MCID: LNG044
MIFTS: 61

Long Qt Syndrome 1

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 53 12 49 71 28 14
Romano-Ward Syndrome 53 49 24 55 71 28 51 69
Ward-Romano Syndrome 53 49 24 71
Lqt1 53 12 49 71
Ventricular Fibrillation with Prolonged Qt Interval 53 12 49
Rws 53 24 71
Wrs 53 24
Long Qt Syndrome 1, Acquired, Susceptibility to 53
Long Qt Syndrome 1, Acquired 53
Romano-Ward Long Qt Syndrome 55
Ward-Romano Syndrome; Wrs 53
Romano-Ward Syndrome; Rws 53
Long Qt Syndrome Type 1 72
Long Qt Syndrome-1 13

Characteristics:

Orphanet epidemiological data:

55
romano-ward syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity
patients with a 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:

31
long qt syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 53 192500
Disease Ontology 12 DOID:0110644
ICD10 32 I45.8
Orphanet 55 ORPHA101016
MESH via Orphanet 42 D029597
UMLS via Orphanet 70 C0035828
ICD10 via Orphanet 33 I45.8
MeSH 41 D029597

Summaries for Long Qt Syndrome 1

Genetics Home Reference : 24 Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.

MalaCards based summary : Long Qt Syndrome 1, also known as romano-ward syndrome, is related to long qt syndrome 13 and long qt syndrome 9, and has symptoms including syncope, sudden cardiac death and prolonged qt interval. An important gene associated with Long Qt Syndrome 1 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Transmission across Chemical Synapses. The drugs Propranolol and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotype is muscle.

OMIM : 53 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). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). (192500)

UniProtKB/Swiss-Prot : 71 Long QT syndrome 1: 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.

NIH Rare Diseases : 49 Romano-Ward syndrome is the most common form of inheritedlong QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion. Last updated: 4/15/2011

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

Wikipedia : 72 Long QT syndrome (LQTS) is a condition which affects repolarization of the heart after a heartbeat. This... more...

Related Diseases for Long Qt Syndrome 1

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
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 13 32.2 KCNH2 KCNJ5 KCNQ1 SCN5A
2 long qt syndrome 9 32.1 CAV3 KCNJ2 SCN5A SNTA1
3 long qt syndrome 3 32.0 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 12 32.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
5 long qt syndrome 6 31.9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
6 long qt syndrome 2 31.9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
7 long qt syndrome 5 31.6 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
8 jervell and lange-nielsen syndrome 1 30.3 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
9 long qt syndrome 29.5 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
10 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.7
11 blood group--wright antigen 11.5
12 ragweed sensitivity 11.1
13 torsade de pointes, short-coupled variant 10.8
14 cardiac conduction disease with or without dilated cardiomyopathy 10.7 KCNH2 KCNQ1 SCN5A
15 familial short qt syndrome 10.6 KCNH2 KCNJ2 KCNQ1
16 acute dacryocystitis 10.6 CALM1 CALM2 CALM3
17 timothy syndrome 10.6 KCNE1 KCNH2 KCNQ1
18 long qt syndrome 15 10.6 CALM1 CALM2 CALM3
19 external ear disease 10.6 CALM1 CALM2 CALM3
20 otitis externa 10.6 CALM1 CALM2 CALM3
21 deafness, autosomal recessive 44 10.6 CALM1 CALM2 CALM3
22 otomycosis 10.6 CALM1 CALM2 CALM3
23 spontaneous ocular nystagmus 10.6 CALM1 CALM2 CALM3
24 sporotrichosis 10.6 CALM1 CALM2 CALM3
25 dystonia 24 10.6 CALM1 CALM2 CALM3
26 deafness, autosomal dominant 2a 10.6 CALM1 CALM2 CALM3 KCNQ1
27 atrioventricular block 10.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 cardiac arrhythmia 10.6 ANK2 KCNE2 KCNH2 KCNQ1 SCN5A
29 triosephosphate isomerase deficiency 10.6 CALM1 CALM2 CALM3
30 cardiomyopathy, dilated, 1p 10.5 AKAP9 CALM1 CALM2 CALM3
31 leber congenital amaurosis 2 10.5 CALM1 CALM2 CALM3
32 long qt syndrome 14 10.5 ANK2 CALM1
33 primary systemic mycosis 10.5 CALM1 CALM2 CALM3
34 heart conduction disease 10.5 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
35 cardiomyopathy, dilated, 1a 10.5 CALM1 CALM2 CALM3
36 clear cell acanthoma 10.5 CALM1 CALM2 CALM3
37 periodic paralyses 10.5 KCNE3 KCNJ2
38 third-degree atrioventricular block 10.5 KCNE2 SCN5A
39 andersen cardiodysrhythmic periodic paralysis 10.5 KCNE2 KCNJ2 KCNJ5 KCNQ1 SCN5A
40 cardiac arrest 10.5 CALM1 CALM3 KCNQ1 SCN5A TRDN
41 primary cutaneous amyloidosis 10.5 CALM1 CALM2 CALM3
42 ventricular fibrillation, paroxysmal familial, 1 10.5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 SCN5A
43 familial long qt syndrome 10.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
44 short qt syndrome 10.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
45 intrinsic cardiomyopathy 10.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
46 cardiac conduction defect 10.5 KCNH2 SCN5A
47 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.4 ANK2 KCNH2 KCNJ2 KCNQ1 SCN5A TRDN
48 sudden infant death syndrome 10.4 CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
49 syncope 10.4 CALM1 CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A
50 atrial fibrillation 10.3 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

Graphical network of the top 20 diseases related to Long Qt Syndrome 1:



Diseases related to Long Qt Syndrome 1

Symptoms & Phenotypes for Long Qt Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
normal hearing

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


Clinical features from OMIM:

192500

Human phenotypes related to Long Qt Syndrome 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 sudden cardiac death 31 HP:0001645
3 prolonged qt interval 31 HP:0001657
4 abnormality of the ear 31 HP:0000598
5 ventricular fibrillation 31 HP:0001663
6 torsade de pointes 31 HP:0001664

UMLS symptoms related to Long Qt Syndrome 1:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAV3 KCNH2 KCNJ2 KCNQ1 SCN5A SNTA1

Drugs & Therapeutics for Long Qt Syndrome 1

Drugs for Long Qt Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational 525-66-6 4946
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3 Racepinephrine Approved 329-65-7
4
Spironolactone Approved 1952-01-7, 52-01-7 5833
5 Adrenergic Agents
6 Adrenergic Antagonists
7 Adrenergic beta-Antagonists
8 Anti-Arrhythmia Agents
9 Antihypertensive Agents
10 Neurotransmitter Agents
11 Vasodilator Agents
12 Adrenergic Agonists
13 Adrenergic alpha-Agonists
14 Adrenergic beta-Agonists
15 Anti-Asthmatic Agents
16 Autonomic Agents
17 Bronchodilator Agents
18 Epinephryl borate
19 Mydriatics
20 Peripheral Nervous System Agents
21 Respiratory System Agents
22 Vasoconstrictor Agents
23 diuretics
24 Diuretics, Potassium Sparing
25 Hormone Antagonists
26 Hormones
27 Hormones, Hormone Substitutes, and Hormone Antagonists
28 Mineralocorticoid Receptor Antagonists
29 Mineralocorticoids
30 Natriuretic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
2 Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients Recruiting NCT01745666
3 Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome Active, not recruiting NCT01705925
4 Exploring Mechanisms and Morphology of QT Interval Prolongation Enrolling by invitation NCT03291145 Beta Blockers;Spironolactone

Search NIH Clinical Center for Long Qt Syndrome 1

Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 1 28 KCNQ1
2 Romano-Ward Syndrome 28

Anatomical Context for Long Qt Syndrome 1

MalaCards organs/tissues related to Long Qt Syndrome 1:

38
Heart, Testes

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

(show all 14)
# Title Authors Year
1
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. ( 28595573 )
2017
2
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. ( 27041150 )
2016
3
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. ( 27816319 )
2016
4
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
5
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1. ( 23000022 )
2012
6
Bupivacaine destabilizes action potential duration in cellular and computational models of long QT syndrome 1. ( 22003215 )
2011
7
Nicorandil normalizes prolonged repolarisation in the first transgenic rabbit model with Long-QT syndrome 1 both in vitro and in vivo. ( 20959120 )
2011
8
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1. ( 19540844 )
2010
9
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. ( 16981927 )
2006
10
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. ( 15498462 )
2004
11
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. ( 15511625 )
2004
12
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. ( 10482963 )
1999
13
A dominant negative isoform of the long QT syndrome 1 gene product. ( 9506986 )
1998
14
Romano-Ward Syndrome ( 20301308 )
1993

Variations for Long Qt Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 1:

71 (show top 50) (show all 123)
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Gly168Arg VAR_001516 rs179489
2 KCNQ1 p.Arg174Cys VAR_001517 rs199472696
3 KCNQ1 p.Ala178Pro VAR_001518 rs120074177
4 KCNQ1 p.Gly189Arg VAR_001519 rs104894252
5 KCNQ1 p.Arg190Gln VAR_001520 rs120074178
6 KCNQ1 p.Gly216Arg VAR_001521
7 KCNQ1 p.Val254Met VAR_001522 rs120074179
8 KCNQ1 p.Glu261Lys VAR_001523 rs199472722
9 KCNQ1 p.Gly269Asp VAR_001524 rs120074194
10 KCNQ1 p.Leu273Phe VAR_001525 rs120074180
11 KCNQ1 p.Ala300Thr VAR_001526 rs120074187
12 KCNQ1 p.Thr309Arg VAR_001529 rs199472743
13 KCNQ1 p.Thr312Ile VAR_001530 rs120074182
14 KCNQ1 p.Ile313Met VAR_001531 rs199472747
15 KCNQ1 p.Gly314Ser VAR_001532 rs120074184
16 KCNQ1 p.Tyr315Ser VAR_001533 rs74462309
17 KCNQ1 p.Asp317Asn VAR_001534 rs199472751
18 KCNQ1 p.Pro320Ala VAR_001535 rs199472753
19 KCNQ1 p.Gly325Arg VAR_001536 rs199472756
20 KCNQ1 p.Ala341Glu VAR_001538 rs12720459
21 KCNQ1 p.Ala341Val VAR_001539 rs12720459
22 KCNQ1 p.Leu342Phe VAR_001540 rs199472760
23 KCNQ1 p.Ala344Val VAR_001541 rs199472763
24 KCNQ1 p.Gly345Glu VAR_001542 rs120074183
25 KCNQ1 p.Arg366Pro VAR_001543 rs199473410
26 KCNQ1 p.Ala371Thr VAR_001544 rs199473412
27 KCNQ1 p.Arg555Cys VAR_001545 rs120074185
28 KCNQ1 p.Phe157Cys VAR_008124 rs199472690
29 KCNQ1 p.Tyr184Ser VAR_008125 rs199473397
30 KCNQ1 p.Gly345Arg VAR_008126 rs199473471
31 KCNQ1 p.Ser373Pro VAR_008127 rs199472766
32 KCNQ1 p.Trp392Arg VAR_008128 rs199472774
33 KCNQ1 p.Arg174His VAR_008939 rs199472697
34 KCNQ1 p.Asp242Asn VAR_008940 rs199472712
35 KCNQ1 p.Trp248Arg VAR_008942 rs199473459
36 KCNQ1 p.Leu250His VAR_008943 rs199472715
37 KCNQ1 p.Tyr281Cys VAR_008945 rs199472732
38 KCNQ1 p.Tyr315Cys VAR_008946 rs74462309
39 KCNQ1 p.Lys318Asn VAR_008947 rs199472752
40 KCNQ1 p.Arg366Trp VAR_008948 rs199473411
41 KCNQ1 p.Arg533Trp VAR_008949 rs199472793
42 KCNQ1 p.Arg539Trp VAR_008950 rs199472795
43 KCNQ1 p.Thr587Met VAR_008951 rs120074189
44 KCNQ1 p.Gly589Asp VAR_008952 rs120074190
45 KCNQ1 p.Arg591His VAR_008953 rs199472814
46 KCNQ1 p.Leu353Pro VAR_009180 rs199473403
47 KCNQ1 p.Ala525Thr VAR_009181 rs120074188
48 KCNQ1 p.Glu160Lys VAR_009919 rs199473453
49 KCNQ1 p.Ala178Thr VAR_009920 rs120074177
50 KCNQ1 p.Ala194Pro VAR_009922 rs199472699

ClinVar genetic disease variations for Long Qt Syndrome 1:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
2 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
3 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
4 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
5 KCNQ1 NM_000218.2(KCNQ1): c.1016T> C (p.Phe339Ser) single nucleotide variant Pathogenic rs199472759 GRCh37 Chromosome 11, 2604759: 2604759
6 KCNQ1 NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp) single nucleotide variant Pathogenic rs199473411 GRCh37 Chromosome 11, 2606505: 2606505
7 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
8 KCNQ1 NM_000218.2(KCNQ1): c.1637C> T (p.Ser546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199473480 GRCh37 Chromosome 11, 2797236: 2797236
9 KCNQ1 NM_000218.2(KCNQ1): c.1697C> T (p.Ser566Phe) single nucleotide variant Likely pathogenic rs199472804 GRCh37 Chromosome 11, 2798227: 2798227
10 KCNQ1 NM_000218.2(KCNQ1): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic rs199472806 GRCh37 Chromosome 11, 2798233: 2798233
11 KCNQ1 NM_000218.2(KCNQ1): c.1893dupC (p.Arg632Glnfs) duplication Pathogenic rs397508105 GRCh37 Chromosome 11, 2869095: 2869095
12 KCNQ1 NM_000218.2(KCNQ1): c.502G> A (p.Gly168Arg) single nucleotide variant Pathogenic rs179489 GRCh37 Chromosome 11, 2591882: 2591882
13 KCNQ1 NM_000218.2(KCNQ1): c.533delCinsGG (p.Ala178Glyfs) indel Pathogenic rs397508115 GRCh37 Chromosome 11, 2591913: 2591913
14 KCNQ1 NM_000218.2(KCNQ1): c.691C> T (p.Arg231Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473457 GRCh37 Chromosome 11, 2593250: 2593250
15 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
16 KCNQ1 NM_000218.2(KCNQ1): c.824_826delTCT (p.Phe275del) deletion Pathogenic rs397508126 GRCh37 Chromosome 11, 2594119: 2594121
17 KCNQ1 NM_000218.2(KCNQ1): c.828_830delCTC (p.Ser277del) deletion Pathogenic rs397508127 GRCh37 Chromosome 11, 2594123: 2594125
18 CALM2 NM_001743.5(CALM2): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
19 CALM2 NM_001743.5(CALM2): c.293A> T (p.Asn98Ile) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
20 CALM2 NM_001743.5(CALM2): c.396T> G (p.Asp132Glu) single nucleotide variant Pathogenic/Likely pathogenic rs398124648 GRCh37 Chromosome 2, 47388887: 47388887
21 CALM2 NM_001743.5(CALM2): c.400G> C (p.Asp134His) single nucleotide variant Pathogenic/Likely pathogenic rs398124650 GRCh37 Chromosome 2, 47388883: 47388883
22 CALM2 NM_001743.5(CALM2): c.407A> C (p.Gln136Pro) single nucleotide variant Pathogenic/Likely pathogenic rs398124649 GRCh37 Chromosome 2, 47388876: 47388876
23 KCNQ1 NM_000218.2(KCNQ1): c.364dupT (p.Cys122Leufs) duplication Pathogenic rs794728583 GRCh38 Chromosome 11, 2445462: 2445462
24 KCNQ1 NM_000218.2(KCNQ1): c.1762A> T (p.Ile588Phe) single nucleotide variant Pathogenic/Likely pathogenic rs794728536 GRCh37 Chromosome 11, 2799235: 2799235
25 KCNQ1 KCNQ1, 3-BP DEL deletion Pathogenic
26 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh37 Chromosome 11, 2591912: 2591912
27 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894252 GRCh37 Chromosome 11, 2591945: 2591945
28 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh37 Chromosome 11, 2594211: 2594211
29 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh37 Chromosome 11, 2604678: 2604678
30 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
31 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
32 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh37 Chromosome 11, 2594112: 2594112
33 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
34 KCNQ1 NM_000218.2(KCNQ1): c.1022C> T (p.Ala341Val) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
35 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh37 Chromosome 11, 2606443: 2606443
36 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh37 Chromosome 11, 2604683: 2604683
37 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
38 KCNQ1 KCNQ1, 3-BP DEL, PHE339DEL deletion Pathogenic
39 KCNQ1 NM_000218.2(KCNQ1): c.211_219delGCCGCGCCC (p.Ala71_Pro73del) deletion Pathogenic rs587776555 GRCh38 Chromosome 11, 2445309: 2445317
40 KCNQ1 NM_000218.2(KCNQ1): c.922-1G> C single nucleotide variant Pathogenic rs387906290 GRCh37 Chromosome 11, 2604664: 2604664
41 KCNQ1 NM_000218.2(KCNQ1): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs1800171 GRCh37 Chromosome 11, 2604775: 2604775
42 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
43 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh37 Chromosome 11, 2466678: 2466678
44 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic,risk factor rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
45 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
46 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
47 KCNQ1 NM_000218.2(KCNQ1): c.443delA (p.Tyr148Leufs) deletion Pathogenic rs878854347 GRCh38 Chromosome 11, 2527984: 2527984
48 KCNQ1 NM_000218.2(KCNQ1): c.557G> A (p.Gly186Asp) single nucleotide variant Pathogenic rs794728568 GRCh38 Chromosome 11, 2570707: 2570707
49 KCNQ1 NM_000218.2(KCNQ1): c.758C> G (p.Ser253Cys) single nucleotide variant Pathogenic rs794728513 GRCh38 Chromosome 11, 2572087: 2572087
50 KCNQ1 NM_000218.2(KCNQ1): c.1051T> C (p.Phe351Leu) single nucleotide variant Pathogenic rs779383393 GRCh38 Chromosome 11, 2585230: 2585230

Expression for Long Qt Syndrome 1

Search GEO for disease gene expression data for Long Qt Syndrome 1.

Pathways for Long Qt Syndrome 1

Pathways related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 CALM1 CALM2 CALM3 KCNJ5 SCN4B SCN5A
2
Show member pathways
12.93 AKAP9 CALM1 CALM2 CALM3 KCNH2 KCNJ2
3
Show member pathways
12.83 AKAP9 CALM1 CALM2 CALM3 CAV3 KCNE1
4
Show member pathways
12.71 CALM1 CALM2 CALM3 KCNJ2 KCNJ5 KCNQ1
5
Show member pathways
12.7 CALM1 CALM2 CALM3 KCNJ2 KCNJ5
6
Show member pathways
12.64 CALM1 CALM2 CALM3 KCNE1 KCNJ5 KCNQ1
7
Show member pathways
12.46 CALM1 CALM2 CALM3 SNTA1
8 12.25 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
9
Show member pathways
12.2 AKAP9 CALM1 CALM2 CALM3
10
Show member pathways
12.1 KCNH2 KCNJ2 KCNJ5 KCNQ1
11
Show member pathways
12.1 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
12 12.08 CAV3 KCNH2 KCNQ1 NOS1AP SCN4B SCN5A
13 12.07 CALM1 CALM2 CALM3 CAV3
14
Show member pathways
11.9 CALM1 CALM2 CALM3
15 11.88 CALM1 CALM2 CALM3
16 11.87 CALM1 CALM2 CALM3
17
Show member pathways
11.85 CALM1 CALM2 CALM3
18
Show member pathways
11.82 CALM1 CALM2 CALM3
19
Show member pathways
11.82 CALM1 CALM2 CALM3
20
Show member pathways
11.82 CALM1 CALM2 CALM3
21
Show member pathways
11.75 CALM1 CALM2 CALM3
22
Show member pathways
11.74 CALM1 CALM2 CALM3
23
Show member pathways
11.73 CALM1 CALM2 CALM3
24 11.73 CALM1 CALM2 CALM3
25 11.71 CALM1 CALM2 CALM3
26
Show member pathways
11.66 CALM1 CALM2 CALM3
27 11.64 CALM1 CALM2 CALM3 KCNJ2
28 11.62 CALM1 CALM2 CALM3
29
Show member pathways
11.61 CALM1 CALM2 CALM3
30 11.52 CALM1 CALM2 CALM3
31 11.4 ANK2 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2
32 11.35 CALM1 CALM2 CALM3
33 11.33 CALM1 CALM2 CALM3
34 11.31 CALM1 CALM2 CALM3 CAV3
35 11.3 CALM1 CALM2 CALM3
36 11.27 CALM1 CALM2 CALM3
37 11.24 ANK2 SCN4B SCN5A
38 11.22 CALM1 CALM2 CALM3
39 11.21 CALM1 CALM2 CALM3
40 11.2 CALM1 CALM2 CALM3 NOS1AP
41
Show member pathways
11.2 AKAP9 CALM1 CALM2 CALM3 KCNE1 KCNE2
42 11.09 CALM1 CALM2 CALM3
43 11.01 CALM1 CALM2 CALM3
44 11 CALM1 CALM2 CALM3
45 10.99 KCNE1 KCNJ2 KCNQ1
46 10.8 CALM1 CALM2 CALM3

GO Terms for Long Qt Syndrome 1

Cellular components related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 CAV3 KCNE1 KCNE2 KCNH2 SCN5A
2 membrane raft GO:0045121 9.88 ANK2 CAV3 KCNE1 KCNE3 KCNQ1
3 vesicle GO:0031982 9.83 CALM1 CALM2 CALM3 CAV3 KCNE3
4 Z disc GO:0030018 9.77 ANK2 CAV3 KCNE1 NOS1AP SCN5A
5 caveola GO:0005901 9.72 CAV3 NOS1AP SCN5A
6 sarcolemma GO:0042383 9.72 ANK2 CAV3 NOS1AP SCN5A SNTA1
7 sarcomere GO:0030017 9.71 CALM1 CALM2 CALM3
8 spindle microtubule GO:0005876 9.69 CALM1 CALM2 CALM3
9 calcium channel complex GO:0034704 9.63 CALM1 CALM2 CALM3
10 catalytic complex GO:1902494 9.58 CALM1 CALM2 CALM3
11 voltage-gated sodium channel complex GO:0001518 9.56 SCN4B SCN5A
12 intercalated disc GO:0014704 9.55 ANK2 CAV3 KCNJ2 SCN4B SCN5A
13 inward rectifier potassium channel complex GO:1902937 9.49 KCNH2 NOS1AP
14 T-tubule GO:0030315 9.43 ANK2 CAV3 KCNJ2 KCNJ5 NOS1AP SCN5A
15 voltage-gated potassium channel complex GO:0008076 9.23 AKAP9 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ2
16 plasma membrane GO:0005886 10.19 ANK2 CALM1 CALM2 CALM3 CAV3 KCNE1
17 protein complex GO:0043234 10 CALM1 CALM2 CALM3 CAV3 SNTA1 WARS

Biological processes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.99 CALM1 CAV3 SNTA1 TRDN
2 cardiac muscle contraction GO:0060048 9.93 KCNH2 KCNQ1 SCN4B SCN5A
3 cellular response to drug GO:0035690 9.91 KCNE2 KCNH2 KCNQ1
4 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.91 CALM1 CALM2 CALM3 TRDN
5 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.91 ANK2 CALM1 CALM2 CALM3
6 regulation of cardiac muscle contraction GO:0055117 9.91 ANK2 CALM1 CALM2 CALM3 CAV3
7 cardiac conduction GO:0061337 9.91 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 response to calcium ion GO:0051592 9.9 CALM1 CALM2 CALM3
9 regulation of heart rate by cardiac conduction GO:0086091 9.9 AKAP9 ANK2 KCNE1 KCNE2 KCNE3 KCNH2
10 cellular response to cAMP GO:0071320 9.89 AKAP9 KCNE1 KCNQ1
11 positive regulation of cAMP biosynthetic process GO:0030819 9.89 CALM1 CALM2 CALM3
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.89 KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM1 CALM2 CALM3
14 substantia nigra development GO:0021762 9.88 CALM1 CALM2 CALM3
15 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.88 CALM1 CALM2 CALM3 TRDN
16 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNE1 KCNH2 KCNJ2 KCNQ1 NOS1AP
17 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM1 CALM2 CALM3
18 membrane repolarization GO:0086009 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
19 regulation of cytokinesis GO:0032465 9.86 CALM1 CALM2 CALM3
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.86 KCNE1 KCNH2 KCNJ2 KCNQ1
21 potassium ion import GO:0010107 9.85 KCNE2 KCNJ2 KCNJ5
22 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM1 CALM2 CALM3
23 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
24 potassium ion export GO:0071435 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
25 regulation of membrane repolarization GO:0060306 9.85 AKAP9 KCNE2 KCNH2 KCNJ2 KCNQ1
26 regulation of potassium ion transmembrane transport GO:1901379 9.84 KCNE1 KCNE2 KCNH2
27 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.84 CALM1 CALM2 CALM3
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.84 CALM1 CALM2 CALM3 TRDN
29 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM1 CALM2 CALM3
30 detection of calcium ion GO:0005513 9.83 CALM1 CALM2 CALM3
31 regulation of cardiac muscle cell contraction GO:0086004 9.83 ANK2 KCNJ2 SCN5A
32 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
33 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.82 KCNJ2 SCN4B SCN5A
34 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.82 KCNE1 KCNE2 KCNE3
35 atrial cardiac muscle cell action potential GO:0086014 9.81 ANK2 KCNQ1 SCN5A
36 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM1 CALM2 CALM3
37 regulation of heart rate GO:0002027 9.8 ANK2 CALM1 CALM2 CALM3 CAV3 SCN5A
38 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.79 CALM1 CALM2 CALM3
39 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.77 CALM1 CALM2 CALM3
40 positive regulation of sodium ion transport GO:0010765 9.74 SCN4B SCN5A
41 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 ANK2 TRDN
42 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.73 CAV3 SCN5A
43 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 CAV3 KCNH2
44 regulation of sodium ion transmembrane transport GO:1902305 9.73 SCN5A SNTA1
45 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.73 AKAP9 CAV3
46 regulation of delayed rectifier potassium channel activity GO:1902259 9.72 KCNE1 KCNE2
47 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.72 AKAP9 ANK2
48 SA node cell action potential GO:0086015 9.72 ANK2 SCN5A
49 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.72 KCNQ1 SCN5A
50 membrane repolarization during action potential GO:0086011 9.72 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

Molecular functions related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.97 CALM1 CALM2 CALM3 SCN5A WARS
2 potassium channel activity GO:0005267 9.88 KCNE1 KCNE2 KCNE3 KCNH2 KCNQ1
3 voltage-gated potassium channel activity GO:0005249 9.85 KCNE1 KCNE2 KCNE3 KCNH2 KCNQ1
4 potassium channel regulator activity GO:0015459 9.81 AKAP9 KCNE1 KCNE2 KCNE3
5 scaffold protein binding GO:0097110 9.79 KCNH2 KCNQ1 SCN5A
6 disordered domain specific binding GO:0097718 9.77 CALM1 CALM2 CALM3
7 sodium channel regulator activity GO:0017080 9.76 CAV3 SCN4B SNTA1
8 protein serine/threonine kinase activator activity GO:0043539 9.74 CALM1 CALM2 CALM3
9 delayed rectifier potassium channel activity GO:0005251 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
10 titin binding GO:0031432 9.71 CALM1 CALM2 CALM3
11 inward rectifier potassium channel activity GO:0005242 9.71 KCNE2 KCNH2 KCNJ2 KCNJ5
12 adenylate cyclase binding GO:0008179 9.7 CALM1 CALM2 CALM3
13 voltage-gated ion channel activity GO:0005244 9.7 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN4B
14 protein phosphatase activator activity GO:0072542 9.67 CALM1 CALM2 CALM3
15 calcium channel inhibitor activity GO:0019855 9.63 CALM1 CALM2
16 G-protein activated inward rectifier potassium channel activity GO:0015467 9.62 KCNJ2 KCNJ5
17 nitric-oxide synthase binding GO:0050998 9.62 CAV3 NOS1AP SCN5A SNTA1
18 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.61 SCN4B SCN5A
19 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.6 KCNJ5 KCNQ1
20 tryptophan-tRNA ligase activity GO:0004830 9.56 WARS WARS2
21 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.56 KCNE1 KCNH2 KCNJ2 KCNQ1
22 N-terminal myristoylation domain binding GO:0031997 9.54 CALM1 CALM2 CALM3
23 ion channel binding GO:0044325 9.44 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
24 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.35 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
25 protein binding GO:0005515 10.55 AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
26 protein kinase binding GO:0019901 10.02 ANK2 CALM1 CALM2 CALM3 SCN5A WARS

Sources for Long Qt Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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