LQT5
MCID: LNG050
MIFTS: 47

Long Qt Syndrome 5 (LQT5)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 5

MalaCards integrated aliases for Long Qt Syndrome 5:

Name: Long Qt Syndrome 5 57 11 19 73 28 5 43 14 71
Lqt5 57 11 19 73
Long Qt Syndrome 5, Acquired, Susceptibility to 5
Susceptibility to Acquired Long Qt Syndrome 5 73
Qt Syndrome, Long, Type 5 38
Long Qt Syndrome 2/5 73
Long Qt Syndrome 2-5 71
Long Qt Syndrome-5 12
Lqt2/5 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0110647
OMIM® 57 613695
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
UMLS 71 C1867904 C3501851

Summaries for Long Qt Syndrome 5

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

MalaCards based summary: Long Qt Syndrome 5, also known as lqt5, is related to familial long qt syndrome and ventricular fibrillation, paroxysmal familial, 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 Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart and heart-ventricle, and related phenotypes are sinus bradycardia and ventricular fibrillation

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.

Related Diseases for Long Qt Syndrome 5

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 72)
# Related Disease Score Top Affiliating Genes
1 familial long qt syndrome 29.9 SCN5A KCNQ1 KCNH2 KCNE1
2 ventricular fibrillation, paroxysmal familial, 1 29.3 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
3 long qt syndrome 26.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
4 long qt syndrome 2 26.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
5 long qt syndrome 1 26.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
6 jervell and lange-nielsen syndrome 1 26.4 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
7 second-degree atrioventricular block 10.2 SCN5A KCNH2
8 progressive familial heart block 10.1 SCN5A KCNQ1
9 progressive familial heart block, type ia 10.1 SCN5A ANK2
10 diamond-blackfan anemia 3 10.1 SCN5A KCNH2
11 trichothiodystrophy 7, nonphotosensitive 10.1 SCN5A KCNH2
12 periodic paralysis 10.1 KCNJ2 KCNE3
13 syncope 10.1 SCN5A KCNQ1 KCNH2
14 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
15 ventricular tachycardia, catecholaminergic polymorphic, 3 10.1 KCNJ2 ANK2
16 brugada syndrome 6 10.1 SCN5A KCNE3
17 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
18 noonan syndrome with multiple lentigines 10.1 SCN5A KCNQ1 KCNH2
19 cardiomyopathy, familial hypertrophic, 4 10.1 ANK2 AKAP9
20 brugada syndrome 1 10.1 SCN5A KCNH2
21 wolff-parkinson-white syndrome 10.0 SCN5A KCNQ1 KCNH2
22 first-degree atrioventricular block 10.0 SCN5A KCNJ2 KCNH2
23 cardiac arrest 10.0 SCN5A KCNQ1 KCNH2
24 generalized epilepsy with febrile seizures plus 9.9 SCN5A SCN4B ANK2
25 brugada syndrome 3 9.9 KCNE2 CACNA1C ANK2
26 cardiac conduction defect 9.9 SCN5A KCNQ1 CACNA1C
27 sick sinus syndrome 9.9 SCN5A KCNE1 CACNA1C
28 cardiomyopathy, dilated, 3b 9.9 SNTA1 CAV3
29 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2 KCNE3
30 congestive heart failure 9.9 SCN5A KCNQ1 KCNJ2 KCNE2
31 hyperkalemic periodic paralysis 9.9 SCN5A KCNJ2 KCNE3
32 peripheral vertigo 9.9 KCNE3 KCNE1
33 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 CACNA1C ANK2
34 meniere disease 9.8 KCNE3 KCNE1
35 isolated elevated serum creatine phosphokinase levels 9.7 SCN5A CAV3 CACNA1C
36 rasopathy 9.7 SCN5A KCNQ1 KCNH2 CACNA1C
37 malignant hyperthermia 9.7 SCN5A CAV3 CACNA1C
38 right bundle branch block 9.6 SCN5A KCNH2 KCNE3 CACNA1C
39 arrhythmogenic right ventricular cardiomyopathy 9.6 SCN5A KCNQ1 KCNH2 CACNA1C ANK2
40 familial periodic paralysis 9.6 SCN5A KCNJ2 KCNE3 CACNA1C
41 brugada syndrome 4 9.6 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
42 long qt syndrome 15 9.6 SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
43 cardiomyopathy, familial hypertrophic, 1 9.5 SCN5A KCNQ1 KCNH2 CAV3 CACNA1C
44 long qt syndrome 14 9.5 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
45 deafness, autosomal recessive 98 9.5 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
46 lipoprotein quantitative trait locus 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
47 sudden infant death syndrome 9.4 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
48 atrioventricular block 9.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
49 sinoatrial node disease 9.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
50 heart disease 9.3 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

Symptoms & Phenotypes for Long Qt Syndrome 5

Human phenotypes related to Long Qt Syndrome 5:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinus bradycardia 30 Very rare (1%) HP:0001688
2 ventricular fibrillation 30 Very rare (1%) HP:0001663
3 prolonged qtc interval 30 Very rare (1%) HP:0005184
4 sudden cardiac death 30 HP:0001645
5 syncope 30 HP:0001279
6 torsade de pointes 30 HP:0001664

Symptoms via clinical synopsis from OMIM®:

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

Clinical features from OMIM®:

613695 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 5:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.91 ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2
2 homeostasis/metabolism MP:0005376 9.9 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3 growth/size/body region MP:0005378 9.65 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
4 cardiovascular system MP:0005385 9.28 ANK2 CACNA1C CAV3 KCNE1 KCNE3 KCNH2

Drugs & Therapeutics for Long Qt Syndrome 5

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

Cochrane evidence based reviews: long qt syndrome 5

Genetic Tests for Long Qt Syndrome 5

Genetic tests related to Long Qt Syndrome 5:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 5 28 KCNE1

Anatomical Context for Long Qt Syndrome 5

Organs/tissues related to Long Qt Syndrome 5:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 5

Articles related to Long Qt Syndrome 5:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 57 5
15840476 2005
2
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57 5
16922724 2006
3
Compound mutations: a common cause of severe long-QT syndrome. 57 5
15051636 2004
4
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 57 5
14760488 2004
5
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 57 5
10973849 2000
6
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 57 5
9354802 1997
7
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 62 5
19716085 2009
8
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 62 5
9445165 1998
9
Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression. 5
33693037 2021
10
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. 5
16823764 2006
11
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 5
12566567 2003
12
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. 5
11874988 2002
13
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
14
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 5
9354783 1997
15
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. 5
8899564 1996
16
Polymorphism of the gene encoding a human minimal potassium ion channel (minK). 5
7828904 1994
17
Docosahexaenoic acid normalizes QT interval in long QT type 2 transgenic rabbit models in a genotype-specific fashion. 62
34601592 2022
18
[Analyses of triggers for recurrent cardiac events in 38 patients with symptomatic long QT syndrome]. 62
33611903 2021
19
Transgenic LQT2, LQT5, and LQT2-5 rabbit models with decreased repolarisation reserve for prediction of drug-induced ventricular arrhythmias. 62
32436214 2020
20
Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit. 62
32058015 2020
21
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. 62
32344329 2020
22
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. 62
31941373 2020
23
A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity. 62
31679457 2019
24
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. 62
29625280 2018
25
A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant-negative mutation of the KCNE1 gene. 62
27076034 2016
26
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 62
26675252 2015
27
Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI). 62
25294783 2014
28
LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. 62
21712262 2011
29
Mechanisms of disease pathogenesis in long QT syndrome type 5. 62
19907016 2010
30
Arrhythmia phenotype in mouse models of human long QT. 62
19148726 2009
31
Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 62
19340287 2009
32
Anti-arrhythmic effects of cyclopiazonic acid in Langendorff-perfused murine hearts. 62
19351518 2008
33
The role of abnormal trafficking of KCNE1 in long QT syndrome 5. 62
17956282 2007
34
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome. 62
17341399 2007
35
Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5. 62
17095567 2007
36
Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function. 62
16945797 2006
37
The heterogeneous spectrum of the long QT syndrome. 62
16762771 2006
38
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 62
16818210 2006
39
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 62
16818214 2006
40
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 62
16253912 2005
41
Implantable cardioverter-defibrillator therapy in patients with congenital long-QT syndrome: a long-term follow-up. 62
15840474 2005
42
Single nucleotide polymorphism map of five long-QT genes. 62
15599693 2005
43
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 62
15466642 2004
44
Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. 62
15242738 2004
45
An LQT mutant minK alters KvLQT1 trafficking. 62
14761891 2004
46
Analysis of candidate genes for genotypic diagnosis in the long QT syndrome. 62
15306731 2004
47
Cardiac channelopathies: from men to mice. 62
15176421 2004
48
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 62
14661677 2003
49
[Value of genetic testing in the management of the congenital long QT syndrome]. 62
12838849 2003
50
Molecular genetic studies in atrial fibrillation. 62
14631130 2003

Variations for Long Qt Syndrome 5

ClinVar genetic disease variations for Long Qt Syndrome 5:

5 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely Benign; Risk Factor
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.31_118del (p.Pro11fs) DEL Likely Pathogenic
1202620 GRCh37: 21:35821815-35821902
GRCh38: 21:34449517-34449604
5 KCNE1 NM_000219.6(KCNE1):c.106dup (p.Arg36fs) DUP Likely Pathogenic
1705696 GRCh37: 21:35821826-35821827
GRCh38: 21:34449528-34449529
6 KCNE1 NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) DEL Likely Pathogenic
598781 rs1568836457 GRCh37: 21:35821753-35821767
GRCh38: 21:34449455-34449469
7 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely Pathogenic
13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
8 KCNE1 NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) SNV Uncertain Significance
132670 rs199473348 GRCh37: 21:35821910-35821910
GRCh38: 21:34449612-34449612
9 KCNE1 NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) SNV Uncertain Significance
132678 rs77442996 GRCh37: 21:35821608-35821608
GRCh38: 21:34449310-34449310
10 KCNE1 NM_000219.6(KCNE1):c.*2329C>A SNV Uncertain Significance
339725 rs373970167 GRCh37: 21:35819214-35819214
GRCh38: 21:34446916-34446916
11 KCNE1 NM_000219.6(KCNE1):c.*2001G>A SNV Uncertain Significance
339733 rs41314799 GRCh37: 21:35819542-35819542
GRCh38: 21:34447244-34447244
12 KCNE1 NM_000219.6(KCNE1):c.*30C>G SNV Uncertain Significance
339771 rs150963475 GRCh37: 21:35821513-35821513
GRCh38: 21:34449215-34449215
13 KCNE1 NM_000219.6(KCNE1):c.-530G>A SNV Uncertain Significance
339788 rs886057027 GRCh37: 21:35884478-35884478
GRCh38: 21:34512180-34512180
14 KCNE1 NM_000219.6(KCNE1):c.-82T>G SNV Uncertain Significance
339775 rs145416040 GRCh37: 21:35830983-35830983
GRCh38: 21:34458685-34458685
15 KCNE1 NM_000219.6(KCNE1):c.*2008G>A SNV Uncertain Significance
339731 rs886057011 GRCh37: 21:35819535-35819535
GRCh38: 21:34447237-34447237
16 KCNE1 NM_000219.6(KCNE1):c.*1701A>G SNV Uncertain Significance
339741 rs886057017 GRCh37: 21:35819842-35819842
GRCh38: 21:34447544-34447544
17 KCNE1 NM_000219.6(KCNE1):c.-101A>T SNV Uncertain Significance
339777 rs74706643 GRCh37: 21:35831002-35831002
GRCh38: 21:34458704-34458704
18 KCNE1 NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) SNV Uncertain Significance
132673 rs199473360 GRCh37: 21:35821686-35821686
GRCh38: 21:34449388-34449388
19 KCNE1 NM_000219.6(KCNE1):c.335A>G (p.His112Arg) SNV Uncertain Significance
692249 rs1352531511 GRCh37: 21:35821598-35821598
GRCh38: 21:34449300-34449300
20 KCNE1 NM_000219.6(KCNE1):c.54G>A (p.Gln18=) SNV Uncertain Significance
339772 rs149875299 GRCh37: 21:35821879-35821879
GRCh38: 21:34449581-34449581
21 KCNE1 NM_000219.6(KCNE1):c.-5C>A SNV Uncertain Significance
504745 rs191334763 GRCh37: 21:35821937-35821937
GRCh38: 21:34449639-34449639
22 KCNE1 NM_000219.6(KCNE1):c.*2475A>G SNV Uncertain Significance
895258 rs913676929 GRCh37: 21:35819068-35819068
GRCh38: 21:34446770-34446770
23 KCNE1 NM_000219.6(KCNE1):c.*1290G>A SNV Uncertain Significance
895411 rs890174554 GRCh37: 21:35820253-35820253
GRCh38: 21:34447955-34447955
24 KCNE1 NM_000219.6(KCNE1):c.*375C>T SNV Uncertain Significance
895472 rs1447216919 GRCh37: 21:35821168-35821168
GRCh38: 21:34448870-34448870
25 KCNE1 NM_000219.6(KCNE1):c.*2393C>T SNV Uncertain Significance
896696 rs567630448 GRCh37: 21:35819150-35819150
GRCh38: 21:34446852-34446852
26 KCNE1 NM_000219.6(KCNE1):c.*1857G>A SNV Uncertain Significance
896751 rs1980726981 GRCh37: 21:35819686-35819686
GRCh38: 21:34447388-34447388
27 KCNE1 NM_000219.6(KCNE1):c.*1078G>A SNV Uncertain Significance
896808 rs41312995 GRCh37: 21:35820465-35820465
GRCh38: 21:34448167-34448167
28 KCNE1 NM_000219.6(KCNE1):c.*366A>C SNV Uncertain Significance
896876 rs1980887753 GRCh37: 21:35821177-35821177
GRCh38: 21:34448879-34448879
29 KCNE1 NM_000219.6(KCNE1):c.*278A>T SNV Uncertain Significance
896877 rs1980898848 GRCh37: 21:35821265-35821265
GRCh38: 21:34448967-34448967
30 KCNE1 NM_000219.6(KCNE1):c.-334G>A SNV Uncertain Significance
897027 rs891779914 GRCh37: 21:35883571-35883571
GRCh38: 21:34511273-34511273
31 KCNE1 NM_000219.6(KCNE1):c.*2298C>G SNV Uncertain Significance
897146 rs896302148 GRCh37: 21:35819245-35819245
GRCh38: 21:34446947-34446947
32 KCNE1 NM_000219.6(KCNE1):c.*2206G>A SNV Uncertain Significance
897147 rs1454920552 GRCh37: 21:35819337-35819337
GRCh38: 21:34447039-34447039
33 KCNE1 NM_000219.6(KCNE1):c.*960C>T SNV Uncertain Significance
897296 rs544365018 GRCh37: 21:35820583-35820583
GRCh38: 21:34448285-34448285
34 KCNE1 NM_000219.6(KCNE1):c.-24A>G SNV Uncertain Significance
897437 rs1476804491 GRCh37: 21:35821956-35821956
GRCh38: 21:34449658-34449658
35 KCNE1 NM_000219.6(KCNE1):c.-521G>A SNV Uncertain Significance
897503 rs76286526 GRCh37: 21:35884469-35884469
GRCh38: 21:34512171-34512171
36 KCNE1 NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) SNV Uncertain Significance
854638 rs758961135 GRCh37: 21:35821754-35821754
GRCh38: 21:34449456-34449456
37 KCNE1 NM_000219.6(KCNE1):c.*1542G>A SNV Uncertain Significance
898399 rs1448578468 GRCh37: 21:35820001-35820001
GRCh38: 21:34447703-34447703
38 KCNE1 NM_000219.6(KCNE1):c.*1539C>A SNV Uncertain Significance
898400 rs41314801 GRCh37: 21:35820004-35820004
GRCh38: 21:34447706-34447706
39 KCNE1 NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) SNV Uncertain Significance
898534 rs1235182008 GRCh37: 21:35821586-35821586
GRCh38: 21:34449288-34449288
40 KCNE1 NM_000219.6(KCNE1):c.-170C>T SNV Uncertain Significance
898605 rs1003872251 GRCh37: 21:35883407-35883407
GRCh38: 21:34511109-34511109
41 KCNE1 NM_000219.6(KCNE1):c.*995G>C SNV Uncertain Significance
339755 rs886057023 GRCh37: 21:35820548-35820548
GRCh38: 21:34448250-34448250
42 KCNE1 NM_000219.6(KCNE1):c.-225G>C SNV Uncertain Significance
339778 rs886057026 GRCh37: 21:35883462-35883462
GRCh38: 21:34511164-34511164
43 KCNE1 NM_000219.6(KCNE1):c.*196C>G SNV Uncertain Significance
339767 rs76568182 GRCh37: 21:35821347-35821347
GRCh38: 21:34449049-34449049
44 KCNE1 NM_000219.6(KCNE1):c.*2413T>A SNV Uncertain Significance
339724 rs747442476 GRCh37: 21:35819130-35819130
GRCh38: 21:34446832-34446832
45 KCNE1 NM_000219.6(KCNE1):c.*1556G>A SNV Uncertain Significance
339745 rs886057019 GRCh37: 21:35819987-35819987
GRCh38: 21:34447689-34447689
46 KCNE1 NM_000219.6(KCNE1):c.-13C>T SNV Uncertain Significance
339773 rs745925445 GRCh37: 21:35821945-35821945
GRCh38: 21:34449647-34449647
47 KCNE1 NM_000219.6(KCNE1):c.*1832C>T SNV Uncertain Significance
339738 rs886057016 GRCh37: 21:35819711-35819711
GRCh38: 21:34447413-34447413
48 KCNE1 NM_000219.6(KCNE1):c.*493C>T SNV Uncertain Significance
339761 rs77190660 GRCh37: 21:35821050-35821050
GRCh38: 21:34448752-34448752
49 KCNE1 NM_000219.6(KCNE1):c.*1043T>C SNV Uncertain Significance
339754 rs886057022 GRCh37: 21:35820500-35820500
GRCh38: 21:34448202-34448202
50 KCNE1 NM_000219.6(KCNE1):c.*1192A>G SNV Uncertain Significance
339752 rs886057021 GRCh37: 21:35820351-35820351
GRCh38: 21:34448053-34448053

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

73
# 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

Expression for Long Qt Syndrome 5

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

Pathways for Long Qt Syndrome 5

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
2 12.12 AKAP9 CACNA1C KCNE1 KCNE2 KCNE3 KCNH2
3 11.94 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
4
Show member pathways
11.91 SCN5A SCN4B ANK2
5
Show member pathways
11.81 KCNQ1 KCNJ2 KCNH2
6 11.44 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
7 11.11 SCN5A SCN4B CACNA1C
8 11.04 SCN5A SCN4B ANK2
9 10.61 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.93 ANK2 CACNA1C CAV3 KCNE1 KCNE2 KCNE3
2 membrane GO:0016021 10.93 CACNA1C KCNE1 KCNE2 KCNE3 KCNE5 KCNH2
3 plasma membrane GO:0005886 10.62 ANK2 CACNA1C CAV3 KCNE1 KCNE2 KCNE3
4 plasma membrane GO:0005887 10.62 CACNA1C CAV3 KCNH2 KCNJ2
5 cell surface GO:0009986 10.21 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
6 membrane raft GO:0045121 10.1 KCNQ1 KCNE3 KCNE1 CAV3 ANK2
7 Z disc GO:0030018 10.02 ANK2 CACNA1C CAV3 KCNE1 SCN5A
8 postsynaptic membrane GO:0045211 9.95 SNTA1 KCNJ2 CACNA1C ANK2
9 sarcolemma GO:0042383 9.91 SNTA1 SCN5A CAV3 CACNA1C ANK2
10 lateral plasma membrane GO:0016328 9.89 SNTA1 SCN5A KCNQ1
11 voltage-gated sodium channel complex GO:0001518 9.85 SCN5A SCN4B
12 intercalated disc GO:0014704 9.85 SCN5A SCN4B KCNJ2 CAV3 ANK2
13 dystrophin-associated glycoprotein complex GO:0016010 9.84 SNTA1 CAV3
14 potassium channel complex GO:0034705 9.69 KCNQ1 AKAP9
15 basolateral part of cell GO:1990794 9.67 KCNQ1 KCNE3
16 T-tubule GO:0030315 9.61 ANK2 CACNA1C CAV3 KCNJ2 SCN5A
17 voltage-gated potassium channel complex GO:0008076 9.5 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.34 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
2 regulation of heart rate by cardiac conduction GO:0086091 10.34 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
3 cardiac muscle contraction GO:0060048 10.27 SCN5A SCN4B KCNQ1 KCNH2 KCNE5
4 cardiac muscle cell action potential involved in contraction GO:0086002 10.23 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10.23 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE5
6 potassium ion import across plasma membrane GO:1990573 10.22 KCNE2 KCNH2 KCNJ2 KCNQ1
7 positive regulation of potassium ion transmembrane transport GO:1901381 10.22 KCNE1 KCNE5 KCNH2 KCNJ2 KCNQ1
8 regulation of potassium ion transmembrane transport GO:1901379 10.21 KCNE1 KCNE2 KCNE5 KCNH2
9 regulation of heart rate GO:0002027 10.21 ANK2 CAV3 KCNQ1 SCN5A SNTA1
10 potassium ion export across plasma membrane GO:0097623 10.21 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNQ1
11 sodium ion transport GO:0006814 10.19 KCNE3 KCNQ1 SCN4B SCN5A
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.19 SCN5A SCN4B KCNJ2 CACNA1C
13 monoatomic ion transport GO:0006811 10.18 CACNA1C KCNE1 KCNE2 KCNE3 KCNE5 KCNH2
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.18 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
15 cellular response to xenobiotic stimulus GO:0071466 10.16 KCNQ1 KCNH2 KCNE2
16 negative regulation of delayed rectifier potassium channel activity GO:1902260 10.16 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
17 cellular response to cAMP GO:0071320 10.15 KCNQ1 KCNE1 AKAP9
18 atrial cardiac muscle cell action potential GO:0086014 10.15 SCN5A KCNQ1 KCNE5 ANK2
19 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.15 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
20 potassium ion transport GO:0006813 10.13 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2 KCNQ1
21 regulation of heart contraction GO:0008016 10.12 KCNQ1 KCNE5 CAV3
22 regulation of cardiac muscle cell contraction GO:0086004 10.11 SCN5A KCNJ2 ANK2
23 membrane repolarization GO:0086009 10.11 KCNQ1 KCNH2 KCNE2 KCNE1
24 negative regulation of potassium ion transmembrane transport GO:1901380 10.1 KCNH2 KCNE5 CAV3
25 regulation of membrane repolarization GO:0060306 10.1 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 AKAP9
26 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 10.09 SCN5A KCNQ1 KCNE5
27 negative regulation of potassium ion export across plasma membrane GO:1903765 10.09 KCNH2 KCNE5 KCNE3
28 regulation of monoatomic ion transmembrane transport GO:0034765 10.07 CACNA1C KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2
29 regulation of sodium ion transmembrane transporter activity GO:2000649 10.01 SCN4B CAV3
30 membrane depolarization during action potential GO:0086010 10.01 SCN5A KCNH2
31 positive regulation of sodium ion transport GO:0010765 10 SCN5A SCN4B
32 positive regulation of voltage-gated calcium channel activity GO:1901387 10 KCNE2 KCNE1
33 cellular chloride ion homeostasis GO:0030644 10 KCNQ1 KCNE3
34 regulation of sodium ion transmembrane transport GO:1902305 9.99 SCN5A SNTA1
35 T-tubule organization GO:0033292 9.99 CAV3 ANK2
36 monoatomic ion transmembrane transport GO:0034220 9.99 SCN5A KCNQ1 KCNH2 CACNA1C
37 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.98 CAV3 AKAP9
38 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.98 AKAP9 ANK2
39 regulation of delayed rectifier potassium channel activity GO:1902259 9.98 KCNE1 KCNE2
40 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.97 SCN5A CAV3
41 membrane depolarization during AV node cell action potential GO:0086045 9.97 SCN5A CACNA1C
42 SA node cell action potential GO:0086015 9.96 ANK2 SCN5A
43 membrane depolarization during SA node cell action potential GO:0086046 9.96 ANK2 SCN5A
44 AV node cell action potential GO:0086016 9.96 SCN5A SCN4B
45 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.95 SCN5A CACNA1C
46 regulation of calcium ion transmembrane transporter activity GO:1901019 9.94 CAV3 ANK2
47 negative regulation of voltage-gated potassium channel activity GO:1903817 9.93 KCNQ1 KCNE3 KCNE2 KCNE1
48 cardiac conduction GO:0061337 9.87 CACNA1C KCNQ1
49 membrane repolarization during action potential GO:0086011 9.8 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
50 ventricular cardiac muscle cell action potential GO:0086005 9.62 SNTA1 SCN5A KCNQ1 KCNH2 KCNE5 KCNE3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.14 SNTA1 SCN5A KCNQ1 CACNA1C
2 potassium channel regulator activity GO:0015459 10.1 KCNE5 KCNE3 KCNE2 KCNE1 AKAP9
3 delayed rectifier potassium channel activity GO:0005251 10.1 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNQ1
4 voltage-gated potassium channel activity GO:0005249 10.07 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 10.02 SCN5A KCNQ1 KCNH2
6 transmembrane transporter binding GO:0044325 10 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNE3
7 sodium channel regulator activity GO:0017080 9.99 SNTA1 SCN4B CAV3
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.96 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
9 inward rectifier potassium channel activity GO:0005242 9.95 KCNJ2 KCNH2 KCNE2
10 nitric-oxide synthase binding GO:0050998 9.93 CAV3 SCN5A SNTA1
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.93 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNQ1
12 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.83 SCN5A SCN4B
13 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
14 monoatomic ion channel activity GO:0005216 9.8 SCN5A KCNQ1 KCNH2 CACNA1C
15 voltage-gated monoatomic ion channel activity GO:0005244 9.36 CACNA1C KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2

Sources for Long Qt Syndrome 5

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