKAP9 CALM1 CALM2 CALM3
18
Show member pathways
12.24 CACNA1C CALM1 CALM2 CALM3 RYR2
19
Show member pathways
12.19 CACNA1C CALM1 CALM2 CALM3
20 12.18 CAV3 KCNH2 KCNQ1 NOS1AP RYR2 SCN4B
21
Show member pathways
12.15 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
22
Show member pathways
12.14 KCNH2 KCNJ2 KCNJ5 KCNQ1
23
Show member pathways
12.13 CACNA1C CALM1 CALM2 CALM3
24 12.11 CALM1 CALM2 CALM3 CAV3
25 12.1 CALM1 CALM2 CALM3 RYR2
26 12.05 AKAP9 CACNA1C CALM1 CALM2 CALM3 KCNE1
27
Show member pathways
12.03 CACNA1C CALM1 CALM2 CALM3
28
Show member pathways
12 CACNA1C CALM1 CALM2 CALM3
29
Show member pathways
11.96 CALM1 CALM2 CALM3
30
Show member pathways
11.93 CALM1 CALM2 CALM3
31 11.92 CALM1 CALM2 CALM3
32 11.91 CALM1 CALM2 CALM3
33
Show member pathways
11.89 CALM1 CALM2 CALM3
34
Show member pathways
11.86 CALM1 CALM2 CALM3
35
Show member pathways
11.85 CALM1 CALM2 CALM3
36
Show member pathways
11.79 CALM1 CALM2 CALM3
37
Show member pathways
11.78 CALM1 CALM2 CALM3
38
Show member pathways
11.76 CALM1 CALM2 CALM3
39 11.76 CALM1 CALM2 CALM3
40 11.75 CALM1 CALM2 CALM3
41
Show member pathways
11.7 CALM1 CALM2 CALM3
42 11.66 CALM1 CALM2 CALM3
43
Show member pathways
11.65 CALM1 CALM2 CALM3
44 11.64 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
45 11.61 CACNA1C CALM1 CALM2 CALM3 KCNJ2
46 11.59 CACNA1C CALM1 CALM2 CALM3
47 11.56 CALM1 CALM2 CALM3
48 11.4 CACNA1C CALM1 CALM2 CALM3
49 11.39 CALM1 CALM2 CALM3
50 11.37 CALM1 CALM2 CALM3

GO Terms for Long Qt Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.99 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.85 ANK2 CAV3 KCNE1 KCNQ1
3 vesicle GO:0031982 9.81 CALM1 CALM2 CALM3 CAV3
4 Z disc GO:0030018 9.8 ANK2 CACNA1C CAV3 KCNE1 NOS1AP RYR2
5 intercalated disc GO:0014704 9.77 ANK2 CAV3 KCNJ2 SCN4B SCN5A
6 sarcomere GO:0030017 9.76 CALM1 CALM2 CALM3 RYR2
7 caveola GO:0005901 9.71 CAV3 NOS1AP SCN5A
8 calcium channel complex GO:0034704 9.71 CALM1 CALM2 CALM3 RYR2
9 sarcolemma GO:0042383 9.7 ANK2 CACNA1C CAV3 NOS1AP RYR2 SCN5A
10 spindle microtubule GO:0005876 9.67 CALM1 CALM2 CALM3
11 catalytic complex GO:1902494 9.61 CALM1 CALM2 CALM3
12 voltage-gated sodium channel complex GO:0001518 9.58 SCN4B SCN5A
13 L-type voltage-gated calcium channel complex GO:1990454 9.57 CACNA1C NOS1AP
14 inward rectifier potassium channel complex GO:1902937 9.48 KCNH2 NOS1AP
15 T-tubule GO:0030315 9.43 ANK2 CAV3 KCNJ2 KCNJ5 NOS1AP SCN5A
16 voltage-gated potassium channel complex GO:0008076 9.28 AKAP9 CALM2 CALM3 KCNE1 KCNE2 KCNH2
17 membrane GO:0016020 10.46 ALG10B ANK2 CACNA1C CAV3 KCNE1 KCNE2
18 integral component of membrane GO:0016021 10.37 ALG10B CACNA1C CAV3 KCNE1 KCNE2 KCNH2
19 plasma membrane GO:0005886 10.28 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3
20 protein-containing complex GO:0032991 10 CALM1 CALM2 CALM3 CAV3 RYR2 SNTA1

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

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.97 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.97 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
3 muscle contraction GO:0006936 9.94 CALM1 CAV3 SNTA1
4 cellular response to drug GO:0035690 9.92 KCNE2 KCNH2 KCNQ1
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.92 KCNE1 KCNH2 KCNJ2 KCNQ1 NOS1AP
6 response to calcium ion GO:0051592 9.91 CALM1 CALM2 CALM3
7 cellular response to cAMP GO:0071320 9.91 AKAP9 KCNE1 KCNQ1
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.91 ANK2 CACNA1C CALM1 CALM2 CALM3 RYR2
9 positive regulation of protein serine/threonine kinase activity GO:0071902 9.9 CALM1 CALM2 CALM3
10 substantia nigra development GO:0021762 9.9 CALM1 CALM2 CALM3
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.9 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
12 potassium ion import across plasma membrane GO:1990573 9.89 KCNE2 KCNJ2 KCNJ5
13 regulation of cytokinesis GO:0032465 9.89 CALM1 CALM2 CALM3
14 potassium ion import GO:0010107 9.89 KCNE2 KCNJ2 KCNJ5
15 potassium ion export across plasma membrane GO:0097623 9.89 KCNE1 KCNE2 KCNH2 KCNQ1
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.89 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
17 detection of calcium ion GO:0005513 9.88 CALM1 CALM2 CALM3 RYR2
18 regulation of membrane repolarization GO:0060306 9.88 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
19 regulation of cardiac muscle contraction GO:0055117 9.88 ANK2 CALM1 CALM2 CALM3 CAV3 RYR2
20 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM1 CALM2 CALM3
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.87 CACNA1C KCNJ2 SCN4B SCN5A
22 positive regulation of protein dephosphorylation GO:0035307 9.86 CALM1 CALM2 CALM3
23 positive regulation of protein autophosphorylation GO:0031954 9.86 CALM1 CALM2 CALM3
24 positive regulation of heart rate GO:0010460 9.86 KCNQ1 RYR2 TRPM4
25 potassium ion export GO:0071435 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
26 positive regulation of nitric-oxide synthase activity GO:0051000 9.85 CALM1 CALM3 NOS1AP
27 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.85 CALM1 CALM2 CALM3
28 regulation of potassium ion transmembrane transport GO:1901379 9.85 KCNE1 KCNE2 KCNH2
29 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.85 CALM1 CALM2 CALM3
30 membrane repolarization GO:0086009 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
31 membrane repolarization during action potential GO:0086011 9.85 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 CACNA1C KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
33 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.84 CALM1 CALM2 CALM3
34 regulation of cardiac muscle cell contraction GO:0086004 9.84 ANK2 KCNJ2 SCN5A
35 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
36 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.83 CALM1 CALM2 CALM3
37 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 CACNA1C RYR2 TRPM4
38 atrial cardiac muscle cell action potential GO:0086014 9.82 ANK2 KCNQ1 SCN5A
39 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.81 CALM1 CALM2 CALM3
40 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.81 CALM1 CALM2 CALM3
41 regulation of high voltage-gated calcium channel activity GO:1901841 9.8 CALM1 CALM3 NOS1AP
42 membrane depolarization during AV node cell action potential GO:0086045 9.8 CACNA1C SCN5A TRPM4
43 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.79 CALM1 CALM2 CALM3
44 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.78 CALM1 CALM2 CALM3
45 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.76 CALM1 CALM3
46 membrane depolarization during action potential GO:0086010 9.76 KCNH2 SCN5A
47 positive regulation of sodium ion transport GO:0010765 9.76 SCN4B SCN5A
48 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.76 KCNE1 KCNE2
49 calcium ion transport into cytosol GO:0060402 9.76 CACNA1C RYR2
50 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 CACNA1C RYR2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.96 CALM1 CALM2 CALM3 SCN5A
2 calmodulin binding GO:0005516 9.93 CACNA1C KCNQ1 RYR2 SCN5A SNTA1 TRPM4
3 ion channel activity GO:0005216 9.91 CACNA1C KCNH2 RYR2 SCN5A TRPM4
4 potassium channel activity GO:0005267 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated potassium channel activity GO:0005249 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
6 calcium channel activity GO:0005262 9.83 CACNA1C RYR2 TRPM4
7 scaffold protein binding GO:0097110 9.81 KCNH2 KCNQ1 SCN5A
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 regulator activity GO:0017080 9.78 CAV3 SCN4B SNTA1
11 delayed rectifier potassium channel activity GO:0005251 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
12 sodium channel activity GO:0005272 9.77 SCN4B SCN5A TRPM4
13 protein serine/threonine kinase activator activity GO:0043539 9.77 CALM1 CALM2 CALM3
14 voltage-gated ion channel activity GO:0005244 9.76 CACNA1C KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
15 protein kinase A regulatory subunit binding GO:0034237 9.73 AKAP9 KCNQ1 RYR2
16 titin binding GO:0031432 9.71 CALM1 CALM2 CALM3
17 adenylate cyclase binding GO:0008179 9.7 CALM1 CALM2 CALM3
18 protein phosphatase activator activity GO:0072542 9.67 CALM1 CALM2 CALM3
19 inward rectifier potassium channel activity GO:0005242 9.67 KCNE2 KCNH2 KCNJ2 KCNJ5
20 protein kinase A catalytic subunit binding GO:0034236 9.65 KCNQ1 RYR2
21 calcium channel inhibitor activity GO:0019855 9.65 CALM1 CALM2
22 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
23 G-protein activated inward rectifier potassium channel activity GO:0015467 9.64 KCNJ2 KCNJ5
24 nitric-oxide synthase regulator activity GO:0030235 9.64 CALM1 CALM3
25 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.63 SCN4B SCN5A
26 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.62 KCNJ5 KCNQ1
27 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNE1 KCNH2 KCNJ2 KCNQ1
28 adenylate cyclase activator activity GO:0010856 9.61 CALM1 CALM2 CALM3
29 type 3 metabotropic glutamate receptor binding GO:0031800 9.58 CALM1 CALM3
30 N-terminal myristoylation domain binding GO:0031997 9.58 CALM1 CALM2 CALM3
31 ion channel binding GO:0044325 9.44 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
32 nitric-oxide synthase binding GO:0050998 9.43 CALM1 CALM3 CAV3 NOS1AP SCN5A SNTA1
33 protein kinase binding GO:0019901 10.06 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A

Sources for Long Qt Syndrome

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
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