LQT
MCID: LNG028
MIFTS: 64

Long Qt Syndrome (LQT) malady

Genetic diseases, Rare diseases categories
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Summaries for Long Qt Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Long qt syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. long qt syndrome can be detected by electrocardiogram (ekg). it can be caused by a variety of different gene mutations (changes). it can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions. last updated: 10/4/2013

MalaCards: Long Qt Syndrome, also known as romano-ward syndrome, is related to long qt syndrome 1 and atrioventricular block. An important gene associated with Long Qt Syndrome is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Potassium transporters inward current and Salivary secretion. The compounds flecainide and propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:8 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (tdp, a form of irregular heartbeat that originates from the ventricles).

Wikipedia:65 Long QT syndrome (LQTS) is a rare inherited heart condition in which delayed repolarization of the heart... more...

Description from OMIM:47 613688, 612955, 613485, 611820, 611819 613695, 170390, 601005, 603830, 192500, 613693, 611818 more

GeneReviews summary for rws

Aliases & Classifications for Long Qt Syndrome

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 58SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

long qt syndrome 8 43 10 45 62
romano-ward syndrome 8 19 62
long q-t syndrome 8 20 22
long qt syndrome, autosomal dominant 19
romano-ward long qt syndrome 19
lqt 8


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Disease Ontology8 DOID:2843
MeSH35 D008133
ICD9CM27 426.82
NCIt40 C34786

Related Diseases for Long Qt Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Long Qt Syndrome 1 family:

long qt syndrome Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 2
Long Qt Syndrome 3 Long Qt Syndrome 4
Long Qt Syndrome 5 Long Qt Syndrome 6
Long Qt Syndrome 8 Long Qt Syndrome 9
Long Qt Syndrome 12 Long Qt Syndrome 13
Long Qt Syndrome 2, Acquired Long Qt Syndrome 1, Acquired

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome 131.2KCNQ1
2atrioventricular block31.0KCNH2, SCN5A
3sudden infant death syndrome30.9KCNH2, KCNQ1, SCN5A
4brugada syndrome30.8SCN5A, SCN4B, KCNE2, KCNE1, KCNH2, ANK2
5jervell-lange nielsen syndrome30.8KCNE1, KCNQ1
6timothy syndrome30.7KCNE1, SCN4B
7familial atrial fibrillation30.4SCN5A, KCNQ1, KCNE2
8sudden cardiac death multi-gene panels30.3KCNH2, KCNE1, KCNQ1, SCN5A, ANK2
9congenital heart disease30.0KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
10long qt syndrome 310.7
11long qt syndrome 210.6
12long qt syndrome 510.6
13long qt syndrome 910.6
14long qt syndrome 610.6
15long qt syndrome 1310.6
16syncope10.6
17catecholaminergic polymorphic ventricular tachycardia10.5
18long qt syndrome 1110.5
19long qt syndrome 410.5
20long qt syndrome 810.5
21long qt syndrome 1210.5
22syndactyly10.5
23andersen-tawil syndrome10.5
24long qt syndrome 1010.5
25scn5a-related romano ward syndrome10.5
26hypertrophic cardiomyopathy10.4
27short qt syndrome10.4
28fainting10.4
29hypokalemia10.3
30dilated cardiomyopathy10.3
31left ventricular noncompaction10.3
32epiphyseal dysplasia multiple with early-onset diabetes mellitus10.3
33kearns-sayre syndrome10.2
34tetralogy of fallot10.2
35williams syndrome10.2
36stress cardiomyopathy10.2
37seizure disorder10.2
38long qt syndrome 2, acquired10.2
39long qt syndrome 1, acquired10.2
40long qt syndrome, acquired, reduced10.2
41supravalvular aortic stenosis10.1
42panhypopituitarism10.1
43pain disorder10.1
44conduct disorder10.1
45hemochromatosis10.1
46beckwith-wiedemann syndrome10.1
47peripartum cardiomyopathy10.1
48hypoglycemia10.1
49hypercalcemia10.1
50addison's disease10.1

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



Diseases related to long qt syndrome

Symptoms for Long Qt Syndrome

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47OMIM
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Clinical features from OMIM:

613688, 612955, 613485, 611820, 611819, 613695, 170390, 601005, 603830, 192500 613693, 611818 more

Drugs & Therapeutics for Long Qt Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Long Qt Syndrome

Search NIH Clinical Center for Long Qt Syndrome

Genetic Tests for Long Qt Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Long Qt Syndrome:

id Genetic test Affiliating Genes
1 Long Qt Syndrome Multi-Gene Panels20
2 Long Qt Syndrome22

Anatomical Context for Long Qt Syndrome

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33MalaCards
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MalaCards organs/tissues related to Long Qt Syndrome:

33
Heart, Testes, Brain, Eye

Animal Models for Long Qt Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Long Qt Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3KCNH2, KCNE1, KCNQ1, SCN5A, ANK2
2MP:00053698.2KCNH2, KCNQ1, SCN5A, SNTA1
3MP:00036317.8SNTA1, ANK2, SCN5A, KCNQ1, KCNE1
4MP:00053867.7KCNE1, KCNQ1, SCN5A, ANK2, SNTA1
5MP:00053767.3SNTA1, ANK2, KCNQ1, KCNE2, KCNE1, KCNH2

Publications for Long Qt Syndrome

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52PubMed
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Articles related to Long Qt Syndrome:

(show top 50)    (show all 820)
idTitleAuthorsYear
1
Clinical Profile of Pediatric Patients with Long QT Syndrome Masquerading as Seizures. (24408398)
2014
2
Risk factors for symptoms in long QT syndrome patients in a single pediatric center. (23566084)
2013
3
Duloxetine-induced life-threatening long QT syndrome. (23440523)
2013
4
QRS fragmentation in acquired long QT syndrome does not always predict torsades of pointes tachycardia: a case report. (23949550)
2013
5
Congenital long QT syndrome with compound mutations in the KCNH2 gene. (24057343)
2013
6
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. (23347029)
2013
7
Stress proneness in molecularly defined long QT syndrome: a study using temperament assessment by behavioural inhibition system scale. (22936642)
2013
8
Clinical utility gene card for: long-QT syndrome (types 1-13). (23511927)
2013
9
A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome. (23010577)
2013
10
Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. (23892339)
2013
11
Silent mutation in long QT syndrome: pathogenicity prediction by computer simulation. (22001705)
2012
12
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. (22199116)
2012
13
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to I^-blocker therapy in type 1 long-QT syndrome. (22456477)
2012
14
Do infants die of sudden infant death syndrome (SIDS) with long QT syndrome (LQTS) or from LQTS? (22868671)
2012
15
Long QT syndrome mutation detection by SNaPshot technique. (21769575)
2012
16
A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward). (21907427)
2012
17
Dexmedetomidine and clonidine inhibit ventricular tachyarrhythmias in a rabbit model of acquired long QT syndrome. (22786471)
2012
18
Sex hormones and cardiac arrest in long QT syndrome: does progesterone represent a potential new antiarrhythmic therapy? (22381742)
2012
19
Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation. (20981542)
2011
20
Impaired cardiac sympathetic innervation in symptomatic patients with long QT syndrome. (21691919)
2011
21
Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2. (21632495)
2011
22
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. (21367833)
2011
23
Vasovagal syncope as a cause of syncope in long-QT syndrome. (21718921)
2011
24
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). (21915623)
2011
25
Placement of an implantable cardioverter-defibrillator in an infant with congenital long QT syndrome: anesthetic considerations. (21636934)
2011
26
Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutation. (21831960)
2011
27
Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3. (20339117)
2010
28
Trigger-specific risk factors and response to therapy in long QT syndrome type 2. (20850565)
2010
29
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (19926015)
2009
30
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. (18929331)
2008
31
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. (18464931)
2008
32
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. (18774102)
2008
33
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. (17592081)
2007
34
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. (18093912)
2007
35
Letter by O'Rourke regarding articles, "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome," "Cardiac sodium channel dysfunction in sudden infant death syndrome," and "Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?". (17646591)
2007
36
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. (16254012)
2006
37
Long QT syndrome and short QT syndrome: how to make correct diagnosis and what about eligibility for sports activity. (16645398)
2006
38
Effect of physical training on ventricular repolarization in type 1 long QT syndrome: a pilot study in asymptomatic carriers of the G589D KCNQ1 mutation. (16882680)
2006
39
Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. (16022964)
2005
40
Neonatal forms of congenital long QT syndrome]. (15214551)
2004
41
Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6. (12923204)
2003
42
Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)
2003
43
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. (9702906)
1998
44
Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome. (9834138)
1998
45
Genetics, molecular mechanisms and management of long QT syndrome. (9556090)
1998
46
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. (9272155)
1997
47
Molecular biology of the long QT syndrome: impact on management. (9272507)
1997
48
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. (9323054)
1997
49
Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. (8790040)
1996
50
A new form of long QT syndrome associated with syndactyly. (7798527)
1995

Variations for Long Qt Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Long Qt Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1KCNQ1NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val)single nucleotide variantLikely pathogenic, Pathogenicrs193922365GRCh37Chr 11, 2594200: 2594200

Expression for genes affiliated with Long Qt Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Long Qt Syndrome

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

Pathways for genes affiliated with Long Qt Syndrome

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50PathCards, 12EMD Millipore, 30KEGG, 55Reactome, 53QIAGEN, 38NCBI BioSystems Database, 51PharmGKB
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Compounds for genes affiliated with Long Qt Syndrome

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51PharmGKB, 45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Long Qt Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1flecainide51 45 29 1113.1KCNH2, SCN5A
2propafenone29 45 51 1113.1SCN5A, KCNH2
3mexiletine51 45 1112.1SCN5A, KCNH2
4clofilium45 2911.0KCNH2, KCNQ1
5cisapride45 29 1112.0SCN5A, KCNH2
6chromanol4510.0KCNQ1, KCNE1
7indapamide45 1111.0KCNQ1, KCNE1
8bepridil45 29 1111.9KCNH2, KCNQ1
9chromanol 293b61 45 2911.9KCNQ1, KCNE1
10qx 314 chloride619.9SCN4B, SCN5A
11quinidine45 29 51 1112.9SCN5A, KCNH2
12tetrodotoxin citrate619.9SCN4B, SCN5A
13katp459.9KCNH2, KCNQ1
14phrixotoxin 3619.9SCN4B, SCN5A
15veratridine45 61 2911.9SCN4B, SCN5A
16tetraethylammonium45 29 1111.8KCNH2, KCNQ1
17phenytoin45 51 29 1112.8SCN5A, KCNH2
18verapamil45 29 51 24 1113.8SCN5A, KCNH2
19zonisamide45 51 1111.7SCN5A, SCN4B
20isoleucine459.7SCN5A, KCNQ1, KCNH2
21tetrodotoxin45 61 2911.5SCN5A, SCN4B
22arginine459.1SCN5A, KCNQ1, KCNE1, KCNH2
23xe 991 dihydrochloride619.1KCNH2, KCNE1, KCNE2, KCNQ1
24e-4031 dihydrochloride619.1KCNQ1, KCNE2, KCNE1, KCNH2
25jnj 303619.1KCNQ1, KCNE2, KCNE1, KCNH2
26shk-dap22619.1KCNQ1, KCNE2, KCNE1, KCNH2
27ica 110381619.1KCNQ1, KCNE2, KCNE1, KCNH2
28potassium45 24 1110.7KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
29serine458.6KCNH2, KCNE1, KCNQ1, SCN5A
30calcium45 51 24 1111.1KCNH2, KCNQ1, SCN5A, ANK2, SNTA1
31sodium45 248.4SNTA1, KCNH2, KCNE1, KCNE2, KCNQ1, SCN4B

GO Terms for genes affiliated with Long Qt Syndrome

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16Gene Ontology
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Cellular components related to Long Qt Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:0015189.7SCN4B, SCN5A
2T-tubuleGO:0303159.4ANK2, SCN5A
3Z discGO:0300189.4ANK2, KCNE1
4intercalated discGO:0147049.2SCN4B, SCN5A, ANK2
5lysosomeGO:0057649.2KCNQ1, KCNE2, KCNE1
6lateral plasma membraneGO:0163289.0SNTA1, SCN5A
7cell surfaceGO:0099868.9SCN5A, KCNE2, KCNE1, KCNH2
8voltage-gated potassium channel complexGO:0080768.9KCNQ1, KCNE2, KCNE1, KCNH2
9sarcolemmaGO:0423838.5SNTA1, ANK2, SCN5A, KCNQ1
10plasma membraneGO:0058867.7KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A, ANK2

Biological processes related to Long Qt Syndrome according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:08601010.0KCNH2, SCN5A
2regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.0SCN5A, KCNQ1
3AV node cell to bundle of His cell communicationGO:0860679.9SCN4B, SCN5A
4membrane depolarization during cardiac muscle cell action potentialGO:0860129.8SCN4B, SCN5A
5membrane depolarization during SA node cell action potentialGO:0860469.8SCN5A, ANK2
6regulation of delayed rectifier potassium channel activityGO:19022599.8KCNE1, KCNE2
7SA node cell to atrial cardiac muscle cell communicationGO:0860709.8SCN5A, ANK2
8membrane repolarizationGO:0860099.8KCNE1, KCNE2
9positive regulation of sodium ion transportGO:0107659.8SCN4B, SCN5A
10regulation of cardiac muscle cell contractionGO:0860049.7ANK2, SCN5A
11cellular response to cAMPGO:0713209.7KCNQ1, KCNE1
12atrial cardiac muscle cell action potentialGO:0860149.6ANK2, KCNQ1
13sodium ion transportGO:0068149.6SCN4B, SCN5A
14sensory perception of soundGO:0076059.6KCNQ1, KCNE1
15membrane repolarization during cardiac muscle cell action potentialGO:0860139.6KCNH2, KCNE1, KCNQ1
16positive regulation of potassium ion transmembrane transportGO:19013819.6KCNQ1, KCNE1, KCNH2
17regulation of sodium ion transmembrane transportGO:19023059.5SCN5A, SNTA1
18regulation of membrane repolarizationGO:0603069.5KCNH2, KCNE2, KCNQ1
19sodium ion transmembrane transportGO:0357259.5SCN5A, SCN4B
20regulation of potassium ion transmembrane transportGO:19013799.5KCNH2, KCNE1, KCNE2
21cellular response to drugGO:0356909.5KCNQ1, KCNE2, KCNH2
22cellular protein localizationGO:0346139.4ANK2, KCNE2
23male gonad developmentGO:0085849.3KCNQ1, KCNE1
24membrane repolarization during action potentialGO:0860119.1KCNH2, KCNE1, KCNE2, KCNQ1
25potassium ion exportGO:0714359.1KCNH2, KCNE1, KCNE2, KCNQ1
26potassium ion transmembrane transportGO:0718059.1KCNH2, KCNE1, KCNE2, KCNQ1
27regulation of heart rateGO:0020279.0SNTA1, ANK2, SCN5A
28cardiac muscle cell action potential involved in contractionGO:0860029.0KCNE1, KCNE2, SCN4B, SCN5A
29cardiac muscle contractionGO:0600488.6KCNH2, KCNQ1, SCN4B, SCN5A, ANK2
30regulation of heart rate by cardiac conductionGO:0860917.6ANK2, SCN5A, SCN4B, KCNQ1, KCNE2, KCNE1
31ventricular cardiac muscle cell action potentialGO:0860057.3KCNE1, KCNH2, KCNE2, KCNQ1, SCN5A, SNTA1
32regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603076.8SNTA1, ANK2, SCN5A, SCN4B, KCNQ1, KCNE2

Molecular functions related to Long Qt Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.9KCNQ1, KCNE1
2voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:0860069.8SCN5A, SCN4B
3voltage-gated sodium channel activityGO:0052489.8SCN4B, SCN5A
4scaffold protein bindingGO:0971109.7KCNQ1, SCN5A
5inward rectifier potassium channel activityGO:0052429.7KCNH2, KCNE2
6nitric-oxide synthase bindingGO:0509989.5SCN5A, SNTA1
7voltage-gated potassium channel activityGO:0052499.5KCNH2, KCNE1, KCNQ1
8sodium channel regulator activityGO:0170809.2SNTA1, SCN4B
9protein homodimerization activityGO:0428039.2KCNQ1, KCNE2, KCNH2
10potassium channel regulator activityGO:0154599.1ANK2, KCNE2, KCNE1
11calmodulin bindingGO:0055169.1SNTA1, SCN5A, KCNQ1
12voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022829.0KCNH2, KCNE1, KCNE2, KCNQ1
13delayed rectifier potassium channel activityGO:0052519.0KCNH2, KCNE1, KCNE2, KCNQ1
14ATPase bindingGO:0511178.9SNTA1, ANK2
15ion channel bindingGO:0443257.5SNTA1, ANK2, SCN5A, SCN4B, KCNQ1, KCNE2
16protein bindingGO:0055157.1KCNH2, KCNE1, KCNQ1, SCN5A, ANK2, SNTA1

Products for genes affiliated with Long Qt Syndrome

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Sources for Long Qt Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet