MCID: FML191
MIFTS: 43

Familial Long Qt Syndrome

Categories: Cardiovascular diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Long Qt Syndrome

MalaCards integrated aliases for Familial Long Qt Syndrome:

Name: Familial Long Qt Syndrome 55
Congenital Long Qt Syndrome 55 28 69

Characteristics:

Orphanet epidemiological data:

55
familial long qt syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA768
UMLS via Orphanet 70 C1141890
ICD10 via Orphanet 33 I45.8
UMLS 69 C1141890

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 9 and long qt syndrome 13, and has symptoms including sensorineural hearing impairment, atrioventricular block and anemia. 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 Circadian entrainment and Aldosterone synthesis and secretion. The drugs Ranolazine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are cardiovascular system and muscle

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
Familial Long Qt Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 31.4 KCNJ2 SCN5A
2 long qt syndrome 13 31.3 KCNH2 KCNQ1 SCN5A
3 long qt syndrome 12 29.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
4 long qt syndrome 3 29.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 long qt syndrome 5 29.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 long qt syndrome 2 29.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
7 long qt syndrome 1 28.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 long qt syndrome 6 28.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9 dilated cardiomyopathy 28.6 CACNA1C KCNQ1 SCN5A
10 long qt syndrome 27.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
11 long qt syndrome 11 11.0
12 cardiac conduction defect 10.1 KCNH2 SCN5A
13 right bundle branch block 9.9 CACNA1C SCN5A
14 cardiac arrest 9.9 KCNQ1 SCN5A
15 cardiac conduction disease with or without dilated cardiomyopathy 9.9 KCNH2 KCNQ1 SCN5A
16 third-degree atrioventricular block 9.8 KCNE2 SCN5A
17 sudden infant death syndrome 9.7 KCNH2 KCNQ1 SCN5A
18 hypokalemic periodic paralysis, type 1 9.7 CACNA1C KCNJ2
19 familial short qt syndrome 9.7 KCNH2 KCNJ2 KCNQ1
20 timothy syndrome 9.5 CACNA1C KCNE1 KCNH2 KCNQ1
21 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 KCNH2 KCNJ2 KCNQ1 SCN5A
22 syncope 9.4 KCNH2 KCNJ2 KCNQ1 SCN5A
23 cardiac arrhythmia 9.3 KCNE2 KCNH2 KCNQ1 SCN5A
24 andersen cardiodysrhythmic periodic paralysis 9.1 KCNE2 KCNJ2 KCNQ1 SCN5A
25 heart conduction disease 9.1 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
26 ventricular fibrillation, paroxysmal familial, 1 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 atrioventricular block 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 heart disease 8.8 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
29 jervell and lange-nielsen syndrome 1 8.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 brugada syndrome 8.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 intrinsic cardiomyopathy 8.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
32 catecholaminergic polymorphic ventricular tachycardia 8.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
33 familial atrial fibrillation 8.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
34 atrial fibrillation 8.4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
35 short qt syndrome 8.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 atrioventricular block 55 31 frequent (33%) Frequent (79-30%) HP:0001678
3 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
4 abdominal situs inversus 55 31 occasional (7.5%) Occasional (29-5%) HP:0003363
5 arrhythmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0011675

MGI Mouse Phenotypes related to Familial Long Qt Syndrome:

43
# 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 all 27)
# 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
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
5
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
6
Norgestimate Approved, Investigational Not Applicable 35189-28-7 6540478
7
Moxifloxacin Approved, Investigational Not Applicable 151096-09-2, 354812-41-2 152946
8
Ethinyl Estradiol Approved Not Applicable 57-63-6 5991
9 Adrenergic Agents Not Applicable
10 Adrenergic Antagonists Not Applicable
11 Adrenergic beta-Antagonists Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Vasodilator Agents Not Applicable
14 Anti-Arrhythmia Agents Not Applicable
15 Antihypertensive Agents Not Applicable
16 Estradiol valerate Not Applicable 979-32-8
17 Topoisomerase Inhibitors Not Applicable
18 Contraceptive Agents Not Applicable
19 Contraceptives, Oral Not Applicable
20 Contraceptives, Oral, Combined Not Applicable
21 Norgestimate, ethinyl estradiol drug combination Not Applicable
22 Anti-Bacterial Agents Not Applicable
23 Estradiol 17 beta-cypionate Not Applicable
24 Estradiol 3-benzoate Not Applicable
25 Anti-Infective Agents Not Applicable
26 Polyestradiol phosphate Not Applicable
27 Grapefruit Seed Extract Nutraceutical Not Applicable

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 Effect of Eleclazine on QT, Safety, and Tolerability in Adults With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
3 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Not Applicable Placebo;Propranolol LA
4 The Canadian National Long QT Syndrome Registry Recruiting NCT02425189
5 Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome Active, not recruiting NCT02680080 Not Applicable Moxifloxacin
6 Infant Medical Records: 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 28

Anatomical Context for Familial Long Qt Syndrome

MalaCards organs/tissues related to Familial Long Qt Syndrome:

38
Testes

Publications for Familial Long Qt Syndrome

Articles related to Familial Long Qt Syndrome:

(show all 21)
# Title Authors Year
1
Cardiovascular Effects of Energy Drinks in Familial Long QT Syndrome: A Randomized Cross-Over Study. ( 28189188 )
2017
2
Familial long QT syndrome and late development of dilated cardiomyopathy in a child with a KCNQ1 mutation: A case report. ( 28491650 )
2016
3
I^-Blocker Adherence in Familial Long QT Syndrome. ( 27516460 )
2016
4
Update on the Diagnosis and Management of Familial Long QT Syndrome. ( 27262388 )
2016
5
Factors influencing uptake of familial long QT syndrome genetic testing. ( 26544151 )
2015
6
Unmasking of familial long QT syndrome type 2 with crystal methamphetamine exposure. ( 24882508 )
2014
7
Familial long QT syndrome presented as ventricular tachycardia during anesthesia. ( 19076523 )
2009
8
Guidelines for the diagnosis and management of familial long QT syndrome. ( 17194624 )
2007
9
Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases. ( 16360080 )
2005
10
Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome. ( 15084216 )
2004
11
Malignant familial long QT syndrome. ( 12070560 )
2002
12
Clinical value of electrocardiographic parameters in genotyped individuals with familial long QT syndrome. ( 11341076 )
2001
13
Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. ( 11289718 )
2001
14
New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome. ( 10862104 )
2000
15
Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. ( 10807545 )
2000
16
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. ( 9799083 )
1998
17
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. ( 9600240 )
1998
18
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. ( 9024139 )
1997
19
Familial long QT syndrome: electrical storm and implantable cardioverter device therapy. ( 8615293 )
1996
20
Missense mutation in the pore region of HERG causes familial long QT syndrome. ( 8635257 )
1996
21
Scintigraphic pattern of regional cardiac sympathetic innervation in patients with familial long QT syndrome using positron emission tomography. ( 8491017 )
1993

Variations for Familial Long Qt Syndrome

ClinVar genetic disease variations for Familial Long Qt Syndrome:

6 (show top 50) (show all 234)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh37 Chromosome 17, 68171392: 68171392
2 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
3 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
4 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
5 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
6 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
7 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
8 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
9 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
10 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh37 Chromosome 3, 38601909: 38601909
11 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 GRCh37 Chromosome 3, 38592479: 38592479
12 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh37 Chromosome 3, 38592995: 38592995
13 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
14 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh37 Chromosome 3, 38622661: 38622661
15 KCNE1 NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh37 Chromosome 21, 35821913: 35821913
16 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
17 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
18 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh37 Chromosome 7, 150649662: 150649662
19 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh37 Chromosome 7, 150648703: 150648703
20 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
21 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912507 GRCh37 Chromosome 7, 150648599: 150648599
22 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
23 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 GRCh37 Chromosome 7, 150648767: 150648767
24 KCNH2 NM_000238.3(KCNH2): c.1468G> A (p.Ala490Thr) single nucleotide variant Pathogenic rs28928905 GRCh37 Chromosome 7, 150649602: 150649602
25 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
26 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic,risk factor rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
27 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh37 Chromosome 7, 150671913: 150671913
28 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh37 Chromosome 7, 150645954: 150645954
29 KCNH2 NM_000238.3(KCNH2): c.2842C> T (p.Arg948Cys) single nucleotide variant Pathogenic rs121912514 GRCh37 Chromosome 7, 150644817: 150644817
30 KCNH2 NM_000238.3(KCNH2): c.298C> G (p.Arg100Gly) single nucleotide variant Pathogenic rs121912515 GRCh37 Chromosome 7, 150671808: 150671808
31 KCNH2 NM_000238.3(KCNH2): c.1672G> C (p.Ala558Pro) single nucleotide variant Pathogenic rs121912516 GRCh37 Chromosome 7, 150648809: 150648809
32 CACNA1C NM_000719.6(CACNA1C): c.1216G> A (p.Gly406Arg) single nucleotide variant Pathogenic rs79891110 GRCh37 Chromosome 12, 2614110: 2614110
33 CACNA1C NM_000719.6(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs80315385 GRCh37 Chromosome 12, 2614098: 2614098
34 KCNH2 NM_000238.3(KCNH2): c.1841C> T (p.Ala614Val) single nucleotide variant Pathogenic rs199472944 GRCh37 Chromosome 7, 150648640: 150648640
35 KCNH2 NM_000238.3(KCNH2): c.1831T> C (p.Tyr611His) single nucleotide variant Pathogenic rs199472942 GRCh37 Chromosome 7, 150648650: 150648650
36 KCNJ2 NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro) single nucleotide variant Pathogenic rs199473387 GRCh37 Chromosome 17, 68172093: 68172093
37 KCNQ1 NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val) single nucleotide variant Pathogenic rs193922365 GRCh37 Chromosome 11, 2594200: 2594200
38 KCNQ1 NM_000218.2(KCNQ1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs151344631 GRCh37 Chromosome 11, 2592563: 2592563
39 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
40 KCNQ1 NM_000218.2(KCNQ1): c.1013C> T (p.Ser338Phe) single nucleotide variant Likely pathogenic rs199472758 GRCh37 Chromosome 11, 2604756: 2604756
41 KCNQ1 NM_000218.2(KCNQ1): c.1016T> C (p.Phe339Ser) single nucleotide variant Pathogenic rs199472759 GRCh37 Chromosome 11, 2604759: 2604759
42 KCNQ1 NM_000218.2(KCNQ1): c.1024C> T (p.Leu342Phe) single nucleotide variant Pathogenic rs199472760 GRCh37 Chromosome 11, 2604767: 2604767
43 KCNQ1 NM_000218.2(KCNQ1): c.1031C> T (p.Ala344Val) single nucleotide variant Pathogenic rs199472763 GRCh37 Chromosome 11, 2604774: 2604774
44 KCNQ1 NM_000218.2(KCNQ1): c.1033G> C (p.Gly345Arg) single nucleotide variant Pathogenic rs199473471 GRCh37 Chromosome 11, 2606442: 2606442
45 KCNQ1 NM_000218.2(KCNQ1): c.1046C> G (p.Ser349Trp) single nucleotide variant Pathogenic rs199472765 GRCh37 Chromosome 11, 2606455: 2606455
46 KCNQ1 NM_000218.2(KCNQ1): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs199473403 GRCh37 Chromosome 11, 2606467: 2606467
47 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 GRCh37 Chromosome 11, 2606494: 2606494
48 KCNQ1 NM_000218.2(KCNQ1): c.1087C> A (p.His363Asn) single nucleotide variant Pathogenic rs199473408 GRCh37 Chromosome 11, 2606496: 2606496
49 KCNQ1 NM_000218.2(KCNQ1): c.1096C> T (p.Arg366Trp) single nucleotide variant Pathogenic rs199473411 GRCh37 Chromosome 11, 2606505: 2606505
50 KCNQ1 NM_000218.2(KCNQ1): c.1140G> T (p.Arg380Ser) single nucleotide variant Likely pathogenic rs199472771 GRCh37 Chromosome 11, 2608811: 2608811

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 CACNA1C KCNJ2 KCNQ1
2
Show member pathways
12.34 CACNA1C KCNE1 KCNQ1 SCN5A
3
Show member pathways
12.23 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 11.99 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5
Show member pathways
11.85 KCNE2 KCNJ2 KCNQ1
6 11.82 KCNH2 KCNQ1 SCN5A
7
Show member pathways
11.75 KCNH2 KCNJ2 KCNQ1
8
Show member pathways
11.53 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
9 11.31 CACNA1C KCNJ2
10 11.24 CACNA1C KCNQ1
11 10.92 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
12 10.78 KCNE1 KCNJ2 KCNQ1

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 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 plasma membrane GO:0005886 9.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 lysosome GO:0005764 9.61 KCNE1 KCNE2 KCNQ1
4 cell surface GO:0009986 9.46 KCNE1 KCNE2 KCNH2 SCN5A
5 intercalated disc GO:0014704 9.4 KCNJ2 SCN5A
6 T-tubule GO:0030315 9.37 KCNJ2 SCN5A
7 Z disc GO:0030018 9.13 CACNA1C KCNE1 SCN5A
8 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.96 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 transmembrane transport GO:0055085 9.95 CACNA1C KCNH2 KCNQ1 SCN5A
3 potassium ion transmembrane transport GO:0071805 9.95 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 ion transmembrane transport GO:0034220 9.83 CACNA1C KCNQ1 SCN5A
5 positive regulation of potassium ion transmembrane transport GO:1901381 9.83 KCNE1 KCNH2 KCNJ2 KCNQ1
6 regulation of membrane repolarization GO:0060306 9.81 KCNE2 KCNH2 KCNJ2 KCNQ1
7 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
9 regulation of ion transmembrane transport GO:0034765 9.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
10 cellular response to drug GO:0035690 9.79 KCNE2 KCNH2 KCNQ1
11 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNE1 KCNH2 KCNJ2 KCNQ1
12 cardiac muscle contraction GO:0060048 9.77 KCNH2 KCNQ1 SCN5A
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
14 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
15 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNE1 KCNE2 KCNH2
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.74 CACNA1C KCNJ2 SCN5A
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
18 ventricular cardiac muscle cell action potential GO:0086005 9.72 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 regulation of heart rate by cardiac conduction GO:0086091 9.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20 cellular response to cAMP GO:0071320 9.66 KCNE1 KCNQ1
21 membrane depolarization during action potential GO:0086010 9.65 KCNH2 SCN5A
22 potassium ion import GO:0010107 9.65 KCNE2 KCNJ2
23 regulation of cardiac muscle cell contraction GO:0086004 9.64 KCNJ2 SCN5A
24 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.64 KCNE1 KCNE2
25 atrial cardiac muscle cell action potential GO:0086014 9.63 KCNQ1 SCN5A
26 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
27 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 KCNQ1 SCN5A
28 membrane depolarization during AV node cell action potential GO:0086045 9.62 CACNA1C SCN5A
29 potassium ion export across plasma membrane GO:0097623 9.61 KCNH2 KCNQ1
30 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 CACNA1C SCN5A
31 cardiac conduction GO:0061337 9.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 membrane repolarization during action potential GO:0086011 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 transport GO:0006810 10.13 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34 ion transport GO:0006811 10.08 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

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 calmodulin binding GO:0005516 9.67 CACNA1C KCNQ1 SCN5A
2 potassium channel activity GO:0005267 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
3 ion channel activity GO:0005216 9.65 CACNA1C KCNH2 SCN5A
4 ion channel binding GO:0044325 9.63 KCNE2 KCNQ1 SCN5A
5 voltage-gated potassium channel activity GO:0005249 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
7 inward rectifier potassium channel activity GO:0005242 9.58 KCNE2 KCNH2 KCNJ2
8 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
9 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.52 KCNJ2 KCNQ1
10 potassium channel regulator activity GO:0015459 9.51 KCNE1 KCNE2
11 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
13 voltage-gated ion channel activity GO:0005244 9.1 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A

Sources for Familial Long Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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