MCID: LNG047
MIFTS: 59

Long Qt Syndrome 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 54 12 50 24 71 29 14 69
Lqt2 12 50 24 71
Susceptibility to Acquired Long Qt Syndrome 2 71
Long Qt Syndrome, Acquired, Reduced 54
Long Qt Syndrome 2, Acquired 54
Long Qt Syndrome 1/2 71
Long Qt Syndrome 2/3 71
Long Qt Syndrome 2/5 71
Long Qt Syndrome 2/9 71
Long Qt Syndrome 1-2 69
Long Qt Syndrome 2-3 69
Long Qt Syndrome 2-5 69
Long Qt Syndrome 9 69
Long Qt Syndrome-2 13
Lqt1/2 71
Lqt2/3 71
Lqt2/5 71
Lqt2/9 71
Lqt 2 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
gei (gene-environment interaction) - association of cardiac events with drug administration
patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene


HPO:

32
long qt syndrome 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Long Qt Syndrome 2

OMIM : 54
Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613688)

MalaCards based summary : Long Qt Syndrome 2, also known as lqt2, is related to long qt syndrome 5 and cardiac conduction disease with or without dilated cardiomyopathy, and has symptoms including syncope, sudden cardiac death and torsade de pointes. An important gene associated with Long Qt Syndrome 2 is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and Circadian entrainment. The drugs Ibutilide and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cardiovascular system

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

UniProtKB/Swiss-Prot : 71 Long QT syndrome 2: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.

Related Diseases for Long Qt Syndrome 2

Diseases in the Long Qt Syndrome family:

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

Diseases related to Long Qt Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 long qt syndrome 5 11.2
2 cardiac conduction disease with or without dilated cardiomyopathy 10.2 KCNH2 KCNQ1 SCN5A
3 hyperaldosteronism, familial, type iii 10.2 KCNH2 KCNQ1 SCN5A
4 brugada syndrome 3 10.2 KCNE1 KCNH2 KCNQ1
5 acute poisoning by drugs with membrane-stabilizing effect 10.1 KCNH2 KCNJ2 KCNQ1
6 lipodystrophy, familial partial, type 5 10.1 KCNJ2 SCN5A
7 long qt syndrome 10.0
8 long qt syndrome-3 10.0
9 microvillus inclusion disease 9.9 KCNE2 KCNJ2 SCN5A
10 endocardium disease 9.9 KCNE2 SCN5A
11 vascular erectile tumor 9.9 KCNH2 KCNJ2 KCNQ1 SCN5A
12 umbilical hernia 9.8 KCNQ1 RYR2 SCN5A
13 chicken egg allergy 9.7 KCNQ1 RYR2 SCN5A
14 mental retardation, autosomal dominant 11 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
15 atrial fibrillation, familial, 10 9.7 KCNH2 KCNQ1 RYR2 SCN5A
16 atrial fibrillation, familial, 3 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 second-degree atrioventricular block 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 hyperphosphatemia 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 brugada syndrome 1 9.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 intellectual disability-cataracts-kyphosis syndrome 9.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
21 cone dystrophy 9.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
22 sick sinus syndrome 1 9.2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
23 vitelliform macular dystrophy 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
24 syne1-related emery-dreifuss muscular dystrophy 9.2 ANK2 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
25 xanthogranulomatous pyelonephritis 9.2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
26 prostate malignant phyllodes tumor 9.1 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
27 ventricular tachycardia, catecholaminergic polymorphic, 1 9.1 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
28 autoimmune disease of skin and connective tissue 8.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
29 keppen-lubinsky syndrome 8.5 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 acrofrontofacionasal dysostosis 8.4 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 jervell and lange-nielsen syndrome 8.0 ANK2 CD2AP KCNE1 KCNE2 KCNH2 KCNJ2
32 pigment dispersion syndrome 8.0 ANK2 CD2AP KCNE1 KCNE2 KCNH2 KCNJ2
33 zttk syndrome 7.9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34 hairy cell leukemia 7.6 ANK2 CANX KCNE1 KCNE2 KCNH2 KCNJ2
35 short qt syndrome 1 5.7 ALG10 ANK2 CANX CD2AP KCNE1 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 2:



Diseases related to Long Qt Syndrome 2

Symptoms & Phenotypes for Long Qt Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
syncope
sudden cardiac death
prolonged qt interval on ekg
torsade de pointes
ventricular fibrillation


Clinical features from OMIM:

613688

Human phenotypes related to Long Qt Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 torsade de pointes 32 HP:0001664
4 ventricular fibrillation 32 HP:0001663
5 prolonged qt interval 32 HP:0001657

UMLS symptoms related to Long Qt Syndrome 2:


syncope

GenomeRNAi Phenotypes related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.53 PIK3CD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 ANK2 CANX PIK3CD SCN5A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 ANK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 CANX PIK3CD SCN5A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.53 ANK2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.53 ANK2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.53 PIK3CD
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.53 ANK2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.53 PIK3CD
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.53 SCN5A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.53 ANK2

MGI Mouse Phenotypes related to Long Qt Syndrome 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ALG10 CD2AP KCNH2 KCNJ2 KCNQ1 PIK3CD

Drugs & Therapeutics for Long Qt Syndrome 2

Drugs for Long Qt Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 170)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
2
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
3
Methyltestosterone Approved Phase 4 58-18-4 6010
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5 Anesthetics Phase 4,Phase 1
6 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
7 Hormone Antagonists Phase 4,Phase 2
8 Hormones Phase 4,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
10 Progestins Phase 4,Phase 2
11 Anabolic Agents Phase 4
12 Androgens Phase 4
13 Antineoplastic Agents, Hormonal Phase 4,Phase 2
14 Testosterone 17 beta-cypionate Phase 4
15
Testosterone enanthate Phase 4 315-37-7 9416
16 Testosterone undecanoate Phase 4
17
Estradiol Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 50-28-2 5757
18
Ethinyl Estradiol Approved Phase 2, Phase 3,Phase 1 57-63-6 5991
19
Moxifloxacin Approved, Investigational Phase 2, Phase 3,Phase 1 354812-41-2, 151096-09-2 152946
20
Norgestimate Approved Phase 2, Phase 3,Phase 1 35189-28-7 6540478
21
Bedaquiline Approved Phase 2, Phase 3 843663-66-1
22
Clofazimine Approved, Investigational Phase 2, Phase 3 2030-63-9 2794
23
Linezolid Approved, Investigational Phase 2, Phase 3 165800-03-3 441401
24 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
25 Anti-Infective Agents Phase 2, Phase 3,Phase 1
26 Contraceptive Agents Phase 2, Phase 3,Phase 1
27 Contraceptives, Oral Phase 2, Phase 3,Phase 1
28 Contraceptives, Oral, Combined Phase 2, Phase 3,Phase 1
29 Estradiol 17 beta-cypionate Phase 2, Phase 3,Phase 1
30 Estradiol 3-benzoate Phase 2, Phase 3,Phase 1
31 Estradiol valerate Phase 2, Phase 3,Phase 1 979-32-8
32 Fluoroquinolones Phase 2, Phase 3,Phase 1
33 Norgestimate, ethinyl estradiol drug combination Phase 2, Phase 3,Phase 1
34 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
35 Polyestradiol phosphate Phase 2, Phase 3,Phase 1
36 Topoisomerase Inhibitors Phase 2, Phase 3,Phase 1
37 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
38 Antitubercular Agents Phase 2, Phase 3
39 Diarylquinolines Phase 2, Phase 3
40
Ranolazine Approved, Investigational Phase 2,Phase 1 142387-99-3, 95635-55-5 56959
41
Fluconazole Approved Phase 2 86386-73-4 3365
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Azithromycin Approved Phase 2 83905-01-5 55185 53477736 447043
44
Erythromycin Approved, Vet_approved Phase 2 114-07-8 12560
45
Menthol Approved Phase 2 2216-51-5 16666
46
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
47
Tamoxifen Approved Phase 2 10540-29-1 2733526
48 Diuretics, Potassium Sparing Phase 2,Phase 1
49 Sodium Channel Blockers Phase 2,Phase 1
50 Antifungal Agents Phase 2

Interventional clinical trials:

(show all 35)

id 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 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.
4 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
5 Long QT Syndrome Screening in Newborns Recruiting NCT02412709 Phase 2
6 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2 Placebo;Ranolazine
7 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Recruiting NCT01728025 Phase 2 Ranolazine
8 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
9 Treatment With Tamoxifen in Cryptococcal Meningitis Not yet recruiting NCT03112031 Phase 2 Tamoxifen;Amphotericin B;Fluconazole
10 Comparison of Two Macrolides, Azithromycin and Erythromycin, for Symptomatic Treatment of Gastroparesis Terminated NCT01323582 Phase 2 Erythromycin;Azithromycin
11 Race Difference Moxifloxacin-induced QT Prolongation Between Healthy Chinese and Caucasian Volunteers Unknown status NCT02119091 Phase 1 Moxifloxacin
12 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
13 QT/QTc Study of 2 Doses of ADASUVE® Completed NCT01854710 Phase 1 ADASUVE 10 mg 2 doses 2 hours apart;Oral moxifloxacin 400 mg;Staccato Placebo 2 doses 2 hours apart;Placebo (for moxifloxacin)
14 Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects Completed NCT00316459 Phase 1 ERB-041
15 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
16 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
17 Methadone Pharmacokinetics and Cardiac Effects in Newborns Completed NCT00715988 Phase 1 Methadone HCl Inject 10 mg/ml (will require dilution);Methadone
18 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
19 Food and Insulin Effect on QT/QTC Interval of ECG Completed NCT01642485 Phase 1 Moxifloxacin 400 mg fasted;Moxifloxacin 400 mg fed;Placebo
20 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 Recruiting NCT02365662 Phase 1 ABBV-221
21 A Study to Investigate the Effect of Single Dose of AZD6094 (600 mg) on Cardiac Repolarization in Healthy Volunteers Recruiting NCT03258515 Phase 1 AZD6094 200 mg;Moxifloxacin
22 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
23 Risk of QT-prolongation and Torsade de Pointes in Patients Treated With Acute Medication in a University Hospital Completed NCT02068170 Haloperidol, azi/clari/erythromycin, levo/moxifloxacin, co-trimoxazole, vori/keto/flu/itraconazole, methadone, tacrolimus, sunitinib
24 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Recruiting NCT01745666
25 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380
26 The Canadian National Long QT Syndrome Registry Recruiting NCT02425189
27 Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies Recruiting NCT03182777
28 Cortisone and QTc-Interval Recruiting NCT03082339
29 CARdiac Function Evaluation in Breast Cancer Patients Recruiting NCT03266809
30 Effect of Antenatal SSRI Exposure on the QT Interval of Neonates Recruiting NCT02492347
31 Exploring Mechanisms and Morphology of QT Interval Prolongation Enrolling by invitation NCT03291145 Beta Blockers;Spironolactone
32 Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Not yet recruiting NCT02680080 Moxifloxacin
33 Fetal and Neonatal Magnetophysiology Suspended NCT01903564
34 Infant Medical Records: Case Report Proposal Terminated NCT00268060
35 Pediatric Lead Extractability and Survival Evaluation (PLEASE) Terminated NCT00335036

Search NIH Clinical Center for Long Qt Syndrome 2

Genetic Tests for Long Qt Syndrome 2

Genetic tests related to Long Qt Syndrome 2:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 2 29 24 KCNH2

Anatomical Context for Long Qt Syndrome 2

MalaCards organs/tissues related to Long Qt Syndrome 2:

39
Heart, Testes, Bone, Breast

Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

id Title Authors Year
1
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2. ( 28741726 )
2017
2
Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes. ( 24623279 )
2014
3
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2. ( 22314138 )
2012
4
Automated perioperative QT monitoring in a patient with long QT syndrome 2. ( 20952434 )
2010
5
A common antitussive drug, clobutinol, precipitates the long QT syndrome 2. ( 15280442 )
2004

Variations for Long Qt Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 2:

71 (show top 50) (show all 116)
id Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn470Asp VAR_008578 rs121912505
2 KCNH2 p.Arg534Cys VAR_008579 rs199472916
3 KCNH2 p.Ala561Val VAR_008580 rs121912504
4 KCNH2 p.Arg582Cys VAR_008581 rs121912508
5 KCNH2 p.Ile593Arg VAR_008582 rs28928904
6 KCNH2 p.Gly628Ser VAR_008583 rs121912507
7 KCNH2 p.Val822Met VAR_008584 rs121912506
8 KCNH2 p.Phe29Leu VAR_008907 rs199472830
9 KCNH2 p.Asn33Thr VAR_008908 rs199473487
10 KCNH2 p.Gly53Arg VAR_008909 rs199472842
11 KCNH2 p.Arg56Gln VAR_008910 rs199472845
12 KCNH2 p.Cys66Gly VAR_008911 rs199473416
13 KCNH2 p.His70Arg VAR_008912 rs199473419
14 KCNH2 p.Ala78Pro VAR_008913 rs199472848
15 KCNH2 p.Leu86Arg VAR_008914 rs199472851
16 KCNH2 p.Arg176Trp VAR_008915 rs36210422
17 KCNH2 p.Thr436Met VAR_008916 rs199472901
18 KCNH2 p.Thr474Ile VAR_008917 rs199472906
19 KCNH2 p.Leu552Ser VAR_008918 rs199472918
20 KCNH2 p.Ala558Pro VAR_008919 rs121912516
21 KCNH2 p.Leu564Pro VAR_008920 rs199472924
22 KCNH2 p.Tyr569His VAR_008921 rs199473520
23 KCNH2 p.Gly572Arg VAR_008922 rs9333649
24 KCNH2 p.Gly572Cys VAR_008923 rs9333649
25 KCNH2 p.Gly584Ser VAR_008924 rs199473428
26 KCNH2 p.Asn588Asp VAR_008925 rs199473431
27 KCNH2 p.Gly601Ser VAR_008926 rs199472936
28 KCNH2 p.Gly604Ser VAR_008927 rs199473522
29 KCNH2 p.Tyr611His VAR_008928 rs199472942
30 KCNH2 p.Val612Leu VAR_008929 rs199472943
31 KCNH2 p.Thr613Met VAR_008930 rs199473524
32 KCNH2 p.Ala614Val VAR_008931 rs199472944
33 KCNH2 p.Asn629Asp VAR_008932 rs199472956
34 KCNH2 p.Asn629Lys VAR_008933 rs41307295
35 KCNH2 p.Val630Leu VAR_008934 rs199472958
36 KCNH2 p.Val630Ala VAR_008935 rs199473526
37 KCNH2 p.Asn633Ser VAR_008936 rs199472961
38 KCNH2 p.Phe640Leu VAR_008937 rs199472970
39 KCNH2 p.Ser818Leu VAR_008938 rs121912510
40 KCNH2 p.Asn629Ser VAR_009179 rs199472957
41 KCNH2 p.Gly47Val VAR_009909 rs199473490
42 KCNH2 p.Pro347Ser VAR_009912 rs138776684
43 KCNH2 p.Arg531Gln VAR_009913 rs199473515
44 KCNH2 p.Ile593Thr VAR_009915 rs28928904
45 KCNH2 p.Asp609Asn VAR_009916 rs199472941
46 KCNH2 p.Thr65Pro VAR_014371 rs28933095
47 KCNH2 p.Pro451Leu VAR_014373 rs199472902
48 KCNH2 p.Ala561Thr VAR_014374 rs199472921
49 KCNH2 p.Leu615Val VAR_014375 rs199472945
50 KCNH2 p.Gly626Ser VAR_014376 rs199472953

ClinVar genetic disease variations for Long Qt Syndrome 2:

6 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
2 ALG10 NM_032834.3(ALG10): c.1339G> A (p.Val447Ile) single nucleotide variant risk factor rs121908850 GRCh37 Chromosome 12, 34179767: 34179767
3 SNTA1 NM_003098.2(SNTA1): c.1169C> T (p.Ala390Val) single nucleotide variant Pathogenic/Likely pathogenic rs121434500 GRCh37 Chromosome 20, 31998009: 31998009
4 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
5 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
6 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh37 Chromosome 7, 150649662: 150649662
7 KCNH2 KCNH2, IVS3DS, G-C, +1 single nucleotide variant Pathogenic
8 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh37 Chromosome 7, 150648703: 150648703
9 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
10 KCNH2 KCNH2, 27-BP DEL deletion Pathogenic
11 KCNH2 KCNH2, 1-BP DEL deletion Pathogenic
12 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912507 GRCh37 Chromosome 7, 150648599: 150648599
13 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
14 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 GRCh37 Chromosome 7, 150648767: 150648767
15 KCNH2 NM_000238.3(KCNH2): c.3003G> A (p.Trp1001Ter) single nucleotide variant Pathogenic rs121912509 GRCh37 Chromosome 7, 150644565: 150644565
16 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
17 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh37 Chromosome 7, 150671913: 150671913
18 KCNH2 KCNH2, 1-BP INS, 2775G insertion Pathogenic
19 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh37 Chromosome 7, 150645954: 150645954
20 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh37 Chromosome 7, 150648809: 150648809
21 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
22 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh37 Chromosome 7, 150648650: 150648650
23 KCNH2 NM_000238.3(KCNH2): c.1352C> T (p.Pro451Leu) single nucleotide variant Likely pathogenic rs199472902 GRCh37 Chromosome 7, 150649718: 150649718
24 KCNH2 NM_000238.3(KCNH2): c.1655T> C (p.Leu552Ser) single nucleotide variant Pathogenic rs199472918 GRCh37 Chromosome 7, 150648826: 150648826
25 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic rs199473428 GRCh37 Chromosome 7, 150648731: 150648731
26 KCNH2 NM_000238.3(KCNH2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic rs199472936 GRCh37 Chromosome 7, 150648680: 150648680
27 KCNH2 NM_000238.3(KCNH2): c.1876G> A (p.Gly626Ser) single nucleotide variant Likely pathogenic rs199472953 GRCh37 Chromosome 7, 150648605: 150648605
28 KCNH2 NM_000238.3(KCNH2): c.1920C> A (p.Phe640Leu) single nucleotide variant Pathogenic rs199472970 GRCh37 Chromosome 7, 150648561: 150648561
29 KCNH2 NM_000238.3(KCNH2): c.2320G> T (p.Asp774Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs199472995 GRCh37 Chromosome 7, 150647334: 150647334
30 KCNH2 NM_000238.3(KCNH2): c.2509G> A (p.Asp837Asn) single nucleotide variant Likely pathogenic rs199473005 GRCh37 Chromosome 7, 150646027: 150646027
31 KCNH2 NM_000238.3(KCNH2): c.526C> T (p.Arg176Trp) single nucleotide variant risk factor rs36210422 GRCh37 Chromosome 7, 150655537: 150655537
32 KCNH2 NM_000238.3(KCNH2): c.916G> C (p.Gly306Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199472884 GRCh37 Chromosome 7, 150655147: 150655147
33 KCNH2 NM_000238.3(KCNH2): c.656A> T (p.Asp219Val) single nucleotide variant Pathogenic rs587777907 GRCh38 Chromosome 7, 150958319: 150958319
34 KCNH2 NM_000238.3(KCNH2): c.2230C> T (p.Arg744Ter) single nucleotide variant Pathogenic rs189014161 GRCh38 Chromosome 7, 150950336: 150950336
35 KCNH2 NM_000238.3(KCNH2): c.842dupG (p.Ala282Argfs) duplication Likely pathogenic rs730880374 GRCh37 Chromosome 7, 150655221: 150655221
36 KCNH2 NM_000238.3(KCNH2): c.685G> T (p.Glu229Ter) single nucleotide variant Pathogenic rs730880116 GRCh37 Chromosome 7, 150655378: 150655378
37 KCNH2 NM_000238.3(KCNH2): c.453delC (p.Thr152Profs) deletion Pathogenic rs767521596 GRCh38 Chromosome 7, 150959591: 150959591
38 KCNH2 NM_000238.3(KCNH2): c.1786C> G (p.Pro596Ala) single nucleotide variant Pathogenic rs863225288 GRCh37 Chromosome 7, 150648695: 150648695
39 KCNH2 NM_000238.3(KCNH2): c.2587C> T (p.Arg863Ter) single nucleotide variant Pathogenic rs773724817 GRCh37 Chromosome 7, 150645949: 150645949
40 KCNH2 NM_000238.3(KCNH2): c.1888G> A (p.Val630Ile) single nucleotide variant Likely pathogenic rs199472958 GRCh38 Chromosome 7, 150951505: 150951505
41 KCNH2 NM_172056.2(KCNH2): c.1874T> C (p.Val625Ala) single nucleotide variant Likely pathogenic rs199472951 GRCh38 Chromosome 7, 150951519: 150951519
42 KCNH2 NM_000238.3(KCNH2): c.1402dupC (p.Leu468Profs) duplication Likely pathogenic rs869025448 GRCh38 Chromosome 7, 150952580: 150952580
43 KCNH2 NM_000238.3(KCNH2): c.774dupC (p.Asp259Argfs) duplication Likely pathogenic rs869025447 GRCh38 Chromosome 7, 150958201: 150958201
44 KCNH2 NM_000238.3(KCNH2): c.1238T> G (p.Leu413Arg) single nucleotide variant Likely pathogenic rs199472893 GRCh37 Chromosome 7, 150649832: 150649832
45 KCNH2 NM_000238.3(KCNH2): c.2038delG (p.Val680Cysfs) deletion Pathogenic GRCh37 Chromosome 7, 150648116: 150648116
46 KCNH2 NM_000238.3(KCNH2): c.1952T> G (p.Met651Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 150951114: 150951114
47 KCNH2 NM_000238.3(KCNH2): c.2675_2679dup (p.Arg894Alafs) duplication Likely pathogenic rs1131692183 GRCh37 Chromosome 7, 150645545: 150645549
48 KCNH2 NM_000238.3(KCNH2): c.2935_2939delAAGAG (p.Lys979Glnfs) deletion Pathogenic rs1131692327 GRCh37 Chromosome 7, 150644720: 150644724
49 KCNH2 NG_008916.1: g.35262_35536dup duplication Pathogenic GRCh37 Chromosome 7, 150644479: 150644753

Expression for Long Qt Syndrome 2

Search GEO for disease gene expression data for Long Qt Syndrome 2.

Pathways for Long Qt Syndrome 2

Pathways related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 KCNE1 KCNJ2 KCNQ1 RYR2 SCN5A
2
Show member pathways
12.45 KCNJ2 KCNQ1 PIK3CD RYR2
3
Show member pathways
12.43 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
4 11.92 KCNH2 KCNQ1 RYR2 SCN5A
5
Show member pathways
11.85 KCNE2 KCNJ2 KCNQ1
6
Show member pathways
11.84 KCNH2 KCNH6 KCNJ2 KCNQ1
7 11.79 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1
8
Show member pathways
11.43 KCNE1 KCNE2 KCNQ1 SCN5A
9 10.97 ANK2 SCN5A
10 10.97 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
11 10.78 KCNE1 KCNJ2 KCNQ1

GO Terms for Long Qt Syndrome 2

Cellular components related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.76 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.65 ANK2 KCNE1 KCNQ1
3 intercalated disc GO:0014704 9.54 ANK2 KCNJ2 SCN5A
4 T-tubule GO:0030315 9.5 ANK2 KCNJ2 SCN5A
5 Z disc GO:0030018 9.46 ANK2 KCNE1 RYR2 SCN5A
6 smooth endoplasmic reticulum GO:0005790 9.13 CANX KCNJ2 RYR2
7 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 membrane GO:0016020 10.17 ALG10 ANK2 CANX KCNE1 KCNE2 KCNH2
9 integral component of membrane GO:0016021 10.1 ALG10 CANX KCNE1 KCNE2 KCNH2 KCNH6
10 plasma membrane GO:0005886 10 ANK2 CD2AP KCNE1 KCNE2 KCNH2 KCNH6

Biological processes related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.99 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1
2 regulation of ion transmembrane transport GO:0034765 9.91 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1
3 cardiac muscle contraction GO:0060048 9.87 KCNH2 KCNQ1 RYR2 SCN5A
4 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 KCNE1 KCNE2 KCNJ2 SCN5A
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
6 cellular response to drug GO:0035690 9.83 KCNE2 KCNH2 KCNQ1
7 regulation of membrane repolarization GO:0060306 9.8 KCNE2 KCNH2 KCNJ2 KCNQ1
8 cardiac conduction GO:0061337 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
9 regulation of heart rate GO:0002027 9.78 ANK2 RYR2 SCN5A
10 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
11 regulation of cardiac muscle cell contraction GO:0086004 9.76 ANK2 KCNJ2 SCN5A
12 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.76 KCNE1 KCNH2 KCNJ2 KCNQ1
13 atrial cardiac muscle cell action potential GO:0086014 9.75 ANK2 KCNQ1 SCN5A
14 potassium ion export GO:0071435 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
16 membrane depolarization during action potential GO:0086010 9.68 KCNH2 SCN5A
17 potassium ion import GO:0010107 9.68 KCNE2 KCNJ2
18 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.68 ANK2 RYR2
19 regulation of cardiac muscle contraction GO:0055117 9.68 ANK2 RYR2
20 positive regulation of heart rate GO:0010460 9.67 KCNQ1 RYR2
21 cellular response to epinephrine stimulus GO:0071872 9.67 KCNQ1 RYR2
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 KCNJ2 SCN5A
23 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.66 KCNE1 KCNE2
24 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.65 ANK2 RYR2
25 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE1 KCNE2
26 membrane repolarization GO:0086009 9.65 KCNE1 KCNE2 KCNQ1
27 membrane repolarization during action potential GO:0086011 9.65 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 SA node cell action potential GO:0086015 9.64 ANK2 SCN5A
29 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 KCNQ1 SCN5A
30 membrane depolarization during SA node cell action potential GO:0086046 9.63 ANK2 SCN5A
31 sarcoplasmic reticulum calcium ion transport GO:0070296 9.63 ANK2 RYR2
32 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.63 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
34 regulation of atrial cardiac muscle cell action potential GO:0098910 9.61 ANK2 RYR2
35 regulation of SA node cell action potential GO:0098907 9.6 ANK2 RYR2
36 regulation of heart rate by cardiac conduction GO:0086091 9.5 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
37 ventricular cardiac muscle cell action potential GO:0086005 9.17 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
38 transport GO:0006810 10.22 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1
39 ion transport GO:0006811 10.16 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1
40 transmembrane transport GO:0055085 10.06 KCNH2 KCNH6 KCNQ1 RYR2 SCN5A
41 potassium ion transmembrane transport GO:0071805 10 KCNE1 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1

Molecular functions related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.8 ANK2 KCNE2 KCNQ1 RYR2 SCN5A
2 potassium channel activity GO:0005267 9.77 KCNE1 KCNE2 KCNH2 KCNH6 KCNQ1
3 calmodulin binding GO:0005516 9.7 KCNQ1 RYR2 SCN5A
4 ion channel activity GO:0005216 9.67 KCNH2 RYR2 SCN5A
5 voltage-gated potassium channel activity GO:0005249 9.65 KCNE1 KCNE2 KCNH2 KCNH6 KCNQ1
6 scaffold protein binding GO:0097110 9.63 KCNH2 KCNQ1 SCN5A
7 voltage-gated ion channel activity GO:0005244 9.63 KCNE2 KCNH2 KCNH6 KCNJ2 KCNQ1 SCN5A
8 delayed rectifier potassium channel activity GO:0005251 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
9 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNH2 KCNJ2
10 potassium channel regulator activity GO:0015459 9.54 KCNE1 KCNE2
11 protein kinase A regulatory subunit binding GO:0034237 9.51 KCNQ1 RYR2
12 protein kinase A catalytic subunit binding GO:0034236 9.48 KCNQ1 RYR2
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1

Sources for Long Qt Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....