LQT11
MCID: LNG046
MIFTS: 42

Long Qt Syndrome 11 (LQT11)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 11

MalaCards integrated aliases for Long Qt Syndrome 11:

Name: Long Qt Syndrome 11 57 11 19 73 28 5 43 14 71
Lqt11 57 11 19 73
Qt Syndrome, Long, Type 11 38
Long Qt Syndrome-11 12

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 family (last curated april 2017)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110652
OMIM® 57 611820
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
MedGen 40 C2678483
SNOMED-CT via HPO 69 271594007 272030005 309585006
UMLS 71 C2678483

Summaries for Long Qt Syndrome 11

GARD: 19 Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

MalaCards based summary: Long Qt Syndrome 11, also known as lqt11, is related to familial long qt syndrome and cardiomyopathy, familial hypertrophic, 4, and has symptoms including syncope An important gene associated with Long Qt Syndrome 11 is AKAP9 (A-Kinase Anchoring Protein 9), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart, and related phenotypes are syncope and prolonged qtc interval

OMIM®: 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). (611820) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.

Related Diseases for Long Qt Syndrome 11

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 Long Qt Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 familial long qt syndrome 10.1 KCNQ1 KCNE1
2 cardiomyopathy, familial hypertrophic, 4 10.1 ANK2 AKAP9
3 cardiomyopathy, dilated, 3b 10.0 SNTA1 CAV3
4 benign familial neonatal epilepsy 10.0 KCNQ1 KCNE1
5 cardiac conduction defect 10.0 KCNQ1 CACNA1C
6 familial short qt syndrome 10.0 KCNQ1 KCNJ2
7 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 CACNA1C ANK2
8 deafness, autosomal recessive 98 9.9 KCNQ1 KCNE2 KCNE1
9 ventricular tachycardia, catecholaminergic polymorphic, 3 9.9 KCNJ2 ANK2
10 sick sinus syndrome 9.9 KCNE1 CACNA1C
11 muscular dystrophy, becker type 9.8 SNTA1 CAV3
12 brugada syndrome 3 9.8 KCNE2 CACNA1C ANK2
13 gingival fibromatosis 9.8 KCNQ1 KCNE2
14 congestive heart failure 9.7 KCNQ1 KCNJ2 KCNE2
15 long qt syndrome 15 9.7 SNTA1 SCN4B KCNJ2 AKAP9
16 brugada syndrome 4 9.7 KCNQ1 KCNJ2 CACNA1C
17 arrhythmogenic right ventricular cardiomyopathy 9.7 KCNQ1 CACNA1C ANK2
18 sudden infant death syndrome 9.7 SNTA1 SCN4B KCNQ1 CAV3
19 long qt syndrome 14 9.7 SNTA1 SCN4B KCNQ1 KCNJ2
20 cardiomyopathy, familial hypertrophic, 1 9.7 KCNQ1 CAV3 CACNA1C
21 hyperkalemic periodic paralysis 9.6 KCNJ5 KCNJ2
22 familial periodic paralysis 9.5 KCNJ5 KCNJ2 CACNA1C
23 atrioventricular block 9.4 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
24 sinoatrial node disease 9.3 KCNQ1 KCNJ2 KCNE2 CACNA1C ANK2
25 ventricular fibrillation, paroxysmal familial, 1 9.3 KCNQ1 KCNJ5 KCNE2 KCNE1 CACNA1C
26 third-degree atrioventricular block 9.1 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C ANK2
27 atrial fibrillation 9.1 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
28 lipoprotein quantitative trait locus 9.1 KCNQ1 KCNJ5 KCNJ2 KCNE2 CACNA1C
29 heart disease 8.9 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
30 long qt syndrome 6 8.8 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
31 hypokalemic periodic paralysis, type 1 8.7 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE1 CAV3
32 left ventricular noncompaction 8.7 SNTA1 KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
33 long qt syndrome 12 8.7 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
34 heart conduction disease 8.6 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
35 short qt syndrome 8.6 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
36 hypertrophic cardiomyopathy 8.6 SNTA1 KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
37 dilated cardiomyopathy 8.5 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
38 long qt syndrome 10 8.5 SNTA1 SCN4B KCNJ5 KCNJ2 KCNE2 KCNE1
39 intrinsic cardiomyopathy 8.4 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
40 long qt syndrome 5 8.4 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
41 timothy syndrome 8.4 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
42 jervell and lange-nielsen syndrome 1 8.4 SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
43 familial atrial fibrillation 8.3 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
44 long qt syndrome 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
45 long qt syndrome 1 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
46 catecholaminergic polymorphic ventricular tachycardia 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
47 brugada syndrome 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
48 long qt syndrome 2 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
49 long qt syndrome 13 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
50 long qt syndrome 9 8.0 SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 11:



Diseases related to Long Qt Syndrome 11

Symptoms & Phenotypes for Long Qt Syndrome 11

Human phenotypes related to Long Qt Syndrome 11:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 30 Very rare (1%) HP:0001279
2 prolonged qtc interval 30 Very rare (1%) HP:0005184

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
syncope
prolongation of corrected qt interval

Clinical features from OMIM®:

611820 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 11:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.7 ANK2 CACNA1C CAV3 KCNE1 KCNJ2 KCNQ1
2 homeostasis/metabolism MP:0005376 9.61 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3 cardiovascular system MP:0005385 9.17 ANK2 CACNA1C CAV3 KCNE1 KCNJ2 KCNJ5

Drugs & Therapeutics for Long Qt Syndrome 11

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 11

Cochrane evidence based reviews: long qt syndrome 11

Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 11 28 AKAP9

Anatomical Context for Long Qt Syndrome 11

Organs/tissues related to Long Qt Syndrome 11:

MalaCards : Heart

Publications for Long Qt Syndrome 11

Articles related to Long Qt Syndrome 11:

# Title Authors PMID Year
1
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 57 5
18093912 2007
2
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
3
Reprogramming of a human induced pluripotent stem cell line (ZZUSAHi004-A) from a long QT syndrome patient with a heterozygous AKAP9 (c. 4021C > A) mutant. 62
36395689 2022
4
AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature. 62
36421840 2022
5
[Analyses of triggers for recurrent cardiac events in 38 patients with symptomatic long QT syndrome]. 62
33611903 2021
6
Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey. 62
33367591 2020

Variations for Long Qt Syndrome 11

ClinVar genetic disease variations for Long Qt Syndrome 11:

5 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AKAP9 NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) SNV Pathogenic
5883 rs121908566 GRCh37: 7:91670004-91670004
GRCh38: 7:92040690-92040690
2 AKAP9 NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) SNV Likely Pathogenic
180261 rs730880043 GRCh37: 7:91630720-91630720
GRCh38: 7:92001406-92001406
3 AKAP9 NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile) SNV Uncertain Significance
931292 rs1809737574 GRCh37: 7:91690593-91690593
GRCh38: 7:92061279-92061279
4 AKAP9 NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) SNV Uncertain Significance
931764 rs763748052 GRCh37: 7:91667761-91667761
GRCh38: 7:92038447-92038447
5 AKAP9 NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) SNV Uncertain Significance
1031572 rs1816657238 GRCh37: 7:91726111-91726111
GRCh38: 7:92096797-92096797
6 AKAP9 NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile) SNV Uncertain Significance
1709096 GRCh37: 7:91659235-91659235
GRCh38: 7:92029921-92029921
7 AKAP9 NM_005751.5(AKAP9):c.6148G>T (p.Asp2050Tyr) SNV Uncertain Significance
1709631 GRCh37: 7:91694715-91694715
GRCh38: 7:92065401-92065401
8 AKAP9 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) SNV Uncertain Significance
191526 rs61757664 GRCh37: 7:91726960-91726960
GRCh38: 7:92097646-92097646
9 AKAP9 NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) SNV Uncertain Significance
190513 rs148920964 GRCh37: 7:91623968-91623968
GRCh38: 7:91994654-91994654
10 AKAP9 NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) SNV Uncertain Significance
180262 rs139965373 GRCh37: 7:91643610-91643610
GRCh38: 7:92014296-92014296
11 AKAP9 NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) SNV Uncertain Significance
417869 rs749340561 GRCh37: 7:91659249-91659249
GRCh38: 7:92029935-92029935
12 AKAP9 NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) SNV Uncertain Significance
360836 rs147841245 GRCh37: 7:91707140-91707140
GRCh38: 7:92077826-92077826
13 AKAP9 NM_005751.5(AKAP9):c.5153C>A (p.Ser1718Tyr) SNV Uncertain Significance
811703 rs1584285416 GRCh37: 7:91672076-91672076
GRCh38: 7:92042762-92042762
14 AKAP9 NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) SNV Uncertain Significance
519331 rs146022334 GRCh37: 7:91630435-91630435
GRCh38: 7:92001121-92001121
15 AKAP9 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) SNV Uncertain Significance
191519 rs73226383 GRCh37: 7:91694743-91694743
GRCh38: 7:92065429-92065429
16 AKAP9 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) SNV Uncertain Significance
191523 rs201048693 GRCh37: 7:91726036-91726036
GRCh38: 7:92096722-92096722
17 AKAP9 NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln) SNV Uncertain Significance
637986 rs373725997 GRCh37: 7:91699452-91699452
GRCh38: 7:92070138-92070138
18 AKAP9 NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) SNV Uncertain Significance
838911 rs767728528 GRCh37: 7:91652311-91652311
GRCh38: 7:92022997-92022997
19 AKAP9 NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) SNV Uncertain Significance
488172 rs776287498 GRCh37: 7:91631515-91631515
GRCh38: 7:92002201-92002201
20 AKAP9 NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp) SNV Uncertain Significance
1699378 GRCh37: 7:91730252-91730252
GRCh38: 7:92100938-92100938
21 AKAP9 NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) SNV Uncertain Significance
457096 rs1265369157 GRCh37: 7:91632349-91632349
GRCh38: 7:92003035-92003035
22 AKAP9, LOC121175350 NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) SNV Uncertain Significance
240254 rs146305558 GRCh37: 7:91671490-91671490
GRCh38: 7:92042176-92042176
23 AKAP9, LOC121175350 NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) SNV Uncertain Significance
639119 rs200044616 GRCh37: 7:91671477-91671477
GRCh38: 7:92042163-92042163
24 AKAP9 NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) SNV Uncertain Significance
417034 rs140782750 GRCh37: 7:91708613-91708613
GRCh38: 7:92079299-92079299
25 AKAP9 NM_005751.5(AKAP9):c.3113T>C (p.Val1038Ala) SNV Uncertain Significance
811185 rs1584047508 GRCh37: 7:91632344-91632344
GRCh38: 7:92003030-92003030
26 AKAP9 NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) SNV Uncertain Significance
191525 rs146495719 GRCh37: 7:91726522-91726522
GRCh38: 7:92097208-92097208
27 AKAP9 NM_005751.5(AKAP9):c.6330+3A>G SNV Likely Benign
810857 rs771419309 GRCh37: 7:91695863-91695863
GRCh38: 7:92066549-92066549
28 AKAP9 NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) SNV Likely Benign
810858 rs376528503 GRCh37: 7:91712791-91712791
GRCh38: 7:92083477-92083477
29 AKAP9 NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) SNV Likely Benign
190514 rs139046510 GRCh37: 7:91727479-91727479
GRCh38: 7:92098165-92098165
30 AKAP9 NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) SNV Likely Benign
190510 rs140470576 GRCh37: 7:91726391-91726391
GRCh38: 7:92097077-92097077
31 AKAP9 NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) SNV Likely Benign
191522 rs144875383 GRCh37: 7:91712609-91712609
GRCh38: 7:92083295-92083295
32 AKAP9 NM_005751.5(AKAP9):c.5978-4A>G SNV Likely Benign
220501 rs147494754 GRCh37: 7:91694541-91694541
GRCh38: 7:92065227-92065227
33 AKAP9 NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) SNV Likely Benign
522189 rs141094356 GRCh37: 7:91682236-91682236
GRCh38: 7:92052922-92052922
34 AKAP9 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) SNV Likely Benign
190518 rs144888041 GRCh37: 7:91622303-91622303
GRCh38: 7:91992989-91992989
35 AKAP9 NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) SNV Likely Benign
190512 rs61757663 GRCh37: 7:91726527-91726527
GRCh38: 7:92097213-92097213
36 AKAP9 NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) SNV Likely Benign
180263 rs151021935 GRCh37: 7:91682040-91682040
GRCh38: 7:92052726-92052726
37 AKAP9 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) SNV Likely Benign
191518 rs61757671 GRCh37: 7:91694604-91694604
GRCh38: 7:92065290-92065290
38 AKAP9 NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) SNV Likely Benign
197505 rs56198613 GRCh37: 7:91729054-91729054
GRCh38: 7:92099740-92099740
39 AKAP9 NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) SNV Benign/Likely Benign
136346 rs142401936 GRCh37: 7:91603056-91603056
GRCh38: 7:91973742-91973742
40 AKAP9 NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) SNV Benign/Likely Benign
136332 rs150016098 GRCh37: 7:91674405-91674405
GRCh38: 7:92045091-92045091
41 AKAP9 NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) SNV Benign/Likely Benign
215511 rs143627839 GRCh37: 7:91726470-91726470
GRCh38: 7:92097156-92097156
42 AKAP9 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) SNV Benign/Likely Benign
191520 rs76177450 GRCh37: 7:91700267-91700267
GRCh38: 7:92070953-92070953
43 AKAP9 NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) SNV Benign
136345 rs34327395 GRCh37: 7:91729127-91729127
GRCh38: 7:92099813-92099813
44 AKAP9 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) SNV Benign
191549 rs35669569 GRCh37: 7:91603115-91603115
GRCh38: 7:91973801-91973801
45 AKAP9 NM_005751.5(AKAP9):c.3952+14A>G SNV Benign
1343612 GRCh37: 7:91651680-91651680
GRCh38: 7:92022366-92022366
46 AKAP9 NM_005751.5(AKAP9):c.9358+11T>C SNV Benign
1284664 GRCh37: 7:91718854-91718854
GRCh38: 7:92089540-92089540
47 AKAP9 NM_005751.5(AKAP9):c.9729+17C>T SNV Benign
1239019 GRCh37: 7:91724504-91724504
GRCh38: 7:92095190-92095190
48 AKAP9 NM_005751.5(AKAP9):c.4148+18G>C SNV Benign
1234949 GRCh37: 7:91652341-91652341
GRCh38: 7:92023027-92023027
49 AKAP9 NM_005751.5(AKAP9):c.6508-20A>T SNV Benign
1225061 GRCh37: 7:91700199-91700199
GRCh38: 7:92070885-92070885
50 AKAP9 NM_005751.5(AKAP9):c.11098-13T>G SNV Benign
1217251 GRCh37: 7:91731895-91731895
GRCh38: 7:92102581-92102581

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 11:

73
# Symbol AA change Variation ID SNP ID
1 AKAP9 p.Ser1570Leu VAR_043489 rs121908566

Expression for Long Qt Syndrome 11

Search GEO for disease gene expression data for Long Qt Syndrome 11.

Pathways for Long Qt Syndrome 11

Pathways related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
2 11.86 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
3 11.82 SNTA1 SCN4B KCNQ1 CAV3
4
Show member pathways
11.75 KCNQ1 KCNJ5 KCNJ2
5 11.22 KCNQ1 CACNA1C
6 10.97 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
7 10.96 SCN4B CACNA1C
8 10.9 SCN4B ANK2
9 10.55 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 11

Cellular components related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 10.08 KCNQ1 KCNE2 KCNE1 ANK2
2 membrane raft GO:0045121 10.01 KCNQ1 KCNE1 CAV3 ANK2
3 Z disc GO:0030018 9.92 ANK2 CACNA1C CAV3 KCNE1
4 postsynaptic membrane GO:0045211 9.85 SNTA1 KCNJ2 CACNA1C ANK2
5 sarcolemma GO:0042383 9.8 SNTA1 CAV3 CACNA1C ANK2
6 dystrophin-associated glycoprotein complex GO:0016010 9.76 SNTA1 CAV3
7 intercalated disc GO:0014704 9.76 SCN4B KCNJ2 CAV3 ANK2
8 potassium channel complex GO:0034705 9.61 KCNQ1 AKAP9
9 T-tubule GO:0030315 9.5 KCNJ2 CAV3 CACNA1C ANK2
10 voltage-gated potassium channel complex GO:0008076 9.4 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 AKAP9

Biological processes related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.19 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
2 potassium ion import across plasma membrane GO:1990573 10.13 KCNE2 KCNJ2 KCNJ5 KCNQ1
3 cellular response to cAMP GO:0071320 10.09 AKAP9 KCNE1 KCNQ1
4 positive regulation of potassium ion transmembrane transport GO:1901381 10.07 KCNQ1 KCNJ2 KCNE1
5 potassium ion export across plasma membrane GO:0097623 10.06 KCNQ1 KCNE2 KCNE1
6 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.05 SCN4B KCNJ2 CACNA1C
7 regulation of heart rate GO:0002027 10.04 SNTA1 KCNQ1 CAV3 ANK2
8 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.03 KCNE1 KCNE2 KCNJ5 KCNQ1
9 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.02 KCNQ1 KCNJ2 KCNE1
10 potassium ion transport GO:0006813 10.02 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
11 regulation of membrane repolarization GO:0060306 10.01 KCNQ1 KCNJ2 KCNE2 AKAP9
12 monoatomic ion transport GO:0006811 10 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
13 positive regulation of microtubule polymerization GO:0031116 9.97 CAV3 AKAP9
14 regulation of cardiac muscle contraction GO:0055117 9.97 CAV3 ANK2
15 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.97 KCNE1 KCNE2 KCNQ1
16 membrane repolarization during action potential GO:0086011 9.97 KCNQ1 KCNJ2 KCNE2 KCNE1
17 regulation of monoatomic ion transmembrane transport GO:0034765 9.97 CACNA1C KCNE1 KCNE2 KCNJ2 KCNJ5 KCNQ1
18 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.96 CACNA1C ANK2
19 regulation of potassium ion transmembrane transport GO:1901379 9.96 KCNE2 KCNE1
20 regulation of sodium ion transmembrane transporter activity GO:2000649 9.96 SCN4B CAV3
21 membrane repolarization GO:0086009 9.96 KCNQ1 KCNE2 KCNE1
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.96 SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
23 positive regulation of voltage-gated calcium channel activity GO:1901387 9.95 KCNE2 KCNE1
24 regulation of cardiac muscle cell contraction GO:0086004 9.95 ANK2 KCNJ2
25 atrial cardiac muscle cell action potential GO:0086014 9.94 KCNQ1 ANK2
26 T-tubule organization GO:0033292 9.93 CAV3 ANK2
27 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.93 CAV3 AKAP9
28 ventricular cardiac muscle cell action potential GO:0086005 9.93 ANK2 CAV3 KCNE1 KCNE2 KCNQ1 SNTA1
29 regulation of delayed rectifier potassium channel activity GO:1902259 9.92 KCNE2 KCNE1
30 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.92 ANK2 AKAP9
31 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.91 KCNQ1 KCNJ5
32 regulation of heart rate by cardiac conduction GO:0086091 9.91 AKAP9 ANK2 CACNA1C KCNE1 KCNE2 KCNJ2
33 regulation of calcium ion transmembrane transporter activity GO:1901019 9.9 CAV3 ANK2
34 regulation of calcium ion transport GO:0051924 9.85 CAV3 ANK2
35 cardiac conduction GO:0061337 9.82 KCNQ1 CACNA1C
36 negative regulation of voltage-gated potassium channel activity GO:1903817 9.69 KCNQ1 KCNE2 KCNE1
37 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.53 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNQ1

Molecular functions related to Long Qt Syndrome 11 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 potassium channel regulator activity GO:0015459 9.91 AKAP9 KCNE1 KCNE2
2 voltage-gated potassium channel activity GO:0005249 9.89 KCNQ1 KCNE2 KCNE1
3 delayed rectifier potassium channel activity GO:0005251 9.88 KCNQ1 KCNE2 KCNE1
4 sodium channel regulator activity GO:0017080 9.85 SNTA1 SCN4B CAV3
5 protein kinase A regulatory subunit binding GO:0034237 9.83 KCNQ1 AKAP9
6 nitric-oxide synthase binding GO:0050998 9.81 SNTA1 CAV3
7 inward rectifier potassium channel activity GO:0005242 9.8 KCNE2 KCNJ2 KCNJ5
8 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.76 KCNQ1 KCNJ5
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.76 KCNQ1 KCNJ5 KCNE2 KCNE1
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.73 KCNQ1 KCNJ2 KCNE1
11 potassium channel activity GO:0005267 9.65 KCNQ1 KCNE2 KCNE1
12 voltage-gated monoatomic ion channel activity GO:0005244 9.56 CACNA1C KCNE1 KCNE2 KCNJ2 KCNJ5 KCNQ1
13 transmembrane transporter binding GO:0044325 9.53 SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3

Sources for Long Qt Syndrome 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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