MCID: FML191
MIFTS: 54

Familial Long Qt Syndrome

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

Aliases & Classifications for Familial Long Qt Syndrome

MalaCards integrated aliases for Familial Long Qt Syndrome:

Name: Familial Long Qt Syndrome 59
Congenital Long Qt Syndrome 59 29 6

Characteristics:

Orphanet epidemiological data:

59
familial long qt syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 I45.8
UMLS via Orphanet 73 C1141890
Orphanet 59 ORPHA768

Summaries for Familial Long Qt Syndrome

MalaCards based summary : Familial Long Qt Syndrome, also known as congenital long qt syndrome, is related to long qt syndrome 13 and long qt syndrome 9. An important gene associated with Familial Long Qt Syndrome is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Dexmedetomidine and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, 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 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 83)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 13 32.2 SCN5A KCNQ1 KCNH2
2 long qt syndrome 9 31.4 SCN5A KCNJ2
3 long qt syndrome 12 30.7 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
4 sick sinus syndrome 30.1 SCN5A CACNA1C
5 brugada syndrome 1 30.0 SCN5A KCNH2
6 long qt syndrome 5 29.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
7 cardiac arrest 29.6 SCN5A KCNQ1 KCNH2
8 sudden infant death syndrome 29.6 SCN5A KCNQ1 KCNH2
9 catecholaminergic polymorphic ventricular tachycardia 29.5 SCN5A KCNJ2 KCNH2
10 cardiac conduction defect 29.5 SCN5A KCNQ1 KCNH2
11 right bundle branch block 29.4 SCN5A CACNA1C
12 familial short qt syndrome 29.0 KCNQ1 KCNJ2 KCNH2
13 timothy syndrome 29.0 KCNQ1 KCNH2 KCNE1 CACNA1C
14 atrioventricular block 29.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
15 long qt syndrome 6 28.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
16 dilated cardiomyopathy 28.8 SCN5A KCNQ1 KCNH2 CACNA1C
17 syncope 28.6 SCN5A KCNQ1 KCNJ2 KCNH2
18 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 28.4 SCN5A KCNQ1 KCNJ2 KCNH2
19 ventricular fibrillation, paroxysmal familial, 1 28.4 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
20 brugada syndrome 28.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
21 long qt syndrome 3 28.0 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
22 jervell and lange-nielsen syndrome 1 27.9 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
23 long qt syndrome 2 27.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
24 long qt syndrome 27.3 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
25 atrial fibrillation 27.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
26 short qt syndrome 27.1 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
27 familial atrial fibrillation 26.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
28 andersen cardiodysrhythmic periodic paralysis 26.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
29 cardiac arrhythmia 26.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
30 long qt syndrome 1 26.6 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
31 long qt syndrome 8 11.6
32 long qt syndrome 11 11.3
33 branchiootic syndrome 1 10.5
34 arrhythmogenic right ventricular cardiomyopathy 10.2
35 hypokalemia 10.2
36 resting heart rate, variation in 10.2
37 seizure disorder 10.2
38 ptosis 10.1
39 hypertrophic cardiomyopathy 10.1
40 progressive familial heart block, type ia 10.0
41 sinoatrial node disease 10.0
42 left ventricular noncompaction 10.0
43 visual epilepsy 10.0
44 epilepsy 10.0
45 47,xyy 10.0
46 broken heart syndrome 10.0
47 fainting 10.0
48 virus-associated trichodysplasia spinulosa 10.0
49 tetralogy of fallot 9.9
50 williams-beuren syndrome 9.9

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
3 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
4 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
5 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363

MGI Mouse Phenotypes related to Familial Long Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 CACNA1C KCNH2 KCNJ2 KCNQ1 SCN5A
2 muscle MP:0005369 9.02 CACNA1C KCNH2 KCNJ2 KCNQ1 SCN5A

Drugs & Therapeutics for Familial Long Qt Syndrome

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
3
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
4
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
5
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
6
Polyestradiol phosphate Approved Phase 4 28014-46-2
7 Neurotransmitter Agents Phase 4
8 Adrenergic Agents Phase 4
9 Analgesics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic Agonists Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Central Nervous System Depressants Phase 4
16 Hypnotics and Sedatives Phase 4
17 Anesthetics Phase 4
18 Pharmaceutical Solutions Phase 4
19 Contraceptives, Oral Phase 4
20 Contraceptives, Oral, Combined Phase 4
21 Norgestimate, ethinyl estradiol drug combination Phase 4
22 Anti-Infective Agents Phase 4
23 Anti-Bacterial Agents Phase 4
24 Contraceptive Agents Phase 4
25 Topoisomerase Inhibitors Phase 4
26 Estradiol 3-benzoate Phase 4
27 Estradiol 17 beta-cypionate Phase 4
28
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
29 Sodium Channel Blockers Phase 2
30 Diuretics, Potassium Sparing Phase 2
31
Iron Approved, Experimental Phase 1 15438-31-0, 7439-89-6 23925 27284
32 Chelating Agents Phase 1
33
Dasatinib Approved, Investigational 302962-49-8 3062316
34
Propranolol Approved, Investigational 525-66-6 4946
35
Dopamine Approved 51-61-6, 62-31-7 681
36
Citalopram Approved 59729-33-8 2771
37
Methylphenidate Approved, Investigational 113-45-1 4158
38
carbamide peroxide Approved 124-43-6
39
Aspartic acid Approved, Nutraceutical 56-84-8 5960
40
Calcium Approved, Nutraceutical 7440-70-2 271
41 Grapefruit Seed Extract
42 Protein Kinase Inhibitors
43 Antihypertensive Agents
44 Adrenergic Antagonists
45 Vasodilator Agents
46 Anti-Arrhythmia Agents
47 Adrenergic beta-Antagonists
48 Antidepressive Agents
49 Natriuretic Peptide, Brain
50 Dopamine Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 The Effects of Dexmedetomidine on Myocardial Repolarization in Children Completed NCT02353169 Phase 4 Dexmedetomidine
2 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
3 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine Unknown status NCT01728025 Phase 2 Ranolazine
4 A Double-blind, Placebo-controlled Study to Evaluate the Effect of GS-6615 on QT, Safety and Tolerability in Subjects With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
5 A Food Effect and QTc Study of Perifosine in Patients With Advanced Malignancies Completed NCT01224730 Phase 1 perifosine
6 Phase Ib Clinical Study to Assess the Safety, Tolerability and Pharmacokinetic Parameters of CN128 Tablets to Administration in Thalassemia Patients Aged 16 and Above Completed NCT03935633 Phase 1 CN128 Tablets
7 A First in Human, Randomized, Double-blind, Single Ascending Dose, Phase Ia Clinical Study to Assess the Safety, Tolerability and Pharmacokinetic Parameters of CN128 Tablets in Thalassemia Patients Aged 16 and Above Recruiting NCT03673085 Phase 1 CN128
8 The Effect of Pink Grapefruit Juice on the QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Completed NCT02680080 Moxifloxacin
9 A Pilot Study of Neoadjuvant Dasatinib Followed by Radical Cystectomy for Transitional Cell Carcinoma of the Bladder Completed NCT00706641 Dasatinib
10 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
11 Obstructive Sleep Apnea and Cardiac Electrophysiologic Biomarkers of Sudden Cardiac Death Completed NCT03678311
12 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
13 National Long QT Syndrome Registry: Canadian Genetic Heart Rhythm Network |Research Data Registry and Bio Bank Recruiting NCT02425189
14 Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation. Active, not recruiting NCT03642405
15 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Active, not recruiting NCT03544918
16 Baby R. Case Report Proposal Terminated NCT00268060

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:

41
Heart, Testes, Brain, Liver, Eye, Thyroid, Skeletal Muscle

Publications for Familial Long Qt Syndrome

Articles related to Familial Long Qt Syndrome:

(show top 50) (show all 954)
# Title Authors PMID Year
1
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 38 71
25087618 2014
2
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 38 71
24917665 2014
3
Calmodulin mutations associated with recurrent cardiac arrest in infants. 38 71
23388215 2013
4
Modelling the long QT syndrome with induced pluripotent stem cells. 38 71
21240260 2011
5
Identification of a Kir3.4 mutation in congenital long QT syndrome. 38 71
20560207 2010
6
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 38 71
18551196 2008
7
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 38 71
18452873 2008
8
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 38 71
17592081 2007
9
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 38 71
17060380 2006
10
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 38 71
16246960 2005
11
Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation. 38 71
14756674 2004
12
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. 38 71
12354768 2002
13
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. 38 71
10772658 2000
14
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 38 71
10377081 1999
15
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 38 71
10220144 1999
16
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 38 71
9600240 1998
17
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 38 71
9506831 1998
18
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 38 71
9024139 1997
19
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. 38 71
8872472 1996
20
Missense mutation in the pore region of HERG causes familial long QT syndrome. 38 71
8635257 1996
21
Molecular mechanism for an inherited cardiac arrhythmia. 38 71
7651517 1995
22
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
23
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
24
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. 71
24574546 2014
25
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. 71
24076290 2014
26
Long QT genetics manifesting as atrial fibrillation. 71
23851063 2013
27
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
28
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. 71
23350853 2013
29
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
30
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 71
20660394 2010
31
Identification of the gene causing long QT syndrome in an Israeli family. 71
19070294 2008
32
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 71
19684871 2008
33
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 71
18591664 2008
34
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. 71
18580685 2008
35
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 71
18451998 2008
36
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 71
18093912 2007
37
Caveolinopathies 71
20301559 2007
38
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 71
17275750 2007
39
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 71
16922724 2006
40
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome. 71
16361248 2006
41
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 71
16414944 2005
42
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 71
15840476 2005
43
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. 71
15760896 2005
44
Molecular and muscle pathology in a series of caveolinopathy patients. 71
15580566 2005
45
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect. 71
15358555 2004
46
In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. 71
15280551 2004
47
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome. 71
15184283 2004
48
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 71
15178757 2004
49
Compound mutations: a common cause of severe long-QT syndrome. 71
15051636 2004
50
Risk stratification in the long-QT syndrome. 71
12736279 2003

Variations for Familial Long Qt Syndrome

ClinVar genetic disease variations for Familial Long Qt Syndrome:

6 (show top 50) (show all 893)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 11:2591912-2591912 11:2570682-2570682
2 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic rs104894252 11:2591945-2591945 11:2570715-2570715
3 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 11:2594211-2594211 11:2572981-2572981
4 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 11:2604678-2604678 11:2583448-2583448
5 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 11:2591949-2591949 11:2570719-2570719
6 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic rs120074179 11:2593319-2593319 11:2572089-2572089
7 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 11:2594112-2594112 11:2572882-2572882
8 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 11:2604765-2604765 11:2583535-2583535
9 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 11:2606443-2606443 11:2585213-2585213
10 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 11:2604683-2604683 11:2583453-2583453
11 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 11:2797262-2797262 11:2776032-2776032
12 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 11:2799233-2799233 11:2778003-2778003
13 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 11:2799239-2799239 11:2778009-2778009
14 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 11:2466678-2466678 11:2445448-2445448
15 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 11:2594100-2594100 11:2572870-2572870
16 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 11:2594101-2594101 11:2572871-2572871
17 KCNQ1 NM_000218.2(KCNQ1): c.728G> C (p.Arg243Pro) single nucleotide variant Pathogenic rs120074196 11:2593287-2593287 11:2572057-2572057
18 KCNE2 NM_172201.1(KCNE2): c.178T> C (p.Phe60Leu) single nucleotide variant Pathogenic rs16991654 21:35742955-35742955 21:34370656-34370656
19 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 17:68171392-68171392 17:70175251-70175251
20 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 17:68171832-68171832 17:70175691-70175691
21 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 17:68172079-68172079 17:70175938-70175938
22 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 17:68171379-68171379 17:70175238-70175238
23 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 17:68171737-68171737 17:70175596-70175596
24 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 17:68172084-68172084 17:70175943-70175943
25 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 17:68171826-68171826 17:70175685-70175685
26 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 17:68171404-68171404 17:70175263-70175263
27 SCN5A NM_000335.4(SCN5A): c.4928G> A (p.Arg1643His) single nucleotide variant Pathogenic rs28937316 3:38592932-38592932 3:38551441-38551441
28 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 3:38601909-38601909 3:38560418-38560418
29 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 3:38592479-38592479 3:38550988-38550988
30 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 3:38592995-38592995 3:38551504-38551504
31 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 7:150649662-150649662 7:150952574-150952574
32 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 7:150648703-150648703 7:150951615-150951615
33 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 7:150646072-150646072 7:150948984-150948984
34 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic rs121912507 7:150648599-150648599 7:150951511-150951511
35 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 7:150648737-150648737 7:150951649-150951649
36 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 7:150648767-150648767 7:150951679-150951679
37 KCNH2 NM_000238.3(KCNH2): c.1468G> A (p.Ala490Thr) single nucleotide variant Pathogenic rs28928905 7:150649602-150649602 7:150952514-150952514
38 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 7:150646083-150646083 7:150948995-150948995
39 SCN5A NM_000335.4(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 3:38622661-38622661 3:38581170-38581170
40 KCNE1 NM_000219.6(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 21:35821913-35821913 21:34449615-34449615
41 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 7:150671913-150671913 7:150974825-150974825
42 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 7:150645954-150645954 7:150948866-150948866
43 KCNH2 NM_000238.3(KCNH2): c.2842C> T (p.Arg948Cys) single nucleotide variant Pathogenic rs121912514 7:150644817-150644817 7:150947729-150947729
44 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 7:150648809-150648809 7:150951721-150951721
45 CACNA1C NM_000719.7(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 12:2614110-2614110 12:2504944-2504944
46 CACNA1C NM_000719.7(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs80315385 12:2614098-2614098 12:2504932-2504932
47 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 7:150648640-150648640 7:150951552-150951552
48 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 7:150648650-150648650 7:150951562-150951562
49 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 17:68172093-68172093 17:70175952-70175952
50 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 11:2592563-2592563 11:2571333-2571333

Copy number variations for Familial Long Qt Syndrome from CNVD:

7
# CNVD ID Chromosom 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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 SCN5A KCNQ1 KCNE1 CACNA1C
2
Show member pathways
12.23 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
3 11.99 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 CACNA1C
4
Show member pathways
11.85 KCNQ1 KCNJ2 KCNE2
5 11.82 SCN5A KCNQ1 KCNH2
6
Show member pathways
11.75 KCNQ1 KCNJ2 KCNH2
7
Show member pathways
11.53 SCN5A KCNQ1 KCNE2 KCNE1 CACNA1C
8 11.33 KCNJ2 CACNA1C
9 11.24 KCNQ1 CACNA1C
10 10.92 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
11 10.78 KCNQ1 KCNJ2 KCNE1

GO Terms for Familial Long Qt Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.87 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2 plasma membrane GO:0005886 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
3 lysosome GO:0005764 9.61 KCNQ1 KCNE2 KCNE1
4 cell surface GO:0009986 9.56 SCN5A KCNH2 KCNE2 KCNE1
5 intercalated disc GO:0014704 9.4 SCN5A KCNJ2
6 T-tubule GO:0030315 9.37 SCN5A KCNJ2
7 Z disc GO:0030018 9.13 SCN5A KCNE1 CACNA1C
8 voltage-gated potassium channel complex GO:0008076 9.02 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 membrane GO:0016020 10 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.95 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2 transmembrane transport GO:0055085 9.94 SCN5A KCNQ1 KCNH2 CACNA1C
3 potassium ion transmembrane transport GO:0071805 9.93 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4 potassium ion export across plasma membrane GO:0097623 9.81 KCNQ1 KCNH2 KCNE2 KCNE1
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.8 KCNQ1 KCNJ2 KCNH2 KCNE1
6 regulation of membrane repolarization GO:0060306 9.78 KCNQ1 KCNJ2 KCNH2 KCNE2
7 cellular response to drug GO:0035690 9.77 KCNQ1 KCNH2 KCNE2
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
9 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
10 cardiac muscle contraction GO:0060048 9.75 SCN5A KCNQ1 KCNH2
11 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNH2 KCNE2 KCNE1
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 SCN5A KCNJ2 CACNA1C
13 membrane repolarization GO:0086009 9.73 KCNQ1 KCNH2 KCNE2 KCNE1
14 ventricular cardiac muscle cell action potential GO:0086005 9.72 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNQ1 KCNJ2 KCNH2 KCNE1
16 regulation of ion transmembrane transport GO:0034765 9.7 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
17 cellular response to cAMP GO:0071320 9.65 KCNQ1 KCNE1
18 potassium ion import across plasma membrane GO:1990573 9.65 KCNJ2 KCNE2
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN5A KCNJ2 KCNE2 KCNE1 CACNA1C
20 ion transmembrane transport GO:0034220 9.64 SCN5A CACNA1C
21 membrane depolarization during action potential GO:0086010 9.63 SCN5A KCNH2
22 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.63 KCNE2 KCNE1
23 regulation of cardiac muscle cell contraction GO:0086004 9.62 SCN5A KCNJ2
24 atrial cardiac muscle cell action potential GO:0086014 9.62 SCN5A KCNQ1
25 regulation of delayed rectifier potassium channel activity GO:1902259 9.61 KCNE2 KCNE1
26 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 SCN5A KCNQ1
27 membrane depolarization during AV node cell action potential GO:0086045 9.6 SCN5A CACNA1C
28 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.58 SCN5A CACNA1C
29 membrane repolarization during action potential GO:0086011 9.35 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
30 regulation of heart rate by cardiac conduction GO:0086091 9.17 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
31 ion transport GO:0006811 10.07 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.73 SCN5A KCNQ1 KCNE2 KCNE1
2 calmodulin binding GO:0005516 9.67 SCN5A KCNQ1 CACNA1C
3 potassium channel activity GO:0005267 9.67 KCNQ1 KCNH2 KCNE2 KCNE1
4 ion channel activity GO:0005216 9.65 SCN5A KCNH2 CACNA1C
5 scaffold protein binding GO:0097110 9.63 SCN5A KCNQ1 KCNH2
6 voltage-gated potassium channel activity GO:0005249 9.62 KCNQ1 KCNH2 KCNE2 KCNE1
7 inward rectifier potassium channel activity GO:0005242 9.58 KCNJ2 KCNH2 KCNE2
8 delayed rectifier potassium channel activity GO:0005251 9.56 KCNQ1 KCNH2 KCNE2 KCNE1
9 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.52 KCNQ1 KCNJ2
10 potassium channel regulator activity GO:0015459 9.51 KCNE2 KCNE1
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNH2 KCNE2 KCNE1
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNQ1 KCNJ2 KCNH2 KCNE1
13 voltage-gated ion channel activity GO:0005244 9.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C

Sources for Familial Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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