MCID: LNG028
MIFTS: 63

Long Qt Syndrome

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome

MalaCards integrated aliases for Long Qt Syndrome:

Name: Long Qt Syndrome 12 72 23 49 36 28 51 41 14 37 69 59
Romano-Ward Syndrome 12 41 69
Long Q-T Syndrome 12
Lqt 12

Characteristics:

GeneReviews:

23
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 32 I45.81
ICD9CM 34 426.82
KEGG 36 H00720

Summaries for Long Qt Syndrome

NIH Rare Diseases : 49 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. Last updated: 10/4/2013

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 G-Beta Gamma Signaling and Transmission across Chemical Synapses. The drugs Estradiol and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are cardiovascular system and muscle

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

PubMed Health : 59
About long qt syndrome: Long QT syndrome (LQTS) is a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmias (ah-RITH-me-ahs) in response to exercise or stress. Arrhythmias are problems with the rate or rhythm of the heartbeat.People who have LQTS also can have arrhythmias for no known reason. However, not everyone who has LQTS has dangerous heart rhythms. When they do occur, though, they can be fatal.

Wikipedia : 72 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
Familial Long Qt Syndrome

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

(show top 50) (show all 132)
# 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 14 34.5 ANK2 CALM1
4 long qt syndrome 15 34.5 CALM1 CALM2
5 long qt syndrome 3 34.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
6 long qt syndrome 12 34.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
7 long qt syndrome 2 34.2 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 timothy syndrome 34.0 CACNA1C KCNE1 KCNH2 KCNQ1
9 familial long qt syndrome 33.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
10 long qt syndrome 5 33.7 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
11 long qt syndrome 6 33.7 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
12 andersen cardiodysrhythmic periodic paralysis 33.4 KCNE2 KCNJ2 KCNJ5 KCNQ1 RYR2 SCN5A
13 jervell and lange-nielsen syndrome 1 33.1 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
14 long qt syndrome 1 32.4 AKAP9 ANK2 CACNA1C CALM1 CALM2 CAV3
15 cardiac conduction defect 31.0 KCNH2 RYR2 SCN5A
16 atrioventricular block 30.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 cardiac arrest 30.8 CALM1 KCNQ1 RYR2 SCN5A
18 syncope 30.6 CALM1 CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
19 cardiac arrhythmia 30.5 ANK2 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
20 left ventricular noncompaction 30.5 KCNQ1 RYR2 SCN5A SNTA1
21 sudden infant death syndrome 30.4 CAV3 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
22 short qt syndrome 30.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23 ventricular fibrillation, paroxysmal familial, 1 30.3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 RYR2
24 heart disease 30.1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
25 catecholaminergic polymorphic ventricular tachycardia 30.1 ANK2 CALM1 CALM2 KCNE1 KCNE2 KCNH2
26 right bundle branch block 30.1 CACNA1C KCND3 SCN5A
27 atrial fibrillation 30.1 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 familial atrial fibrillation 29.7 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNQ1
29 brugada syndrome 29.5 AKAP9 ANK2 CACNA1C CALM2 CAV3 KCND3
30 long qt syndrome 11 12.5
31 long qt syndrome 10 12.4
32 cardiac arrhythmia, ankyrin-b-related 12.1
33 qt interval, variation in 10.9
34 3-methylglutaconic aciduria, type v 10.9
35 ventricular tachycardia, catecholaminergic polymorphic, 3 10.9
36 cardiac conduction disease with or without dilated cardiomyopathy 10.6 KCNH2 KCNQ1 SCN5A
37 familial short qt syndrome 10.6 KCNH2 KCNJ2 KCNQ1
38 acute dacryocystitis 10.5 CALM1 CALM2
39 external ear disease 10.5 CALM1 CALM2
40 deafness, autosomal dominant 2a 10.5 CALM1 CALM2 KCNQ1
41 otitis externa 10.5 CALM1 CALM2
42 cardiomyopathy, dilated, 1p 10.5 AKAP9 CALM1 CALM2
43 deafness, autosomal recessive 44 10.5 CALM1 CALM2
44 periodic paralyses 10.4 KCNE3 KCNJ2
45 otomycosis 10.4 CALM1 CALM2
46 third-degree atrioventricular block 10.4 KCNE2 SCN5A
47 hypokalemic periodic paralysis, type 1 10.3 CACNA1C KCNE3 KCNJ2
48 spontaneous ocular nystagmus 10.3 CALM1 CALM2
49 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
50 intrinsic cardiomyopathy 10.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2

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

MGI Mouse Phenotypes related to Long Qt Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CACNA1C CAV3 KCND3 KCNE3 KCNH2 KCNJ2
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: 59

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 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-28-2 5757
2
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3,Phase 1 57-63-6 5991
3
Moxifloxacin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 151096-09-2, 354812-41-2 152946
4
Norgestimate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 35189-28-7 6540478
5
Ibutilide Approved Phase 4,Phase 2 122647-31-8, 122647-32-9 60753
6
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
7
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 1 54-05-7 2719
8
Methyltestosterone Approved Phase 4 58-18-4 6010
9
Testosterone Approved, Investigational Phase 4 58-22-0 6013
10 Ramosetron Approved, Investigational Phase 4 132036-88-5
11
Primaquine Approved Phase 4 90-34-6 4908
12
Rifampin Approved Phase 4 13292-46-1 5381226 5458213
13
Corticosterone Experimental Phase 4 50-22-6 5753
14 Gastrointestinal Agents Phase 4,Phase 2,Phase 1
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
16 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
17 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1
18 Contraceptives, Oral Phase 4,Phase 2,Phase 3,Phase 1
19 Contraceptives, Oral, Combined Phase 4,Phase 2,Phase 3,Phase 1
20 Estradiol 17 beta-cypionate Phase 4,Phase 2,Phase 3,Phase 1
21 Estradiol 3-benzoate Phase 4,Phase 2,Phase 3,Phase 1
22 Estradiol valerate Phase 4,Phase 2,Phase 3,Phase 1 979-32-8
23 Fluoroquinolones Phase 4,Phase 2,Phase 3,Phase 1
24 Norgestimate, ethinyl estradiol drug combination Phase 4,Phase 2,Phase 3,Phase 1
25 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
26 Polyestradiol phosphate Phase 4,Phase 2,Phase 3,Phase 1
27 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
28 Anesthetics Phase 4,Phase 1
29 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
30 Hormone Antagonists Phase 4,Phase 2
31 Hormones Phase 4,Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
33 Progestins Phase 4,Phase 2
34 Antiemetics Phase 4,Phase 1
35 Autonomic Agents Phase 4,Phase 1
36 Neurotransmitter Agents Phase 4,Phase 1
37 Peripheral Nervous System Agents Phase 4,Phase 1
38
Serotonin Phase 4,Phase 1 50-67-9 5202
39 Serotonin Agents Phase 4,Phase 1
40 Serotonin Antagonists Phase 4,Phase 1
41 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Analgesics Phase 4,Phase 1
43 Analgesics, Non-Narcotic Phase 4,Phase 1
44 Anthelmintics Phase 4,Phase 1
45 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1
46 Antimalarials Phase 4,Phase 1
47 Antiparasitic Agents Phase 4,Phase 2,Phase 1
48 Antiprotozoal Agents Phase 4,Phase 2,Phase 1
49 Antirheumatic Agents Phase 4,Phase 1
50 Chloroquine diphosphate Phase 4,Phase 1 50-63-5

Interventional clinical trials:

(show top 50) (show all 92)

# Name Status NCT ID Phase Drugs
1 Hemodynamic Responses to Tracheal Intubation Direct Laryngoscope and Videolaryngoscope in Elderly Patients Completed NCT02816775 Phase 4
2 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
3 Ramosetron Pre-treatment for PONV and QT Prolongation Recruiting NCT03278522 Phase 4 Ramosetron
4 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
5 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)
6 DHA-PQP vs Chloroquine and Primaquine for Radical Cure of Vivax Malaria in Brazil Not yet recruiting NCT03208907 Phase 4 CQ coadministered with PQ;DHA-PQP coadministered with PQ;CQ and PQ starting on Day 42;DHA-PQP and PQ starting on Day 42
7 Pharmacokinetics and Safety of Moxifloxacin Terminated NCT01329250 Phase 4 Moxifloxacin
8 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
9 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.
10 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
11 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
12 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
13 Long QT Syndrome Screening in Newborns Recruiting NCT02412709 Phase 2
14 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2 Placebo;Ranolazine
15 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
16 Treatment With Tamoxifen in Cryptococcal Meningitis Not yet recruiting NCT03112031 Phase 2 Tamoxifen;Amphotericin B;Fluconazole
17 Comparison of Two Macrolides, Azithromycin and Erythromycin, for Symptomatic Treatment of Gastroparesis Terminated NCT01323582 Phase 2 Erythromycin;Azithromycin
18 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
19 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
20 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
21 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
22 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function Completed NCT02412098 Phase 1 Eleclazine
23 Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function Completed NCT02441829 Phase 1 Eleclazine
24 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
25 Evaluation of Possible Effects on the QT/ QTc Interval of Rupatadine in Healthy Volunteers Completed NCT00199225 Phase 1 Rupatadine;moxifloxacin
26 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
27 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
28 Genetic Sources of Variability of the Adaptation of the Ventricular Repolarisation Completed NCT00773201 Phase 1 Sotalol 80 mg
29 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
30 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
31 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1 Moxifloxacin 400 mg fasted;Moxifloxacin 400 mg fed;Placebo
32 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
33 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
34 Methadone Pharmacokinetics and Cardiac Effects in Newborns Completed NCT00715988 Phase 1 Methadone HCl Inject 10 mg/ml (will require dilution);Methadone
35 A Dose Ranging Escalation Study of Tramadol Hydrochloride in Healthy Volunteers Completed NCT01947920 Phase 1 Tramadol HCl, 50 mg;Placebo
36 Safety and Pharmacokinetics of Quinidine Alone and in Combination With Dabigatran Etexilate Completed NCT02171624 Phase 1 dabigatran etexilate;quinidine
37 A Study Evaluating Safety and Pharmacokinetics of ABBV-221 in Subjects With Advanced Solid Tumor Types Likely to Exhibit Elevated Levels of Epidermal Growth Factor Receptor Active, not recruiting NCT02365662 Phase 1 ABBV-221
38 A Study to Investigate the Effect of Single Dose of AZD6094 (600 mg) on Cardiac Repolarization in Healthy Volunteers Active, not recruiting NCT03258515 Phase 1 AZD6094 200 mg;Moxifloxacin
39 Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome Terminated NCT00839501 Phase 1 Acetazolamide
40 QT-Prolongation in Lung Transplantation Unknown status NCT02380365
41 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
42 The Effect of Erythromycin on Occurrence of Leaks From Cervical Esophageal-Gastric Anastomosis After Trans-Hiatal Esophagectomy Unknown status NCT00373919 intravenous (IV) administration of erythromycin
43 Antiarrythmic Drugs - Long-term Follow-up in the Modern Era Unknown status NCT01082055
44 Prospective Analysis Of Cardiac Function In Cirrhotic Patients By Echocardiography And Its Correlation With Events Unknown status NCT01433848
45 Typical Daily Experiences, Ischemia and Repolarization in Coronary Artery Disease Unknown status NCT01531231
46 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Completed NCT02581241
47 The Long QT Syndrome in Pregnancy Completed NCT00488254
48 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
49 Drug Interactions With Risk of QT-prolongation in a General Hospital Completed NCT02043912 Haloperidol
50 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176

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 28

Anatomical Context for Long Qt Syndrome

MalaCards organs/tissues related to Long Qt Syndrome:

38
Heart, Testes, Brain, Skin, Breast, Liver, Lung

Publications for Long Qt Syndrome

Articles related to Long Qt Syndrome:

(show top 50) (show all 1038)
# Title Authors Year
1
Type 1 long QT syndrome and psychological stress in a laboratory setting. ( 29355047 )
2018
2
Genotype-phenotype-guided medical and surgical intervention in long QT syndrome. ( 29379719 )
2018
3
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. ( 29431662 )
2018
4
A challenge for mutation specific risk stratification in long QT syndrome type 1. ( 29439887 )
2018
5
Mechanisms linking T-wave alternans to spontaneous initiation of ventricular arrhythmias in rabbit models of long QT syndrome. ( 29377142 )
2018
6
Acquired long QT syndrome and torsade de pointes. ( 29405316 )
2018
7
Abnormal Repolarization Duration during Everyday Emotional Arousal in Long QT Syndrome and Coronary Artery Disease. ( 29309742 )
2018
8
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. ( 29431731 )
2018
9
Pain medication and long QT syndrome. ( 29372020 )
2018
10
The long-QT syndrome and exercise practice: The never-ending debate. ( 29292852 )
2018
11
Acquired long QT syndrome during conditioning for allogeneic stem cell transplantation-are we aware of this side effect? ( 29427187 )
2018
12
Ryanodine-receptor inhibition by dantrolene effectively suppresses ventricular arrhythmias in an ex vivo model of long-QT syndrome. ( 29314443 )
2018
13
Significance of T-wave inversion triggered by spontaneous atrial premature beats in patients with long QT syndrome. ( 29427819 )
2018
14
Downregulation of Long Non-Coding RNA Kcnq1ot1: An Important Mechanism of Arsenic Trioxide-Induced Long QT Syndrome. ( 29339628 )
2018
15
Long-QT syndrome-associated caveolin-3 mutations differentially regulate the hyperpolarization-activated cyclic nucleotide gated channel 4. ( 28648120 )
2017
16
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. ( 28595573 )
2017
17
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
18
Potential utility of pulsed Doppler for prenatal diagnosis of fetal ventricular tachycardia secondary to long QT syndrome. ( 28741754 )
2017
19
Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia. ( 28235848 )
2017
20
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome. ( 28196901 )
2017
21
Effect of age and gender on the QTc-interval in healthy individuals and patients with long-QT syndrome. ( 28869094 )
2017
22
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
23
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. ( 28316956 )
2017
24
Contemporary Outcomes in Patients WithA Long QT Syndrome. ( 28728690 )
2017
25
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
26
Acquired long QT syndrome and phosphoinositide 3-kinase. ( 28687226 )
2017
27
Impact of presynaptic sympathetic imbalance in long-QT syndrome by positron emission tomography. ( 28864717 )
2017
28
The diagnosis and management of long QT syndrome based on fetal echocardiography. ( 28948143 )
2017
29
Allelic Complexity in Long QT Syndrome: A Family-Case Study. ( 28749435 )
2017
30
Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study. ( 28189188 )
2017
31
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. ( 27871843 )
2017
32
Molecular Pathophysiology of Congenital Long QT Syndrome. ( 27807201 )
2017
33
Cardiac Events During Competitive, Recreational, and Daily Activities in Children and Adolescents With Long QT Syndrome. ( 28935680 )
2017
34
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. ( 27765793 )
2017
35
Ten-year experience in atenolol use and exercise evaluation in children with genetically proven long QT syndrome. ( 29255512 )
2017
36
Long QT syndrome and sudden unexpected infant death. ( 28663329 )
2017
37
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. ( 28335032 )
2017
38
Evolution in Managing Long QT Syndrome: From Registries to Centers of Excellence. ( 28728691 )
2017
39
Sports participation in long QT syndrome. ( 28084960 )
2017
40
Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease. ( 28532774 )
2017
41
Acquired Long-QT Syndrome: Mild but Abnormal? ( 29225273 )
2017
42
Medical therapy for long QT syndrome. ( 28685698 )
2017
43
Successful prenatal management of ventricular tachycardia and second-degree atrioventricular block in fetal long QT syndrome. ( 28491768 )
2017
44
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? ( 28794082 )
2017
45
Congenital Long QT syndrome and torsade de pointes. ( 28670758 )
2017
46
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. ( 28944242 )
2017
47
Population-based beat-to-beat QT analysis from Holter recordings in the long QT syndrome. ( 28919217 )
2017
48
The effects of ageing and adrenergic challenge on electrocardiographic phenotypes in a murine model of long QT syndrome type 3. ( 28894151 )
2017
49
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. ( 28820736 )
2017
50
TRPM4 non-selective cation channel variants in long QT syndrome. ( 28315637 )
2017

Variations for Long Qt Syndrome

ClinVar genetic disease variations for Long Qt Syndrome:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
2 CAV3 NM_033337.2(CAV3): c.277G> A (p.Ala93Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28936686 GRCh37 Chromosome 3, 8787374: 8787374
3 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
4 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
5 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
6 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
7 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
8 DSP NM_004415.3(DSP): c.3799C> T (p.Arg1267Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121912997 GRCh37 Chromosome 6, 7580222: 7580222
9 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh37 Chromosome 12, 2614110: 2614110
10 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
11 KCNQ1 NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val) single nucleotide variant Pathogenic rs193922365 GRCh37 Chromosome 11, 2594200: 2594200
12 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
13 KCNQ1 NM_000218.2(KCNQ1): c.1017_1019delCTT (p.Phe340del) deletion Pathogenic rs397508068 GRCh37 Chromosome 11, 2604760: 2604762
14 KCNQ1 NM_000218.2(KCNQ1): c.1032+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397508070 GRCh37 Chromosome 11, 2604776: 2604776
15 KCNQ1 NM_000218.2(KCNQ1): c.1033G> C (p.Gly345Arg) single nucleotide variant Pathogenic rs199473471 GRCh37 Chromosome 11, 2606442: 2606442
16 KCNQ1 NM_000218.2(KCNQ1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic rs397508072 GRCh37 Chromosome 11, 2606475: 2606475
17 KCNQ1 NM_000218.2(KCNQ1): c.1075C> T (p.Gln359Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397508075 GRCh37 Chromosome 11, 2606484: 2606484
18 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 GRCh37 Chromosome 11, 2606494: 2606494
19 KCNQ1 NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp) single nucleotide variant Pathogenic rs199473411 GRCh37 Chromosome 11, 2606505: 2606505
20 KCNQ1 NM_000218.2(KCNQ1): c.1265delA (p.Lys422Serfs) deletion Pathogenic rs397508083 GRCh37 Chromosome 11, 2609956: 2609956
21 KCNQ1 NM_000218.2(KCNQ1): c.1343dupC (p.Glu449Argfs) duplication Pathogenic rs397508088 GRCh37 Chromosome 11, 2610034: 2610034
22 KCNQ1 NM_000218.2(KCNQ1): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs397508096 GRCh37 Chromosome 11, 2466481: 2466481
23 KCNQ1 NM_000218.2(KCNQ1): c.1559T> G (p.Met520Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199473479 GRCh37 Chromosome 11, 2790118: 2790118
24 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
25 KCNQ1 NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp) single nucleotide variant Pathogenic rs199472795 GRCh37 Chromosome 11, 2797214: 2797214
26 KCNQ1 NM_000218.2(KCNQ1): c.1637C> T (p.Ser546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473480 GRCh37 Chromosome 11, 2797236: 2797236
27 KCNQ1 NM_000218.2(KCNQ1): c.1664G> A (p.Arg555His) single nucleotide variant Pathogenic rs199472800 GRCh37 Chromosome 11, 2797263: 2797263
28 KCNQ1 NM_000218.2(KCNQ1): c.1700T> C (p.Ile567Thr) single nucleotide variant Pathogenic rs199472805 GRCh37 Chromosome 11, 2798230: 2798230
29 KCNQ1 NM_000218.2(KCNQ1): c.1781G> A (p.Arg594Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199472815 GRCh37 Chromosome 11, 2799254: 2799254
30 KCNQ1 NM_000218.2(KCNQ1): c.1893delC (p.Arg632Glufs) deletion Pathogenic rs397508104 GRCh37 Chromosome 11, 2869095: 2869095
31 KCNQ1 NM_000218.2(KCNQ1): c.1893dupC (p.Arg632Glnfs) duplication Pathogenic rs397508105 GRCh37 Chromosome 11, 2869095: 2869095
32 KCNQ1 NM_000218.2(KCNQ1): c.477+5G> A single nucleotide variant Pathogenic rs397508111 GRCh37 Chromosome 11, 2549253: 2549253
33 KCNQ1 NM_000218.2(KCNQ1): c.502G> A (p.Gly168Arg) single nucleotide variant Pathogenic rs179489 GRCh37 Chromosome 11, 2591882: 2591882
34 KCNQ1 NM_000218.2(KCNQ1): c.513C> G (p.Tyr171Ter) single nucleotide variant Pathogenic rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
35 KCNQ1 NM_000218.2(KCNQ1): c.520C> T (p.Arg174Cys) single nucleotide variant Pathogenic rs199472696 GRCh37 Chromosome 11, 2591900: 2591900
36 KCNQ1 NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs) duplication Pathogenic rs397508117 GRCh37 Chromosome 11, 2591947: 2591947
37 KCNQ1 NM_000218.2(KCNQ1): c.573_577delGCGCT (p.Arg192Cysfs) deletion Pathogenic rs397508118 GRCh37 Chromosome 11, 2591953: 2591957
38 KCNQ1 NM_000218.2(KCNQ1): c.585delG (p.Lys196Serfs) deletion Pathogenic/Likely pathogenic rs397508120 GRCh37 Chromosome 11, 2591965: 2591965
39 KCNQ1 NM_000218.2(KCNQ1): c.674C> T (p.Ser225Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473456 GRCh37 Chromosome 11, 2592624: 2592624
40 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
41 KCNQ1 NM_000218.2(KCNQ1): c.704T> A (p.Ile235Asn) single nucleotide variant Pathogenic rs199472710 GRCh37 Chromosome 11, 2593263: 2593263
42 KCNQ1 NM_000218.2(KCNQ1): c.724G> A (p.Asp242Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199472712 GRCh37 Chromosome 11, 2593283: 2593283
43 KCNQ1 NM_000218.2(KCNQ1): c.727C> T (p.Arg243Cys) single nucleotide variant Pathogenic rs199472713 GRCh37 Chromosome 11, 2593286: 2593286
44 KCNQ1 NM_000218.2(KCNQ1): c.775C> T (p.Arg259Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199472719 GRCh37 Chromosome 11, 2593334: 2593334
45 KCNQ1 NM_000218.2(KCNQ1): c.776G> A (p.Arg259His) single nucleotide variant Pathogenic rs199472720 GRCh37 Chromosome 11, 2593335: 2593335
46 KCNQ1 NM_000218.2(KCNQ1): c.797T> C (p.Leu266Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199473460 GRCh37 Chromosome 11, 2594092: 2594092
47 KCNQ1 NM_000218.2(KCNQ1): c.815G> A (p.Gly272Asp) single nucleotide variant Pathogenic rs199472726 GRCh37 Chromosome 11, 2594110: 2594110
48 KCNQ1 NM_000218.2(KCNQ1): c.830C> G (p.Ser277Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199472730 GRCh37 Chromosome 11, 2594125: 2594125
49 KCNQ1 NM_000218.2(KCNQ1): c.830C> T (p.Ser277Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199472730 GRCh37 Chromosome 11, 2594125: 2594125
50 KCNQ1 NM_000218.2(KCNQ1): c.914G> A (p.Trp305Ter) single nucleotide variant Pathogenic rs120074186 GRCh37 Chromosome 11, 2594209: 2594209

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 GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 CACNA1C CALM1 CALM2 KCNJ5 SCN4B SCN5A
2
Show member pathways
12.94 AKAP9 CALM1 CALM2 KCND2 KCND3 KCNH2
3
Show member pathways
12.89 AKAP9 CACNA1C CALM1 CALM2 CAV3 KCND2
4
Show member pathways
12.69 CACNA1C CALM1 CALM2 KCNE1 KCNJ5 KCNQ1
5
Show member pathways
12.67 CACNA1C CALM1 CALM2 KCNJ2 KCNJ5 KCNQ1
6
Show member pathways
12.64 CACNA1C CALM1 CALM2 KCNJ2 KCNJ5 RYR2
7
Show member pathways
12.46 CACNA1C CALM1 CALM2 KCNJ5 RYR2
8
Show member pathways
12.41 CACNA1C CALM1 CALM2 RYR2 SNTA1
9
Show member pathways
12.19 CACNA1C CALM1 CALM2 RYR2
10
Show member pathways
12.15 CACNA1C CALM1 CALM2 RYR2
11 12.12 AKAP9 CACNA1C CALM1 CALM2 KCND2 KCND3
12
Show member pathways
12.09 CALM1 CALM2 KCNE2 KCNJ2 KCNQ1
13 12.08 CAV3 KCNH2 KCNQ1 RYR2 SCN4B SCN5A
14
Show member pathways
12.05 KCND2 KCND3 KCNH2 KCNJ2 KCNJ5 KCNQ1
15 11.72 ANK2 CACNA1C KCND3 KCNE1 KCNE2 KCNE3
16 11.61 CACNA1C CALM1 CALM2 KCNJ2
17 11.29 CALM1 CALM2 CAV3
18
Show member pathways
11.2 AKAP9 CACNA1C CALM1 CALM2 KCNE1 KCNE2
19 11.19 ANK2 SCN4B SCN5A
20 10.97 KCNE1 KCNJ2 KCNQ1
21 10.71 CALM1 CALM2

GO Terms for Long Qt Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.95 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 plasma membrane GO:0005886 9.93 ALG10B ANK2 CACNA1C CALM1 CALM2 CAV3
3 membrane raft GO:0045121 9.83 ANK2 CAV3 KCNE1 KCNE3 KCNQ1
4 vesicle GO:0031982 9.8 CALM1 CALM2 CAV3 KCNE3
5 Z disc GO:0030018 9.8 ANK2 CACNA1C CAV3 KCNE1 RYR2 SCN5A
6 sarcolemma GO:0042383 9.77 ANK2 CAV3 KCND3 SCN5A SNTA1
7 sarcomere GO:0030017 9.69 CALM1 CALM2 RYR2
8 intercalated disc GO:0014704 9.65 ANK2 CAV3 KCNJ2 SCN4B SCN5A
9 calcium channel complex GO:0034704 9.58 CALM1 CALM2 RYR2
10 T-tubule GO:0030315 9.55 ANK2 CAV3 KCNJ2 KCNJ5 SCN5A
11 voltage-gated sodium channel complex GO:0001518 9.54 SCN4B SCN5A
12 catalytic complex GO:1902494 9.52 CALM1 CALM2
13 voltage-gated potassium channel complex GO:0008076 9.32 AKAP9 KCND2 KCND3 KCNE1 KCNE2 KCNE3
14 membrane GO:0016020 10.41 ALG10B ANK2 CACNA1C CAV3 KCND2 KCND3
15 integral component of membrane GO:0016021 10.33 ALG10B CACNA1C CAV3 KCND2 KCND3 KCNE1

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

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.98 ANK2 CACNA1C CALM1 CALM2 RYR2
2 regulation of heart rate GO:0002027 9.98 ANK2 CALM1 CALM2 CAV3 RYR2 SCN5A
3 regulation of cardiac muscle contraction GO:0055117 9.97 ANK2 CALM1 CALM2 CAV3 RYR2
4 regulation of membrane repolarization GO:0060306 9.97 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
5 membrane repolarization GO:0086009 9.96 KCND3 KCNE1 KCNE2 KCNH2 KCNQ1
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 CACNA1C KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
7 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.93 KCND3 KCNE1 KCNH2 KCNJ2 KCNQ1
8 muscle contraction GO:0006936 9.92 CALM1 CAV3 SNTA1
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.91 KCNE1 KCNH2 KCNJ2 KCNQ1
10 potassium ion export GO:0071435 9.91 KCND3 KCNE1 KCNE2 KCNH2 KCNQ1
11 cellular response to drug GO:0035690 9.9 KCNE2 KCNH2 KCNQ1
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.89 CACNA1C KCNJ2 SCN4B SCN5A
13 membrane repolarization during action potential GO:0086011 9.89 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
14 cellular response to cAMP GO:0071320 9.88 AKAP9 KCNE1 KCNQ1
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.85 KCND3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
16 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
17 potassium ion import GO:0010107 9.82 KCNE2 KCNJ2 KCNJ5
18 regulation of potassium ion transmembrane transport GO:1901379 9.82 KCNE1 KCNE2 KCNH2
19 detection of calcium ion GO:0005513 9.81 CALM1 CALM2 RYR2
20 regulation of cardiac muscle cell contraction GO:0086004 9.81 ANK2 KCNJ2 SCN5A
21 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNE1 KCNE2 KCNE3
22 atrial cardiac muscle cell action potential GO:0086014 9.8 ANK2 KCNQ1 SCN5A
23 potassium ion export across plasma membrane GO:0097623 9.79 KCND3 KCNH2 KCNQ1
24 positive regulation of sodium ion transport GO:0010765 9.74 SCN4B SCN5A
25 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.74 CALM1 CALM2
26 calcium ion transport into cytosol GO:0060402 9.74 CACNA1C RYR2
27 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.73 CALM1 CALM2
28 cellular response to epinephrine stimulus GO:0071872 9.73 KCNQ1 RYR2
29 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.73 CACNA1C RYR2
30 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.73 CALM1 CALM2
31 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.73 CACNA1C RYR2
32 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.73 CAV3 SCN5A
33 negative regulation of potassium ion transmembrane transport GO:1901380 9.72 CAV3 KCNH2
34 regulation of sodium ion transmembrane transport GO:1902305 9.72 SCN5A SNTA1
35 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.72 CALM1 CALM2
36 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.72 CALM1 CALM2
37 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 AKAP9 CAV3
38 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.71 ANK2 RYR2
39 regulation of delayed rectifier potassium channel activity GO:1902259 9.71 KCNE1 KCNE2
40 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.71 AKAP9 ANK2
41 SA node cell action potential GO:0086015 9.71 ANK2 SCN5A
42 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 KCNQ1 SCN5A
43 positive regulation of voltage-gated calcium channel activity GO:1901387 9.7 KCNE2 KCNE3
44 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.7 CALM1 CALM2
45 sarcoplasmic reticulum calcium ion transport GO:0070296 9.69 ANK2 RYR2
46 membrane depolarization during SA node cell action potential GO:0086046 9.69 ANK2 SCN5A
47 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.69 KCNJ5 KCNQ1
48 negative regulation of voltage-gated potassium channel activity GO:1903817 9.68 KCNE2 KCNE3
49 membrane depolarization during AV node cell action potential GO:0086045 9.68 CACNA1C SCN5A
50 AV node cell action potential GO:0086016 9.68 SCN4B SCN5A

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 CACNA1C KCNQ1 RYR2 SCN5A SNTA1
2 potassium channel activity GO:0005267 9.91 KCND2 KCND3 KCNE1 KCNE2 KCNE3 KCNH2
3 ion channel activity GO:0005216 9.88 CACNA1C KCND2 KCNH2 RYR2 SCN5A
4 voltage-gated potassium channel activity GO:0005249 9.87 KCND2 KCND3 KCNE1 KCNE2 KCNE3 KCNH2
5 scaffold protein binding GO:0097110 9.77 KCNH2 KCNQ1 SCN5A
6 ion channel binding GO:0044325 9.77 AKAP9 ANK2 CALM1 CALM2 CAV3 KCND3
7 potassium channel regulator activity GO:0015459 9.76 AKAP9 KCNE1 KCNE2 KCNE3
8 delayed rectifier potassium channel activity GO:0005251 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
9 sodium channel regulator activity GO:0017080 9.72 CAV3 SCN4B SNTA1
10 inward rectifier potassium channel activity GO:0005242 9.71 KCNE2 KCNH2 KCNJ2 KCNJ5
11 protein kinase A regulatory subunit binding GO:0034237 9.7 AKAP9 KCNQ1 RYR2
12 nitric-oxide synthase binding GO:0050998 9.67 CAV3 SCN5A SNTA1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.65 KCND3 KCNE1 KCNH2 KCNJ2 KCNQ1
14 titin binding GO:0031432 9.63 CALM1 CALM2
15 protein kinase A catalytic subunit binding GO:0034236 9.63 KCNQ1 RYR2
16 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCND3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
17 adenylate cyclase binding GO:0008179 9.62 CALM1 CALM2
18 calcium channel inhibitor activity GO:0019855 9.62 CALM1 CALM2
19 G-protein activated inward rectifier potassium channel activity GO:0015467 9.61 KCNJ2 KCNJ5
20 protein phosphatase activator activity GO:0072542 9.58 CALM1 CALM2
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.58 SCN4B SCN5A
22 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.57 KCNJ5 KCNQ1
23 A-type (transient outward) potassium channel activity GO:0005250 9.56 KCND2 KCND3
24 N-terminal myristoylation domain binding GO:0031997 9.54 CALM1 CALM2
25 voltage-gated ion channel activity GO:0005244 9.32 CACNA1C KCND2 KCND3 KCNE2 KCNH2 KCNJ2
26 protein binding GO:0005515 10.54 AKAP9 ANK2 CACNA1C CALM1 CALM2 CAV3
27 protein kinase binding GO:0019901 10 ANK2 CALM1 CALM2 RYR2 SCN5A

Sources for Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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