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MCID: LNG048
MIFTS: 45

Long Qt Syndrome 3

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

Aliases & Classifications for Long Qt Syndrome 3

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MalaCards integrated aliases for Long Qt Syndrome 3:

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

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


External Ids:

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

Summaries for Long Qt Syndrome 3

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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)

MalaCards based summary : Long Qt Syndrome 3, also known as lqt3, is related to long qt syndrome and brugada syndrome, 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 Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Ranolazine and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are syncope 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 : 75 Long QT syndrome 3: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

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

Sources

Related Diseases for Long Qt Syndrome 3

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Diseases in the Long Qt Syndrome family:

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

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 26.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 brugada syndrome 25.9 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 brugada syndrome 1 10.0 KCNH2 SCN5A
4 familial short qt syndrome 10.0 KCNH2 KCNQ1
5 long qt syndrome 13 9.7 KCNH2 KCNQ1 SCN5A
6 cardiac conduction defect 9.6 KCNH2 KCNQ1 SCN5A
7 syncope 9.6 KCNH2 KCNQ1 SCN5A
8 heart conduction disease 9.6 KCNH2 KCNQ1 SCN5A
9 cardiac arrest 9.5 KCNQ1 SCN5A
10 catecholaminergic polymorphic ventricular tachycardia 9.4 ANK2 KCNH2 SCN5A
11 arrhythmogenic right ventricular cardiomyopathy 9.3 ANK2 KCNH2 SCN5A
12 sudden infant death syndrome 9.2 KCNH2 KCNQ1 SCN5A
13 andersen cardiodysrhythmic periodic paralysis 9.2 KCNE2 KCNH2 KCNQ1 SCN5A
14 timothy syndrome 9.1 KCNE1 KCNH2 KCNQ1
15 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.0 ANK2 KCNH2 KCNQ1 SCN5A
16 heart disease 8.9 KCNE2 KCNH2 KCNQ1 SCN5A
17 short qt syndrome 8.6 KCNE1 KCNE2 KCNH2 KCNQ1
18 long qt syndrome 12 8.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 ventricular fibrillation, paroxysmal familial, 1 8.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 jervell and lange-nielsen syndrome 1 8.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21 intrinsic cardiomyopathy 8.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 atrioventricular block 8.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 familial atrial fibrillation 8.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 long qt syndrome 6 7.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 long qt syndrome 5 7.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 cardiac arrhythmia 7.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 long qt syndrome 2 7.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 long qt syndrome 1 7.6 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 atrial fibrillation 7.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A

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



Diseases related to Long Qt Syndrome 3
Sources

Symptoms & Phenotypes for Long Qt Syndrome 3

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Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

603830

Human phenotypes related to Long Qt Syndrome 3:

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

UMLS symptoms related to Long Qt Syndrome 3:


syncope
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 Diuretics, Potassium Sparing Phase 2
3 Sodium Channel Blockers Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Eleclazine on Shortening of the QT Interval, Safety, and Tolerability in Adults With Long QT Syndrome Type 3 Terminated NCT02300558 Phase 3 Eleclazine;Eleclazine placebo
2 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
3 Efficacy Study of Sodium Channel Blocker in LQT3 Patients Recruiting NCT01648205 Phase 2 Placebo;Ranolazine
4 Study of the Effect of GS-6615 in Subjects With LQT-3 Completed NCT01849003 Phase 1 GS-6615
5 Sodium Channel Splicing in Heart Failure Trial Completed NCT01185587
6 Worm Study: Modifier Genes in Sudden Cardiac Death Recruiting NCT02014961 Not Applicable
7 Sodium Channel Splicing in Heart Failure Trial (SOCS-HEFT) Prospective Study Recruiting NCT02738749 Not Applicable
8 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380

Search NIH Clinical Center for Long Qt Syndrome 3

Sources

Genetic Tests for Long Qt Syndrome 3

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Genetic tests related to Long Qt Syndrome 3:

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

Anatomical Context for Long Qt Syndrome 3

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MalaCards organs/tissues related to Long Qt Syndrome 3:

41
Heart
Sources

Publications for Long Qt Syndrome 3

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Articles related to Long Qt Syndrome 3:

# Title Authors Year
1
Sevoflurane prolonged the QTc interval and increased transmural dispersion of repolarization in a patient with long QT syndrome 3: a case report. ( 29457073 )
2017
2
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. ( 23805106 )
2013
3
Successful treatment of a newborn with genetically confirmed long QT syndrome 3 and repetitive Torsades De Pointes tachycardia. ( 21713438 )
2011
4
Cardiomyocytes obtained from induced pluripotent stem cells with long-QT syndrome 3 recapitulate typical disease-specific features in vitro. ( 21799153 )
2011
5
Effects of flecainide and quinidine on arrhythmogenic properties of Scn5a+/Delta murine hearts modelling long QT syndrome 3. ( 17023504 )
2007
6
Effects of L-type Ca2+ channel antagonism on ventricular arrhythmogenesis in murine hearts containing a modification in the Scn5a gene modelling human long QT syndrome 3. ( 17110414 )
2007
7
Delayed sodium channel inactivation mimics long QT syndrome 3. ( 12827035 )
2003
Sources

Variations for Long Qt Syndrome 3

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

75 (show top 50) (show all 74)
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Asn1325Ser VAR_001577 rs28937317
2 SCN5A p.Arg1623Gln VAR_001578 rs137854600
3 SCN5A p.Arg1644His VAR_001579 rs28937316
4 SCN5A p.Asp1790Gly VAR_001580 rs199473317
5 SCN5A p.Asp1839Gly VAR_001581 rs199473321
6 SCN5A p.Thr1304Met VAR_008956 rs199473603
7 SCN5A p.Thr1645Met VAR_008958 rs199473288
8 SCN5A p.Glu1784Lys VAR_008959 rs137854601
9 SCN5A p.Asp1114Asn VAR_009935 rs199473195
10 SCN5A p.Leu1501Val VAR_009936 rs199473266
11 SCN5A p.Arg1623Leu VAR_009937 rs137854600
12 SCN5A p.Leu619Phe VAR_015682 rs199473133
13 SCN5A p.Ser941Asn VAR_017675 rs137854605
14 SCN5A p.Ala997Ser VAR_017676 rs137854609
15 SCN5A p.Arg1193Gln VAR_017678 rs41261344
16 SCN5A p.Arg1826His VAR_017687 rs137854610
17 SCN5A p.Tyr1795Cys VAR_019123 rs137854614
18 SCN5A p.Arg27His VAR_026341 rs199473045
19 SCN5A p.Arg367Cys VAR_026353 rs28937318
20 SCN5A p.Gly615Glu VAR_026358 rs12720452
21 SCN5A p.Glu1053Lys VAR_026368 rs137854617
22 SCN5A p.Glu1225Lys VAR_026369 rs199473204
23 SCN5A p.Phe1250Leu VAR_026372 rs45589741
24 SCN5A p.Gly9Val VAR_036660 rs199473043
25 SCN5A p.Arg225Gln VAR_036661 rs199473071
26 SCN5A p.Gly639Arg VAR_036664 rs199473136
27 SCN5A p.Ser1333Tyr VAR_036666 rs199473604
28 SCN5A p.Ser1609Trp VAR_036667 rs199473622
29 SCN5A p.Asp1819Asn VAR_036668 rs137854619
30 SCN5A p.Arg43Gln VAR_055159 rs199473047
31 SCN5A p.Leu212Pro VAR_055162 rs199473070
32 SCN5A p.Arg225Trp VAR_055164 rs199473072
33 SCN5A p.Asn406Lys VAR_055170 rs199473108
34 SCN5A p.Ala572Asp VAR_055178 rs36210423
35 SCN5A p.Arg680His VAR_055181 rs199473142
36 SCN5A p.Glu1295Lys VAR_055187 rs199473218
37 SCN5A p.Ala1330Pro VAR_055189 rs199473224
38 SCN5A p.Ala1330Thr VAR_055190 rs199473224
39 SCN5A p.Phe1473Cys VAR_055194 rs199473256
40 SCN5A p.Phe1486Leu VAR_055195 rs199473615
41 SCN5A p.Thr1620Lys VAR_055201 rs199473282
42 SCN5A p.Arg1644Cys VAR_055203 rs199473287
43 SCN5A p.Met1652Arg VAR_055205 rs199473291
44 SCN5A p.Ile1660Val VAR_055206 rs199473625
45 SCN5A p.Val1763Met VAR_055209 rs199473631
46 SCN5A p.Met1766Leu VAR_055210 rs199473310
47 SCN5A p.Ile1768Val VAR_055211 rs199473311
48 SCN5A p.Val1777Met VAR_055212 rs199473314
49 SCN5A p.Leu1825Pro VAR_055213 rs79299226
50 SCN5A p.Ser1904Leu VAR_055217 rs150264233

ClinVar genetic disease variations for Long Qt Syndrome 3:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
2 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh38 Chromosome 3, 38551441: 38551441
3 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh37 Chromosome 3, 38601909: 38601909
4 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh38 Chromosome 3, 38560418: 38560418
5 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh37 Chromosome 3, 38592996: 38592996
6 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh38 Chromosome 3, 38551505: 38551505
7 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 GRCh37 Chromosome 3, 38592479: 38592479
8 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 GRCh38 Chromosome 3, 38550988: 38550988
9 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh37 Chromosome 3, 38592995: 38592995
10 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh38 Chromosome 3, 38551504: 38551504
11 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
12 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
13 SCN5A NM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) duplication Pathogenic rs397514449 GRCh37 Chromosome 3, 38592476: 38592478
14 SCN5A NM_000335.4(SCN5A): c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) duplication Pathogenic rs397514449 GRCh38 Chromosome 3, 38550985: 38550987
15 SCN5A NM_001099404.1(SCN5A): c.2821_2822delTCinsAA (p.Ser941Asn) indel Pathogenic rs137854605 GRCh37 Chromosome 3, 38622828: 38622829
16 SCN5A NM_001099404.1(SCN5A): c.2821_2822delTCinsAA (p.Ser941Asn) indel Pathogenic rs137854605 GRCh38 Chromosome 3, 38581337: 38581338
17 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh37 Chromosome 3, 38622661: 38622661
18 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh38 Chromosome 3, 38581170: 38581170
19 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh37 Chromosome 3, 38647549: 38647549
20 SCN5A NM_000335.4(SCN5A): c.1231G> A (p.Val411Met) single nucleotide variant Pathogenic rs72549410 GRCh38 Chromosome 3, 38606058: 38606058
21 SCN5A NM_198056.2(SCN5A): c.4850_4852delTCT (p.Phe1617del) deletion Likely pathogenic rs749697698 GRCh37 Chromosome 3, 38593011: 38593013
22 SCN5A NM_198056.2(SCN5A): c.4850_4852delTCT (p.Phe1617del) deletion Likely pathogenic rs749697698 GRCh38 Chromosome 3, 38551520: 38551522
23 SCN5A NM_198056.2(SCN5A): c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del) deletion Pathogenic/Likely pathogenic rs397514251 GRCh37 Chromosome 3, 38597162: 38597170
24 SCN5A NM_198056.2(SCN5A): c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del) deletion Pathogenic/Likely pathogenic rs397514251 GRCh38 Chromosome 3, 38555671: 38555679
25 SCN5A NM_198056.2(SCN5A): c.3577C> T (p.Arg1193Trp) single nucleotide variant Uncertain significance rs192379242 GRCh37 Chromosome 3, 38616877: 38616877
26 SCN5A NM_198056.2(SCN5A): c.3577C> T (p.Arg1193Trp) single nucleotide variant Uncertain significance rs192379242 GRCh38 Chromosome 3, 38575386: 38575386
27 SCN5A NM_000335.4(SCN5A): c.5690G> A (p.Arg1897His) single nucleotide variant Conflicting interpretations of pathogenicity rs370694515 GRCh37 Chromosome 3, 38592170: 38592170
28 SCN5A NM_000335.4(SCN5A): c.5690G> A (p.Arg1897His) single nucleotide variant Conflicting interpretations of pathogenicity rs370694515 GRCh38 Chromosome 3, 38550679: 38550679
29 SCN5A NM_001099404.1(SCN5A): c.3425C> T (p.Ala1142Val) single nucleotide variant Uncertain significance rs879255356 GRCh37 Chromosome 3, 38618238: 38618238
30 SCN5A NM_001099404.1(SCN5A): c.3425C> T (p.Ala1142Val) single nucleotide variant Uncertain significance rs879255356 GRCh38 Chromosome 3, 38576747: 38576747
31 SCN5A NM_198056.2(SCN5A): c.4437+5G> A single nucleotide variant Uncertain significance rs1057520531 GRCh38 Chromosome 3, 38556436: 38556436
32 SCN5A NM_198056.2(SCN5A): c.4437+5G> A single nucleotide variant Uncertain significance rs1057520531 GRCh37 Chromosome 3, 38597927: 38597927
33 SCN5A NM_001160161.1(SCN5A): c.4778T> C (p.Leu1593Pro) single nucleotide variant Uncertain significance rs1060499611 GRCh37 Chromosome 3, 38592923: 38592923
34 SCN5A NM_001160161.1(SCN5A): c.4778T> C (p.Leu1593Pro) single nucleotide variant Uncertain significance rs1060499611 GRCh38 Chromosome 3, 38551432: 38551432
35 SCN5A NM_198056.2(SCN5A): c.5296A> T (p.Met1766Leu) single nucleotide variant Pathogenic rs199473310 GRCh37 Chromosome 3, 38592567: 38592567
36 SCN5A NM_198056.2(SCN5A): c.5296A> T (p.Met1766Leu) single nucleotide variant Pathogenic rs199473310 GRCh38 Chromosome 3, 38551076: 38551076
37 SCN5A NM_198056.2(SCN5A): c.1298G> A (p.Arg433His) single nucleotide variant Uncertain significance rs879035421 GRCh38 Chromosome 3, 38605991: 38605991
38 SCN5A NM_198056.2(SCN5A): c.1298G> A (p.Arg433His) single nucleotide variant Uncertain significance rs879035421 GRCh37 Chromosome 3, 38647482: 38647482
Sources

Expression for Long Qt Syndrome 3

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

Pathways for Long Qt Syndrome 3

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

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

GO Terms for Long Qt Syndrome 3

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.56 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.5 ANK2 KCNE1 KCNQ1
3 sarcolemma GO:0042383 9.43 ANK2 SCN5A
4 intercalated disc GO:0014704 9.4 ANK2 SCN5A
5 T-tubule GO:0030315 9.37 ANK2 SCN5A
6 Z disc GO:0030018 9.33 ANK2 KCNE1 SCN5A
7 lysosome GO:0005764 9.26 ANK2 KCNE1 KCNE2 KCNQ1
8 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.88 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 potassium ion transport GO:0006813 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
5 cellular response to drug GO:0035690 9.77 KCNE2 KCNH2 KCNQ1
6 cardiac conduction GO:0061337 9.77 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
7 regulation of membrane repolarization GO:0060306 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
8 cardiac muscle contraction GO:0060048 9.75 KCNH2 KCNQ1 SCN5A
9 membrane repolarization GO:0086009 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
10 regulation of potassium ion transmembrane transport GO:1901379 9.72 KCNE1 KCNE2 KCNH2
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 KCNE1 KCNE2 SCN5A
12 potassium ion export GO:0071435 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.7 KCNE1 KCNH2 KCNQ1
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.69 KCNE1 KCNH2 KCNQ1
15 atrial cardiac muscle cell action potential GO:0086014 9.67 ANK2 KCNQ1 SCN5A
16 cellular response to cAMP GO:0071320 9.65 KCNE1 KCNQ1
17 regulation of heart rate GO:0002027 9.64 ANK2 SCN5A
18 membrane depolarization during action potential GO:0086010 9.64 KCNH2 SCN5A
19 regulation of cardiac muscle cell contraction GO:0086004 9.63 ANK2 SCN5A
20 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.63 KCNE1 KCNE2
21 regulation of heart rate by cardiac conduction GO:0086091 9.63 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 regulation of delayed rectifier potassium channel activity GO:1902259 9.62 KCNE1 KCNE2
23 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 KCNQ1 SCN5A
24 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
25 SA node cell action potential GO:0086015 9.61 ANK2 SCN5A
26 membrane depolarization during SA node cell action potential GO:0086046 9.61 ANK2 SCN5A
27 potassium ion export across plasma membrane GO:0097623 9.59 KCNH2 KCNQ1
28 membrane repolarization during action potential GO:0086011 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
29 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 ventricular cardiac muscle cell action potential GO:0086005 9.1 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.71 KCNE2 KCNH2 KCNQ1 SCN5A
2 ion channel binding GO:0044325 9.67 ANK2 KCNE2 KCNQ1 SCN5A
3 potassium channel activity GO:0005267 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
4 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
5 voltage-gated potassium channel activity GO:0005249 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
6 potassium channel regulator activity GO:0015459 9.48 KCNE1 KCNE2
7 inward rectifier potassium channel activity GO:0005242 9.46 KCNE2 KCNH2
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.33 KCNE1 KCNH2 KCNQ1
9 delayed rectifier potassium channel activity GO:0005251 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.92 KCNE1 KCNE2 KCNH2 KCNQ1
Sources

Sources for Long Qt Syndrome 3

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