LQT3
MCID: LNG048
MIFTS: 56

Long Qt Syndrome 3 (LQT3)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 3

MalaCards integrated aliases for Long Qt Syndrome 3:

Name: Long Qt Syndrome 3 57 11 19 73 28 53 5 43 14 71
Lqt3 57 11 19 73
Long Qt Syndrome Type 3 75 71
Qt Syndrome, Long, Type 3 38
Long Qt Syndrome-3 12

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0110646
OMIM® 57 603830
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
UMLS 71 C1859062 C2931401

Summaries for Long Qt Syndrome 3

GARD: 19 Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

MalaCards based summary: Long Qt Syndrome 3, also known as lqt3, is related to long qt syndrome 6 and brugada syndrome 1, 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 Activation of cAMP-Dependent PKA and Cardiac conduction. The drugs Ranolazine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and heart-ventricle, and related phenotypes are sudden cardiac death and prolonged qtc interval

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2.

Wikipedia: 75 Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more...

Related Diseases for Long Qt Syndrome 3

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
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 6 31.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 brugada syndrome 1 30.5 SCN5A RYR2 NAV1 LOC110121269 KCNH2
3 familial long qt syndrome 30.5 SCN5A KCNQ1 KCNH2 KCNE1
4 syncope 30.2 SCN5A RYR2 KCNQ1 KCNH2
5 progressive familial heart block, type ia 30.2 SCN5A ANK2
6 progressive familial heart block 30.1 SCN5A SCN1B KCNQ1
7 ventricular fibrillation, paroxysmal familial, 1 30.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
8 cardiac conduction defect 29.9 SCN5A SCN1B RYR2 KCNQ1 CACNA1C
9 atrioventricular block 29.8 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
10 cardiac arrest 29.6 TRDN SCN5A RYR2 KCNQ1 KCNH2 CASQ2
11 right bundle branch block 29.6 SCN5A SCN3B SCN1B RYR2 KCNH2 CACNA1C
12 sick sinus syndrome 29.6 SCN5A SCN3B SCN1B RYR2 KCNE1 CACNA1C
13 heart disease 29.0 TRDN SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
14 sinoatrial node disease 29.0 SCN5A SCN3B SCN1B RYR2 KCNQ1 KCNJ2
15 dilated cardiomyopathy 28.0 TRDN SNTA1 SCN5A SCN4B SCN3B SCN1B
16 long qt syndrome 28.0 TRDN SNTA1 SCN5A SCN4B SCN4A SCN3B
17 long qt syndrome 2 27.7 TRDN SNTA1 SCN5A SCN4B SCN3B SCN1B
18 long qt syndrome 1 27.6 TRDN SNTA1 SCN5A SCN4B SCN4A SCN3B
19 brugada syndrome 27.1 TRDN SNTA1 SCN5A SCN4B SCN4A SCN3B
20 periodic paralysis 10.3 SCN4A KCNJ2
21 atrial fibrillation, familial, 10 10.3 SCN5A LOC110121269
22 familial short qt syndrome 10.2 KCNQ1 KCNJ2 KCNH2
23 first-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2
24 familial progressive cardiac conduction defect 10.2 SCN5A SCN1B
25 developmental and epileptic encephalopathy 14 10.2 SCN5A KCNQ1 KCNH2
26 deafness, autosomal recessive 98 10.2 KCNQ1 KCNE2 KCNE1
27 second-degree atrioventricular block 10.2 SCN5A SCN3B KCNH2
28 immunodeficiency 14a, autosomal dominant 10.2
29 immunodeficiency 14 10.2
30 brugada syndrome 3 10.2 KCNE2 CACNA1C ANK2
31 trichothiodystrophy 7, nonphotosensitive 10.2 SCN5A KCNH2
32 diamond-blackfan anemia 3 10.2 SCN5A SCN4A KCNH2
33 brugada syndrome 5 10.2 SCN5A SCN1B
34 anhidrosis, isolated, with normal sweat glands 10.1 RYR2 CACNA1C
35 developmental and epileptic encephalopathy 13 10.1 SCN1B NAV1
36 benign familial neonatal epilepsy 10.1 SCN1B KCNQ1 KCNE1
37 noonan syndrome with multiple lentigines 10.1 SCN5A RYR2 KCNQ1 KCNH2
38 left bundle branch hemiblock 10.1 SCN5A RYR2
39 migraine, familial hemiplegic, 3 10.1 SCN5A SCN4A NAV1
40 congestive heart failure 10.1 SCN5A KCNQ1 KCNJ2 KCNE2
41 hypokalemia 10.1 SCN4A KCNQ1 KCNH2
42 paine syndrome 10.1 SCN5A SCN4A NAV1
43 wolff-parkinson-white syndrome 10.1 SCN5A KCNQ1 KCNH2 CASQ2
44 brugada syndrome 4 10.1 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
45 fanconi anemia, complementation group e 10.1
46 brugada syndrome 9 10.1
47 common cold 10.1
48 progressive familial heart block, type ib 10.0
49 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 TRDN RYR2
50 isolated elevated serum creatine phosphokinase levels 10.0 SCN5A SCN4A CAV3 CACNA1C

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



Diseases related to Long Qt Syndrome 3

Symptoms & Phenotypes for Long Qt Syndrome 3

Human phenotypes related to Long Qt Syndrome 3:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 30 Very rare (1%) HP:0001645
2 prolonged qtc interval 30 Very rare (1%) HP:0005184
3 torsade de pointes 30 Very rare (1%) HP:0001664
4 nonimmune hydrops fetalis 30 Very rare (1%) HP:0001790
5 ventricular flutter 30 Very rare (1%) HP:0011841
6 syncope 30 HP:0001279
7 ventricular fibrillation 30 HP:0001663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

603830 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 3:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.17 ANK2 CACNA1C CASQ2 CAV3 KCNE1 KCNH2
2 homeostasis/metabolism MP:0005376 10.1 AKAP9 ANK2 CACNA1C CASQ2 CAV3 KCNE1
3 growth/size/body region MP:0005378 10.03 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
4 cardiovascular system MP:0005385 9.73 ANK2 CACNA1C CASQ2 CAV3 KCNE1 KCNH2
5 behavior/neurological MP:0005386 9.44 ANK2 CACNA1C KCNE1 KCNJ2 KCNQ1 NAV1

Drugs & Therapeutics for Long Qt Syndrome 3

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 A Phase 3, Single-Blind Study to Evaluate the Effect of Eleclazine (GS-6615) on Shortening of the QT Interval, Safety, and Tolerability in Subjects 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 of Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
4 Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death Recruiting NCT02014961

Search NIH Clinical Center for Long Qt Syndrome 3

Cochrane evidence based reviews: long qt syndrome 3

Genetic Tests for Long Qt Syndrome 3

Genetic tests related to Long Qt Syndrome 3:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 3 28 SCN5A

Anatomical Context for Long Qt Syndrome 3

Organs/tissues related to Long Qt Syndrome 3:

MalaCards : Heart, Endothelial
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 3

Articles related to Long Qt Syndrome 3:

(show top 50) (show all 476)
# Title Authors PMID Year
1
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 53 62 57 5
18451998 2008
2
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 57 5
15840476 2005
3
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 62 57 5
7889574 1995
4
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57 5
16922724 2006
5
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 57 5
15184283 2004
6
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 57 5
11410597 2001
7
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 57 5
10590249 1999
8
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 57 5
8541846 1995
9
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 62 5
19841300 2009
10
Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617. 62 5
15665061 2005
11
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. 62 57
12676817 2003
12
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 62 5
10772658 2000
13
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 62 5
10508990 1999
14
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 62 5
10377081 1999
15
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 62 57
9753711 1998
16
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 62 5
9506831 1998
17
Molecular mechanism for an inherited cardiac arrhythmia. 62 5
7651517 1995
18
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. 5
35535697 2022
19
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
20
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 5
27041150 2016
21
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 5
24784157 2014
22
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 5
24871449 2014
23
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 5
22840528 2012
24
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. 5
22685113 2012
25
High prevalence of genetic variants previously associated with LQT syndrome in new exome data. 5
22378279 2012
26
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 5
21321465 2011
27
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. 5
20539757 2010
28
Letter by O'Rourke regarding articles, "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome," "Cardiac sodium channel dysfunction in sudden infant death syndrome," and "Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?". 5
17646591 2007
29
Cardiac sodium channel dysfunction in sudden infant death syndrome. 5
17210841 2007
30
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 5
16325048 2005
31
Novel Brugada SCN5A mutation causing sudden death in children. 5
15840483 2005
32
Compound mutations: a common cause of severe long-QT syndrome. 57
15051636 2004
33
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 5
14523039 2003
34
Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome. 57
12417563 2002
35
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. 5
11889015 2002
36
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 5
11710892 2001
37
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 5
10973849 2000
38
A molecular link between the sudden infant death syndrome and the long-QT syndrome. 5
10911008 2000
39
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 5
10727653 2000
40
Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. 5
10448858 1999
41
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
42
Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. 57
7956363 1995
43
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. 53 62
17110414 2007
44
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. 53 62
16707561 2006
45
Exploring mutation specific beta blocker pharmacology of the pathogenic late sodium channel current from patient-specific pluripotent stem cell myocytes derived from long QT syndrome mutation carriers. 62
35949058 2022
46
Binding characteristics of calpastatin domain L to NaV1.5 sodium channel and its IQ motif mutants. 62
36007333 2022
47
Verification of the Efficacy of Mexiletine Treatment for the A1656D Mutation on Downgrading Reentrant Tachycardia Using a 3D Cardiac Electrophysiological Model. 62
36290499 2022
48
Same family, same mutation, different ECG. 62
36305573 2022
49
Coupling the Cardiac Voltage-Gated Sodium Channel to Channelrhodopsin-2 Generates Novel Optical Switches for Action Potential Studies. 62
36295666 2022
50
Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia. 62
35194886 2022

Variations for Long Qt Syndrome 3

ClinVar genetic disease variations for Long Qt Syndrome 3:

5 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN5A NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) SNV Pathogenic
9376 rs137854600 GRCh37: 3:38592995-38592995
GRCh38: 3:38551504-38551504
2 SCN5A NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) DUP Pathogenic
9382 rs397514449 GRCh37: 3:38592475-38592476
GRCh38: 3:38550984-38550985
3 LOC110121269, SCN5A NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) INDEL Pathogenic
9384 rs137854605 GRCh37: 3:38622828-38622829
GRCh38: 3:38581337-38581338
4 LOC110121269, SCN5A NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) SNV Pathogenic
9388 rs137854609 GRCh37: 3:38622661-38622661
GRCh38: 3:38581170-38581170
5 SCN5A NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) SNV Pathogenic
446418 rs199473310 GRCh37: 3:38592567-38592567
GRCh38: 3:38551076-38551076
6 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic
Pathogenic
39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
7 SCN5A NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val) SNV Pathogenic
978725 rs794728929 GRCh37: 3:38627487-38627487
GRCh38: 3:38585996-38585996
8 SCN5A NM_000335.5(SCN5A):c.4242+1G>C SNV Pathogenic
201508 rs794728879 GRCh37: 3:38601637-38601637
GRCh38: 3:38560146-38560146
9 SCN5A NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) DEL Pathogenic
201571 rs397514251 GRCh37: 3:38597162-38597170
GRCh38: 3:38555671-38555679
10 SCN5A NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) SNV Pathogenic
9369 rs28937316 GRCh37: 3:38592932-38592932
GRCh38: 3:38551441-38551441
11 SCN5A NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) SNV Pathogenic
9370 rs28937317 GRCh37: 3:38601909-38601909
GRCh38: 3:38560418-38560418
12 SCN5A NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) SNV Pathogenic
9375 rs137854614 GRCh37: 3:38592479-38592479
GRCh38: 3:38550988-38550988
13 SCN5A NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) SNV Pathogenic
9389 rs137854610 GRCh37: 3:38592386-38592386
GRCh38: 3:38550895-38550895
14 SCN5A NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic
67651 rs72549410 GRCh37: 3:38647549-38647549
GRCh38: 3:38606058-38606058
15 SCN5A NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) SNV Pathogenic
207974 rs370694515 GRCh37: 3:38592170-38592170
GRCh38: 3:38550679-38550679
16 SCN5A NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) SNV Pathogenic
9374 rs137854613 GRCh37: 3:38592996-38592996
GRCh38: 3:38551505-38551505
17 SCN5A NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) SNV Pathogenic
201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
18 SCN5A NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic
67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
19 SCN5A NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) SNV Pathogenic
9401 rs137854618 GRCh37: 3:38607917-38607917
GRCh38: 3:38566426-38566426
20 SCN5A NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) SNV Pathogenic
67980 rs199473311 GRCh37: 3:38592561-38592561
GRCh38: 3:38551070-38551070
21 SCN5A NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) SNV Pathogenic
67672 rs199473121 GRCh37: 3:38645489-38645489
GRCh38: 3:38603998-38603998
22 SCN5A NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) SNV Pathogenic
68032 rs199473072 GRCh37: 3:38655264-38655264
GRCh38: 3:38613773-38613773
23 SCN5A NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) SNV Pathogenic
67838 rs199473220 GRCh37: 3:38603913-38603913
GRCh38: 3:38562422-38562422
24 SCN5A NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) SNV Pathogenic
201438 rs794728849 GRCh37: 3:38655273-38655273
GRCh38: 3:38613782-38613782
25 SCN5A NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) SNV Pathogenic
587531 rs765669597 GRCh37: 3:38655554-38655554
GRCh38: 3:38614063-38614063
26 SCN5A NM_000335.5(SCN5A):c.1338+2T>A SNV Pathogenic
189324 rs786204839 GRCh37: 3:38647440-38647440
GRCh38: 3:38605949-38605949
27 SCN5A NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) SNV Pathogenic
924596 rs1553607597 GRCh37: 3:38674672-38674672
GRCh38: 3:38633181-38633181
28 SCN5A NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) MICROSAT Pathogenic/Likely Pathogenic
201572 rs749697698 GRCh37: 3:38593011-38593013
GRCh38: 3:38551520-38551522
29 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic/Likely Pathogenic
9377 rs137854601 GRCh37: 3:38592513-38592513
GRCh38: 3:38551022-38551022
30 SCN5A NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely Pathogenic
67667 rs199473119 GRCh37: 3:38645526-38645526
GRCh38: 3:38604035-38604035
31 SCN5A NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) SNV Likely Pathogenic
67933 rs137854600 GRCh37: 3:38592995-38592995
GRCh38: 3:38551504-38551504
32 SCN5A NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) SNV Likely Pathogenic
216840 rs765907469 GRCh37: 3:38603922-38603922
GRCh38: 3:38562431-38562431
33 SCN5A NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) SNV Likely Pathogenic
9406 rs137854607 GRCh37: 3:38595800-38595800
GRCh38: 3:38554309-38554309
34 SCN5A NM_000335.5(SCN5A):c.2335del (p.Gln779fs) DEL Likely Pathogenic
979075 rs2061687300 GRCh37: 3:38628992-38628992
GRCh38: 3:38587501-38587501
35 SCN5A NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) SNV Likely Pathogenic
67835 rs199473603 GRCh37: 3:38603958-38603958
GRCh38: 3:38562467-38562467
36 SCN5A NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) SNV Likely Pathogenic
67937 rs199473623 GRCh37: 3:38592977-38592977
GRCh38: 3:38551486-38551486
37 SCN5A NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) SNV Likely Pathogenic
692258 rs199473315 GRCh37: 3:38592506-38592506
GRCh38: 3:38551015-38551015
38 SCN5A NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) SNV Likely Pathogenic
637991 rs199473259 GRCh37: 3:38597226-38597226
GRCh38: 3:38555735-38555735
39 SCN5A NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) SNV Likely Pathogenic
67898 rs199473260 GRCh37: 3:38597211-38597211
GRCh38: 3:38555720-38555720
40 SCN5A NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) SNV Likely Pathogenic
68033 rs199473071 GRCh37: 3:38655263-38655263
GRCh38: 3:38613772-38613772
41 SCN5A NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) SNV Likely Pathogenic
Uncertain Significance
201549 rs762981322 GRCh37: 3:38591817-38591817
GRCh38: 3:38550326-38550326
42 SCN5A NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) SNV Likely Pathogenic
67939 rs199473286 GRCh37: 3:38592968-38592968
GRCh38: 3:38551477-38551477
43 SCN5A NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) SNV Likely Pathogenic
67732 rs199473584 GRCh37: 3:38627528-38627528
GRCh38: 3:38586037-38586037
44 LOC110121269, SCN5A NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) SNV Likely Pathogenic
9400 rs137854617 GRCh37: 3:38622493-38622493
GRCh38: 3:38581002-38581002
45 SCN5A NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) SNV Likely Pathogenic
67904 rs199473266 GRCh37: 3:38597188-38597188
GRCh38: 3:38555697-38555697
46 SCN5A NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) SNV Conflicting Interpretations Of Pathogenicity
67934 rs199473283 GRCh37: 3:38592986-38592986
GRCh38: 3:38551495-38551495
47 SCN5A NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
67712 rs45553235 GRCh37: 3:38639408-38639408
GRCh38: 3:38597917-38597917
48 SCN5A NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) SNV Uncertain Significance
68024 rs45489199 GRCh37: 3:38591847-38591847
GRCh38: 3:38550356-38550356
49 SCN5A NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) SNV Uncertain Significance
518750 rs373118001 GRCh37: 3:38592171-38592171
GRCh38: 3:38550680-38550680
50 LOC110121269, SCN5A NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) SNV Uncertain Significance
67769 rs199473182 GRCh37: 3:38622706-38622706
GRCh38: 3:38581215-38581215

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

73 (show top 50) (show all 73)
# 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.Arg680His VAR_055181 rs199473142
35 SCN5A p.Glu1295Lys VAR_055187 rs199473218
36 SCN5A p.Ala1330Pro VAR_055189 rs199473224
37 SCN5A p.Ala1330Thr VAR_055190 rs199473224
38 SCN5A p.Phe1473Cys VAR_055194 rs199473256
39 SCN5A p.Phe1486Leu VAR_055195 rs199473615
40 SCN5A p.Thr1620Lys VAR_055201 rs199473282
41 SCN5A p.Arg1644Cys VAR_055203 rs199473287
42 SCN5A p.Met1652Arg VAR_055205 rs199473291
43 SCN5A p.Ile1660Val VAR_055206 rs199473625
44 SCN5A p.Val1763Met VAR_055209 rs199473631
45 SCN5A p.Met1766Leu VAR_055210 rs199473310
46 SCN5A p.Ile1768Val VAR_055211 rs199473311
47 SCN5A p.Val1777Met VAR_055212 rs199473314
48 SCN5A p.Leu1825Pro VAR_055213 rs79299226
49 SCN5A p.Ser1904Leu VAR_055217 rs150264233
50 SCN5A p.Phe2004Leu VAR_055221 rs41311117

Expression for Long Qt Syndrome 3

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

Pathways for Long Qt Syndrome 3

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 SCN5A SCN4B SCN4A SCN3B SCN1B RYR2
2
Show member pathways
12.59 AKAP9 CACNA1C CASQ2 CAV3 KCNE1 KCNE2
3
Show member pathways
12.52 CACNA1C SCN1B SCN3B SCN4A SCN4B SCN5A
4
Show member pathways
12.48 SCN5A SCN4B SCN4A SCN3B SCN1B
5 12.27 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
6
Show member pathways
12.16 SCN5A SCN4B SCN4A SCN3B SCN1B ANK2
7 12.06 SNTA1 SCN5A SCN4B SCN3B RYR2 KCNQ1
8
Show member pathways
11.83 SCN4B SCN1B KCNJ2
9 11.33 CACNA1C SCN1B SCN3B SCN4A SCN4B SCN5A
10 11.18 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
11 11.12 SCN5A SCN4B SCN4A SCN3B SCN1B ANK2
12 11.01 SCN4B SCN3B SCN1B
13 10.72 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.76 ANK2 CACNA1C CAV3 KCNE1 KCNE2 KCNH2
2 plasma membrane GO:0005887 10.76 CACNA1C CAV3 KCNH2 KCNJ2 SCN1B SCN4A
3 membrane GO:0016020 10.65 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 membrane GO:0016021 10.65 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 sarcolemma GO:0042383 10.11 ANK2 CACNA1C CAV3 RYR2 SCN5A SNTA1
6 voltage-gated potassium channel complex GO:0008076 10.1 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
7 intercalated disc GO:0014704 10.03 ANK2 CAV3 KCNJ2 SCN1B SCN4B SCN5A
8 postsynaptic membrane GO:0045211 10.02 SNTA1 KCNJ2 CACNA1C ANK2
9 sarcoplasmic reticulum GO:0016529 9.95 CASQ2 RYR2 TRDN
10 lateral plasma membrane GO:0016328 9.93 SNTA1 SCN5A KCNQ1
11 sarcoplasmic reticulum membrane GO:0033017 9.93 TRDN RYR2 CASQ2
12 T-tubule GO:0030315 9.9 SCN5A SCN1B KCNJ2 CAV3 CACNA1C ANK2
13 junctional sarcoplasmic reticulum membrane GO:0014701 9.88 TRDN RYR2 CASQ2
14 sarcoplasmic reticulum lumen GO:0033018 9.81 TRDN CASQ2
15 potassium channel complex GO:0034705 9.7 KCNQ1 AKAP9
16 voltage-gated sodium channel complex GO:0001518 9.65 SCN1B SCN3B SCN4A SCN4B SCN5A
17 Z disc GO:0030018 9.53 SCN5A SCN3B RYR2 KCNE1 CAV3 CASQ2

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.36 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2 sodium ion transmembrane transport GO:0035725 10.35 SCN1B SCN3B SCN4A SCN4B SCN5A
3 establishment of localization in cell GO:0051649 10.3 TRDN SCN4B RYR2 CAV3
4 cellular calcium ion homeostasis GO:0006874 10.3 ANK2 CASQ2 RYR2 TRDN
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10.3 AKAP9 ANK2 CAV3 KCNE1 KCNE2 SNTA1
6 regulation of heart rate GO:0002027 10.29 ANK2 CASQ2 CAV3 KCNQ1 RYR2 SCN5A
7 sodium ion transport GO:0006814 10.27 KCNQ1 SCN1B SCN3B SCN4A SCN4B SCN5A
8 cardiac muscle contraction GO:0060048 10.27 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
9 potassium ion import across plasma membrane GO:1990573 10.25 KCNQ1 KCNJ2 KCNH2 KCNE2
10 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.23 SCN5A SCN4B SCN3B SCN1B KCNJ2 CACNA1C
11 regulation of heart rate by cardiac conduction GO:0086091 10.23 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
12 cellular response to xenobiotic stimulus GO:0071466 10.21 KCNQ1 KCNH2 KCNE2
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.21 RYR2 CASQ2 CACNA1C ANK2
14 positive regulation of sodium ion transport GO:0010765 10.21 SCN1B SCN3B SCN4B SCN5A
15 monoatomic ion transport GO:0006811 10.21 SCN5A SCN4B SCN4A SCN3B SCN1B RYR2
16 cellular response to cAMP GO:0071320 10.2 KCNQ1 KCNE1 AKAP9
17 membrane depolarization during action potential GO:0086010 10.2 KCNH2 SCN3B SCN4A SCN5A
18 regulation of sodium ion transmembrane transporter activity GO:2000649 10.19 CAV3 SCN1B SCN3B SCN4B
19 positive regulation of potassium ion transmembrane transport GO:1901381 10.19 KCNQ1 KCNJ2 KCNH2 KCNE1
20 membrane repolarization during action potential GO:0086011 10.19 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
21 potassium ion export across plasma membrane GO:0097623 10.18 KCNQ1 KCNH2 KCNE2 KCNE1
22 regulation of membrane repolarization GO:0060306 10.18 AKAP9 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
23 transmembrane transport GO:0055085 10.17 SCN5A SCN4A RYR2 KCNQ1 KCNH2 CACNA1C
24 positive regulation of heart rate GO:0010460 10.16 KCNQ1 RYR2 SCN3B
25 regulation of cardiac muscle contraction GO:0055117 10.16 ANK2 CAV3 RYR2
26 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.16 KCNQ1 KCNH2 KCNE2 KCNE1
27 membrane depolarization GO:0051899 10.15 SCN5A SCN3B SCN1B
28 regulation of potassium ion transmembrane transport GO:1901379 10.15 KCNH2 KCNE2 KCNE1
29 regulation of release of sequestered calcium ion into cytosol GO:0051279 10.14 ANK2 CASQ2 TRDN
30 regulation of cardiac muscle cell contraction GO:0086004 10.14 SCN5A KCNJ2 ANK2
31 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.13 KCNE1 KCNH2 KCNJ2 KCNQ1
32 regulation of monoatomic ion transmembrane transport GO:0034765 10.13 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 potassium ion transport GO:0006813 10.12 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
34 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 10.11 SCN5A SCN3B SCN1B
35 monoatomic ion transmembrane transport GO:0034220 10.11 SCN5A SCN3B SCN1B KCNQ1 KCNH2 CACNA1C
36 atrial cardiac muscle cell action potential GO:0086014 10.11 SCN5A SCN3B KCNQ1 ANK2
37 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 10.1 CAV3 SCN3B SCN5A
38 SA node cell action potential GO:0086015 10.09 SCN5A SCN3B ANK2
39 membrane repolarization GO:0086009 10.09 KCNQ1 KCNH2 KCNE2 KCNE1
40 negative regulation of delayed rectifier potassium channel activity GO:1902260 10.05 KCNQ1 KCNE2 KCNE1
41 regulation of ventricular cardiac muscle cell action potential GO:0098911 10.04 RYR2 CACNA1C
42 cellular response to epinephrine stimulus GO:0071872 10.04 RYR2 KCNQ1
43 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 10.04 TRDN CASQ2
44 cardiac muscle hypertrophy GO:0003300 10.04 RYR2 CAV3
45 cellular response to caffeine GO:0071313 10.04 RYR2 CASQ2
46 negative regulation of potassium ion transmembrane transport GO:1901380 10.03 KCNH2 CAV3
47 regulation of sodium ion transmembrane transport GO:1902305 10.03 SCN5A SNTA1
48 T-tubule organization GO:0033292 10.03 CAV3 ANK2
49 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 10.03 CAV3 AKAP9
50 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 10.03 TRDN RYR2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.27 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 delayed rectifier potassium channel activity GO:0005251 10.08 KCNQ1 KCNH2 KCNE2 KCNE1
3 scaffold protein binding GO:0097110 10.07 SCN5A KCNQ1 KCNH2
4 voltage-gated potassium channel activity GO:0005249 10.07 KCNQ1 KCNH2 KCNE2 KCNE1
5 sodium channel regulator activity GO:0017080 10.07 SNTA1 SCN4B SCN3B SCN1B CAV3
6 voltage-gated sodium channel activity GO:0005248 10.06 SCN5A SCN4B SCN4A SCN1B
7 potassium channel regulator activity GO:0015459 10.05 KCNE2 KCNE1 AKAP9
8 transmembrane transporter binding GO:0044325 10.05 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNQ1
9 protein kinase A regulatory subunit binding GO:0034237 10.03 RYR2 KCNQ1 AKAP9
10 inward rectifier potassium channel activity GO:0005242 10.02 KCNJ2 KCNH2 KCNE2
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 10.01 KCNQ1 KCNH2 KCNE2 KCNE1
12 nitric-oxide synthase binding GO:0050998 9.97 SNTA1 SCN5A CAV3
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.92 KCNQ1 KCNJ2 KCNH2 KCNE1
14 monoatomic ion channel activity GO:0005216 9.91 CACNA1C KCNH2 KCNQ1 RYR2 SCN4A SCN5A
15 sodium channel inhibitor activity GO:0019871 9.88 SCN3B SCN1B
16 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.84 SCN1B SCN5A
17 potassium channel activity GO:0005267 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.76 SCN1B SCN3B SCN4B SCN5A
19 sodium channel activity GO:0005272 9.65 SCN5A SCN4B SCN4A SCN3B SCN1B
20 voltage-gated monoatomic ion channel activity GO:0005244 9.53 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

Sources for Long Qt Syndrome 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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