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LQT5
MCID: LNG050
MIFTS: 45

Long Qt Syndrome 5 (LQT5)

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

Aliases & Classifications for Long Qt Syndrome 5

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MalaCards integrated aliases for Long Qt Syndrome 5:

Name: Long Qt Syndrome 5 57 12 20 72 29 6 15 70
Lqt5 57 12 20 72
Long Qt Syndrome 5, Acquired, Susceptibility to 6
Susceptibility to Acquired Long Qt Syndrome 5 72
Qt Syndrome, Long, Type 5 39
Long Qt Syndrome 2/5 72
Long Qt Syndrome 2-5 70
Long Qt Syndrome-5 13
Lqt2/5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
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 lqt-related gene
homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome


HPO:

31
long qt syndrome 5:
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:0110647
OMIM® 57 613695
OMIM Phenotypic Series 57 PS192500
MeSH 44 D008133
ICD10 32 I45.8
UMLS 70 C1867904 C3501851
Sources

Summaries for Long Qt Syndrome 5

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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). (613695) (Updated 05-Apr-2021)

MalaCards based summary : Long Qt Syndrome 5, also known as lqt5, is related to ventricular fibrillation, paroxysmal familial, 1 and jervell and lange-nielsen syndrome 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome 5 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, 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 KCNE1 gene on chromosome 21q22.12.

UniProtKB/Swiss-Prot : 72 Long QT syndrome 5: 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.

Sources

Related Diseases for Long Qt Syndrome 5

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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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 29.3 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
2 jervell and lange-nielsen syndrome 1 26.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
3 long qt syndrome 26.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
4 long qt syndrome 2 26.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
5 periodic paralysis 10.1 KCNJ2 KCNE3
6 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
7 syncope 10.1 SCN5A KCNQ1 KCNH2
8 properdin deficiency, x-linked 10.1 KCNJ2 KCNH2
9 progressive familial heart block, type ia 10.1 SCN5A ANK2
10 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
11 brugada syndrome 6 10.1 SCN5A KCNE3
12 first-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
13 third-degree atrioventricular block 10.0 SCN5A KCNJ2 KCNH2
14 brugada syndrome 1 10.0 SCN5A KCNH2 AKAP9
15 periodic paralyses 10.0 KCNJ2 KCNE3
16 noonan syndrome with multiple lentigines 10.0 SCN5A KCNQ1 KCNH2
17 idiopathic ventricular fibrillation, non brugada type 10.0 SCN5A CACNA1C
18 vestibular disease 9.9 KCNE3 KCNE1
19 brugada syndrome 3 9.9 KCNE2 CACNA1C ANK2
20 long qt syndrome 15 9.9 KCNJ2 KCNE1 CACNA1C
21 peripheral vertigo 9.9 KCNE3 KCNE1
22 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2 KCNE3
23 cardiac conduction defect 9.9 SCN5A KCNQ1 CACNA1C
24 neuromuscular junction disease 9.9 SCN5A KCNH2 CACNA1C
25 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2 KCNE3
26 meniere disease 9.8 KCNE3 KCNE1
27 progressive familial heart block 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
28 cardiac arrest 9.8 SCN5A KCNQ1 KCNH2 ANK2 AKAP9
29 congestive heart failure 9.8 SCN5A KCNQ1 CACNA1C
30 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
31 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.7 SCN5A KCNQ1 KCNH2 CACNA1C
32 isolated elevated serum creatine phosphokinase levels 9.7 SCN5A CAV3 CACNA1C
33 chromosome 2q35 duplication syndrome 9.7 KCNQ1 KCNJ2 KCNH2 CACNA1C
34 sick sinus syndrome 9.7 SNTA1 SCN5A CACNA1C ANK2
35 right bundle branch block 9.6 SCN5A KCNH2 KCNE3 CACNA1C
36 malignant hyperthermia 9.6 SCN5A KCNH2 CAV3 CACNA1C
37 lipoprotein quantitative trait locus 9.6 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
38 familial periodic paralysis 9.6 SCN5A KCNJ2 KCNE3 CACNA1C
39 long qt syndrome 14 9.6 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
40 brugada syndrome 4 9.6 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
41 cardiomyopathy, familial hypertrophic, 1 9.5 SCN5A KCNH2 CAV3 CACNA1C
42 atrioventricular block 9.5 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
43 early infantile epileptic encephalopathy 9.5 SCN5A SCN4B KCNQ1 KCNH2 CACNA1C
44 deafness, autosomal recessive 98 9.4 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
45 arrhythmogenic right ventricular cardiomyopathy 9.4 SCN5A KCNH2 KCNE1 CACNA1C ANK2 AKAP9
46 sinoatrial node disease 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C ANK2
47 myasthenic syndrome, congenital, 5 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
48 cardiac arrhythmia 9.3 SCN5A KCNQ1 KCNH2 KCNE2 CACNA1C ANK2
49 left ventricular noncompaction 9.2 SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
50 heart disease 9.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Long Qt Syndrome 5:



Diseases related to Long Qt Syndrome 5
Sources

Symptoms & Phenotypes for Long Qt Syndrome 5

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Human phenotypes related to Long Qt Syndrome 5:

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-Apr-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

613695 (Updated 05-Apr-2021)

UMLS symptoms related to Long Qt Syndrome 5:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1C CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
Sources

Drugs & Therapeutics for Long Qt Syndrome 5

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Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 5

Sources

Genetic Tests for Long Qt Syndrome 5

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Genetic tests related to Long Qt Syndrome 5:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 5 29 KCNE1
Sources

Anatomical Context for Long Qt Syndrome 5

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MalaCards organs/tissues related to Long Qt Syndrome 5:

40
Heart
Sources

Publications for Long Qt Syndrome 5

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Articles related to Long Qt Syndrome 5:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Compound mutations: a common cause of severe long-QT syndrome. 57 6
15051636 2004
2
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 6 57
14760488 2004
3
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 57 6
9354802 1997
4
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 6 61
19716085 2009
5
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 57 61
15840476 2005
6
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 6 61
9445165 1998
7
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57
16922724 2006
8
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. 6
16823764 2006
9
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 6
12566567 2003
10
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. 6
11874988 2002
11
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 57
10973849 2000
12
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
13
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 6
9354783 1997
14
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. 6
8899564 1996
15
[Analyses of triggers for recurrent cardiac events in 38 patients with symptomatic long QT syndrome]. 61
33611903 2021
16
Transgenic LQT2, LQT5, and LQT2-5 rabbit models with decreased repolarisation reserve for prediction of drug-induced ventricular arrhythmias. 61
32436214 2020
17
Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit. 61
32058015 2020
18
Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1gene. 61
32344329 2020
19
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. 61
31941373 2020
20
A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity. 61
31679457 2019
21
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. 61
29625280 2018
22
A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant-negative mutation of the KCNE1 gene. 61
27076034 2016
23
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 61
26675252 2015
24
Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI). 61
25294783 2014
25
LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. 61
21712262 2011
26
Mechanisms of disease pathogenesis in long QT syndrome type 5. 61
19907016 2010
27
Arrhythmia phenotype in mouse models of human long QT. 61
19148726 2009
28
Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 61
19340287 2009
29
Anti-arrhythmic effects of cyclopiazonic acid in Langendorff-perfused murine hearts. 61
19351518 2008
30
The role of abnormal trafficking of KCNE1 in long QT syndrome 5. 61
17956282 2007
31
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome. 61
17341399 2007
32
Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5. 61
17095567 2007
33
Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function. 61
16945797 2006
34
The heterogeneous spectrum of the long QT syndrome. 61
16762771 2006
35
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 61
16818210 2006
36
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 61
16818214 2006
37
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 61
16253912 2005
38
Implantable cardioverter-defibrillator therapy in patients with congenital long-QT syndrome: a long-term follow-up. 61
15840474 2005
39
Single nucleotide polymorphism map of five long-QT genes. 61
15599693 2005
40
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 61
15466642 2004
41
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. 61
15242738 2004
42
An LQT mutant minK alters KvLQT1 trafficking. 61
14761891 2004
43
Analysis of candidate genes for genotypic diagnosis in the long QT syndrome. 61
15306731 2004
44
Cardiac channelopathies: from men to mice. 61
15176421 2004
45
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 61
14661677 2003
46
[Value of genetic testing in the management of the congenital long QT syndrome]. 61
12838849 2003
47
Molecular genetic studies in atrial fibrillation. 61
14631130 2003
48
Inhibition of cardiac delayed rectifier K+ currents by an antisense oligodeoxynucleotide against IsK (minK) and over-expression of IsK mutant D77N in neonatal mouse hearts. 61
11484762 2001
49
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. 61
11104743 2000
50
The long QT syndromes: genetic basis and clinical implications. 61
10898405 2000
Sources

Variations for Long Qt Syndrome 5

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ClinVar genetic disease variations for Long Qt Syndrome 5:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely benign, risk factor 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
2 KCNE1 NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) SNV Pathogenic 132676 rs199473362 GRCh37: 21:35821641-35821641
GRCh38: 21:34449343-34449343
3 KCNE1 NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) SNV Pathogenic 13478 rs74315446 GRCh37: 21:35821712-35821712
GRCh38: 21:34449414-34449414
4 KCNE1 NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) Deletion Likely pathogenic 598781 rs1568836457 GRCh37: 21:35821753-35821767
GRCh38: 21:34449455-34449469
5 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
6 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV risk factor 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
7 KCNE1 NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) SNV Uncertain significance 132673 rs199473360 GRCh37: 21:35821686-35821686
GRCh38: 21:34449388-34449388
8 KCNE1 NM_000219.6(KCNE1):c.-5C>A SNV Uncertain significance 504745 rs191334763 GRCh37: 21:35821937-35821937
GRCh38: 21:34449639-34449639
9 KCNE1 NM_000219.6(KCNE1):c.*278A>T SNV Uncertain significance 896877 GRCh37: 21:35821265-35821265
GRCh38: 21:34448967-34448967
10 KCNE1 NM_000219.6(KCNE1):c.*366A>C SNV Uncertain significance 896876 GRCh37: 21:35821177-35821177
GRCh38: 21:34448879-34448879
11 KCNE1 NM_000219.6(KCNE1):c.*1078G>A SNV Uncertain significance 896808 GRCh37: 21:35820465-35820465
GRCh38: 21:34448167-34448167
12 KCNE1 NM_000219.6(KCNE1):c.*1857G>A SNV Uncertain significance 896751 GRCh37: 21:35819686-35819686
GRCh38: 21:34447388-34447388
13 KCNE1 NM_000219.6(KCNE1):c.*2393C>T SNV Uncertain significance 896696 GRCh37: 21:35819150-35819150
GRCh38: 21:34446852-34446852
14 KCNE1 NM_000219.6(KCNE1):c.*375C>T SNV Uncertain significance 895472 GRCh37: 21:35821168-35821168
GRCh38: 21:34448870-34448870
15 KCNE1 NM_000219.6(KCNE1):c.*2475A>G SNV Uncertain significance 895258 GRCh37: 21:35819068-35819068
GRCh38: 21:34446770-34446770
16 KCNE1 NM_000219.6(KCNE1):c.54G>A (p.Gln18=) SNV Uncertain significance 339772 rs149875299 GRCh37: 21:35821879-35821879
GRCh38: 21:34449581-34449581
17 KCNE1 NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) SNV Uncertain significance 132678 rs77442996 GRCh37: 21:35821608-35821608
GRCh38: 21:34449310-34449310
18 KCNE1 NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) SNV Uncertain significance 898534 GRCh37: 21:35821586-35821586
GRCh38: 21:34449288-34449288
19 KCNE1 NM_000219.6(KCNE1):c.*1539C>A SNV Uncertain significance 898400 GRCh37: 21:35820004-35820004
GRCh38: 21:34447706-34447706
20 KCNE1 NM_000219.6(KCNE1):c.*1542G>A SNV Uncertain significance 898399 GRCh37: 21:35820001-35820001
GRCh38: 21:34447703-34447703
21 KCNE1 NM_000219.6(KCNE1):c.*960C>T SNV Uncertain significance 897296 GRCh37: 21:35820583-35820583
GRCh38: 21:34448285-34448285
22 KCNE1 NM_000219.6(KCNE1):c.*2206G>A SNV Uncertain significance 897147 GRCh37: 21:35819337-35819337
GRCh38: 21:34447039-34447039
23 KCNE1 NM_000219.6(KCNE1):c.*2298C>G SNV Uncertain significance 897146 GRCh37: 21:35819245-35819245
GRCh38: 21:34446947-34446947
24 KCNE1 NM_000219.6(KCNE1):c.335A>G (p.His112Arg) SNV Uncertain significance 692249 rs1352531511 GRCh37: 21:35821598-35821598
GRCh38: 21:34449300-34449300
25 KCNE1 NM_000219.6(KCNE1):c.*1290G>A SNV Uncertain significance 895411 GRCh37: 21:35820253-35820253
GRCh38: 21:34447955-34447955
26 KCNE1 NM_000219.6(KCNE1):c.-334G>A SNV Uncertain significance 897027 GRCh37: 21:35883571-35883571
GRCh38: 21:34511273-34511273
27 KCNE1 NM_000219.6(KCNE1):c.-24A>G SNV Uncertain significance 897437 GRCh37: 21:35821956-35821956
GRCh38: 21:34449658-34449658
28 KCNE1 NM_000219.6(KCNE1):c.-521G>A SNV Uncertain significance 897503 GRCh37: 21:35884469-35884469
GRCh38: 21:34512171-34512171
29 KCNE1 NM_000219.6(KCNE1):c.*2329C>A SNV Uncertain significance 339725 rs373970167 GRCh37: 21:35819214-35819214
GRCh38: 21:34446916-34446916
30 KCNE1 NM_000219.6(KCNE1):c.*2001G>A SNV Uncertain significance 339733 rs41314799 GRCh37: 21:35819542-35819542
GRCh38: 21:34447244-34447244
31 KCNE1 NM_000219.6(KCNE1):c.*1701A>G SNV Uncertain significance 339741 rs886057017 GRCh37: 21:35819842-35819842
GRCh38: 21:34447544-34447544
32 KCNE1 NM_000219.6(KCNE1):c.-101A>T SNV Uncertain significance 339777 rs74706643 GRCh37: 21:35831002-35831002
GRCh38: 21:34458704-34458704
33 KCNE1 NM_000219.6(KCNE1):c.-170C>T SNV Uncertain significance 898605 GRCh37: 21:35883407-35883407
GRCh38: 21:34511109-34511109
34 KCNE1 NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) SNV Uncertain significance 854638 GRCh37: 21:35821754-35821754
GRCh38: 21:34449456-34449456
35 KCNE1 NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) SNV Uncertain significance 132670 rs199473348 GRCh37: 21:35821910-35821910
GRCh38: 21:34449612-34449612
36 KCNE1 NM_000219.6(KCNE1):c.*2320G>T SNV Uncertain significance 339726 rs745512218 GRCh37: 21:35819223-35819223
GRCh38: 21:34446925-34446925
37 KCNE1 NM_000219.6(KCNE1):c.-57T>C SNV Uncertain significance 339774 rs886057025 GRCh37: 21:35830958-35830958
GRCh38: 21:34458660-34458660
38 KCNE1 NM_000219.6(KCNE1):c.-432G>A SNV Uncertain significance 339784 rs539503433 GRCh37: 21:35884380-35884380
GRCh38: 21:34512082-34512082
39 KCNE1 NM_000219.6(KCNE1):c.*373A>G SNV Uncertain significance 339765 rs41314805 GRCh37: 21:35821170-35821170
GRCh38: 21:34448872-34448872
40 KCNE1 NM_000219.6(KCNE1):c.*30C>G SNV Uncertain significance 339771 rs150963475 GRCh37: 21:35821513-35821513
GRCh38: 21:34449215-34449215
41 KCNE1 NM_000219.6(KCNE1):c.-530G>A SNV Uncertain significance 339788 rs886057027 GRCh37: 21:35884478-35884478
GRCh38: 21:34512180-34512180
42 KCNE1 NM_000219.6(KCNE1):c.-82T>G SNV Uncertain significance 339775 rs145416040 GRCh37: 21:35830983-35830983
GRCh38: 21:34458685-34458685
43 KCNE1 NM_000219.6(KCNE1):c.*2008G>A SNV Uncertain significance 339731 rs886057011 GRCh37: 21:35819535-35819535
GRCh38: 21:34447237-34447237
44 KCNE1 NM_000219.6(KCNE1):c.*995G>C SNV Uncertain significance 339755 rs886057023 GRCh37: 21:35820548-35820548
GRCh38: 21:34448250-34448250
45 KCNE1 NM_000219.6(KCNE1):c.-225G>C SNV Uncertain significance 339778 rs886057026 GRCh37: 21:35883462-35883462
GRCh38: 21:34511164-34511164
46 KCNE1 NM_000219.6(KCNE1):c.*196C>G SNV Uncertain significance 339767 rs76568182 GRCh37: 21:35821347-35821347
GRCh38: 21:34449049-34449049
47 KCNE1 NM_000219.6(KCNE1):c.*2413T>A SNV Uncertain significance 339724 rs747442476 GRCh37: 21:35819130-35819130
GRCh38: 21:34446832-34446832
48 KCNE1 NM_000219.6(KCNE1):c.*1556G>A SNV Uncertain significance 339745 rs886057019 GRCh37: 21:35819987-35819987
GRCh38: 21:34447689-34447689
49 KCNE1 NM_000219.6(KCNE1):c.-13C>T SNV Uncertain significance 339773 rs745925445 GRCh37: 21:35821945-35821945
GRCh38: 21:34449647-34449647
50 KCNE1 NM_000219.6(KCNE1):c.*1832C>T SNV Uncertain significance 339738 rs886057016 GRCh37: 21:35819711-35819711
GRCh38: 21:34447413-34447413

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 5:

72
# Symbol AA change Variation ID SNP ID
1 KCNE1 p.Ser74Leu VAR_008900 rs74315446
2 KCNE1 p.Asp76Asn VAR_008901 rs74315445
3 KCNE1 p.Trp87Arg VAR_008903 rs199473361
4 KCNE1 p.Arg98Trp VAR_009907 rs199473362
5 KCNE1 p.Pro127Thr VAR_009908 rs199473647

Sources

Expression for Long Qt Syndrome 5

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Search GEO for disease gene expression data for Long Qt Syndrome 5.
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Pathways for Long Qt Syndrome 5

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Pathways related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 SCN5A SCN4B KCNQ1 KCNE1 CACNA1C
2
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.22 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
3
Cardiac conduction 65
Show member pathways
 12.13 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
5
Potassium Channels 65
Show member pathways
 11.82 KCNQ1 KCNJ2 KCNH2
6
L1CAM interactions 65
Show member pathways
 11.73 SCN5A SCN4B ANK2
7
Phase 0 - rapid depolarisation 65
Show member pathways
 11.68 SCN5A SCN4B KCNQ1 KCNE5 KCNE3 KCNE2
8
Antiarrhythmic Pathway, Pharmacodynamics 60
11.44 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
9
Interaction between L1 and Ankyrins 65
11.09 SCN5A SCN4B ANK2
10
TarBasePathway 1
10.82 KCNQ1 KCNJ2 KCNE1
Sources

GO Terms for Long Qt Syndrome 5

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Cellular components related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 integral component of membrane GO:0016021 10.24 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
3 plasma membrane GO:0005886 10.18 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
4 cell surface GO:0009986 9.88 SCN5A KCNH2 KCNE2 KCNE1 CAV3
5 lysosome GO:0005764 9.83 KCNQ1 KCNE2 KCNE1 ANK2
6 membrane raft GO:0045121 9.8 KCNQ1 KCNE3 KCNE1 CAV3 ANK2
7 postsynaptic membrane GO:0045211 9.72 SNTA1 CACNA1C ANK2
8 Z disc GO:0030018 9.72 SCN5A KCNE1 CAV3 CACNA1C ANK2
9 sarcolemma GO:0042383 9.65 SNTA1 SCN5A CAV3 CACNA1C ANK2
10 lateral plasma membrane GO:0016328 9.63 SNTA1 SCN5A KCNQ1
11 intercalated disc GO:0014704 9.55 SCN5A SCN4B KCNJ2 CAV3 ANK2
12 dystrophin-associated glycoprotein complex GO:0016010 9.51 SNTA1 CAV3
13 voltage-gated sodium channel complex GO:0001518 9.49 SCN5A SCN4B
14 T-tubule GO:0030315 9.35 SCN5A KCNJ2 CAV3 CACNA1C ANK2
15 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2

Biological processes related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.22 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
2 potassium ion transport GO:0006813 10.07 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
3 potassium ion transmembrane transport GO:0071805 10.06 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
4 cardiac muscle contraction GO:0060048 9.96 SCN5A SCN4B KCNQ1 KCNH2 KCNE5
5 potassium ion export across plasma membrane GO:0097623 9.95 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
6 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.93 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.93 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
8 cardiac conduction GO:0061337 9.92 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 regulation of heart rate GO:0002027 9.91 SNTA1 SCN5A CAV3 ANK2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.91 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
12 membrane repolarization during action potential GO:0086011 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
13 regulation of ion transmembrane transport GO:0034765 9.91 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE3
14 regulation of potassium ion transmembrane transport GO:1901379 9.9 KCNH2 KCNE5 KCNE2 KCNE1
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.89 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN4B KCNJ2 CACNA1C
17 regulation of membrane repolarization GO:0060306 9.88 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 AKAP9
18 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
19 cellular response to drug GO:0035690 9.85 KCNQ1 KCNH2 KCNE2
20 cellular response to cAMP GO:0071320 9.85 KCNQ1 KCNE1 AKAP9
21 atrial cardiac muscle cell action potential GO:0086014 9.85 SCN5A KCNQ1 KCNE5 ANK2
22 ventricular cardiac muscle cell action potential GO:0086005 9.85 SNTA1 SCN5A KCNQ1 KCNH2 KCNE5 KCNE3
23 potassium ion import across plasma membrane GO:1990573 9.83 KCNJ2 KCNH2 KCNE2
24 regulation of heart contraction GO:0008016 9.82 KCNQ1 KCNE5 CAV3
25 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
26 negative regulation of potassium ion transmembrane transport GO:1901380 9.8 KCNH2 KCNE5 CAV3
27 negative regulation of voltage-gated potassium channel activity GO:1903817 9.8 KCNQ1 KCNE3 KCNE2
28 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.79 SCN5A KCNQ1 KCNE5
29 negative regulation of potassium ion export across plasma membrane GO:1903765 9.78 KCNH2 KCNE5 KCNE3
30 regulation of heart rate by cardiac conduction GO:0086091 9.73 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
31 regulation of calcium ion transport GO:0051924 9.71 CAV3 ANK2
32 positive regulation of microtubule polymerization GO:0031116 9.71 CAV3 AKAP9
33 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.71 CACNA1C ANK2
34 regulation of cardiac muscle contraction GO:0055117 9.7 CAV3 ANK2
35 regulation of sodium ion transmembrane transporter activity GO:2000649 9.7 SCN4B CAV3
36 membrane depolarization during action potential GO:0086010 9.7 SCN5A KCNH2
37 positive regulation of sodium ion transport GO:0010765 9.7 SCN5A SCN4B
38 T-tubule organization GO:0033292 9.69 CAV3 ANK2
39 regulation of sodium ion transmembrane transport GO:1902305 9.69 SNTA1 SCN5A
40 positive regulation of voltage-gated calcium channel activity GO:1901387 9.69 KCNE3 KCNE2
41 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.68 CAV3 AKAP9
42 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
43 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.68 SCN5A CAV3
44 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.67 ANK2 AKAP9
45 membrane depolarization during SA node cell action potential GO:0086046 9.67 SCN5A ANK2
46 membrane depolarization during AV node cell action potential GO:0086045 9.66 SCN5A CACNA1C
47 SA node cell action potential GO:0086015 9.66 SCN5A ANK2
48 AV node cell action potential GO:0086016 9.65 SCN5A SCN4B
49 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.65 SCN5A CACNA1C
50 regulation of calcium ion transmembrane transporter activity GO:1901019 9.64 CAV3 ANK2

Molecular functions related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.42 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 voltage-gated potassium channel activity GO:0005249 9.85 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
3 calmodulin binding GO:0005516 9.84 SNTA1 SCN5A KCNQ1 CACNA1C
4 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
5 ion channel activity GO:0005216 9.81 SCN5A KCNQ1 KCNH2 CACNA1C
6 potassium channel regulator activity GO:0015459 9.8 KCNE5 KCNE3 KCNE2 KCNE1 AKAP9
7 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
8 scaffold protein binding GO:0097110 9.72 SCN5A KCNQ1 KCNH2
9 sodium channel regulator activity GO:0017080 9.67 SNTA1 SCN4B CAV3
10 inward rectifier potassium channel activity GO:0005242 9.65 KCNJ2 KCNH2 KCNE2
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.65 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
12 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A CAV3
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.63 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
14 voltage-gated ion channel activity GO:0005244 9.61 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE3
15 sodium channel activity GO:0005272 9.58 SCN5A SCN4B
16 protein kinase A regulatory subunit binding GO:0034237 9.57 KCNQ1 AKAP9
17 voltage-gated sodium channel activity GO:0005248 9.56 SCN5A SCN4B
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.52 SCN5A SCN4B
19 ion channel binding GO:0044325 9.36 SNTA1 SCN5A SCN4B KCNQ1 KCNE5 KCNE3
Sources

Sources for Long Qt Syndrome 5

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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