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LQT3
MCID: LNG048
MIFTS: 53

Long Qt Syndrome 3 (LQT3)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Long Qt Syndrome 3

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MalaCards integrated aliases for Long Qt Syndrome 3:

Name: Long Qt Syndrome 3 56 12 52 73 29 54 6 15 71
Lqt3 56 12 52 73
Long Qt Syndrome Type 3 74 71
Qt Syndrome, Long, Type 3 39
Long Qt Syndrome-3 13

Characteristics:

OMIM:

56
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:

31
long qt syndrome 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110646
OMIM 56 603830
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C1859062 C2931401
Sources

Summaries for Long Qt Syndrome 3

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OMIM : 56 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 progressive familial heart block, type ia and cardiac conduction defect, 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 Developmental Biology. The drugs Ranolazine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and endothelial, and related phenotypes are prolonged qt interval and sudden cardiac death

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 : 73 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 : 74 Long QT syndrome (LQTS) is a condition in which repolarization of the heart after a heartbeat is... 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
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 85)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 30.2 SCN5A ANK2
2 cardiac conduction defect 30.2 SCN5A RYR2 KCNQ1 KCNH2 ANK2
3 familial long qt syndrome 29.8 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 syncope 29.6 SCN5A RYR2 KCNQ1 KCNH2
5 ventricular fibrillation, paroxysmal familial, 1 29.5 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 atrioventricular block 29.4 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
7 brugada syndrome 1 29.4 SCN5A RYR2 LOC110121269 KCNH2 AKAP9
8 right bundle branch block 28.8 SCN5A SCN3B SCN1B KCNH2 CACNA1C
9 cardiac arrest 28.7 SCN5A RYR2 KCNQ1 KCNH2 ANK2 AKAP9
10 heart disease 28.2 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
11 cardiac arrhythmia 28.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
12 sick sinus syndrome 27.5 SNTA1 SCN5A SCN3B SCN1B LOC110121269 KCNQ1
13 dilated cardiomyopathy 27.2 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
14 sinoatrial node disease 27.0 SCN5A SCN3B SCN1B RYR2 KCNQ1 KCNJ2
15 long qt syndrome 2 26.5 SNTA1 SCN5A SCN4B SCN3B RYR2 KCNQ1
16 long qt syndrome 25.7 SNTA1 SCN5A SCN4B SCN1B RYR2 LOC110121269
17 brugada syndrome 23.9 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
18 atrial fibrillation, familial, 10 10.4 SCN5A LOC110121269
19 sick sinus syndrome 1 10.4 SCN5A LOC110121269
20 epileptic encephalopathy, early infantile, 14 10.2 SCN5A KCNQ1 KCNH2
21 first-degree atrioventricular block 10.2 SCN5A KCNJ2
22 deafness, autosomal recessive 98 10.2 KCNQ1 KCNE2 KCNE1
23 brugada syndrome 3 10.1 KCNE2 CACNA1C ANK2
24 third-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
25 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
26 progressive familial heart block, type ib 10.1
27 subacute delirium 10.1
28 second-degree atrioventricular block 10.0 SCN5A SCN3B
29 anhidrosis, isolated, with normal sweat glands 10.0 RYR2 CACNA1C
30 chromosome 2q35 duplication syndrome 10.0 KCNQ1 KCNJ2 CACNA1C
31 ventricular tachycardia, catecholaminergic polymorphic, 3 10.0 RYR2 KCNJ2
32 brugada syndrome 9 10.0
33 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 RYR2 KCNH2
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 SCN5A KCNQ1 KCNH2 CACNA1C
35 erythromelalgia 9.9 SCN5A SCN4B NAV1
36 hyperkalemic periodic paralysis 9.9 SCN5A NAV1 KCNJ2
37 cardiomyopathy, dilated, 3b 9.9 SNTA1 CAV3
38 neuromuscular junction disease 9.8 SCN5A RYR2 KCNH2 CACNA1C
39 familial periodic paralysis 9.8 SCN5A NAV1 KCNJ2 CACNA1C
40 brugada syndrome 5 9.8 SCN5A SCN1B
41 brugada syndrome 4 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
42 migraine, familial hemiplegic, 3 9.8 SCN5A SCN3B NAV1
43 left bundle branch hemiblock 9.7 SCN5A RYR2
44 isolated elevated serum creatine phosphokinase levels 9.7 SCN5A RYR2 CAV3 CACNA1C
45 noonan syndrome with multiple lentigines 9.7 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
46 neuromuscular disease 9.6 SCN5A RYR2 KCNH2 CAV3
47 hypokalemic periodic paralysis, type 1 9.6 SCN5A NAV1 KCNJ2 KCNE1 CACNA1C
48 long qt syndrome 14 9.6 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
49 malignant hyperthermia 9.5 SCN5A RYR2 KCNH2 CAV3 CACNA1C
50 long qt syndrome 15 9.5 SCN1B KCNJ2 KCNE1 CACNA1C

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

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Human phenotypes related to Long Qt Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 sudden cardiac death 31 HP:0001645
3 syncope 31 HP:0001279
4 ventricular fibrillation 31 HP:0001663
5 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM:

603830

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 9.28 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 RYR2
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 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 Ranolazine in LQT3 Patients Completed NCT01648205 Phase 2 Placebo;Ranolazine
4 Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA) Completed NCT02725632
5 CIQTP Prolongation : Role and Mechanism in Sudden Cardiac Death Recruiting NCT03387072

Search NIH Clinical Center for Long Qt Syndrome 3

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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:

40
Heart, Testes, Endothelial
Sources

Publications for Long Qt Syndrome 3

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Articles related to Long Qt Syndrome 3:

(show top 50) (show all 422)
# Title Authors PMID Year
1
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 61 6 56 54
18451998 2008
2
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 56 61 6
7889574 1995
3
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 56
16922724 2006
4
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 6 56
15184283 2004
5
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 6 56
11410597 2001
6
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 6 56
10590249 1999
7
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. 54 61 6
16707561 2006
8
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 61 56
15840476 2005
9
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. 6 61
15851227 2004
10
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. 61 56
12676817 2003
11
Long QT Syndrome 61 6
20301308 2003
12
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 6 61
10772658 2000
13
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 6 61
10377081 1999
14
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 56 61
9753711 1998
15
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 61 6
9506831 1998
16
Molecular mechanism for an inherited cardiac arrhythmia. 61 6
7651517 1995
17
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
18
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
19
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
20
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
21
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
22
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6
18378609 2008
23
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. 6
16453024 2006
24
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. 6
15689442 2005
25
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. 6
15121794 2004
26
Compound mutations: a common cause of severe long-QT syndrome. 56
15051636 2004
27
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 6
12471205 2002
28
Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome. 56
12417563 2002
29
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. 6
12193783 2002
30
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. 6
11889015 2002
31
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 6
11823453 2002
32
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 6
11710892 2001
33
A molecular link between the sudden infant death syndrome and the long-QT syndrome. 6
10911008 2000
34
Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. 6
10448858 1999
35
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56
10220144 1999
36
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. 6
8661019 1996
37
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 56
8541846 1995
38
Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. 56
7956363 1995
39
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. 61 54
17110414 2007
40
E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms. 61
32569350 2020
41
Prolonged left ventricular contraction duration in apical segments as a marker of arrhythmic risk in patients with long QT syndrome. 61
32529202 2020
42
Biophysical defects of an SCN5A V1667I mutation associated with epinephrine-induced marked QT prolongation. 61
32437023 2020
43
Dynamic QT Response to Cold-Water Face Immersion in Long-QT Syndrome Type 3. 61
32449227 2020
44
Purkinje System Hyperexcitability and Ventricular Arrhythmia Risk in Type 3 Long QT Syndrome. 61
32454217 2020
45
Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve. 61
32387251 2020
46
A distinct molecular mechanism by which phenytoin rescues a novel long QT 3 variant. 61
32339567 2020
47
Experimental analysis of the onset mechanism of TdP reported in an LQT3 patient during pharmacological treatment with serotonin-dopamine antagonists against insomnia and nocturnal delirium. 61
31628538 2020
48
Balance Between Rapid Delayed Rectifier K+ Current and Late Na+ Current on Ventricular Repolarization: An Effective Antiarrhythmic Target? 61
32202931 2020
49
Inotropic and Antiarrhythmic Transmural Actions of Ranolazine in a Cellular Model of Type 3 Long QT Syndrome. 61
32491007 2020
50
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8. 61
32161207 2020
Sources

Variations for Long Qt Syndrome 3

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ClinVar genetic disease variations for Long Qt Syndrome 3:

6 (show top 50) (show all 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_198056.2(SCN5A):c.5296A>T (p.Met1766Leu)SNV Pathogenic 446418 rs199473310 3:38592567-38592567 3:38551076-38551076
2 SCN5A NM_001160161.1(SCN5A):c.615T>G (p.Tyr205Ter)SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
3 SCN5A NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His)SNV Pathogenic 9369 rs28937316 3:38592932-38592932 3:38551441-38551441
4 SCN5A NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser)SNV Pathogenic 9370 rs28937317 3:38601909-38601909 3:38560418-38560418
5 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
6 SCN5A NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys)SNV Pathogenic 9375 rs137854614 3:38592479-38592479 3:38550988-38550988
7 SCN5A NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln)SNV Pathogenic 9376 rs137854600 3:38592995-38592995 3:38551504-38551504
8 SCN5A NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp)duplication Pathogenic 9382 rs397514449 3:38592475-38592476 3:38550984-38550985
9 SCN5A NM_000335.4(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)indel Pathogenic 9384 rs137854605 3:38622828-38622829 3:38581337-38581338
10 SCN5A NM_198056.2(SCN5A):c.2989G>T (p.Ala997Ser)SNV Pathogenic 9388 rs137854609 3:38622661-38622661 3:38581170-38581170
11 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn)SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
12 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
13 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met)SNV Pathogenic 67651 rs72549410 3:38647549-38647549 3:38606058-38606058
14 SCN5A NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val)SNV Pathogenic 67980 rs199473311 3:38592561-38592561 3:38551070-38551070
15 SCN5A NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)deletion Pathogenic 201571 rs397514251 3:38597162-38597170 3:38555671-38555679
16 SCN5A NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter)SNV Pathogenic 201438 rs794728849 3:38655273-38655273 3:38613782-38613782
17 SCN5A NM_198056.2(SCN5A):c.4850_4852delshort repeat Pathogenic/Likely pathogenic 201572 rs749697698 3:38593011-38593013 3:38551520-38551522
18 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp)SNV Pathogenic/Likely pathogenic 68032 rs199473072 3:38655264-38655264 3:38613773-38613773
19 SCN5A NM_198056.2(SCN5A):c.4886G>A (p.Arg1629Gln)SNV Pathogenic/Likely pathogenic 67937 rs199473623 3:38592977-38592977 3:38551486-38551486
20 SCN5A NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)SNV Pathogenic/Likely pathogenic 67838 rs199473220 3:38603913-38603913 3:38562422-38562422
21 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
22 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)SNV Pathogenic/Likely pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
23 SCN5A NM_198056.2(SCN5A):c.4463C>A (p.Thr1488Lys)SNV Likely pathogenic 637991 3:38597226-38597226 3:38555735-38555735
24 SCN5A NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)SNV Likely pathogenic 692258 3:38592506-38592506 3:38551015-38551015
25 SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416
26 SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)SNV Conflicting interpretations of pathogenicity 9396 rs45620037 3:38655278-38655278 3:38613787-38613787
27 SCN5A NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys)SNV Conflicting interpretations of pathogenicity 9400 rs137854617 3:38622493-38622493 3:38581002-38581002
28 SCN5A NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)SNV Conflicting interpretations of pathogenicity 36761 rs41311123 3:38601665-38601665 3:38560174-38560174
29 SCN5A NM_000335.5(SCN5A):c.4434+13C>TSNV Conflicting interpretations of pathogenicity 36762 rs148598985 3:38597919-38597919 3:38556428-38556428
30 SCN5A NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)SNV Conflicting interpretations of pathogenicity 36763 rs45548237 3:38597180-38597180 3:38555689-38555689
31 SCN5A NM_000335.5(SCN5A):c.2436+12G>ASNV Conflicting interpretations of pathogenicity 36758 rs41312419 3:38628879-38628879 3:38587388-38587388
32 SCN5A NM_000335.5(SCN5A):c.630G>A (p.Val210=)SNV Conflicting interpretations of pathogenicity 36766 rs193922727 3:38655307-38655307 3:38613816-38613816
33 SCN5A NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)SNV Conflicting interpretations of pathogenicity 36767 rs41276525 3:38655290-38655290 3:38613799-38613799
34 SCN5A NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)SNV Conflicting interpretations of pathogenicity 48284 rs144511230 3:38646297-38646297 3:38604806-38604806
35 SCN5A NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)SNV Conflicting interpretations of pathogenicity 48290 rs45522138 3:38645412-38645412 3:38603921-38603921
36 SCN5A NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)SNV Conflicting interpretations of pathogenicity 48295 rs199473177 3:38627199-38627199 3:38585708-38585708
37 SCN5A NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)SNV Conflicting interpretations of pathogenicity 67691 rs12720452 3:38645249-38645249 3:38603758-38603758
38 SCN5A NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)SNV Conflicting interpretations of pathogenicity 67712 rs45553235 3:38639408-38639408 3:38597917-38597917
39 SCN5A NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg)SNV Conflicting interpretations of pathogenicity 67734 rs45475899 3:38627472-38627472 3:38585981-38585981
40 SCN5A NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)SNV Conflicting interpretations of pathogenicity 67769 rs199473182 3:38622706-38622706 3:38581215-38581215
41 SCN5A NM_198056.2(SCN5A):c.2957G>A (p.Arg986Gln)SNV Conflicting interpretations of pathogenicity 67770 rs41313667 3:38622693-38622693 3:38581202-38581202
42 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys)SNV Conflicting interpretations of pathogenicity 67667 rs199473119 3:38645526-38645526 3:38604035-38604035
43 SCN5A NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln)SNV Conflicting interpretations of pathogenicity 67672 rs199473121 3:38645489-38645489 3:38603998-38603998
44 SCN5A NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)SNV Conflicting interpretations of pathogenicity 48313 rs199473638 3:38591978-38591978 3:38550487-38550487
45 SCN5A NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)SNV Conflicting interpretations of pathogenicity 48315 rs41311117 3:38591853-38591853 3:38550362-38550362
46 SCN5A NM_000335.5(SCN5A):c.717C>T (p.Ile239=)SNV Conflicting interpretations of pathogenicity 48316 rs41285129 3:38651442-38651442 3:38609951-38609951
47 SCN5A NM_198056.2(SCN5A):c.4057G>A (p.Val1353Met)SNV Conflicting interpretations of pathogenicity 67857 rs199473233 3:38601826-38601826 3:38560335-38560335
48 SCN5A NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val)SNV Conflicting interpretations of pathogenicity 67904 rs199473266 3:38597188-38597188 3:38555697-38555697
49 SCN5A NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)SNV Conflicting interpretations of pathogenicity 67772 rs199473183 3:38622640-38622640 3:38581149-38581149
50 SCN5A NM_198056.2(SCN5A):c.3292G>T (p.Val1098Leu)SNV Conflicting interpretations of pathogenicity 67788 rs199473191 3:38620923-38620923 3:38579432-38579432

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

73 (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

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.29 SCN5A SCN4B SCN3B SCN1B RYR2 CACNA1C
2
Developmental Biology 65
Show member pathways
 13.23 SCN5A SCN4B SCN3B SCN1B CACNA1C ANK2
3
G-Beta Gamma Signaling 63
Show member pathways
 12.78 SCN5A SCN4B SCN3B SCN1B CACNA1C
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.45 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNE1
5
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.42 SCN5A SCN4B SCN3B SCN1B
6
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.27 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
7
Cardiac conduction 65
Show member pathways
 12.16 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
8
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.07 SNTA1 SCN5A SCN4B SCN3B RYR2 KCNQ1
9
L1CAM interactions 65
Show member pathways
 11.93 SCN5A SCN4B SCN3B SCN1B ANK2
10
Potassium Channels 65
Show member pathways
 11.88 KCNQ1 KCNJ2 KCNH2
11
Phase 0 - rapid depolarisation 65
Show member pathways
 11.68 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNE2
12
Antiarrhythmic Pathway, Pharmacodynamics 60
11.48 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
13
Interaction between L1 and Ankyrins 65
11.2 SCN5A SCN4B SCN3B SCN1B ANK2
14
TarBasePathway 1
10.91 KCNQ1 KCNJ2 KCNE1
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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
2 plasma membrane GO:0005886 10.25 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
3 cell surface GO:0009986 9.88 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 lysosome GO:0005764 9.83 KCNQ1 KCNE2 KCNE1 ANK2
5 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
6 membrane raft GO:0045121 9.73 KCNQ1 KCNE1 CAV3 ANK2
7 voltage-gated potassium channel complex GO:0008076 9.73 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
8 Z disc GO:0030018 9.7 SCN5A SCN3B RYR2 KCNE1 CAV3 CACNA1C
9 voltage-gated sodium channel complex GO:0001518 9.67 SCN5A SCN4B SCN3B SCN1B
10 axon initial segment GO:0043194 9.51 NAV1 ANK2
11 dystrophin-associated glycoprotein complex GO:0016010 9.49 SNTA1 CAV3
12 T-tubule GO:0030315 9.43 SCN5A SCN1B KCNJ2 CAV3 CACNA1C ANK2
13 intercalated disc GO:0014704 9.1 SCN5A SCN4B SCN1B KCNJ2 CAV3 ANK2

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.22 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
2 transmembrane transport GO:0055085 10.13 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium ion transport GO:0006813 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 ventricular cardiac muscle cell action potential GO:0086005 10.02 SNTA1 SCN5A SCN3B RYR2 KCNQ1 KCNH2
6 cardiac muscle contraction GO:0060048 9.98 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
7 sodium ion transport GO:0006814 9.97 SCN5A SCN4B SCN3B SCN1B
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.97 SCN5A SCN4B SCN3B SCN1B KCNJ2 KCNE2
9 cardiac conduction GO:0061337 9.96 SCN5A SCN3B SCN1B KCNQ1 KCNJ2 KCNH2
10 sodium ion transmembrane transport GO:0035725 9.94 SCN5A SCN4B SCN3B SCN1B
11 regulation of heart rate GO:0002027 9.91 SNTA1 SCN5A RYR2 CAV3 ANK2
12 protein localization to plasma membrane GO:0072659 9.9 SCN3B CAV3 ANK2
13 cellular response to drug GO:0035690 9.89 KCNQ1 KCNH2 KCNE2
14 regulation of sodium ion transmembrane transporter activity GO:2000649 9.89 SCN4B SCN3B SCN1B CAV3
15 regulation of membrane repolarization GO:0060306 9.89 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
16 positive regulation of sodium ion transport GO:0010765 9.88 SCN5A SCN4B SCN3B SCN1B
17 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
18 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B SCN3B SCN1B KCNJ2 CACNA1C
19 cellular response to cAMP GO:0071320 9.87 KCNQ1 KCNE1 AKAP9
20 potassium ion export across plasma membrane GO:0097623 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
21 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.86 KCNQ1 KCNH2 KCNE2 KCNE1
23 membrane repolarization GO:0086009 9.85 KCNQ1 KCNH2 KCNE2 KCNE1
24 membrane repolarization during action potential GO:0086011 9.85 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
25 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.84 KCNQ1 KCNJ2 KCNH2 KCNE1
27 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.83 RYR2 CACNA1C ANK2
28 positive regulation of heart rate GO:0010460 9.83 SCN3B RYR2 KCNQ1
29 regulation of cardiac muscle contraction GO:0055117 9.83 RYR2 CAV3 ANK2
30 atrial cardiac muscle cell action potential GO:0086014 9.83 SCN5A SCN3B KCNQ1 ANK2
31 membrane depolarization GO:0051899 9.82 SCN5A SCN3B SCN1B
32 regulation of potassium ion transmembrane transport GO:1901379 9.81 KCNH2 KCNE2 KCNE1
33 membrane depolarization during action potential GO:0086010 9.81 SCN5A SCN3B KCNH2
34 regulation of cardiac muscle cell contraction GO:0086004 9.8 SCN5A KCNJ2 ANK2
35 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.79 SCN5A SCN3B SCN1B
36 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.78 SCN5A SCN3B CAV3
37 SA node cell action potential GO:0086015 9.77 SCN5A SCN3B ANK2
38 positive regulation of microtubule polymerization GO:0031116 9.73 CAV3 AKAP9
39 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.73 KCNE2 KCNE1
40 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
41 calcium ion transport into cytosol GO:0060402 9.72 RYR2 CACNA1C
42 cellular response to epinephrine stimulus GO:0071872 9.72 RYR2 KCNQ1
43 negative regulation of potassium ion transmembrane transport GO:1901380 9.72 KCNH2 CAV3
44 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 RYR2 CACNA1C
45 T-tubule organization GO:0033292 9.71 CAV3 ANK2
46 regulation of sodium ion transmembrane transport GO:1902305 9.71 SNTA1 SCN5A
47 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.71 CAV3 AKAP9
48 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.71 RYR2 ANK2
49 regulation of delayed rectifier potassium channel activity GO:1902259 9.7 KCNE2 KCNE1
50 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.7 ANK2 AKAP9

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.91 SCN5A RYR2 CAV3 ANK2
2 calmodulin binding GO:0005516 9.91 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
3 ion channel activity GO:0005216 9.89 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
4 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2
6 voltage-gated potassium channel activity GO:0005249 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
7 potassium channel regulator activity GO:0015459 9.75 KCNE2 KCNE1 AKAP9
8 protein kinase A regulatory subunit binding GO:0034237 9.73 RYR2 KCNQ1 AKAP9
9 sodium channel activity GO:0005272 9.73 SCN5A SCN4B SCN3B SCN1B
10 voltage-gated sodium channel activity GO:0005248 9.72 SCN5A SCN4B SCN1B
11 sodium channel regulator activity GO:0017080 9.72 SNTA1 SCN4B SCN3B SCN1B CAV3
12 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ2 KCNH2 KCNE2
13 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
15 nitric-oxide synthase binding GO:0050998 9.65 SNTA1 SCN5A CAV3
16 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
17 protein kinase A catalytic subunit binding GO:0034236 9.6 RYR2 KCNQ1
18 sodium channel inhibitor activity GO:0019871 9.59 SCN3B SCN1B
19 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.57 SCN5A SCN1B
20 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
21 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.46 SCN5A SCN4B SCN3B SCN1B
22 ion channel binding GO:0044325 9.4 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
Sources

Sources for Long Qt Syndrome 3

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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