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LQT3
MCID: LNG048
MIFTS: 47

Long Qt Syndrome 3 (LQT3)

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

Aliases & Classifications for Long Qt Syndrome 3

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MalaCards integrated aliases for Long Qt Syndrome 3:

Name: Long Qt Syndrome 3 57 12 53 75 29 55 6 15 73
Lqt3 57 12 53 75
Long Qt Syndrome Type 3 76 73
Long Qt Syndrome-3 57 13
Qt Syndrome, Long, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 603830
Disease Ontology 12 DOID:0110646
ICD10 33 I45.8
MeSH 44 D008133
Sources

Summaries for Long Qt Syndrome 3

About this section
OMIM : 57 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). (603830)

MalaCards based summary : Long Qt Syndrome 3, also known as lqt3, is related to cardiac conduction defect and long qt syndrome 2, and has symptoms including syncope An important gene associated with Long Qt Syndrome 3 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Ranolazine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and prolonged qt interval

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.

UniProtKB/Swiss-Prot : 75 Long QT syndrome 3: 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.

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

Sources

Related Diseases for Long Qt Syndrome 3

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Diseases in the Long Qt Syndrome family:

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

Diseases related to Long Qt Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 29.8 KCNH2 KCNQ1 SCN5A
2 long qt syndrome 2 29.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 long qt syndrome 29.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
4 brugada syndrome 28.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 third-degree atrioventricular block 10.0 KCNE2 SCN5A
6 dilated cardiomyopathy 10.0
7 sinoatrial node disease 10.0
8 familial short qt syndrome 10.0 KCNH2 KCNQ1
9 brugada syndrome 1 10.0 KCNH2 SCN5A
10 epilepsy 9.9
11 long qt syndrome 13 9.9 KCNH2 KCNQ1 SCN5A
12 syncope 9.9 KCNH2 KCNQ1 SCN5A
13 benign neonatal seizures 9.8 KCNE2 KCNQ1
14 catecholaminergic polymorphic ventricular tachycardia 9.8 ANK2 KCNH2 SCN5A
15 arrhythmogenic right ventricular cardiomyopathy 9.8 ANK2 KCNH2 SCN5A
16 sudden infant death syndrome 9.8 KCNH2 KCNQ1 SCN5A
17 timothy syndrome 9.7 KCNE1 KCNH2 KCNQ1
18 heart disease 9.7 KCNE2 KCNH2 KCNQ1 SCN5A
19 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 ANK2 KCNH2 KCNQ1 SCN5A
20 cardiac arrest 9.7 ANK2 KCNH2 KCNQ1 SCN5A
21 heart conduction disease 9.6 KCNE1 KCNH2 KCNQ1 SCN5A
22 short qt syndrome 9.6 KCNE1 KCNE2 KCNH2 KCNQ1
23 long qt syndrome 12 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 jervell and lange-nielsen syndrome 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 ventricular fibrillation, paroxysmal familial, 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 atrioventricular block 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 intrinsic cardiomyopathy 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 familial atrial fibrillation 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 long qt syndrome 6 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 long qt syndrome 5 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 cardiac arrhythmia 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
32 andersen cardiodysrhythmic periodic paralysis 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 long qt syndrome 1 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
34 atrial fibrillation 9.2 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A

Graphical network of the top 20 diseases related to Long Qt Syndrome 3:



Diseases related to Long Qt Syndrome 3
Sources

Symptoms & Phenotypes for Long Qt Syndrome 3

About this section

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
prolonged qt interval on ekg
torsade de pointes


Clinical features from OMIM:

603830

Human phenotypes related to Long Qt Syndrome 3:

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

UMLS symptoms related to Long Qt Syndrome 3:


syncope

GenomeRNAi Phenotypes related to Long Qt Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.36 KCNE2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 KCNE2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 ANK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.36 ANK2 KCNE2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.36 ANK2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.36 ANK2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.36 ANK2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.36 KCNE2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.36 KCNE2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.36 ANK2
Sources

Drugs & Therapeutics for Long Qt Syndrome 3

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Drugs for Long Qt Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
2 Sodium Channel Blockers Phase 2
3 Diuretics, Potassium Sparing Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
3 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
4 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
5 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
6 Sodium Channel Splicing in Heart Failure Trial Completed NCT01185587
7 Sodium Channel Splicing in Heart Failure Trial (SOCS-HEFT) Prospective Study Recruiting NCT02738749 Not Applicable
8 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380

Search NIH Clinical Center for Long Qt Syndrome 3

Sources

Genetic Tests for Long Qt Syndrome 3

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Genetic tests related to Long Qt Syndrome 3:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 3 29 SCN5A
Sources

Anatomical Context for Long Qt Syndrome 3

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MalaCards organs/tissues related to Long Qt Syndrome 3:

41
Heart, Testes
Sources

Publications for Long Qt Syndrome 3

About this section

Articles related to Long Qt Syndrome 3:

(show all 42)
# Title Authors Year
1
Clinical aspects of the three major genetic forms of long QT syndrome (LQT1, LQT2, LQT3). ( 29504689 )
2018
2
Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients. ( 29983085 )
2018
3
Sevoflurane prolonged the QTc interval and increased transmural dispersion of repolarization in a patient with long QT syndrome 3: a case report. ( 29457073 )
2017
4
Fatal ventricular arrhythmias in a young male with unrecognized LQT3 and cardiolaminopathy. ( 28118183 )
2017
5
Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel. ( 28412158 )
2017
6
Phenotypic variability in LQT3 human induced pluripotent stem cell-derived cardiomyocytes and their response to antiarrhythmic pharmacologic therapy: An in silico approach. ( 28756098 )
2017
7
Reply to the Editor--Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients. ( 24389231 )
2014
8
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. ( 23805106 )
2013
9
Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation. ( 24098284 )
2013
10
Thinking more before deciding to implant an ICD in LQT3 patients. ( 22119263 )
2012
11
Successful treatment of a newborn with genetically confirmed long QT syndrome 3 and repetitive Torsades De Pointes tachycardia. ( 21713438 )
2011
12
Cardiomyocytes obtained from induced pluripotent stem cells with long-QT syndrome 3 recapitulate typical disease-specific features in vitro. ( 21799153 )
2011
13
A novel mechanism for LQT3 with 2:1 block: a pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation. ( 21193062 )
2011
14
Antiarrhythmic effects of free polyunsaturated fatty acids in an experimental model of LQT2 and LQT3 due to suppression of early afterdepolarizations and reduction of spatial and temporal dispersion of repolarization. ( 21459164 )
2011
15
Defining candidate drug characteristics for Long-QT (LQT3) syndrome. ( 21675815 )
2011
16
Enhancing effects of salicylate on quinidine-induced block of human wild type and LQT3 related mutant cardiac Na+ channels. ( 22033299 )
2011
17
Restoring repolarization in LQT3. ( 19121809 )
2009
18
LQT3: who is at risk for sudden cardiac death? ( 19121812 )
2009
19
Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3. ( 19167409 )
2009
20
Atrial arrhythmogenesis in wild-type and Scn5a+/delta murine hearts modelling LQT3 syndrome. ( 19184093 )
2009
21
Inhibition of the Na+/Ca2+ exchanger suppresses torsades de pointes in an intact heart model of long QT syndrome-2 and long QT syndrome-3. ( 18929333 )
2008
22
Changes in action potentials and intracellular ionic homeostasis in a ventricular cell model related to a persistent sodium current in SCN5A mutations underlying LQT3. ( 17892895 )
2008
23
Effects of flecainide and quinidine on arrhythmogenic properties of Scn5a+/Delta murine hearts modelling long QT syndrome 3. ( 17023504 )
2007
24
Effects of L-type Ca2+ channel antagonism on ventricular arrhythmogenesis in murine hearts containing a modification in the Scn5a gene modelling human long QT syndrome 3. ( 17110414 )
2007
25
Increasing gap junction coupling reduces transmural dispersion of repolarization and prevents torsade de pointes in rabbit LQT3 model. ( 17711442 )
2007
26
Acetylcholine-induced shortening of the epicardial action potential duration may increase repolarization gradients and LQT3 arrhythmic risk. ( 17993332 )
2007
27
Action potential alternans in LQT3 syndrome: a simulation study. ( 18002037 )
2007
28
Diurnal variation of ventricular repolarization in a large family with LQT3-Brugada syndrome characterized by nocturnal sudden death. ( 16500301 )
2006
29
Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmias. ( 15670972 )
2005
30
Transmural dispersion in LQT3 and arrhythmogenesis. ( 16054611 )
2005
31
Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3. ( 15136511 )
2004
32
Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. ( 15851169 )
2004
33
Delayed sodium channel inactivation mimics long QT syndrome 3. ( 12827035 )
2003
34
A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. ( 12650885 )
2003
35
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. ( 12676817 )
2003
36
Tachy- or bradyarrhythmias: implications for therapeutic intervention in LQT3 families. ( 12750302 )
2003
37
Rate-dependent QT shortening mechanism for the LQT3 deltaKPQ mutant. ( 12031708 )
2002
38
Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. ( 12069453 )
2002
39
Arrhythmogenesis of T wave alternans associated with surface QRS complex alternans and the role of ventricular prematurity: observations from a canine model of LQT3 syndrome. ( 12108505 )
2002
40
Triggers of ventricular tachyarrhythmias and therapeutic effects of nicorandil in canine models of LQT2 and LQT3 syndromes. ( 12142125 )
2002
41
Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome. ( 10716483 )
2000
42
Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome. ( 9323097 )
1997
Sources

Variations for Long Qt Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 3:

75 (show top 50) (show all 74)
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Asn1325Ser VAR_001577 rs28937317
2 SCN5A p.Arg1623Gln VAR_001578 rs137854600
3 SCN5A p.Arg1644His VAR_001579 rs28937316
4 SCN5A p.Asp1790Gly VAR_001580 rs199473317
5 SCN5A p.Asp1839Gly VAR_001581 rs199473321
6 SCN5A p.Thr1304Met VAR_008956 rs199473603
7 SCN5A p.Thr1645Met VAR_008958 rs199473288
8 SCN5A p.Glu1784Lys VAR_008959 rs137854601
9 SCN5A p.Asp1114Asn VAR_009935 rs199473195
10 SCN5A p.Leu1501Val VAR_009936 rs199473266
11 SCN5A p.Arg1623Leu VAR_009937 rs137854600
12 SCN5A p.Leu619Phe VAR_015682 rs199473133
13 SCN5A p.Ser941Asn VAR_017675 rs137854605
14 SCN5A p.Ala997Ser VAR_017676 rs137854609
15 SCN5A p.Arg1193Gln VAR_017678 rs41261344
16 SCN5A p.Arg1826His VAR_017687 rs137854610
17 SCN5A p.Tyr1795Cys VAR_019123 rs137854614
18 SCN5A p.Arg27His VAR_026341 rs199473045
19 SCN5A p.Arg367Cys VAR_026353 rs199473097
20 SCN5A p.Gly615Glu VAR_026358 rs12720452
21 SCN5A p.Glu1053Lys VAR_026368 rs137854617
22 SCN5A p.Glu1225Lys VAR_026369 rs199473204
23 SCN5A p.Phe1250Leu VAR_026372 rs45589741
24 SCN5A p.Gly9Val VAR_036660 rs199473043
25 SCN5A p.Arg225Gln VAR_036661 rs199473071
26 SCN5A p.Gly639Arg VAR_036664 rs199473136
27 SCN5A p.Ser1333Tyr VAR_036666 rs199473604
28 SCN5A p.Ser1609Trp VAR_036667 rs199473622
29 SCN5A p.Asp1819Asn VAR_036668 rs137854619
30 SCN5A p.Arg43Gln VAR_055159 rs199473047
31 SCN5A p.Leu212Pro VAR_055162 rs199473070
32 SCN5A p.Arg225Trp VAR_055164 rs199473072
33 SCN5A p.Asn406Lys VAR_055170 rs199473108
34 SCN5A p.Ala572Asp VAR_055178 rs36210423
35 SCN5A p.Arg680His VAR_055181 rs199473142
36 SCN5A p.Glu1295Lys VAR_055187 rs199473218
37 SCN5A p.Ala1330Pro VAR_055189 rs199473224
38 SCN5A p.Ala1330Thr VAR_055190 rs199473224
39 SCN5A p.Phe1473Cys VAR_055194 rs199473256
40 SCN5A p.Phe1486Leu VAR_055195 rs199473615
41 SCN5A p.Thr1620Lys VAR_055201 rs199473282
42 SCN5A p.Arg1644Cys VAR_055203 rs199473287
43 SCN5A p.Met1652Arg VAR_055205 rs199473291
44 SCN5A p.Ile1660Val VAR_055206 rs199473625
45 SCN5A p.Val1763Met VAR_055209 rs199473631
46 SCN5A p.Met1766Leu VAR_055210 rs199473310
47 SCN5A p.Ile1768Val VAR_055211 rs199473311
48 SCN5A p.Val1777Met VAR_055212 rs199473314
49 SCN5A p.Leu1825Pro VAR_055213 rs79299226
50 SCN5A p.Ser1904Leu VAR_055217 rs150264233

ClinVar genetic disease variations for Long Qt Syndrome 3:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
2 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh38 Chromosome 3, 38551441: 38551441
3 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh37 Chromosome 3, 38601909: 38601909
4 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh38 Chromosome 3, 38560418: 38560418
5 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh37 Chromosome 3, 38592996: 38592996
6 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh38 Chromosome 3, 38551505: 38551505
7 SCN5A NM_198056.2(SCN5A): c.5384A> G (p.Tyr1795Cys) single nucleotide variant Pathogenic rs137854614 GRCh37 Chromosome 3, 38592479: 38592479
8 SCN5A NM_198056.2(SCN5A): c.5384A> G (p.Tyr1795Cys) single nucleotide variant Pathogenic rs137854614 GRCh38 Chromosome 3, 38550988: 38550988
9 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh37 Chromosome 3, 38592995: 38592995
10 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh38 Chromosome 3, 38551504: 38551504
11 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
12 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
13 SCN5A NM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) duplication Pathogenic rs397514449 GRCh37 Chromosome 3, 38592476: 38592478
14 SCN5A NM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) duplication Pathogenic rs397514449 GRCh38 Chromosome 3, 38550985: 38550987
15 SCN5A NM_001099404.1(SCN5A): c.2821_2822delTCinsAA (p.Ser941Asn) indel Pathogenic rs137854605 GRCh37 Chromosome 3, 38622828: 38622829
16 SCN5A NM_001099404.1(SCN5A): c.2821_2822delTCinsAA (p.Ser941Asn) indel Pathogenic rs137854605 GRCh38 Chromosome 3, 38581337: 38581338
17 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh37 Chromosome 3, 38622661: 38622661
18 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh38 Chromosome 3, 38581170: 38581170
19 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh37 Chromosome 3, 38592386: 38592386
20 SCN5A NM_000335.4(SCN5A): c.5474G> A (p.Arg1825His) single nucleotide variant Uncertain significance rs137854610 GRCh38 Chromosome 3, 38550895: 38550895
21 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
22 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
23 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
24 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
25 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
26 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
27 SCN5A NM_001099404.1(SCN5A): c.1441C> T (p.Arg481Trp) single nucleotide variant Benign/Likely benign rs144511230 GRCh37 Chromosome 3, 38646297: 38646297
28 SCN5A NM_001099404.1(SCN5A): c.1441C> T (p.Arg481Trp) single nucleotide variant Benign/Likely benign rs144511230 GRCh38 Chromosome 3, 38604806: 38604806
29 SCN5A NM_198056.2(SCN5A): c.1571C> A (p.Ser524Tyr) single nucleotide variant Benign/Likely benign rs41313691 GRCh37 Chromosome 3, 38645522: 38645522
30 SCN5A NM_198056.2(SCN5A): c.1571C> A (p.Ser524Tyr) single nucleotide variant Benign/Likely benign rs41313691 GRCh38 Chromosome 3, 38604031: 38604031
31 SCN5A NM_198056.2(SCN5A): c.1943C> T (p.Pro648Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45609733 GRCh37 Chromosome 3, 38640489: 38640489
32 SCN5A NM_198056.2(SCN5A): c.1943C> T (p.Pro648Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45609733 GRCh38 Chromosome 3, 38598998: 38598998
33 SCN5A NM_198056.2(SCN5A): c.2770G> A (p.Val924Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199473177 GRCh37 Chromosome 3, 38627199: 38627199
34 SCN5A NM_198056.2(SCN5A): c.2770G> A (p.Val924Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199473177 GRCh38 Chromosome 3, 38585708: 38585708
35 SCN5A NM_198056.2(SCN5A): c.6010T> C (p.Phe2004Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41311117 GRCh37 Chromosome 3, 38591853: 38591853
36 SCN5A NM_198056.2(SCN5A): c.6010T> C (p.Phe2004Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41311117 GRCh38 Chromosome 3, 38550362: 38550362
37 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh37 Chromosome 3, 38647549: 38647549
38 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh38 Chromosome 3, 38606058: 38606058
39 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
40 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
41 SCN5A NM_198056.2(SCN5A): c.1604G> A (p.Arg535Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199473121 GRCh37 Chromosome 3, 38645489: 38645489
42 SCN5A NM_198056.2(SCN5A): c.1604G> A (p.Arg535Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199473121 GRCh38 Chromosome 3, 38603998: 38603998
43 SCN5A NM_000335.4(SCN5A): c.1844G> A (p.Gly615Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs12720452 GRCh37 Chromosome 3, 38645249: 38645249
44 SCN5A NM_000335.4(SCN5A): c.1844G> A (p.Gly615Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs12720452 GRCh38 Chromosome 3, 38603758: 38603758
45 SCN5A NM_000335.4(SCN5A): c.2074C> A (p.Gln692Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45553235 GRCh37 Chromosome 3, 38639408: 38639408
46 SCN5A NM_000335.4(SCN5A): c.2074C> A (p.Gln692Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45553235 GRCh38 Chromosome 3, 38597917: 38597917
47 SCN5A NM_000335.4(SCN5A): c.2497G> A (p.Gly833Arg) single nucleotide variant Uncertain significance rs45475899 GRCh37 Chromosome 3, 38627472: 38627472
48 SCN5A NM_000335.4(SCN5A): c.2497G> A (p.Gly833Arg) single nucleotide variant Uncertain significance rs45475899 GRCh38 Chromosome 3, 38585981: 38585981
49 SCN5A NM_000335.4(SCN5A): c.3908C> T (p.Thr1303Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199473603 GRCh37 Chromosome 3, 38603958: 38603958
50 SCN5A NM_000335.4(SCN5A): c.3908C> T (p.Thr1303Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199473603 GRCh38 Chromosome 3, 38562467: 38562467
Sources

Expression for Long Qt Syndrome 3

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Search GEO for disease gene expression data for Long Qt Syndrome 3.
Sources

Pathways for Long Qt Syndrome 3

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Pathways related to Long Qt Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 37
Show member pathways
 12.28 KCNE1 KCNQ1 SCN5A
2
Cardiac conduction 66
Show member pathways
 12.28 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
11.91 KCNE1 KCNE2 KCNH2 KCNQ1
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.71 KCNH2 KCNQ1 SCN5A
5
Phase 0 - rapid depolarisation 66
Show member pathways
 11.13 KCNE1 KCNE2 KCNQ1 SCN5A
6
Interaction between L1 and Ankyrins 66
10.88 ANK2 SCN5A
7
Antiarrhythmic Pathway, Pharmacodynamics 61
10.85 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
8
TarBasePathway 1
10.65 KCNE1 KCNQ1
Sources

GO Terms for Long Qt Syndrome 3

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Cellular components related to Long Qt Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 cell surface GO:0009986 9.56 KCNE1 KCNE2 KCNH2 SCN5A
3 membrane raft GO:0045121 9.54 ANK2 KCNE1 KCNQ1
4 intercalated disc GO:0014704 9.43 ANK2 SCN5A
5 T-tubule GO:0030315 9.4 ANK2 SCN5A
6 Z disc GO:0030018 9.33 ANK2 KCNE1 SCN5A
7 axon initial segment GO:0043194 9.32 ANK2 NAV1
8 lysosome GO:0005764 9.26 ANK2 KCNE1 KCNE2 KCNQ1
9 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1

Biological processes related to Long Qt Syndrome 3 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 potassium ion transport GO:0006813 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
4 regulation of ion transmembrane transport GO:0034765 9.85 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 cellular response to drug GO:0035690 9.77 KCNE2 KCNH2 KCNQ1
6 cardiac muscle contraction GO:0060048 9.75 KCNH2 KCNQ1 SCN5A
7 potassium ion export across plasma membrane GO:0097623 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
8 regulation of potassium ion transmembrane transport GO:1901379 9.72 KCNE1 KCNE2 KCNH2
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 KCNE1 KCNE2 SCN5A
10 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.7 KCNE1 KCNH2 KCNQ1
12 regulation of membrane repolarization GO:0060306 9.69 KCNE2 KCNH2 KCNQ1
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNE1 KCNH2 KCNQ1
14 potassium ion export GO:0071435 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
15 atrial cardiac muscle cell action potential GO:0086014 9.65 ANK2 KCNQ1 SCN5A
16 cellular response to cAMP GO:0071320 9.64 KCNE1 KCNQ1
17 regulation of heart rate GO:0002027 9.64 ANK2 SCN5A
18 membrane depolarization during action potential GO:0086010 9.63 KCNH2 SCN5A
19 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.63 KCNE1 KCNE2
20 regulation of heart rate by cardiac conduction GO:0086091 9.63 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21 regulation of cardiac muscle cell contraction GO:0086004 9.62 ANK2 SCN5A
22 regulation of delayed rectifier potassium channel activity GO:1902259 9.62 KCNE1 KCNE2
23 membrane repolarization GO:0086009 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNQ1 SCN5A
25 SA node cell action potential GO:0086015 9.61 ANK2 SCN5A
26 membrane depolarization during SA node cell action potential GO:0086046 9.6 ANK2 SCN5A
27 membrane repolarization during action potential GO:0086011 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
28 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 ventricular cardiac muscle cell action potential GO:0086005 9.1 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A

Molecular functions related to Long Qt Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.71 KCNE2 KCNH2 KCNQ1 SCN5A
2 potassium channel activity GO:0005267 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
3 voltage-gated potassium channel activity GO:0005249 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
4 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
5 potassium channel regulator activity GO:0015459 9.48 KCNE1 KCNE2
6 inward rectifier potassium channel activity GO:0005242 9.46 KCNE2 KCNH2
7 delayed rectifier potassium channel activity GO:0005251 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNE1 KCNH2 KCNQ1
9 ion channel binding GO:0044325 9.35 ANK2 KCNE1 KCNE2 KCNQ1 SCN5A
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.92 KCNE1 KCNE2 KCNH2 KCNQ1
Sources

Sources for Long Qt Syndrome 3

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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