LQTS
MCID: FML191
MIFTS: 55

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 72 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 Diuretics, Potassium Sparing 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 119)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 30.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
2 ventricular fibrillation, paroxysmal familial, 1 30.6 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
3 syncope 30.5 SCN5A KCNQ1 KCNH2
4 familial short qt syndrome 30.4 KCNQ1 KCNH2
5 long qt syndrome 11 30.3 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
6 long qt syndrome 13 30.3 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
7 sinoatrial node disease 30.1 SCN5A KCNQ1 KCNH2 ANK2
8 atrial fibrillation, familial, 3 30.1 KCNQ1OT1 KCNQ1-AS1 KCNQ1
9 long qt syndrome 5 30.1 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
10 progressive familial heart block, type ia 30.0 SCN5A DSP ANK2
11 long qt syndrome 6 30.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
12 sick sinus syndrome 30.0 SNTA1 SCN5A LOC110121269 ANK2
13 long qt syndrome 12 30.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
14 long qt syndrome 9 29.9 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
15 brugada syndrome 1 29.9 SCN5A LOC110121269 KCNH2 AKAP9
16 cardiac conduction defect 29.9 SCN5A KCNQ1 KCNH2 DSP
17 long qt syndrome 3 29.9 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1 KCNH2
18 arrhythmogenic right ventricular cardiomyopathy 29.9 SCN5A KCNH2 KCNE1 DSP ANK2 AKAP9
19 left bundle branch hemiblock 29.7 SCN5A DSP
20 short qt syndrome 29.6 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE2
21 cardiac arrhythmia, ankyrin-b-related 29.5 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
22 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 29.3 SCN5A KCNQ1 KCNH2 DSP CALM1 ANK2
23 left ventricular noncompaction 29.2 SNTA1 SCN5A LOC110121269 KCNQ1 KCNH2 KCNE1
24 atrial fibrillation 28.8 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
25 cardiac arrest 28.8 SCN5A KCNQ1 KCNH2 DSP CALM3 CALM1
26 cardiac arrhythmia 28.8 SCN5A LOC110121269 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
27 hypertrophic cardiomyopathy 28.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 DSP
28 sudden infant death syndrome 28.7 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1 KCNH2
29 timothy syndrome 28.4 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
30 long qt syndrome 10 28.3 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
31 jervell and lange-nielsen syndrome 1 28.3 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
32 andersen cardiodysrhythmic periodic paralysis 28.2 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
33 dilated cardiomyopathy 28.0 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
34 familial atrial fibrillation 27.9 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
35 catecholaminergic polymorphic ventricular tachycardia 27.6 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
36 brugada syndrome 27.4 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1-AS1 KCNQ1
37 long qt syndrome 2 27.3 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
38 long qt syndrome 26.6 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1 KCNQ1-AS1
39 long qt syndrome 1 25.9 SNTA1 SCN5A SCN4B LOC110121269 KCNQ1OT1 KCNQ1-AS1
40 long qt syndrome 8 11.2
41 qt interval, variation in 11.0
42 branchiootic syndrome 1 10.5
43 hypokalemia 10.3
44 resting heart rate, variation in 10.3
45 epilepsy 10.3
46 ventricular tachycardia, catecholaminergic polymorphic, 4 10.3 KCNQ1 CALM1
47 second-degree atrioventricular block 10.2 SCN5A CALM2
48 fainting 10.2
49 seizure disorder 10.2
50 developmental and epileptic encephalopathy 14 10.2 SCN5A KCNQ1 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
3 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
4 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
5 abdominal situs inversus 58 31 occasional (7.5%) Occasional (29-5%) 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 Diuretics, Potassium Sparing Phase 2
3 Sodium Channel Blockers Phase 2
4
Moxifloxacin Approved, Investigational 151096-09-2, 354812-41-2 152946
5 Grapefruit Seed Extract
6 Anti-Infective Agents
7 Anti-Bacterial 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 1010)
# Title Authors PMID Year
1
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 6 61
25087618 2014
2
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 61 6
24917665 2014
3
Calmodulin mutations associated with recurrent cardiac arrest in infants. 61 6
23388215 2013
4
Modelling the long QT syndrome with induced pluripotent stem cells. 6 61
21240260 2011
5
Identification of a Kir3.4 mutation in congenital long QT syndrome. 61 6
20560207 2010
6
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 6 61
18551196 2008
7
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 6 61
18452873 2008
8
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 61 6
17592081 2007
9
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 6 61
17060380 2006
10
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 6 61
16818214 2006
11
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 6 61
16246960 2005
12
Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation. 6 61
14756674 2004
13
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. 6 61
12354768 2002
14
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 61 6
10772658 2000
15
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 6 61
10377081 1999
16
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 61 6
10220144 1999
17
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 61 6
9600240 1998
18
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 61 6
9506831 1998
19
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 61 6
9024139 1997
20
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 61 6
8872472 1996
21
Missense mutation in the pore region of HERG causes familial long QT syndrome. 6 61
8635257 1996
22
Molecular mechanism for an inherited cardiac arrhythmia. 61 6
7651517 1995
23
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. 6
27765793 2017
24
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 6
27516456 2016
25
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 6
26969752 2016
26
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 6
24574546 2014
27
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 6
24076290 2014
28
Long QT genetics manifesting as atrial fibrillation. 6
23851063 2013
29
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. 6
23350853 2013
30
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 6
20660394 2010
31
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 6
19716085 2009
32
Identification of the gene causing long QT syndrome in an Israeli family. 6
19070294 2008
33
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 6
19684871 2008
34
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 6
18591664 2008
35
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 6
18580685 2008
36
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 6
18451998 2008
37
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 6
18752142 2008
38
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 6
18093912 2007
39
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 6
17275750 2007
40
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 6
16922724 2006
41
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 6
16361248 2006
42
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 6
16414944 2005
43
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 6
15840476 2005
44
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. 6
15760896 2005
45
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
46
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect. 6
15358555 2004
47
In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. 6
15280551 2004
48
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 6
15184283 2004
49
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 6
15178757 2004
50
Compound mutations: a common cause of severe long-QT syndrome. 6
15051636 2004

Variations for Familial Long Qt Syndrome

ClinVar genetic disease variations for Familial Long Qt Syndrome:

6 (show top 50) (show all 2553)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE2 NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) SNV Benign, risk factor 6053 rs74315447 21:35742938-35742938 21:34370639-34370639
2 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Conflicting interpretations of pathogenicity, risk factor 67509 rs36210422 7:150655537-150655537 7:150958449-150958449
3 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Likely benign, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
4 KCNH2 NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) SNV Pathogenic 14430 rs28928905 7:150649602-150649602 7:150952514-150952514
5 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) Deletion Pathogenic 53050 rs397508112 11:2591868-2591868 11:2570638-2570638
6 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
7 SCN5A NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) SNV Pathogenic 67838 rs199473220 3:38603913-38603913 3:38562422-38562422
8 SCN5A NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) SNV Pathogenic 201438 rs794728849 3:38655273-38655273 3:38613782-38613782
9 SCN5A NM_198056.2(SCN5A):c.612-229T>G SNV Pathogenic 587531 rs765669597 3:38655554-38655554 3:38614063-38614063
10 KCNH2 NM_000238.3(KCNH2):c.2705del (p.Pro902fs) Deletion Pathogenic 598783 rs1563148264 7:150644954-150644954 7:150947866-150947866
11 KCNH2 NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) SNV Pathogenic 67284 rs199472938 7:150648667-150648667 7:150951579-150951579
12 KCNQ1 NM_181798.1(KCNQ1):c.415del (p.Leu139fs) Deletion Pathogenic 53107 rs397508125 11:2594089-2594089 11:2572859-2572859
13 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) SNV Pathogenic 53022 rs199472821 11:2869078-2869078 11:2847848-2847848
14 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
15 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
16 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
17 KCNH2 NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) SNV Pathogenic 200407 rs794728382 7:150648050-150648050 7:150950962-150950962
18 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 7:150648595-150648595 7:150951507-150951507
19 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
20 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
21 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) SNV Pathogenic 52953 rs12720458 11:2606494-2606494 11:2585264-2585264
22 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
23 KCNQ1-AS1 NC_000011.9:g.(2683312_2790073)_(2799268_2868996)del Deletion Pathogenic 637974 11:2683312-2868996 11:2662082-2847766
24 KCNQ1 NM_181798.1(KCNQ1):c.1304+2T>C SNV Pathogenic 637975 rs1590081467 11:2797286-2797286 11:2776056-2776056
25 KCNH2 NM_000238.3(KCNH2):c.3108dup (p.Asp1037fs) Duplication Pathogenic 637977 rs1584843033 7:150644459-150644460 7:150947371-150947372
26 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) SNV Pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
27 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) SNV Pathogenic 639902 rs1595102640 14:90870831-90870831 14:90404487-90404487
28 KCNQ1 NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) SNV Pathogenic 53124 rs120074186 11:2594209-2594209 11:2572979-2572979
29 KCNQ1 NM_181798.1(KCNQ1):c.96+5G>A SNV Pathogenic 53047 rs397508111 11:2549253-2549253 11:2528023-2528023
30 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
31 KCNQ1 NM_181798.1(KCNQ1):c.326T>C (p.Leu109Pro) SNV Pathogenic 200820 rs794728512 11:2593266-2593266 11:2572036-2572036
32 KCNH2 NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) Duplication Pathogenic 692259 rs1584847173 7:150645607-150645608 7:150948519-150948520
33 KCNH2 NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) Deletion Pathogenic 692260 rs1584883087 7:150671856-150671874 7:150974768-150974786
34 KCNH2 NM_000238.4(KCNH2):c.1557+2T>C SNV Pathogenic 695023 rs1584855956 7:150649511-150649511 7:150952423-150952423
35 KCNH2 NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) Duplication Pathogenic 692257 rs1584843078 7:150644465-150644466 7:150947377-150947378
36 KCNQ1 NM_181798.1(KCNQ1):c.170A>C (p.Tyr57Ser) SNV Pathogenic 53064 rs199473397 11:2591931-2591931 11:2570701-2570701
37 KCNH2 NM_000238.4(KCNH2):c.46del (p.Asp16fs) Deletion Pathogenic 638156 rs1584885912 7:150674956-150674956 7:150977868-150977868
38 KCNQ1 NM_000218.3(KCNQ1):c.1251+1G>A SNV Pathogenic 812675 rs1589968661 11:2608923-2608923 11:2587693-2587693
39 CALM2 NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) SNV Pathogenic 812710 rs1573214163 2:47388894-47388894 2:47161755-47161755
40 KCNQ1 NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) Deletion Pathogenic 869433 11:2790100-2790109 11:2768870-2768879
41 KCNH2 NM_172057.2(KCNH2):c.1997del (p.Gly666fs) Deletion Pathogenic 200799 rs794728504 7:150644551-150644551 7:150947463-150947463
42 KCNH2 NM_000238.4(KCNH2):c.1102del (p.His368fs) Deletion Pathogenic 818076 rs1584863723 7:150654405-150654405 7:150957317-150957317
43 KCNH2 NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) SNV Pathogenic 869439 7:150672011-150672011 7:150974923-150974923
44 KCNQ1 NM_000218.3(KCNQ1):c.604+2T>C SNV Pathogenic 869440 11:2591986-2591986 11:2570756-2570756
45 KCNH2 NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) SNV Pathogenic 869431 7:150648548-150648548 7:150951460-150951460
46 CALM3 NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) SNV Pathogenic 409871 rs1060502608 19:47111841-47111841 19:46608584-46608584
47 KCNQ1 NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) SNV Pathogenic 265209 rs139042529 11:2591893-2591893 11:2570663-2570663
48 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 7:150648731-150648731 7:150951643-150951643
49 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
50 KCNQ1 NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) SNV Pathogenic 53028 rs199473443 11:2466347-2466347 11:2445117-2445117

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 all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 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
12.41 SCN5A SCN4B KCNQ1 KCNE1 CALM3 CALM2
5
Show member pathways
12.34 KCNQ1 KCNE2 CALM3 CALM2 CALM1
6 12.22 KCNQ1 KCNH2 KCNE2 KCNE1 CALM3 CALM2
7
Show member pathways
12.19 CALM3 CALM2 CALM1 AKAP9
8 12.04 CAV3 CALM3 CALM2 CALM1
9 12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
10
Show member pathways
11.98 SCN5A SCN4B ANK2
11
Show member pathways
11.98 CALM3 CALM2 CALM1
12
Show member pathways
11.96 CALM3 CALM2 CALM1
13
Show member pathways
11.95 CALM3 CALM2 CALM1
14
Show member pathways
11.92 CALM3 CALM2 CALM1
15
Show member pathways
11.9 CALM3 CALM2 CALM1
16 11.89 CALM3 CALM2 CALM1
17
Show member pathways
11.89 CALM3 CALM2 CALM1
18 11.87 CALM3 CALM2 CALM1
19 11.84 CALM3 CALM2 CALM1
20
Show member pathways
11.84 CALM3 CALM2 CALM1
21
Show member pathways
11.82 CALM3 CALM2 CALM1
22
Show member pathways
11.81 CALM3 CALM2 CALM1
23
Show member pathways
11.79 CALM3 CALM2 CALM1
24
Show member pathways
11.74 CALM3 CALM2 CALM1
25
Show member pathways
11.73 CALM3 CALM2 CALM1
26 11.72 CALM3 CALM2 CALM1
27
Show member pathways
11.71 CALM3 CALM2 CALM1
28 11.7 CALM3 CALM2 CALM1
29 11.66 CALM3 CALM2 CALM1
30
Show member pathways
11.64 CALM3 CALM2 CALM1
31 11.61 CALM3 CALM2 CALM1
32
Show member pathways
11.59 CALM3 CALM2 CALM1
33 11.51 CALM3 CALM2 CALM1
34 11.51 CALM3 CALM2 CALM1
35 11.32 CALM3 CALM2 CALM1
36 11.31 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
37 11.3 CALM3 CALM2 CALM1
38 11.27 CALM3 CALM2 CALM1
39 11.26 CAV3 CALM3 CALM2 CALM1
40 11.23 CALM3 CALM2 CALM1
41 11.21 SCN5A SCN4B ANK2
42 11.19 CALM3 CALM2 CALM1
43 11.17 CALM3 CALM2 CALM1
44 11.16 CALM3 CALM2 CALM1
45
Show member pathways
11.15 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 CALM3
46 11.01 CALM3 CALM2 CALM1
47 10.98 KCNQ1 KCNE1
48 10.93 CALM3 CALM2 CALM1
49 10.91 CALM3 CALM2 CALM1
50 10.72 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 10.25 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
2 cytoskeleton GO:0005856 10.08 SNTA1 DSP CALM3 CALM2 CALM1 ANK2
3 cell surface GO:0009986 9.96 SCN5A KCNH2 KCNE2 KCNE1 CAV3
4 membrane raft GO:0045121 9.85 KCNQ1 KCNE1 CAV3 ANK2
5 vesicle GO:0031982 9.8 CAV3 CALM3 CALM2 CALM1
6 lateral plasma membrane GO:0016328 9.7 SNTA1 SCN5A KCNQ1
7 sarcomere GO:0030017 9.69 CALM3 CALM2 CALM1
8 Z disc GO:0030018 9.67 SCN5A KCNE1 CAV3 ANK2
9 T-tubule GO:0030315 9.65 SCN5A CAV3 ANK2
10 spindle microtubule GO:0005876 9.63 CALM3 CALM2 CALM1
11 sarcolemma GO:0042383 9.62 SNTA1 SCN5A CAV3 ANK2
12 dystrophin-associated glycoprotein complex GO:0016010 9.58 SNTA1 CAV3
13 myelin sheath GO:0043209 9.58 CALM3 CALM2 CALM1
14 voltage-gated sodium channel complex GO:0001518 9.57 SCN5A SCN4B
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 10.16 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
2 regulation of ion transmembrane transport GO:0034765 10 SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
3 potassium ion transport GO:0006813 9.98 KCNE1 KCNE2 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.97 KCNE1 KCNE2 KCNH2 KCNQ1
5 G2/M transition of mitotic cell cycle GO:0000086 9.97 AKAP9 CALM1 CALM2 CALM3
6 muscle contraction GO:0006936 9.91 CALM1 CAV3 SNTA1
7 calcium-mediated signaling GO:0019722 9.9 CALM1 CALM2 CALM3
8 cellular response to drug GO:0035690 9.9 KCNE2 KCNH2 KCNQ1
9 response to calcium ion GO:0051592 9.89 CALM1 CALM2 CALM3
10 cellular response to cAMP GO:0071320 9.88 AKAP9 KCNE1 KCNQ1
11 positive regulation of protein serine/threonine kinase activity GO:0071902 9.88 CALM1 CALM2 CALM3
12 substantia nigra development GO:0021762 9.87 CALM1 CALM2 CALM3
13 cardiac muscle contraction GO:0060048 9.86 SCN5A SCN4B KCNQ1 KCNH2
14 regulation of cytokinesis GO:0032465 9.85 CALM1 CALM2 CALM3
15 positive regulation of DNA binding GO:0043388 9.84 CALM1 CALM2 CALM3
16 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.84 CALM1 CALM2 CALM3
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 CALM1 CALM2 CALM3
19 positive regulation of protein autophosphorylation GO:0031954 9.82 CALM1 CALM2 CALM3
20 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.82 CALM1 CALM2 CALM3
21 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.81 CALM1 CALM2 CALM3
22 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.81 CALM1 CALM2 CALM3
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 KCNE1 KCNE2 KCNH2
25 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNE1 KCNE2 KCNQ1
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 response to corticosterone GO:0051412 9.74 CALM1 CALM3
41 regulation of sodium ion transmembrane transporter activity GO:2000649 9.74 CAV3 SCN4B
42 positive regulation of sodium ion transport GO:0010765 9.74 SCN4B SCN5A
43 membrane depolarization during action potential GO:0086010 9.74 KCNH2 SCN5A
44 regulation of cardiac muscle cell contraction GO:0086004 9.74 ANK2 SCN5A
45 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.74 CALM3 CALM2 CALM1
46 establishment of protein localization to membrane GO:0090150 9.73 CALM1 CALM3
47 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 SCN4B SCN5A
48 regulation of synaptic vesicle endocytosis GO:1900242 9.73 CALM1 CALM3
49 negative regulation of potassium ion transmembrane transport GO:1901380 9.73 CAV3 KCNH2
50 T-tubule organization GO:0033292 9.73 ANK2 CAV3

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

(show all 28)
# 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 9.76 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 phosphatidylinositol 3-kinase binding GO:0043548 9.64 CALM3 CALM1
16 voltage-gated sodium channel activity GO:0005248 9.63 SCN5A SCN4B
17 inward rectifier potassium channel activity GO:0005242 9.63 KCNH2 KCNE2
18 protein phosphatase activator activity GO:0072542 9.63 CALM3 CALM2 CALM1
19 calcium channel inhibitor activity GO:0019855 9.62 CALM2 CALM1
20 nitric-oxide synthase regulator activity GO:0030235 9.61 CALM3 CALM1
21 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.61 KCNQ1 KCNH2 KCNE1
22 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.6 SCN5A SCN4B
23 type 3 metabotropic glutamate receptor binding GO:0031800 9.59 CALM3 CALM1
24 adenylate cyclase activator activity GO:0010856 9.54 CALM3 CALM2 CALM1
25 N-terminal myristoylation domain binding GO:0031997 9.5 CALM3 CALM2 CALM1
26 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
27 ion channel binding GO:0044325 9.4 SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
28 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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