MCID: FML191
MIFTS: 44

Familial Long Qt Syndrome

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Familial Long Qt Syndrome

MalaCards integrated aliases for Familial Long Qt Syndrome:

Name: Familial Long Qt Syndrome 56
Congenital Long Qt Syndrome 56 29 69

Characteristics:

Orphanet epidemiological data:

56
familial long qt syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA768
UMLS via Orphanet 70 C1141890
ICD10 via Orphanet 34 I45.8

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-3, 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 Vascular smooth muscle contraction and Circadian entrainment. The drugs Menthol and Adrenergic beta-Antagonists 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 15 Long Qt Syndrome 9
Long Qt Syndrome-3 Long Qt Syndrome-11
Long Qt Syndrome 2 Long Qt Syndrome 1
Long Qt Syndrome-10 Long Qt Syndrome 13
Long Qt Syndrome 14 Long Qt Syndrome 12
Long Qt Syndrome 6 Long Qt Syndrome 5
Familial Long Qt Syndrome

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 10.9
2 long qt syndrome-3 10.9
3 long qt syndrome-11 10.9
4 long qt syndrome 2 10.9
5 long qt syndrome 1 10.9
6 long qt syndrome 13 10.9
7 long qt syndrome 12 10.9
8 long qt syndrome 6 10.9
9 long qt syndrome 5 10.9
10 long qt syndrome 10.3
11 umbilical hernia 10.0 KCNQ1 SCN5A
12 cardiac conduction disease with or without dilated cardiomyopathy 9.9 KCNH2 KCNQ1 SCN5A
13 lipodystrophy, familial partial, type 5 9.8 KCNJ2 SCN5A
14 hyperaldosteronism, familial, type iii 9.8 KCNH2 KCNQ1 SCN5A
15 uterine fibroid 9.8 CACNA1C SCN5A
16 endocardium disease 9.7 KCNE2 SCN5A
17 andersen syndrome 9.7
18 dilated cardiomyopathy 9.7
19 cardiomyopathy 9.7
20 acute poisoning by drugs with membrane-stabilizing effect 9.7 KCNH2 KCNJ2 KCNQ1
21 atrial fibrillation, familial, 10 9.6 KCNH2 KCNQ1 SCN5A
22 hypokalemic periodic paralysis, type 1 9.4 CACNA1C KCNJ2
23 brugada syndrome 3 9.3 CACNA1C KCNE1 KCNH2 KCNQ1
24 vascular erectile tumor 9.3 KCNH2 KCNJ2 KCNQ1 SCN5A
25 ventricular tachycardia, catecholaminergic polymorphic, 1 9.2 KCNH2 KCNJ2 KCNQ1 SCN5A
26 xanthogranulomatous pyelonephritis 9.1 KCNH2 KCNJ2 KCNQ1 SCN5A
27 microvillus inclusion disease 9.1 KCNE2 KCNJ2 SCN5A
28 syne1-related emery-dreifuss muscular dystrophy 8.8 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
29 prostate malignant phyllodes tumor 8.8 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
30 mental retardation, autosomal dominant 11 8.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 brugada syndrome 1 8.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
32 sick sinus syndrome 1 8.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 second-degree atrioventricular block 8.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
34 atrial fibrillation, familial, 3 8.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
35 hyperphosphatemia 8.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
36 short qt syndrome 1 8.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
37 zttk syndrome 8.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
38 autoimmune disease of skin and connective tissue 8.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
39 pigment dispersion syndrome 8.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
40 vitelliform macular dystrophy 8.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
41 acrofrontofacionasal dysostosis 7.9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
42 jervell and lange-nielsen syndrome 7.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
43 keppen-lubinsky syndrome 7.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
44 cone dystrophy 7.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
45 intellectual disability-cataracts-kyphosis syndrome 7.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46 hairy cell leukemia 7.5 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:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 atrioventricular block 56 32 frequent (33%) Frequent (79-30%) HP:0001678
3 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 abdominal situs inversus 56 32 occasional (7.5%) Occasional (29-5%) HP:0003363
5 arrhythmia 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Familial Long Qt Syndrome:

44
id 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 2 2216-51-5 16666
2 Adrenergic beta-Antagonists

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
2 Long QT Syndrome Screening in Newborns Recruiting NCT02412709 Phase 2
3 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
4 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176
5 The Canadian National Long QT Syndrome Registry Recruiting NCT02425189
6 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380
7 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450

Search NIH Clinical Center for Familial Long Qt Syndrome

Genetic Tests for Familial Long Qt Syndrome

Genetic tests related to Familial Long Qt Syndrome:

id 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:

39
Testes

Publications for Familial Long Qt Syndrome

Articles related to Familial Long Qt Syndrome:

(show all 21)
id 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
Update on the Diagnosis and Management of Familial Long QT Syndrome. ( 27262388 )
2016
4
I^-Blocker Adherence in Familial Long QT Syndrome. ( 27516460 )
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
Missense mutation in the pore region of HERG causes familial long QT syndrome. ( 8635257 )
1996
20
Familial long QT syndrome: electrical storm and implantable cardioverter device therapy. ( 8615293 )
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 236)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.532G> C (p.Ala178Pro) single nucleotide variant Pathogenic rs120074177 GRCh37 Chromosome 11, 2591912: 2591912
2 KCNQ1 NM_000218.2(KCNQ1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894252 GRCh37 Chromosome 11, 2591945: 2591945
3 KCNQ1 NM_000218.2(KCNQ1): c.916G> A (p.Gly306Arg) single nucleotide variant Pathogenic rs120074181 GRCh37 Chromosome 11, 2594211: 2594211
4 KCNQ1 NM_000218.2(KCNQ1): c.935C> T (p.Thr312Ile) single nucleotide variant Pathogenic rs120074182 GRCh37 Chromosome 11, 2604678: 2604678
5 KCNQ1 NM_000218.2(KCNQ1): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic rs120074178 GRCh37 Chromosome 11, 2591949: 2591949
6 KCNQ1 NM_000218.2(KCNQ1): c.760G> A (p.Val254Met) single nucleotide variant Pathogenic/Likely pathogenic rs120074179 GRCh37 Chromosome 11, 2593319: 2593319
7 KCNQ1 NM_000218.2(KCNQ1): c.817C> T (p.Leu273Phe) single nucleotide variant Pathogenic rs120074180 GRCh37 Chromosome 11, 2594112: 2594112
8 KCNQ1 NM_000218.2(KCNQ1): c.1022C> A (p.Ala341Glu) single nucleotide variant Pathogenic rs12720459 GRCh37 Chromosome 11, 2604765: 2604765
9 KCNQ1 NM_000218.2(KCNQ1): c.1034G> A (p.Gly345Glu) single nucleotide variant Pathogenic rs120074183 GRCh37 Chromosome 11, 2606443: 2606443
10 KCNQ1 NM_000218.2(KCNQ1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs120074184 GRCh37 Chromosome 11, 2604683: 2604683
11 KCNQ1 NM_000218.2(KCNQ1): c.1663C> T (p.Arg555Cys) single nucleotide variant Pathogenic rs120074185 GRCh37 Chromosome 11, 2797262: 2797262
12 KCNQ1 NM_000218.2(KCNQ1): c.914G> C (p.Trp305Ser) single nucleotide variant Pathogenic rs120074186 GRCh37 Chromosome 11, 2594209: 2594209
13 KCNQ1 NM_000218.2(KCNQ1): c.1573G> A (p.Ala525Thr) single nucleotide variant Pathogenic rs120074188 GRCh37 Chromosome 11, 2790132: 2790132
14 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
15 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
16 KCNQ1 NM_000218.2(KCNQ1): c.350C> T (p.Pro117Leu) single nucleotide variant Pathogenic rs120074191 GRCh37 Chromosome 11, 2466678: 2466678
17 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic,risk factor rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
18 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
19 KCNQ1 NM_000218.2(KCNQ1): c.806G> A (p.Gly269Asp) single nucleotide variant Pathogenic rs120074194 GRCh37 Chromosome 11, 2594101: 2594101
20 KCNQ1 NM_000218.2(KCNQ1): c.728G> C (p.Arg243Pro) single nucleotide variant Pathogenic rs120074196 GRCh37 Chromosome 11, 2593287: 2593287
21 KCNE2 NM_172201.1(KCNE2): c.161T> C (p.Met54Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74315447 GRCh37 Chromosome 21, 35742938: 35742938
22 KCNE2 NM_172201.1(KCNE2): c.178T> C (p.Phe60Leu) single nucleotide variant Pathogenic rs16991654 GRCh37 Chromosome 21, 35742955: 35742955
23 KCNJ2 NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val) single nucleotide variant Pathogenic rs104894575 GRCh37 Chromosome 17, 68171392: 68171392
24 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
25 KCNJ2 NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val) single nucleotide variant Pathogenic rs104894579 GRCh37 Chromosome 17, 68172079: 68172079
26 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
27 KCNJ2 NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu) single nucleotide variant Pathogenic rs104894581 GRCh37 Chromosome 17, 68171737: 68171737
28 KCNJ2 NM_000891.2(KCNJ2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic rs104894582 GRCh37 Chromosome 17, 68172084: 68172084
29 KCNJ2 NM_000891.2(KCNJ2): c.646A> C (p.Asn216His) single nucleotide variant Pathogenic rs104894583 GRCh37 Chromosome 17, 68171826: 68171826
30 KCNJ2 NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
31 SCN5A NM_198056.2(SCN5A): c.4931G> A (p.Arg1644His) single nucleotide variant Pathogenic rs28937316 GRCh37 Chromosome 3, 38592932: 38592932
32 SCN5A NM_000335.4(SCN5A): c.3971A> G (p.Asn1324Ser) single nucleotide variant Pathogenic rs28937317 GRCh37 Chromosome 3, 38601909: 38601909
33 SCN5A NM_000335.4(SCN5A): c.5381A> G (p.Tyr1794Cys) single nucleotide variant Pathogenic rs137854614 GRCh37 Chromosome 3, 38592479: 38592479
34 SCN5A NM_000335.4(SCN5A): c.4865G> A (p.Arg1622Gln) single nucleotide variant Pathogenic rs137854600 GRCh37 Chromosome 3, 38592995: 38592995
35 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
36 SCN5A NM_198056.2(SCN5A): c.2989G> T (p.Ala997Ser) single nucleotide variant Pathogenic rs137854609 GRCh37 Chromosome 3, 38622661: 38622661
37 KCNE1 NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh37 Chromosome 21, 35821913: 35821913
38 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
39 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799
40 KCNH2 NM_000238.3(KCNH2): c.1408A> G (p.Asn470Asp) single nucleotide variant Pathogenic rs121912505 GRCh37 Chromosome 7, 150649662: 150649662
41 KCNH2 NM_000238.3(KCNH2): c.1778T> G (p.Ile593Arg) single nucleotide variant Pathogenic rs28928904 GRCh37 Chromosome 7, 150648703: 150648703
42 KCNH2 NM_000238.3(KCNH2): c.2464G> A (p.Val822Met) single nucleotide variant Pathogenic rs121912506 GRCh37 Chromosome 7, 150646072: 150646072
43 KCNH2 NM_000238.3(KCNH2): c.1882G> A (p.Gly628Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912507 GRCh37 Chromosome 7, 150648599: 150648599
44 KCNH2 NM_000238.3(KCNH2): c.1744C> T (p.Arg582Cys) single nucleotide variant Pathogenic rs121912508 GRCh37 Chromosome 7, 150648737: 150648737
45 KCNH2 NM_000238.3(KCNH2): c.1714G> C (p.Gly572Arg) single nucleotide variant Pathogenic rs9333649 GRCh37 Chromosome 7, 150648767: 150648767
46 KCNH2 NM_000238.3(KCNH2): c.1468G> A (p.Ala490Thr) single nucleotide variant Pathogenic rs28928905 GRCh37 Chromosome 7, 150649602: 150649602
47 KCNH2 NM_000238.3(KCNH2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912510 GRCh37 Chromosome 7, 150646083: 150646083
48 KCNH2 NM_000238.3(KCNH2): c.2350C> T (p.Arg784Trp) single nucleotide variant Likely pathogenic,risk factor rs12720441 GRCh37 Chromosome 7, 150647304: 150647304
49 KCNH2 NM_000238.3(KCNH2): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs121912511 GRCh37 Chromosome 7, 150671913: 150671913
50 KCNH2 NM_000238.3(KCNH2): c.2582A> T (p.Asn861Ile) single nucleotide variant Pathogenic rs121912513 GRCh37 Chromosome 7, 150645954: 150645954

Copy number variations for Familial Long Qt Syndrome from CNVD:

7
id 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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 CACNA1C KCNE1 KCNJ2 KCNQ1 SCN5A
2
Show member pathways
12.35 CACNA1C KCNJ2 KCNQ1
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:

id 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 33)
id Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.96 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 transmembrane transport GO:0055085 9.95 CACNA1C KCNH2 KCNQ1 SCN5A
3 potassium ion transport GO:0006813 9.95 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 positive regulation of potassium ion transmembrane transport GO:1901381 9.83 KCNE1 KCNH2 KCNJ2 KCNQ1
5 regulation of membrane repolarization GO:0060306 9.81 KCNE2 KCNH2 KCNJ2 KCNQ1
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
7 regulation of ion transmembrane transport GO:0034765 9.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 cellular response to drug GO:0035690 9.79 KCNE2 KCNH2 KCNQ1
9 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNE1 KCNH2 KCNJ2 KCNQ1
10 cardiac muscle contraction GO:0060048 9.77 KCNH2 KCNQ1 SCN5A
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
12 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
13 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNE1 KCNE2 KCNH2
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.74 CACNA1C KCNJ2 SCN5A
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
16 ventricular cardiac muscle cell action potential GO:0086005 9.72 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 regulation of heart rate by cardiac conduction GO:0086091 9.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
18 membrane repolarization GO:0086009 9.67 KCNE1 KCNE2 KCNQ1
19 cellular response to cAMP GO:0071320 9.66 KCNE1 KCNQ1
20 membrane depolarization during action potential GO:0086010 9.65 KCNH2 SCN5A
21 potassium ion import GO:0010107 9.65 KCNE2 KCNJ2
22 regulation of cardiac muscle cell contraction GO:0086004 9.64 KCNJ2 SCN5A
23 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.64 KCNE1 KCNE2
24 atrial cardiac muscle cell action potential GO:0086014 9.63 KCNQ1 SCN5A
25 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
26 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 KCNQ1 SCN5A
27 membrane depolarization during AV node cell action potential GO:0086045 9.62 CACNA1C SCN5A
28 potassium ion export across plasma membrane GO:0097623 9.61 KCNH2 KCNQ1
29 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 CACNA1C SCN5A
30 cardiac conduction GO:0061337 9.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 membrane repolarization during action potential GO:0086011 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 transport GO:0006810 10.13 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 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)
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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