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LQT3
MCID: LNG048
MIFTS: 53

Long Qt Syndrome 3 (LQT3)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle 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 57 12 20 73 29 54 6 15 71
Lqt3 57 12 20 73
Long Qt Syndrome Type 3 74 71
Qt Syndrome, Long, Type 3 39
Long Qt Syndrome-3 13

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 Muscle diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110646
OMIM® 57 603830
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
UMLS 71 C1859062 C2931401
Sources

Summaries for Long Qt Syndrome 3

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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 05-Mar-2021)

MalaCards based summary : Long Qt Syndrome 3, also known as lqt3, is related to long qt syndrome 6 and syncope, 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 Developmental Biology and Circadian entrainment. The drugs Ranolazine and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, 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 : 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 94)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 6 30.9 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 syncope 30.2 SCN5A RYR2 KCNQ1 KCNH2
3 progressive familial heart block, type ia 30.2 SCN5A ANK2
4 ventricular fibrillation, paroxysmal familial, 1 29.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
5 atrioventricular block 29.8 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 brugada syndrome 1 29.7 SCN5A RYR2 LOC110121269 KCNH2 AKAP9
7 cardiac conduction defect 29.7 SCN5A SCN1B RYR2 KCNQ1 KCNH2 CACNA1C
8 right bundle branch block 29.3 SCN5A SCN3B SCN1B KCNH2 GPD1L CACNA1C
9 sick sinus syndrome 29.3 SNTA1 SCN5A SCN3B SCN1B LOC110121269 CACNA1C
10 familial long qt syndrome 29.3 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1 KCNH2
11 cardiac arrest 28.9 SCN5A RYR2 NOS1AP KCNQ1 KCNH2 CASQ2
12 heart disease 28.6 SCN5A RYR2 NOS1AP KCNQ1 KCNJ2 KCNH2
13 sinoatrial node disease 28.6 SCN5A SCN3B SCN1B RYR2 KCNQ1 KCNJ2
14 cardiac arrhythmia 28.5 SCN5A SCN3B SCN1B RYR2 LOC110121269 KCNQ1
15 dilated cardiomyopathy 28.0 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNJ2
16 long qt syndrome 27.1 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
17 long qt syndrome 2 26.7 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
18 brugada syndrome 26.4 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
19 sick sinus syndrome 1 10.3 SCN5A LOC110121269
20 atrial fibrillation, familial, 10 10.3 SCN5A LOC110121269
21 developmental and epileptic encephalopathy 14 10.3 SCN5A KCNQ1 KCNH2
22 deafness, autosomal recessive 98 10.3 KCNQ1 KCNE2 KCNE1
23 first-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2
24 properdin deficiency, x-linked 10.2 KCNJ2 KCNH2
25 familial short qt syndrome 10.2 KCNQ1 KCNJ2 KCNH2
26 second-degree atrioventricular block 10.2 SCN5A SCN3B
27 lateral myocardial infarction 10.2 SCN5A SCN1B
28 brugada syndrome 3 10.2 KCNE2 CACNA1C ANK2
29 brugada syndrome 2 10.2 SCN5A GPD1L
30 idiopathic ventricular fibrillation, non brugada type 10.2 SCN5A RYR2 CACNA1C
31 hyperkalemic periodic paralysis 10.2 SCN5A NAV1 KCNJ2
32 erythromelalgia 10.2 SCN5A SCN4B NAV1
33 arrhythmogenic right ventricular dysplasia, familial, 12 10.2 RYR2 KCNH2
34 left bundle branch hemiblock 10.1 SCN5A RYR2
35 anhidrosis, isolated, with normal sweat glands 10.1 RYR2 CACNA1C
36 noonan syndrome with multiple lentigines 10.1 SCN5A RYR2 KCNQ1 KCNH2
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1 SCN5A KCNQ1 KCNH2 CACNA1C
38 neuromuscular junction disease 10.1 SCN5A RYR2 KCNH2 CACNA1C
39 third-degree atrioventricular block 10.1 SCN5A SCN1B KCNJ2 KCNH2
40 brugada syndrome 5 10.1 SCN5A SCN1B
41 wolff-parkinson-white syndrome 10.1 SCN5A KCNQ1 CASQ2
42 familial periodic paralysis 10.1 SCN5A NAV1 KCNJ2 CACNA1C
43 chromosome 2q35 duplication syndrome 10.1 KCNQ1 KCNJ2 KCNH2 CACNA1C
44 rasopathy 10.1 SCN5A RYR2 KCNQ1 KCNH2
45 brugada syndrome 9 10.0
46 epilepsy 10.0
47 isolated elevated serum creatine phosphokinase levels 10.0 SCN5A RYR2 CAV3 CACNA1C
48 congestive heart failure 10.0 SCN5A RYR2 KCNQ1 CACNA1C
49 ventricular tachycardia, catecholaminergic polymorphic, 3 10.0 RYR2 KCNJ2 CASQ2
50 long qt syndrome 14 10.0 SCN5A KCNQ1 KCNJ2 KCNH2 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 sudden cardiac death 31 HP:0001645
2 prolonged qt interval 31 HP:0001657
3 syncope 31 HP:0001279
4 ventricular fibrillation 31 HP:0001663
5 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

603830 (Updated 05-Mar-2021)

UMLS symptoms related to Long Qt Syndrome 3:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.32 CACNA1C CASQ2 CAV3 KCNH2 KCNJ2 KCNQ1
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 95635-55-5, 142387-99-3 56959
2 Diuretics, Potassium Sparing Phase 2
3 Sodium Channel Blockers 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

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, Endothelial
Sources

Publications for Long Qt Syndrome 3

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Articles related to Long Qt Syndrome 3:

(show top 50) (show all 432)
# Title Authors PMID Year
1
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 61 6 57 54
18451998 2008
2
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 57 6 61
7889574 1995
3
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6 57
16922724 2006
4
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 57 6
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. 57 6
11410597 2001
6
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. 57 6
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 6 61
16707561 2006
8
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 57 61
15840476 2005
9
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. 57 61
12676817 2003
10
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 61 6
10772658 2000
11
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 6 61
10377081 1999
12
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 61 57
9753711 1998
13
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 6 61
9506831 1998
14
Molecular mechanism for an inherited cardiac arrhythmia. 6 61
7651517 1995
15
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6
18378609 2008
16
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. 6
16453024 2006
17
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. 6
15689442 2005
18
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. 6
15121794 2004
19
Compound mutations: a common cause of severe long-QT syndrome. 57
15051636 2004
20
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. 6
12471205 2002
21
Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome. 57
12417563 2002
22
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. 6
12193783 2002
23
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. 6
11889015 2002
24
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 6
11823453 2002
25
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. 6
11710892 2001
26
A molecular link between the sudden infant death syndrome and the long-QT syndrome. 6
10911008 2000
27
Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. 6
10448858 1999
28
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
29
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. 6
8661019 1996
30
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 57
8541846 1995
31
Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. 57
7956363 1995
32
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. 54 61
17110414 2007
33
Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram. 61
33566059 2021
34
Voltage/Calcium Uncoupling Underlies Sustained Torsade de Pointes Ventricular Tachyarrhythmia in an Experimental Model of Long QT Syndrome. 61
33584347 2021
35
Establishment of human embryonic stem cell WAe009-A-48 carrying a long QT syndrome mutation in SCN5A. 61
33517120 2021
36
Mechanisms underlying age-associated manifestation of cardiac sodium channel gain-of-function. 61
33373643 2020
37
Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity. 61
32931730 2020
38
Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve. 61
32387251 2020
39
Subcutaneous and transvenous implantable cardioverter defibrillator in high-risk long-QT syndrome type 3 associated with Val411Met mutation in SCN5A. 61
33133318 2020
40
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome. 61
33213816 2020
41
Functional modulation of atrio-ventricular conduction by enhanced late sodium current and calcium-dependent mechanisms in Scn5a1798insD/+ mice. 61
32778883 2020
42
Late Sodium Current in Atrial Cardiomyocytes Contributes to the Induced and Spontaneous Atrial Fibrillation in Rabbit Hearts. 61
32675747 2020
43
Outcome by Sex in Patients With Long QT Syndrome With an Implantable Cardioverter Defibrillator. 61
33021160 2020
44
Purkinje system hyperexcitability and ventricular arrhythmia risk in type 3 long QT syndrome. 61
32454217 2020
45
Sex influences on ventricular repolarization duration in normal subjects and in type 1, 2 and 3 long QT syndrome patients: Different effect in acquired and congenital type 2 LQTS. 61
32905894 2020
46
E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms. 61
32569350 2020
47
Dynamic QT response to cold-water face immersion in long-QT syndrome type 3. 61
32449227 2020
48
Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members. 61
32469608 2020
49
Biophysical defects of an SCN5A V1667I mutation associated with epinephrine-induced marked QT prolongation. 61
32437023 2020
50
Prolonged left ventricular contraction duration in apical segments as a marker of arrhythmic risk in patients with long QT syndrome. 61
32529202 2020
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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 265)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) Deletion Pathogenic 201571 rs397514251 3:38597162-38597170 3:38555671-38555679
2 SCN5A NM_198056.2(SCN5A):c.3974A>G (p.Asn1325Ser) SNV Pathogenic 9370 rs28937317 3:38601909-38601909 3:38560418-38560418
3 SCN5A NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) SNV Pathogenic 9375 rs137854614 3:38592479-38592479 3:38550988-38550988
4 SCN5A NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) SNV Pathogenic 9376 rs137854600 3:38592995-38592995 3:38551504-38551504
5 SCN5A NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) Duplication Pathogenic 9382 rs397514449 3:38592475-38592476 3:38550984-38550985
6 LOC110121269 NM_000335.4(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) Indel Pathogenic 9384 rs137854605 3:38622828-38622829 3:38581337-38581338
7 LOC110121269 NM_198056.2(SCN5A):c.2989G>T (p.Ala997Ser) SNV Pathogenic 9388 rs137854609 3:38622661-38622661 3:38581170-38581170
8 SCN5A NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) SNV Pathogenic 9389 rs137854610 3:38592386-38592386 3:38550895-38550895
9 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic 67651 rs72549410 3:38647549-38647549 3:38606058-38606058
10 SCN5A NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) SNV Pathogenic 207974 rs370694515 3:38592170-38592170 3:38550679-38550679
11 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) SNV Pathogenic 9401 rs137854618 3:38607917-38607917 3:38566426-38566426
12 SCN5A NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) SNV Pathogenic 67980 rs199473311 3:38592561-38592561 3:38551070-38551070
13 SCN5A NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln) SNV Pathogenic 67672 rs199473121 3:38645489-38645489 3:38603998-38603998
14 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
15 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
16 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
17 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
18 SCN5A NM_198056.2(SCN5A):c.5296A>T (p.Met1766Leu) SNV Pathogenic 446418 rs199473310 3:38592567-38592567 3:38551076-38551076
19 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) SNV Pathogenic 68032 rs199473072 3:38655264-38655264 3:38613773-38613773
20 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
21 SCN5A NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) SNV Pathogenic 201438 rs794728849 3:38655273-38655273 3:38613782-38613782
22 SCN5A NM_198056.2(SCN5A):c.612-229T>G SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
23 SCN5A NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) SNV Pathogenic 67838 rs199473220 3:38603913-38603913 3:38562422-38562422
24 SCN5A NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val) SNV Pathogenic 978725 3:38627487-38627487 3:38585996-38585996
25 SCN5A NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) SNV Pathogenic 9369 rs28937316 3:38592932-38592932 3:38551441-38551441
26 SCN5A NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) Microsatellite Pathogenic/Likely pathogenic 201572 rs749697698 3:38593011-38593013 3:38551520-38551522
27 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic/Likely pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
28 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely pathogenic 67667 rs199473119 3:38645526-38645526 3:38604035-38604035
29 SCN5A NM_198056.2(SCN5A):c.4886G>A (p.Arg1629Gln) SNV Likely pathogenic 67937 rs199473623 3:38592977-38592977 3:38551486-38551486
30 LOC110121269 NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) SNV Likely pathogenic 9400 rs137854617 3:38622493-38622493 3:38581002-38581002
31 SCN5A NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) SNV Likely pathogenic 67835 rs199473603 3:38603958-38603958 3:38562467-38562467
32 SCN5A NM_198056.2(SCN5A):c.4463C>A (p.Thr1488Lys) SNV Likely pathogenic 637991 rs199473259 3:38597226-38597226 3:38555735-38555735
33 SCN5A NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) SNV Likely pathogenic 692258 rs199473315 3:38592506-38592506 3:38551015-38551015
34 SCN5A NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) SNV risk factor 9392 rs41261344 3:38616876-38616876 3:38575385-38575385
35 LOC110121269 NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416
36 SCN5A NM_198056.2(SCN5A):c.4895G>A (p.Arg1632His) SNV Likely pathogenic 67939 rs199473286 3:38592968-38592968 3:38551477-38551477
37 SCN5A NM_198056.2(SCN5A):c.4783G>C (p.Asp1595His) SNV Likely pathogenic 9406 rs137854607 3:38595800-38595800 3:38554309-38554309
38 SCN5A NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) SNV Likely pathogenic 67732 rs199473584 3:38627528-38627528 3:38586037-38586037
39 SCN5A NM_000335.5(SCN5A):c.2335del (p.Gln779fs) Deletion Likely pathogenic 979075 3:38628992-38628992 3:38587501-38587501
40 SCN5A NM_198056.2(SCN5A):c.6046G>A (p.Val2016Met) SNV Likely pathogenic 201549 rs762981322 3:38591817-38591817 3:38550326-38550326
41 SCN5A NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) SNV Likely pathogenic 67904 rs199473266 3:38597188-38597188 3:38555697-38555697
42 SCN5A NM_198056.2(SCN5A):c.4868G>T (p.Arg1623Leu) SNV Likely pathogenic 67933 rs137854600 3:38592995-38592995 3:38551504-38551504
43 SCN5A NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) SNV Conflicting interpretations of pathogenicity 67934 rs199473283 3:38592986-38592986 3:38551495-38551495
44 SCN5A NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) SNV Uncertain significance 67693 rs199473133 3:38645238-38645238 3:38603747-38603747
45 LOC110121269 NM_198056.2(SCN5A):c.3307T>G (p.Ser1103Ala) SNV Uncertain significance 637990 rs1575757097 3:38620908-38620908 3:38579417-38579417
46 SCN5A NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) SNV Uncertain significance 9399 rs137854616 3:38607956-38607956 3:38566465-38566465
47 SCN5A NM_198056.2(SCN5A):c.6034C>T (p.Arg2012Cys) SNV Uncertain significance 68027 rs199473640 3:38591829-38591829 3:38550338-38550338
48 SCN5A NM_198056.2(SCN5A):c.2437-7T>C SNV Uncertain significance 560718 rs1012068196 3:38627539-38627539 3:38586048-38586048
49 SCN5A NM_198056.2(SCN5A):c.2643G>T (p.Met881Ile) SNV Uncertain significance 560719 rs1559756973 3:38627326-38627326 3:38585835-38585835
50 SCN5A NM_198056.2(SCN5A):c.1298G>A (p.Arg433His) SNV Uncertain significance 463296 rs879035421 3:38647482-38647482 3:38605991-38605991

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

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 13)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.28 SCN5A SCN4B SCN3B SCN1B CACNA1C ANK2
2
Circadian entrainment 36
Show member pathways
 12.55 RYR2 NOS1AP KCNQ1 KCNJ2 CACNA1C
3
Cardiac conduction 65
Show member pathways
 12.5 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.45 SCN5A SCN4B SCN1B RYR2 KCNQ1 KCNE1
5
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.27 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
6
Salivary secretion 36
Show member pathways
 12.24 RYR2 KCNQ1 KCNJ2 KCNE2
7
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.06 SNTA1 SCN5A SCN4B SCN3B RYR2 NOS1AP
8
L1CAM interactions 65
Show member pathways
 11.93 SCN5A SCN4B SCN3B SCN1B ANK2
9
Phase 0 - rapid depolarisation 65
Show member pathways
 11.79 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNE2
10
Cardiac muscle contraction 36
11.61 RYR2 CASQ2 CACNA1C
11
Interaction between L1 and Ankyrins 65
11.2 SCN5A SCN4B SCN3B SCN1B ANK2
12
Antiarrhythmic Pathway, Pharmacodynamics 60
11.18 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
13
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 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
2 plasma membrane GO:0005886 10.28 SNTA1 SCN5A SCN4B SCN3B SCN1B RYR2
3 cell surface GO:0009986 9.96 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 membrane raft GO:0045121 9.83 KCNQ1 KCNE1 CAV3 ANK2
5 voltage-gated potassium channel complex GO:0008076 9.8 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
6 sarcolemma GO:0042383 9.8 SNTA1 SCN5A RYR2 NOS1AP CAV3 CACNA1C
7 caveola GO:0005901 9.67 SCN5A NOS1AP CAV3
8 voltage-gated sodium channel complex GO:0001518 9.67 SCN5A SCN4B SCN3B SCN1B
9 lateral plasma membrane GO:0016328 9.65 SNTA1 SCN5A KCNQ1
10 sarcoplasmic reticulum membrane GO:0033017 9.63 RYR2 NOS1AP CASQ2
11 intercalated disc GO:0014704 9.63 SCN5A SCN4B SCN1B KCNJ2 CAV3 ANK2
12 dystrophin-associated glycoprotein complex GO:0016010 9.55 SNTA1 CAV3
13 L-type voltage-gated calcium channel complex GO:1990454 9.54 NOS1AP CACNA1C
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.51 RYR2 CASQ2
15 T-tubule GO:0030315 9.5 SCN5A SCN1B NOS1AP KCNJ2 CAV3 CACNA1C
16 inward rectifier potassium channel complex GO:1902937 9.43 NOS1AP KCNH2
17 Z disc GO:0030018 9.28 SCN5A SCN3B RYR2 NOS1AP KCNE1 CAV3

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.25 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
2 transmembrane transport GO:0055085 10.14 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 ion transmembrane transport GO:0034220 10.11 SCN5A SCN3B SCN1B RYR2 KCNH2 CASQ2
4 potassium ion transport GO:0006813 10.03 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 potassium ion transmembrane transport GO:0071805 10.02 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 regulation of heart rate GO:0002027 10.02 SNTA1 SCN5A RYR2 GPD1L CAV3 CASQ2
7 cardiac conduction GO:0061337 10.02 SCN5A SCN3B SCN1B KCNQ1 KCNJ2 KCNH2
8 cardiac muscle cell action potential involved in contraction GO:0086002 10.01 SCN5A SCN4B SCN3B SCN1B KCNJ2 KCNE2
9 sodium ion transport GO:0006814 9.99 SCN5A SCN4B SCN3B SCN1B
10 sodium ion transmembrane transport GO:0035725 9.97 SCN5A SCN4B SCN3B SCN1B
11 cardiac muscle contraction GO:0060048 9.97 SCN5A SCN4B SCN3B SCN1B RYR2 KCNQ1
12 regulation of ion transmembrane transport GO:0034765 9.96 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
13 regulation of sodium ion transmembrane transporter activity GO:2000649 9.95 SCN4B SCN3B SCN1B GPD1L CAV3
14 positive regulation of sodium ion transport GO:0010765 9.93 SCN5A SCN4B SCN3B SCN1B GPD1L
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.93 SCN5A SCN4B SCN3B SCN1B KCNJ2 CACNA1C
16 positive regulation of potassium ion transmembrane transport GO:1901381 9.92 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
17 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.91 RYR2 CASQ2 CACNA1C ANK2
18 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2 AKAP9
19 cellular response to drug GO:0035690 9.9 KCNQ1 KCNH2 KCNE2
20 potassium ion export across plasma membrane GO:0097623 9.9 KCNQ1 KCNH2 KCNE2 KCNE1
21 ventricular cardiac muscle cell action potential GO:0086005 9.9 SNTA1 SCN5A SCN3B RYR2 KCNQ1 KCNH2
22 cellular response to cAMP GO:0071320 9.89 KCNQ1 KCNE1 AKAP9
23 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
24 membrane repolarization during action potential GO:0086011 9.89 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
25 membrane repolarization GO:0086009 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.88 KCNQ1 KCNJ2 KCNH2 KCNE1
27 potassium ion import across plasma membrane GO:1990573 9.87 KCNJ2 KCNH2 KCNE2
28 atrial cardiac muscle cell action potential GO:0086014 9.87 SCN5A SCN3B KCNQ1 ANK2
29 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.86 SCN5A SCN3B GPD1L CAV3
30 regulation of cardiac muscle contraction GO:0055117 9.84 RYR2 CAV3 ANK2
31 positive regulation of heart rate GO:0010460 9.83 SCN3B RYR2 KCNQ1
32 membrane depolarization GO:0051899 9.83 SCN5A SCN3B SCN1B
33 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNH2 KCNE2 KCNE1
34 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.82 KCNQ1 KCNE2 KCNE1
35 membrane depolarization during action potential GO:0086010 9.82 SCN5A SCN3B KCNH2
36 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
37 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.79 SCN5A SCN3B SCN1B
38 SA node cell action potential GO:0086015 9.79 SCN5A SCN3B ANK2
39 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 CASQ2 ANK2
40 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.74 RYR2 CACNA1C
41 calcium ion transport into cytosol GO:0060402 9.73 RYR2 CACNA1C
42 detection of calcium ion GO:0005513 9.73 RYR2 CASQ2
43 cellular response to epinephrine stimulus GO:0071872 9.73 RYR2 KCNQ1
44 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 KCNH2 CAV3
45 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.73 RYR2 CACNA1C
46 cellular response to caffeine GO:0071313 9.73 RYR2 CASQ2
47 regulation of heart rate by cardiac conduction GO:0086091 9.73 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
48 T-tubule organization GO:0033292 9.72 CAV3 ANK2
49 regulation of sodium ion transmembrane transport GO:1902305 9.72 SNTA1 SCN5A
50 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.72 CAV3 CASQ2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.89 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
4 voltage-gated potassium channel activity GO:0005249 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2
6 sodium channel activity GO:0005272 9.76 SCN5A SCN4B SCN3B SCN1B
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 delayed rectifier potassium channel activity GO:0005251 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
10 voltage-gated sodium channel activity GO:0005248 9.72 SCN5A SCN4B SCN1B
11 inward rectifier potassium channel activity GO:0005242 9.71 KCNJ2 KCNH2 KCNE2
12 nitric-oxide synthase binding GO:0050998 9.71 SNTA1 SCN5A NOS1AP CAV3
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
14 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN4B SCN3B SCN1B KCNQ1 KCNJ2
15 sodium channel regulator activity GO:0017080 9.63 SNTA1 SCN4B SCN3B SCN1B GPD1L CAV3
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
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 sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.56 SCN5A SCN4B SCN3B SCN1B
21 ion channel binding GO:0044325 9.44 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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