LQT
MCID: LNG028
MIFTS: 47

Long Qt Syndrome (LQT) malady

Summaries for Long Qt Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 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 brugada syndrome and long qt syndrome 1. An important gene associated with Long Qt Syndrome is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Gastric acid secretion and Potassium transporters: inward current. The compounds chromanol and clofilium have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

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:64 The long QT syndrome (LQTS) is a rare inherited heart condition in which delayed repolarization of the... more...

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

GeneReviews summary for rws

Aliases & Classifications for Long Qt Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 20GeneTests, 22GTR, 19GeneReviews, 47OMIM, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

long qt syndrome 8 43 10 45 61
romano-ward syndrome 8 19 61
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
ICD9CM27 426.82
NCIt40 C34786
MeSH35 D008133

Related Diseases for Long Qt Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome31.1KCNH2, KCNE2, KCNE1L, SCN5A, SCN4B, ANK2
2long qt syndrome 130.9KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A
3atrioventricular block30.9KCNH2, SCN5A
4sudden infant death syndrome30.9CAV3, SCN5A
5jervell-lange nielsen syndrome30.9KCNE1, KCNQ1
6catecholaminergic polymorphic ventricular tachycardia30.7RYR2
7timothy syndrome30.7KCNE1, SCN4B
8sudden cardiac death multi-gene panels30.4RYR2, MYH7, ANK2, SCN5A, KCNJ2, KCNH2
9familial atrial fibrillation30.3SCN5A, KCNQ1, KCNE2
10n syndrome11.1
11char syndrome10.8
12andersen-tawil syndrome10.5
13long qt syndrome 310.5
14hypertrophic cardiomyopathy10.5
15short syndrome10.5
16long qt syndrome 1110.5
17long qt syndrome 210.5
18long qt syndrome 510.5
19long qt syndrome 610.5
20long qt syndrome 910.5
21long qt syndrome 1210.5
22long qt syndrome 1310.5
23syncope10.5
24syndactyly10.5
25long qt syndrome 1010.5
26long qt syndrome 410.5
27long qt syndrome 810.5
28scn5a-related romano ward syndrome10.4
29young syndrome10.4
30hypokalemia10.3
31micro syndrome10.3
32left ventricular noncompaction10.3
33sudden arrhythmia death syndrome10.3
34fainting10.3
35tako-tsubo cardiomyopathy10.3
36epiphyseal dysplasia multiple with early-onset diabetes mellitus10.3
37rothmund-thomson syndrome10.2
38kearns-sayre syndrome10.2
39beckwith-wiedemann syndrome10.2
40triple-a syndrome10.2
41adult syndrome10.2
42williams syndrome10.2
43stress cardiomyopathy10.2
44say syndrome10.2
45storm syndrome10.2
46seizure disorder10.2
47long qt syndrome 1, acquired10.2
48acquired long qt syndrome, reduced10.2
49marfan syndrome10.1
50supravalvular aortic stenosis10.1

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



Diseases related to long qt syndrome

Clinical Features for Long Qt Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Long Qt Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Long Qt Syndrome

Drug clinical trials:

Search ClinicalTrials for Long Qt Syndrome

Search NIH Clinical Center for Long Qt Syndrome

Search CenterWatch for Long Qt Syndrome

Genetic Tests for Long Qt Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Long Qt Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Long Qt Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.9KCNE2, RYR2, ANK2, AKAP9, CAV3, KCNJ2
2MP:00053859.8RYR2, KCND3, KCNJ5, KCNQ1, KCNE1, KCNH2
3MP:00053699.8SNTA1, SCN5A, CAV3, KCNJ2, KCNH2, RYR2

Publications for Long Qt Syndrome

Genetic Variations for Long Qt Syndrome

Expression for genes affiliated with Long Qt Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 50PharmGKB
See all sources

Compounds for genes affiliated with Long Qt Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Long Qt Syndrome according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1chromanol4510.8KCNQ1, KCNE1
2clofilium45 2911.7KCNQ1, KCNH2
3indapamide45 1111.7KCNQ1, KCNE1
4chromanol 293b45 60 2912.7KCNE1, KCNQ1
5Dalfampridine 1110.7KCND2, KCND3
6propafenone45 50 29 1113.7KCNH2, SCN5A
7flecainide45 50 29 1113.7SCN5A, KCNH2, KCND2
8mexiletine45 1111.7SCN5A, KCNH2
9katp4510.7KCNH2, KCNJ5, KCNQ1
10isoleucine4510.7SCN5A, KCNH2, KCNQ1
11pip22910.7KCNJ5, KCNQ1
12tetrodotoxin citrate6010.7SCN4B, SCN5A
13glibenclamide45 29 50 6013.7KCNJ5, KCNQ1, KCNJ2
14cromakalim45 2911.6KCNQ1, KCNJ5
15qx 314 chloride6010.6SCN4B, SCN5A
16tetraethylammonium45 29 1112.6KCNJ5, KCNQ1, KCNH2, KCNJ2
17phrixotoxin 36010.6SCN5A, SCN4B
18disopyramide45 1111.6KCND2, KCND3, SCN5A, KCNJ5
19ryanodine45 29 6012.6MYH7, RYR2, ANK2
20levcromakalim6010.6KCNJ5, KCNJ2
21bepridil45 29 1112.6KCNQ1, KCNH2
22p10756010.5KCNJ2, KCNJ5
23xe 991 dihydrochloride6010.5KCNE2, KCNH2, KCNE1, KCNQ1, KCND3, KCND2
24shk-dap226010.5KCND3, KCNQ1, KCND2, KCNE1, KCNH2, KCNE2
25e-4031 dihydrochloride6010.5KCNE2, KCNH2, KCNE1, KCNQ1, KCND3, KCND2
26ica 1103816010.5KCND2, KCND3, KCNE2, KCNH2, KCNE1, KCNQ1
27jnj 3036010.5KCNE2, KCNE1, KCNQ1, KCND3, KCND2, KCNH2
28arginine4510.5SCN5A, KCNE1, KCNH2, KCNJ2, MYH7, KCNQ1
29charybdotoxin45 2911.5KCNJ5, KCNQ1
30isoproterenol45 1111.5RYR2, MYH7, KCNH2, KCNQ1, KCNJ2, CAV3
31phospholipid4510.5KCNJ5, KCNH2, RYR2, KCNE1
32tertiapin-q6010.5KCNJ2, KCNJ5
33veratridine45 60 2912.4SCN4B, SCN5A
34lipid4510.4KCND3, KCNJ5, KCNE1, MYH7, RYR2, CAV3
35mg2+2910.3KCNJ2, RYR2
36verapamil45 50 29 11 2414.2KCNH2, RYR2, SCN5A
37sodium45 2411.2KCNQ1, KCNJ5, KCNE1, KCNH2, KCNE2, SCN4B
38nitric oxide45 11 2412.2SNTA1, CAV3, KCNE1, KCNJ5, RYR2
39potassium45 11 2412.1KCND2, RYR2, ZACN, SCN5A, KCNJ2, KCNE2
40calcium45 50 11 2413.1SCN5A, KCND3, KCNJ5, KCNQ1, KCNH2, KCNJ2
41cisapride45 29 1112.1KCNH2, SCN5A

GO Terms for genes affiliated with Long Qt Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:00151810.4SCN5A, SCN4B
2sarcolemmaGO:04238310.3KCNQ1, KCND3, ANK2, SNTA1, SCN5A, CAV3
3Z discGO:03001810.2ANK2, CAV3, RYR2, KCNE1, MYH7
4T-tubuleGO:03031510.2SCN5A, ANK2, CAV3
5cell surfaceGO:00998610.1KCND2, KCNE1, KCNE2, CAV3, SCN5A, KCNH2
6intercalated discGO:01470410.0SCN5A, ANK2, SCN4B
7voltage-gated potassium channel complexGO:00807610.0AKAP9, KCNQ1, KCND2, KCND3, KCNE1, KCNH2
8plasma membraneGO:0058869.7SCN5A, KCND2, ALG10B, ANK2, ZACN, CAV3

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization involved in regulation of SA node cell action potentialGO:08604610.7SCN5A, ANK2
2regulation of delayed rectifier potassium channel activityGO:190225910.7KCNE2, KCNE1
3regulation of calcium ion transmembrane transporter activityGO:190101910.7ANK2, CAV3
4T-tubule organizationGO:03329210.7ANK2, CAV3
5SA node cell to atrial cardiac muscle cell communicationGO:08607010.7ANK2, SCN5A
6membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.7SCN5A, KCNJ2, SCN4B
7membrane repolarizationGO:08600910.7KCNE2, KCNE1, KCND3
8negative regulation of potassium ion transmembrane transportGO:190138010.7KCNE1L, KCNH2, CAV3
9regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.7KCNE1L, KCNQ1, SCN5A
10membrane repolarization involved in regulation of cardiac muscle cell action potentialGO:08601310.7KCNQ1, KCNJ2, KCNE1, KCNH2
11AV node cell to bundle of His cell communicationGO:08606710.6SCN5A, SCN4B
12regulation of atrial cardiac muscle cell action potentialGO:08601410.6KCNE1L, ANK2, KCNQ1
13membrane depolarization involved in regulation of action potentialGO:08601010.6KCNH2, SCN5A
14positive regulation of potassium ion transmembrane transportGO:190138110.6KCNH2, KCNE1, KCNE1L, KCNQ1
15regulation of cardiac muscle contractionGO:05511710.6CAV3, ANK2, RYR2
16regulation of potassium ion transmembrane transportGO:190137910.6KCNE1, KCNE1L, KCNH2, KCNE2
17membrane repolarization involved in regulation of action potentialGO:08601110.6KCNJ2, KCNE2, KCNH2, KCNE1, KCNQ1
18regulation of cardiac muscle cell action potential involved in contractionGO:08600210.6SCN4B, SCN5A, KCNJ2, KCNE2, KCNE1
19cellular response to drugGO:03569010.6KCNH2, KCNE2, KCNQ1
20regulation of sodium ion transmembrane transportGO:190230510.6SNTA1, SCN5A
21sarcoplasmic reticulum calcium ion transportGO:07029610.6ANK2, RYR2
22regulation of heart contractionGO:00801610.6KCNQ1, CAV3, KCNE1L
23regulation of membrane repolarizationGO:06030610.6KCNJ2, KCNE1L, KCNE2, KCNH2, KCNQ1
24regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.6CAV3, SCN5A
25potassium ion importGO:01010710.5KCNE2, KCNJ2
26potassium ion exportGO:07143510.5KCND3, KCNQ1, KCNE1, KCNH2, KCNE2, KCNE1L
27potassium ion transmembrane transportGO:07180510.5KCNH2, KCNE1L, KCNJ2, KCNE2, KCNE1, KCNQ1
28regulation of heart rateGO:00202710.5RYR2, SNTA1, ANK2, MYH7, CAV3, SCN5A
29cellular response to epinephrine stimulusGO:07187210.5KCNQ1, RYR2
30regulation of cardiac muscle cell contractionGO:08600410.5SCN5A, ANK2
31cardiac muscle contractionGO:06004810.5KCNH2, RYR2, KCNQ1, KCNE1L, SCN5A, SCN4B
32regulation of sodium ion transmembrane transporter activityGO:200064910.4SCN4B, CAV3
33synaptic transmissionGO:00726810.4KCNH2, KCND3, KCNJ2, KCNJ5, KCND2, KCNQ1
34regulation of heart rate by cardiac conductionGO:08609110.4KCNJ2, KCNQ1, KCNE1, KCNH2, KCNE2, KCNE1L
35positive regulation of sodium ion transportGO:01076510.4SCN5A, SCN4B
36regulation of ventricular cardiac muscle cell membrane repolarizationGO:06030710.3KCNE1L, KCNQ1, KCNE1, KCNH2, ANK2, KCNE2
37regulation of ventricular cardiac muscle cell action potentialGO:08600510.3CAV3, SCN5A, SNTA1, ANK2, KCNE1L, KCNH2
38potassium ion transportGO:00681310.3KCND3, KCNJ5, KCNJ2
39sodium ion transmembrane transportGO:03572510.3SCN4B, SCN5A
40regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:01088110.0ANK2, RYR2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.6KCNE1, KCNH2, KCNE2, KCNQ1
2nitric-oxide synthase bindingGO:05099810.5SCN5A, CAV3, SNTA1
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:08600810.5KCNQ1, KCNE1, KCNE1L, KCNJ2
4inward rectifier potassium channel activityGO:00524210.5KCNE2, KCNH2, KCNJ5, KCNJ2
5voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potentialGO:08600610.5SCN5A, SCN4B
6A-type (transient outward) potassium channel activityGO:00525010.5KCND3, KCND2
7sodium channel regulator activityGO:01708010.5SNTA1, CAV3, SCN4B
8potassium channel regulator activityGO:01545910.5KCNE1L, KCNE1, KCNE2, ANK2
9voltage-gated potassium channel activityGO:00524910.4KCNQ1, KCND2, KCNE1L, KCNE1, KCNH2
10delayed rectifier potassium channel activityGO:00525110.4KCNQ1, KCND3, KCND2, KCNE1, KCNH2, KCNE2
11transferase activity, transferring hexosyl groupsGO:01675810.4ALG10B, ALG10
12calmodulin bindingGO:00551610.4RYR2, MYH7, SNTA1, SCN5A, KCNQ1
13protein kinase A regulatory subunit bindingGO:03423710.3RYR2, KCNQ1
14protein kinase A catalytic subunit bindingGO:03423610.2RYR2, KCNQ1
15ion channel bindingGO:04432510.1CAV3, KCNQ1, KCNE1L, KCND3, SCN5A, SCN4B
16voltage-gated sodium channel activityGO:00524810.1SCN4B, SCN5A
17protein bindingGO:0055159.7KCNH2, RYR2, KCNJ5, KCND2, CAV3, KCNE1

Products for genes affiliated with Long Qt Syndrome

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Sources for Long Qt Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet