LQTS
MCID: FML191
MIFTS: 54

Familial Long Qt Syndrome (LQTS)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Familial Long Qt Syndrome

MalaCards integrated aliases for Familial Long Qt Syndrome:

Name: Familial Long Qt Syndrome 58
Congenital Long Qt Syndrome 58 29 6
Lqts 58

Characteristics:

Orphanet epidemiological data:

58
familial long qt syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 33 I45.8
UMLS via Orphanet 71 C1141890
Orphanet 58 ORPHA768

Summaries for Familial Long Qt Syndrome

MalaCards based summary : Familial Long Qt Syndrome, also known as congenital long qt syndrome, is related to atrioventricular block and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Familial Long Qt Syndrome is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Developmental Biology and Transmission across Chemical Synapses. The drugs Ranolazine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and skeletal muscle, and related phenotypes are sensorineural hearing impairment and arrhythmia

Related Diseases for Familial Long Qt Syndrome

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 Familial Long Qt Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 31.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
2 ventricular fibrillation, paroxysmal familial, 1 30.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
3 familial short qt syndrome 30.6 KCNQ1 KCNH2
4 syncope 30.5 SCN5A KCNQ1 KCNH2
5 long qt syndrome 11 30.5 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
6 brugada syndrome 1 30.5 SCN5A LOC110121269 KCNH2 AKAP9
7 long qt syndrome 13 30.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
8 ventricular tachycardia, catecholaminergic polymorphic, 4 30.4 KCNQ1 CALM1
9 long qt syndrome 5 30.3 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
10 long qt syndrome 6 30.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
11 long qt syndrome 12 30.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
12 atrial fibrillation, familial, 3 30.1 KCNQ1OT1 KCNQ1-AS1 KCNQ1
13 sinoatrial node disease 30.1 SCN5A KCNQ1 KCNH2 ANK2
14 long qt syndrome 3 30.1 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1 KCNH2
15 cardiac conduction defect 30.1 SCN5A KCNQ1 DSP
16 progressive familial heart block, type ia 30.1 SCN5A DSP ANK2
17 sick sinus syndrome 30.1 SNTA1 SCN5A LOC110121269 ANK2
18 arrhythmogenic right ventricular cardiomyopathy 29.9 SCN5A KCNH2 KCNE1 DSP ANK2 AKAP9
19 long qt syndrome 14 29.8 SCN5A KCNQ1 KCNH2 CALM3 CALM1
20 cardiac arrhythmia, ankyrin-b-related 29.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
21 short qt syndrome 29.7 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE2
22 long qt syndrome 9 29.7 SSUH2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
23 left bundle branch hemiblock 29.6 SCN5A DSP
24 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 29.4 SCN5A KCNQ1 KCNH2 DSP CALM1 ANK2
25 left ventricular noncompaction 29.4 SNTA1 SCN5A LOC110121269 KCNQ1 KCNH2 KCNE1
26 cardiac arrhythmia 29.0 SCN5A LOC110121269 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
27 sudden infant death syndrome 28.9 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1 KCNH2
28 cardiac arrest 28.9 SCN5A KCNQ1 KCNH2 DSP CALM3 CALM1
29 atrial fibrillation 28.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
30 hypertrophic cardiomyopathy 28.6 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
31 timothy syndrome 28.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
32 jervell and lange-nielsen syndrome 1 28.6 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
33 long qt syndrome 10 28.5 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
34 andersen cardiodysrhythmic periodic paralysis 28.4 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
35 dilated cardiomyopathy 28.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
36 familial atrial fibrillation 28.1 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
37 catecholaminergic polymorphic ventricular tachycardia 27.9 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
38 long qt syndrome 2 27.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
39 brugada syndrome 27.5 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1 KCNQ1-AS1
40 long qt syndrome 26.4 SSUH2 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1
41 long qt syndrome 1 25.8 SSUH2 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1
42 long qt syndrome 8 11.2
43 qt interval, variation in 11.0
44 branchiootic syndrome 1 10.5
45 hypokalemia 10.3
46 resting heart rate, variation in 10.3
47 developmental and epileptic encephalopathy 14 10.2 SCN5A KCNQ1 KCNH2
48 brugada syndrome 4 10.2 SCN5A KCNQ1 KCNH2
49 sick sinus syndrome 1 10.2 SCN5A LOC110121269
50 first-degree atrioventricular block 10.2 SCN5A KCNH2

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



Diseases related to Familial Long Qt Syndrome

Symptoms & Phenotypes for Familial Long Qt Syndrome

Human phenotypes related to Familial Long Qt Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
2 arrhythmia 31 hallmark (90%) HP:0011675
3 atrioventricular block 31 frequent (33%) HP:0001678
4 anemia 31 occasional (7.5%) HP:0001903
5 abdominal situs inversus 31 occasional (7.5%) HP:0003363

Drugs & Therapeutics for Familial Long Qt Syndrome

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranolazine Approved, Investigational Phase 2 95635-55-5, 142387-99-3 56959
2 Sodium Channel Blockers Phase 2
3 Diuretics, Potassium Sparing Phase 2
4
Moxifloxacin Approved, Investigational 151096-09-2, 354812-41-2 152946
5 Grapefruit Seed Extract
6 Anti-Bacterial Agents
7 Anti-Infective Agents
8 Norgestimate, ethinyl estradiol drug combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
2 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Completed NCT03544918
3 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
4 Exercise in Genetic Cardiovascular Conditions (Lifestyle and Exercise in Hypertrophic Cardiomyopathy "LIVE-HCM"/Lifestyle and Exercise in the Long QT Syndrome "LIVE-LQTS" Active, not recruiting NCT02549664
5 Phase II Novel Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care Enrolling by invitation NCT04441892
6 Smartphone and Smartwatch Based ECG for Patients With Congenital Long QT Syndrome Not yet recruiting NCT04728100
7 Measurement of the Electromechanical Window to Improve the Diagnosis of Congenital Long QT Syndrome Not yet recruiting NCT04328376

Search NIH Clinical Center for Familial Long Qt Syndrome

Genetic Tests for Familial Long Qt Syndrome

Genetic tests related to Familial Long Qt Syndrome:

# Genetic test Affiliating Genes
1 Congenital Long Qt Syndrome 29

Anatomical Context for Familial Long Qt Syndrome

MalaCards organs/tissues related to Familial Long Qt Syndrome:

40
Heart, Eye, Skeletal Muscle, Endothelial

Publications for Familial Long Qt Syndrome

Articles related to Familial Long Qt Syndrome:

(show top 50) (show all 1162)
# Title Authors PMID Year
1
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. 6 61
29431731 2018
2
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 61 6
29532034 2018
3
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. 61 6
27871843 2017
4
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study. 61 6
27920829 2016
5
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. 6 61
27374306 2016
6
Long QT syndrome with mutations in three genes: A rare case. 6 61
25935074 2015
7
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 61 6
25087618 2014
8
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 61 6
24917665 2014
9
Congenital long QT syndrome with compound mutations in the KCNH2 gene. 6 61
24057343 2014
10
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 6 61
24958779 2014
11
Calmodulin mutations associated with recurrent cardiac arrest in infants. 61 6
23388215 2013
12
Modelling the long QT syndrome with induced pluripotent stem cells. 6 61
21240260 2011
13
Identification of a Kir3.4 mutation in congenital long QT syndrome. 6 61
20560207 2010
14
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 61 6
19843919 2009
15
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 6 61
18551196 2008
16
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 61 6
18452873 2008
17
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 6 61
18441445 2008
18
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 61 6
17592081 2007
19
Cardiac sodium channel dysfunction in sudden infant death syndrome. 61 6
17210841 2007
20
Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. 6 61
17161064 2006
21
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 61 6
17060380 2006
22
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 61 6
16818214 2006
23
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 61 6
16432067 2006
24
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 6 61
16246960 2005
25
Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome. 61 6
15781747 2005
26
Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation. 6 61
14756674 2004
27
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. 6 61
12808265 2003
28
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 61 6
12566567 2003
29
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. 61 6
12354768 2002
30
Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene. 6 61
12270925 2002
31
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. 61 6
12402336 2002
32
[Congenital long QT syndrome in newborns]. 6 61
12205790 2002
33
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 61 6
10727653 2000
34
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 61 6
10772658 2000
35
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 61 6
10377081 1999
36
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 61 6
10220144 1999
37
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 6 61
9600240 1998
38
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 6 61
9506831 1998
39
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 61 6
9024139 1997
40
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 6 61
8872472 1996
41
Missense mutation in the pore region of HERG causes familial long QT syndrome. 61 6
8635257 1996
42
Molecular mechanism for an inherited cardiac arrhythmia. 61 6
7651517 1995
43
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
44
Genetic Mosaicism in Calmodulinopathy. 6
31454269 2019
45
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 6
30382575 2019
46
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene. 6
29677589 2018
47
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 6
29372044 2018
48
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 6
29033053 2017
49
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 6
28944242 2017
50
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 6
27816319 2017

Variations for Familial Long Qt Syndrome

ClinVar genetic disease variations for Familial Long Qt Syndrome:

6 (show top 50) (show all 2586)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE2 NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) SNV Benign, risk factor 6053 rs74315447 GRCh37: 21:35742938-35742938
GRCh38: 21:34370639-34370639
2 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Conflicting interpretations of pathogenicity, risk factor 67509 rs36210422 GRCh37: 7:150655537-150655537
GRCh38: 7:150958449-150958449
3 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely benign, risk factor 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
4 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) SNV Pathogenic 14430 rs28928905 GRCh37: 7:150649602-150649602
GRCh38: 7:150952514-150952514
5 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 GRCh37: 7:150648595-150648595
GRCh38: 7:150951507-150951507
6 KCNE1 NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) SNV Pathogenic 547162 rs758346045 GRCh37: 21:35821795-35821795
GRCh38: 21:34449497-34449497
7 KCNE1 NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) SNV Pathogenic 547163 rs779124360 GRCh37: 21:35821883-35821883
GRCh38: 21:34449585-34449585
8 KCNE1 NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) SNV Pathogenic 547164 rs1244688796 GRCh37: 21:35821882-35821882
GRCh38: 21:34449584-34449584
9 SCN5A NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) SNV Pathogenic 67980 rs199473311 GRCh37: 3:38592561-38592561
GRCh38: 3:38551070-38551070
10 KCNQ1 NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) SNV Pathogenic 375455 rs1554958045 GRCh37: 11:2466443-2466443
GRCh38: 11:2445213-2445213
11 SCN5A NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) SNV Pathogenic 9401 rs137854618 GRCh37: 3:38607917-38607917
GRCh38: 3:38566426-38566426
12 KCNH2 NM_172056.2(KCNH2):c.678del (p.Ala228fs) Deletion Pathogenic 200783 rs794728496 GRCh37: 7:150655385-150655385
GRCh38: 7:150958297-150958297
13 KCNH2 NM_172056.2(KCNH2):c.2400T>A (p.Gly800=) SNV Pathogenic 560686 rs1563152963 GRCh37: 7:150647254-150647254
GRCh38: 7:150950166-150950166
14 KCNH2 NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) SNV Pathogenic 67323 rs199472961 GRCh37: 7:150648583-150648583
GRCh38: 7:150951495-150951495
15 KCNH2 NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) SNV Pathogenic 67248 rs9333649 GRCh37: 7:150648767-150648767
GRCh38: 7:150951679-150951679
16 KCNH2 NM_172056.2(KCNH2):c.1848C>G (p.Tyr616Ter) SNV Pathogenic 560696 rs1563156868 GRCh37: 7:150648633-150648633
GRCh38: 7:150951545-150951545
17 KCNQ1 NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) Deletion Pathogenic 438610 rs1554893092 GRCh37: 11:2593291-2593292
GRCh38: 11:2572061-2572062
18 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 GRCh37: 7:150648731-150648731
GRCh38: 7:150951643-150951643
19 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 GRCh37: 3:38592996-38592996
GRCh38: 3:38551505-38551505
20 KCNH2 NM_000238.3(KCNH2):c.2935_2939del (p.Lys979fs) Deletion Pathogenic 431036 rs1131692327 GRCh37: 7:150644720-150644724
GRCh38: 7:150947632-150947636
21 KCNH2 NM_000238.4(KCNH2):c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG (p.Ala990_Phe991insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer) Duplication Pathogenic 431374 GRCh37: 7:150644479-150644753
GRCh38: 7:150947389-150947390
22 KCNH2 NM_172056.2(KCNH2):c.2038del (p.Val680fs) Deletion Pathogenic 427944 rs1554425498 GRCh37: 7:150648116-150648116
GRCh38: 7:150951028-150951028
23 KCNH2 NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) SNV Pathogenic 67547 rs199472885 GRCh37: 7:150654573-150654573
GRCh38: 7:150957485-150957485
24 SCN5A NM_198056.2(SCN5A):c.5296A>T (p.Met1766Leu) SNV Pathogenic 446418 rs199473310 GRCh37: 3:38592567-38592567
GRCh38: 3:38551076-38551076
25 KCNH2 NM_000238.3(KCNH2):c.3202C>T (p.Gln1068Ter) SNV Pathogenic 446417 rs1554423863 GRCh37: 7:150644093-150644093
GRCh38: 7:150947005-150947005
26 SCN5A NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) SNV Pathogenic 68032 rs199473072 GRCh37: 3:38655264-38655264
GRCh38: 3:38613773-38613773
27 KCNH2 NM_172057.2(KCNH2):c.1436del (p.Asn479fs) Deletion Pathogenic 200654 rs794728446 GRCh37: 7:150646080-150646080
GRCh38: 7:150948992-150948992
28 KCNQ1OT1 , KCNQ1 NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) Deletion Pathogenic 496690 rs1554903804 GRCh37: 11:2683221-2683224
GRCh38: 11:2661991-2661994
29 KCNQ1 NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) Deletion Pathogenic 430941 rs1554919471 GRCh37: 11:2790091-2790091
GRCh38: 11:2768861-2768861
30 KCNQ1 NM_181798.1(KCNQ1):c.204del (p.Lys69fs) Deletion Pathogenic 53076 rs397508120 GRCh37: 11:2591964-2591964
GRCh38: 11:2570734-2570734
31 KCNQ1 NM_000218.3(KCNQ1):c.1732+5del Deletion Pathogenic 517664 rs1554920833 GRCh37: 11:2798265-2798265
GRCh38: 11:2777035-2777035
32 CALM2 NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) SNV Pathogenic 488476 rs1553431702 GRCh37: 2:47388869-47388869
GRCh38: 2:47161730-47161730
33 KCNH2 NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter) SNV Pathogenic 180379 rs730880116 GRCh37: 7:150655378-150655378
GRCh38: 7:150958290-150958290
34 CALM2 NM_001743.6(CALM2):c.287A>T (p.Asp96Val) SNV Pathogenic 183233 rs730882254 GRCh37: 2:47388996-47388996
GRCh38: 2:47161857-47161857
35 KCNH2 NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) SNV Pathogenic 67543 rs199472884 GRCh37: 7:150655147-150655147
GRCh38: 7:150958059-150958059
36 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 GRCh37: 7:150648731-150648731
GRCh38: 7:150951643-150951643
37 KCNH2 NM_172056.2(KCNH2):c.2230C>T (p.Arg744Ter) SNV Pathogenic 180383 rs189014161 GRCh37: 7:150647424-150647424
GRCh38: 7:150950336-150950336
38 CALM1 NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) SNV Pathogenic 183230 rs730882252 GRCh37: 14:90870826-90870826
GRCh38: 14:90404482-90404482
39 CALM1 NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) SNV Pathogenic 183231 rs199744595 GRCh37: 14:90871037-90871037
GRCh38: 14:90404693-90404693
40 KCNH2 NM_172056.2(KCNH2):c.1786C>G (p.Pro596Ala) SNV Pathogenic 218093 rs863225288 GRCh37: 7:150648695-150648695
GRCh38: 7:150951607-150951607
41 KCNH2 NM_172056.2(KCNH2):c.1672G>C (p.Ala558Pro) SNV Pathogenic 14444 rs121912516 GRCh37: 7:150648809-150648809
GRCh38: 7:150951721-150951721
42 KCNH2 NM_172056.2(KCNH2):c.656A>T (p.Asp219Val) SNV Pathogenic 157662 rs587777907 GRCh37: 7:150655407-150655407
GRCh38: 7:150958319-150958319
43 KCNH2 NM_172056.2(KCNH2):c.1655T>C (p.Leu552Ser) SNV Pathogenic 67225 rs199472918 GRCh37: 7:150648826-150648826
GRCh38: 7:150951738-150951738
44 KCNH2 NM_172056.2(KCNH2):c.453del (p.Thr152fs) Deletion Pathogenic 200598 rs761863251 GRCh37: 7:150656679-150656679
GRCh38: 7:150959591-150959591
45 KCNH2 NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) SNV Pathogenic 67279 rs199472936 GRCh37: 7:150648680-150648680
GRCh38: 7:150951592-150951592
46 KCNH2 NM_172056.2(KCNH2):c.2320G>T (p.Asp774Tyr) SNV Pathogenic 67385 rs199472995 GRCh37: 7:150647334-150647334
GRCh38: 7:150950246-150950246
47 SCN5A NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) SNV Pathogenic 67651 rs72549410 GRCh37: 3:38647549-38647549
GRCh38: 3:38606058-38606058
48 KCNH2 NM_172056.2(KCNH2):c.1920C>A (p.Phe640Leu) SNV Pathogenic 67336 rs199472970 GRCh37: 7:150648561-150648561
GRCh38: 7:150951473-150951473
49 SCN5A NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) SNV Pathogenic 207974 rs370694515 GRCh37: 3:38592170-38592170
GRCh38: 3:38550679-38550679
50 KCNE1 NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) SNV Pathogenic 13478 rs74315446 GRCh37: 21:35821712-35821712
GRCh38: 21:34449414-34449414

Copy number variations for Familial Long Qt Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 53139 11 2486738 2516911 Copy number KCNQ1 Congenital long qt syndrome
2 158599 21 34648096 34829283 Copy number Congenital long qt syndrome
3 175301 3 38587021 38616870 Copy number SCN5A Congenital long qt syndrome
4 222152 7 149931990 150094737 Copy number KCNH2 Congenital long qt syndrome

Expression for Familial Long Qt Syndrome

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

Pathways for Familial Long Qt Syndrome

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

(show top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 SCN5A SCN4B DSP CALM3 CALM2 CALM1
2
Show member pathways
12.95 KCNQ1 KCNH2 CALM3 CALM2 CALM1 AKAP9
3
Show member pathways
12.62 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
4
Show member pathways
12.59 SCN5A SCN4B CALM3 CALM2 CALM1
5
Show member pathways
12.41 SCN5A SCN4B KCNQ1 KCNE1 CALM3 CALM2
6
Show member pathways
12.34 KCNQ1 KCNE2 CALM3 CALM2 CALM1
7 12.22 KCNQ1 KCNH2 KCNE2 KCNE1 CALM3 CALM2
8
Show member pathways
12.19 CALM3 CALM2 CALM1 AKAP9
9
Show member pathways
12.18 CALM3 CALM2 CALM1
10 12.04 CAV3 CALM3 CALM2 CALM1
11 12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
12
Show member pathways
11.99 CALM3 CALM2 CALM1
13
Show member pathways
11.98 SCN5A SCN4B ANK2
14
Show member pathways
11.96 CALM3 CALM2 CALM1
15
Show member pathways
11.95 CALM3 CALM2 CALM1
16
Show member pathways
11.92 CALM3 CALM2 CALM1
17
Show member pathways
11.91 CALM3 CALM2 CALM1
18 11.9 CALM3 CALM2 CALM1
19
Show member pathways
11.89 CALM3 CALM2 CALM1
20 11.87 CALM3 CALM2 CALM1
21 11.85 CALM3 CALM2 CALM1
22
Show member pathways
11.84 CALM3 CALM2 CALM1
23
Show member pathways
11.82 CALM3 CALM2 CALM1
24
Show member pathways
11.81 CALM3 CALM2 CALM1
25
Show member pathways
11.79 CALM3 CALM2 CALM1
26
Show member pathways
11.75 CALM3 CALM2 CALM1
27
Show member pathways
11.74 CALM3 CALM2 CALM1
28 11.72 CALM3 CALM2 CALM1
29
Show member pathways
11.72 CALM3 CALM2 CALM1
30 11.7 CALM3 CALM2 CALM1
31 11.67 CALM3 CALM2 CALM1
32
Show member pathways
11.65 CALM3 CALM2 CALM1
33 11.61 CALM3 CALM2 CALM1
34
Show member pathways
11.6 CALM3 CALM2 CALM1
35 11.5 CALM3 CALM2 CALM1
36 11.32 CALM3 CALM2 CALM1
37 11.31 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
38 11.3 CALM3 CALM2 CALM1
39 11.27 CALM3 CALM2 CALM1
40 11.26 CAV3 CALM3 CALM2 CALM1
41 11.23 CALM3 CALM2 CALM1
42 11.21 SCN5A SCN4B ANK2
43 11.19 CALM3 CALM2 CALM1
44 11.17 CALM3 CALM2 CALM1
45 11.16 CALM3 CALM2 CALM1
46
Show member pathways
11.15 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CALM3
47 11.01 CALM3 CALM2 CALM1
48 10.98 KCNQ1 KCNE1
49 10.93 CALM3 CALM2 CALM1
50 10.91 CALM3 CALM2 CALM1

GO Terms for Familial Long Qt Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
2 cytoskeleton GO:0005856 10.09 SNTA1 DSP CALM3 CALM2 CALM1 ANK2
3 cell surface GO:0009986 9.96 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 membrane raft GO:0045121 9.84 KCNQ1 KCNE1 CAV3 ANK2
5 vesicle GO:0031982 9.8 CAV3 CALM3 CALM2 CALM1
6 Z disc GO:0030018 9.71 SCN5A KCNE1 CAV3 ANK2
7 lateral plasma membrane GO:0016328 9.7 SNTA1 SCN5A KCNQ1
8 sarcomere GO:0030017 9.69 CALM3 CALM2 CALM1
9 T-tubule GO:0030315 9.63 SCN5A CAV3 ANK2
10 sarcolemma GO:0042383 9.62 SNTA1 SCN5A CAV3 ANK2
11 spindle microtubule GO:0005876 9.61 CALM3 CALM2 CALM1
12 dystrophin-associated glycoprotein complex GO:0016010 9.58 SNTA1 CAV3
13 voltage-gated sodium channel complex GO:0001518 9.57 SCN5A SCN4B
14 myelin sheath GO:0043209 9.54 CALM3 CALM2 CALM1
15 calcium channel complex GO:0034704 9.43 CALM3 CALM2 CALM1
16 intercalated disc GO:0014704 9.35 SCN5A SCN4B DSP CAV3 ANK2
17 catalytic complex GO:1902494 9.33 CALM3 CALM2 CALM1
18 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNH2 KCNE2 KCNE1 CALM3 CALM2

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.17 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
2 regulation of ion transmembrane transport GO:0034765 10 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
3 potassium ion transport GO:0006813 9.98 KCNQ1 KCNH2 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 9.97 KCNQ1 KCNH2 KCNE2 KCNE1
5 G2/M transition of mitotic cell cycle GO:0000086 9.97 CALM3 CALM2 CALM1 AKAP9
6 muscle contraction GO:0006936 9.92 SNTA1 CAV3 CALM1
7 calcium-mediated signaling GO:0019722 9.9 CALM3 CALM2 CALM1
8 cellular response to drug GO:0035690 9.9 KCNQ1 KCNH2 KCNE2
9 response to calcium ion GO:0051592 9.89 CALM3 CALM2 CALM1
10 cellular response to cAMP GO:0071320 9.89 KCNQ1 KCNE1 AKAP9
11 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM3 CALM2 CALM1
12 substantia nigra development GO:0021762 9.86 CALM3 CALM2 CALM1
13 cardiac muscle contraction GO:0060048 9.86 SCN5A SCN4B KCNQ1 KCNH2
14 regulation of cytokinesis GO:0032465 9.85 CALM3 CALM2 CALM1
15 positive regulation of DNA binding GO:0043388 9.84 CALM3 CALM2 CALM1
16 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.84 CALM3 CALM2 CALM1
17 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.84 CALM3 CALM2 CALM1 ANK2
18 positive regulation of protein dephosphorylation GO:0035307 9.83 CALM3 CALM2 CALM1
19 positive regulation of protein autophosphorylation GO:0031954 9.82 CALM3 CALM2 CALM1
20 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.82 CALM3 CALM2 CALM1
21 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.81 CALM3 CALM2 CALM1
22 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.81 CALM3 CALM2 CALM1
23 cardiac muscle cell action potential involved in contraction GO:0086002 9.81 SCN5A SCN4B KCNE2 KCNE1
24 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNH2 KCNE2 KCNE1
25 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNQ1 KCNE2 KCNE1
26 potassium ion export across plasma membrane GO:0097623 9.8 KCNQ1 KCNH2 KCNE2 KCNE1
27 cardiac conduction GO:0061337 9.8 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
28 regulation of heart rate GO:0002027 9.8 SNTA1 SCN5A CAV3 CALM3 CALM2 CALM1
29 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.79 CALM3 CALM2 CALM1
30 positive regulation of potassium ion transmembrane transport GO:1901381 9.79 KCNQ1 KCNH2 KCNE1
31 detection of calcium ion GO:0005513 9.78 CALM3 CALM2 CALM1
32 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.78 KCNQ1 KCNH2 KCNE2 KCNE1
33 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.77 CALM3 CALM2 CALM1
34 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.77 KCNQ1 KCNH2 KCNE1
35 regulation of cardiac muscle contraction GO:0055117 9.77 CAV3 CALM3 CALM2 CALM1 ANK2
36 atrial cardiac muscle cell action potential GO:0086014 9.76 SCN5A KCNQ1 ANK2
37 membrane repolarization GO:0086009 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
38 ventricular cardiac muscle cell action potential GO:0086005 9.76 SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
39 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.75 CALM3 CALM2 CALM1
40 regulation of sodium ion transmembrane transporter activity GO:2000649 9.74 SCN4B CAV3
41 response to corticosterone GO:0051412 9.74 CALM3 CALM1
42 membrane depolarization during action potential GO:0086010 9.74 SCN5A KCNH2
43 positive regulation of sodium ion transport GO:0010765 9.74 SCN5A SCN4B
44 establishment of protein localization to membrane GO:0090150 9.74 CALM3 CALM1
45 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.74 CALM3 CALM2 CALM1
46 regulation of cardiac muscle cell contraction GO:0086004 9.73 SCN5A ANK2
47 regulation of synaptic vesicle endocytosis GO:1900242 9.73 CALM3 CALM1
48 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 SCN5A SCN4B
49 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 KCNH2 CAV3
50 T-tubule organization GO:0033292 9.73 CAV3 ANK2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 10.01 SCN5A CALM3 CALM2 CALM1 ANK2
2 protein domain specific binding GO:0019904 9.92 SCN5A CALM3 CALM2 CALM1
3 potassium channel activity GO:0005267 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
4 voltage-gated potassium channel activity GO:0005249 9.83 KCNQ1 KCNH2 KCNE2 KCNE1
5 scaffold protein binding GO:0097110 9.78 SCN5A KCNQ1 KCNH2 DSP
6 potassium channel regulator activity GO:0015459 9.77 KCNE2 KCNE1 AKAP9
7 disordered domain specific binding GO:0097718 9.75 CALM3 CALM2 CALM1
8 sodium channel regulator activity GO:0017080 9.74 SNTA1 SCN4B CAV3
9 protein serine/threonine kinase activator activity GO:0043539 9.73 CALM3 CALM2 CALM1
10 voltage-gated ion channel activity GO:0005244 9.73 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
11 enzyme regulator activity GO:0030234 9.72 CALM3 CALM2 CALM1
12 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE2 KCNE1
13 titin binding GO:0031432 9.69 CALM3 CALM2 CALM1
14 adenylate cyclase binding GO:0008179 9.67 CALM3 CALM2 CALM1
15 inward rectifier potassium channel activity GO:0005242 9.63 KCNH2 KCNE2
16 protein phosphatase activator activity GO:0072542 9.63 CALM3 CALM2 CALM1
17 calcium channel inhibitor activity GO:0019855 9.62 CALM2 CALM1
18 nitric-oxide synthase regulator activity GO:0030235 9.61 CALM3 CALM1
19 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.61 KCNQ1 KCNH2 KCNE1
20 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.6 SCN5A SCN4B
21 type 3 metabotropic glutamate receptor binding GO:0031800 9.58 CALM3 CALM1
22 adenylate cyclase activator activity GO:0010856 9.54 CALM3 CALM2 CALM1
23 N-terminal myristoylation domain binding GO:0031997 9.5 CALM3 CALM2 CALM1
24 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
25 ion channel binding GO:0044325 9.4 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
26 nitric-oxide synthase binding GO:0050998 9.35 SNTA1 SCN5A CAV3 CALM3 CALM1

Sources for Familial Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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