Long Qt Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT11 MCID: LNG046 MIFTS: 39	Long Qt Syndrome 11 (LQT11) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ¹² ²⁰ ⁷² ²⁹ ⁶ ¹⁵ ⁷⁰

Lqt11 ⁵⁷ ¹² ²⁰ ⁷²

Qt Syndrome, Long, Type 11 ³⁹

Long Qt Syndrome-11 ¹³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated april 2017)

HPO:

³¹

long qt syndrome 11:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110652

OMIM® ⁵⁷ 611820

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴⁴ D008133

ICD10 ³² I45.8

MedGen ⁴¹ C2678483

SNOMED-CT via HPO ⁶⁸ 111975006 263681008 271594007 more

UMLS ⁷⁰ C2678483

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Summaries for Long Qt Syndrome 11

UniProtKB/Swiss-Prot : ⁷² Long QT syndrome 11: 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.

MalaCards based summary : Long Qt Syndrome 11, also known as lqt11, is related to deafness, autosomal recessive 98 and familial short qt syndrome, 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 Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and syncope

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.

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 05-Apr-2021)

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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 all 49)

#	Related Disease	Score	Top Affiliating Genes
1	deafness, autosomal recessive 98	9.9	KCNQ1 KCNE2 KCNE1
2	familial short qt syndrome	9.8	KCNQ1 KCNJ2
3	brugada syndrome 3	9.8	KCNE2 CACNA1C ANK2
4	cardiac conduction defect	9.8	KCNQ1 CACNA1C
5	sick sinus syndrome	9.8	SNTA1 CACNA1C ANK2
6	cardiac arrest	9.8	KCNQ1 ANK2 AKAP9
7	familial periodic paralysis	9.7	KCNJ2 CACNA1C
8	long qt syndrome 15	9.7	KCNJ2 KCNE1 CACNA1C
9	hypokalemic periodic paralysis, type 1	9.7	KCNJ2 KCNE1 CACNA1C
10	long qt syndrome 14	9.7	KCNQ1 KCNJ2 CACNA1C
11	brugada syndrome 4	9.7	KCNQ1 KCNJ2 CACNA1C
12	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.6	KCNQ1 KCNJ2 ANK2
13	atrioventricular block	9.6	KCNQ1 KCNE2 KCNE1 CACNA1C
14	arrhythmogenic right ventricular cardiomyopathy	9.5	KCNE1 CACNA1C ANK2 AKAP9
15	chromosome 2q35 duplication syndrome	9.5	KCNQ1 KCNJ2 CACNA1C
16	early infantile epileptic encephalopathy	9.5	SCN4B KCNQ1 CACNA1C
17	cardiac arrhythmia	9.4	KCNQ1 KCNE2 CACNA1C ANK2 AKAP9
18	sinoatrial node disease	9.4	KCNQ1 KCNJ2 CACNA1C ANK2
19	left ventricular noncompaction	9.3	SNTA1 KCNQ1 KCNJ2 KCNE1 CACNA1C
20	short qt syndrome	9.3	KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
21	myasthenic syndrome, congenital, 5	9.3	KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
22	ventricular fibrillation, paroxysmal familial, 1	9.2	KCNQ1 KCNJ5 KCNE2 KCNE1 CACNA1C
23	lipoprotein quantitative trait locus	9.0	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
24	sudden infant death syndrome	9.0	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
25	atrial fibrillation	9.0	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
26	familial long qt syndrome	9.0	SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
27	long qt syndrome 12	9.0	SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
28	long qt syndrome 10	8.6	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
29	heart disease	8.5	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
30	jervell and lange-nielsen syndrome 1	8.5	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
31	congenital myasthenic syndrome	8.5	SNTA1 KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
32	long qt syndrome 13	8.4	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
33	long qt syndrome 3	8.4	ANK2 AKAP9 SNTA1 SCN4B KCNQ1 KCNJ2
34	timothy syndrome	8.3	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
35	intrinsic cardiomyopathy	8.3	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
36	long qt syndrome 5	8.3	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
37	hypertrophic cardiomyopathy	8.2	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CAV3
38	familial atrial fibrillation	8.1	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
39	dilated cardiomyopathy	8.1	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
40	long qt syndrome	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
41	heart conduction disease	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
42	catecholaminergic polymorphic ventricular tachycardia	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
43	brugada syndrome	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
44	long qt syndrome 6	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
45	long qt syndrome 2	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
46	long qt syndrome 1	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
47	long qt syndrome 9	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
48	cardiac arrhythmia, ankyrin-b-related	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
49	andersen cardiodysrhythmic periodic paralysis	7.9	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2

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

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Symptoms & Phenotypes for Long Qt Syndrome 11

Human phenotypes related to Long Qt Syndrome 11:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	prolonged qt interval ³¹		HP:0001657
2	syncope ³¹		HP:0001279

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Cardiovascular Heart:
syncope
prolongation of corrected qt interval

Clinical features from OMIM®:

611820 (Updated 05-Apr-2021)

UMLS symptoms related to Long Qt Syndrome 11:

syncope

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Drugs & Therapeutics for Long Qt Syndrome 11

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

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Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 11 ²⁹	AKAP9

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Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

⁴⁰

Heart

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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. ⁶ ⁵⁷	Chen L...Kass RS	18093912	2007
2	Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ⁵⁷	Jongbloed RJ...Smeets HJ	10220144	1999
3	[Analyses of triggers for recurrent cardiac events in 38 patients with symptomatic long QT syndrome]. ⁶¹	Li K...Zhang P	33611903	2021
4	Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey. ⁶¹	Conte G...Potpara T	33367591	2020

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Genes for Long Qt Syndrome 11

Genes related to Long Qt Syndrome 11 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	1402.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18093912
2	SNTA1	Syntrophin Alpha 1	Protein Coding	8.02	DISEASES inferred ¹⁵
3	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	7.66	DISEASES inferred ¹⁵
4	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.39	DISEASES inferred ¹⁵
5	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	7.37	DISEASES inferred ¹⁵
6	CAV3	Caveolin 3	Protein Coding	7.35	DISEASES inferred ¹⁵
7	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	7.28	DISEASES inferred ¹⁵
8	ANK2	Ankyrin 2	Protein Coding	7.21	DISEASES inferred ¹⁵
9	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	7.01	DISEASES inferred ¹⁵
10	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	6.89	DISEASES inferred ¹⁵
11	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	6.75	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 11

ClinVar genetic disease variations for Long Qt Syndrome 11:

⁶ (show top 50) (show all 54)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	AKAP9	NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu)	SNV	Pathogenic	5883	rs121908566	GRCh37: 7:91670004-91670004 GRCh38: 7:92040690-92040690
2	AKAP9	NM_005751.4(AKAP9):c.1489G>T (p.Glu497Ter)	SNV	Likely pathogenic	180261	rs730880043	GRCh37: 7:91630720-91630720 GRCh38: 7:92001406-92001406
3	AKAP9	NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn)	SNV	Uncertain significance	190513	rs148920964	GRCh37: 7:91623968-91623968 GRCh38: 7:91994654-91994654
4	AKAP9	NM_005751.4(AKAP9):c.4189C>G (p.Gln1397Glu)	SNV	Uncertain significance	417869	rs749340561	GRCh37: 7:91659249-91659249 GRCh38: 7:92029935-92029935
5	AKAP9	NM_005751.4(AKAP9):c.3118A>G (p.Lys1040Glu)	SNV	Uncertain significance	457096	rs1265369157	GRCh37: 7:91632349-91632349 GRCh38: 7:92003035-92003035
6	AKAP9	NM_005751.4(AKAP9):c.5035C>T (p.Arg1679Cys)	SNV	Uncertain significance	639119	rs200044616	GRCh37: 7:91671477-91671477 GRCh38: 7:92042163-92042163
7	AKAP9	NM_005751.4(AKAP9):c.5153C>A (p.Ser1718Tyr)	SNV	Uncertain significance	811703	rs1584285416	GRCh37: 7:91672076-91672076 GRCh38: 7:92042762-92042762
8	AKAP9	NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile)	SNV	Uncertain significance	931292		GRCh37: 7:91690593-91690593 GRCh38: 7:92061279-92061279
9	AKAP9	NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp)	SNV	Uncertain significance	931764		GRCh37: 7:91667761-91667761 GRCh38: 7:92038447-92038447
10	AKAP9	NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr)	SNV	Uncertain significance	180262	rs139965373	GRCh37: 7:91643610-91643610 GRCh38: 7:92014296-92014296
11	AKAP9	NM_005751.4(AKAP9):c.7166A>G (p.Asp2389Gly)	SNV	Uncertain significance	417034	rs140782750	GRCh37: 7:91708613-91708613 GRCh38: 7:92079299-92079299
12	AKAP9	NM_005751.4(AKAP9):c.3113T>C (p.Val1038Ala)	SNV	Uncertain significance	811185	rs1584047508	GRCh37: 7:91632344-91632344 GRCh38: 7:92003030-92003030
13	AKAP9	NM_005751.4(AKAP9):c.6896A>G (p.Glu2299Gly)	SNV	Uncertain significance	360836	rs147841245	GRCh37: 7:91707140-91707140 GRCh38: 7:92077826-92077826
14	AKAP9	NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys)	SNV	Uncertain significance	191526	rs61757664	GRCh37: 7:91726960-91726960 GRCh38: 7:92097646-92097646
15	AKAP9	NM_005751.4(AKAP9):c.2284A>G (p.Lys762Glu)	SNV	Uncertain significance	488172	rs776287498	GRCh37: 7:91631515-91631515 GRCh38: 7:92002201-92002201
16	AKAP9	NM_005751.4(AKAP9):c.6439G>C (p.Glu2147Gln)	SNV	Uncertain significance	637986	rs373725997	GRCh37: 7:91699452-91699452 GRCh38: 7:92070138-92070138
17	AKAP9	NM_005751.4(AKAP9):c.1204G>A (p.Glu402Lys)	SNV	Uncertain significance	519331	rs146022334	GRCh37: 7:91630435-91630435 GRCh38: 7:92001121-92001121
18	AKAP9	NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met)	SNV	Uncertain significance	838911		GRCh37: 7:91652311-91652311 GRCh38: 7:92022997-92022997
19	AKAP9	NM_005751.4(AKAP9):c.6176A>G (p.Glu2059Gly)	SNV	Uncertain significance	191519	rs73226383	GRCh37: 7:91694743-91694743 GRCh38: 7:92065429-92065429
20	AKAP9	NM_005751.4(AKAP9):c.9763A>G (p.Arg3255Gly)	SNV	Uncertain significance	191523	rs201048693	GRCh37: 7:91726036-91726036 GRCh38: 7:92096722-92096722
21	AKAP9	NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu)	SNV	Uncertain significance	1031572		GRCh37: 7:91726111-91726111 GRCh38: 7:92096797-92096797
22	AKAP9	NM_005751.4(AKAP9):c.5048C>T (p.Thr1683Met)	SNV	Uncertain significance	240254	rs146305558	GRCh37: 7:91671490-91671490 GRCh38: 7:92042176-92042176
23	AKAP9	NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly)	SNV	Likely benign	180263	rs151021935	GRCh37: 7:91682040-91682040 GRCh38: 7:92052726-92052726
24	AKAP9	NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr)	SNV	Likely benign	136332	rs150016098	GRCh37: 7:91674405-91674405 GRCh38: 7:92045091-92045091
25	AKAP9	NM_005751.4(AKAP9):c.10197T>C (p.Thr3399=)	SNV	Likely benign	215511	rs143627839	GRCh37: 7:91726470-91726470 GRCh38: 7:92097156-92097156
26	AKAP9	NM_005751.4(AKAP9):c.10254G>C (p.Gln3418His)	SNV	Likely benign	190512	rs61757663	GRCh37: 7:91726527-91726527 GRCh38: 7:92097213-92097213
27	AKAP9	NM_005751.4(AKAP9):c.6330+3A>G	SNV	Likely benign	810857	rs771419309	GRCh37: 7:91695863-91695863 GRCh38: 7:92066549-92066549
28	AKAP9	NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro)	SNV	Likely benign	191520	rs76177450	GRCh37: 7:91700267-91700267 GRCh38: 7:92070953-92070953
29	AKAP9	NM_005751.4(AKAP9):c.8468A>G (p.Gln2823Arg)	SNV	Likely benign	810858	rs376528503	GRCh37: 7:91712791-91712791 GRCh38: 7:92083477-92083477
30	AKAP9	NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp)	SNV	Likely benign	190518	rs144888041	GRCh37: 7:91622303-91622303 GRCh38: 7:91992989-91992989
31	AKAP9	NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val)	SNV	Likely benign	190514	rs139046510	GRCh37: 7:91727479-91727479 GRCh38: 7:92098165-92098165
32	AKAP9	NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=)	SNV	Likely benign	197505	rs56198613	GRCh37: 7:91729054-91729054 GRCh38: 7:92099740-92099740
33	AKAP9	NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn)	SNV	Likely benign	191522	rs144875383	GRCh37: 7:91712609-91712609 GRCh38: 7:92083295-92083295
34	AKAP9	NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys)	SNV	Likely benign	191518	rs61757671	GRCh37: 7:91694604-91694604 GRCh38: 7:92065290-92065290
35	AKAP9	NM_005751.4(AKAP9):c.5565A>G (p.Glu1855=)	SNV	Likely benign	522189	rs141094356	GRCh37: 7:91682236-91682236 GRCh38: 7:92052922-92052922
36	AKAP9	NM_005751.4(AKAP9):c.5978-4A>G	SNV	Likely benign	220501	rs147494754	GRCh37: 7:91694541-91694541 GRCh38: 7:92065227-92065227
37	AKAP9	NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr)	SNV	Likely benign	190510	rs140470576	GRCh37: 7:91726391-91726391 GRCh38: 7:92097077-92097077
38	AKAP9	NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu)	SNV	Benign/Likely benign	136346	rs142401936	GRCh37: 7:91603056-91603056 GRCh38: 7:91973742-91973742
39	AKAP9	NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val)	SNV	Benign	136345	rs34327395	GRCh37: 7:91729127-91729127 GRCh38: 7:92099813-92099813
40	AKAP9	NM_005751.4(AKAP9):c.5163-20G>A	SNV	Benign	136331	rs9785013	GRCh37: 7:91674302-91674302 GRCh38: 7:92044988-92044988
41	AKAP9	NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)	SNV	Benign	136347	rs6964587	GRCh37: 7:91630620-91630620 GRCh38: 7:92001306-92001306
42	AKAP9	NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)	SNV	Benign	136343	rs28927678	GRCh37: 7:91715662-91715662 GRCh38: 7:92086348-92086348
43	AKAP9	NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser)	SNV	Benign	136340	rs6960867	GRCh37: 7:91712698-91712698 GRCh38: 7:92083384-92083384
44	AKAP9	NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=)	SNV	Benign	136341	rs10228334	GRCh37: 7:91713972-91713972 GRCh38: 7:92084658-92084658
45	AKAP9	NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=)	SNV	Benign	136333	rs10236397	GRCh37: 7:91691601-91691601 GRCh38: 7:92062287-92062287
46	AKAP9	NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=)	SNV	Benign	136349	rs1989779	GRCh37: 7:91632306-91632306 GRCh38: 7:92002992-92002992
47	AKAP9	NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=)	SNV	Benign	136344	rs1063243	GRCh37: 7:91726927-91726927 GRCh38: 7:92097613-92097613
48	AKAP9	NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=)	SNV	Benign	136350	rs13245393	GRCh37: 7:91641928-91641928 GRCh38: 7:92012614-92012614
49	AKAP9	NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser)	SNV	Benign	136342	rs1063242	GRCh37: 7:91714911-91714911 GRCh38: 7:92085597-92085597
50	AKAP9	NM_005751.4(AKAP9):c.6945+8C>T	SNV	Benign	136335	rs733957	GRCh37: 7:91707197-91707197 GRCh38: 7:92077883-92077883

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

⁷²

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

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Expression for Long Qt Syndrome 11

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

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Pathways for Long Qt Syndrome 11

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.65	KCNQ1 KCNJ5 KCNJ2 AKAP9
2	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.59	SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1 CAV3
3	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁴	12.43	KCNQ1 KCNJ5 KCNJ2 CACNA1C
4	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.21	SCN4B KCNQ1 KCNE1 CACNA1C
5	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.16	KCNJ5 KCNJ2 CACNA1C
6	Salivary secretion ³⁶ Show member pathways Gastric acid secretion ³⁶ Pancreatic secretion ³⁶	12.12	KCNQ1 KCNJ2 KCNE2
7	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	12.06	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 CACNA1C
8	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.88	SNTA1 SCN4B KCNQ1 CAV3
9	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.78	KCNQ1 KCNJ5 KCNJ2
10	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.31	SCN4B KCNQ1 KCNE2 KCNE1 CACNA1C AKAP9
11	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.97	SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
12	Interaction between L1 and Ankyrins ⁶⁵	10.95	SCN4B ANK2
13	TarBasePathway ¹	10.78	KCNQ1 KCNJ2 KCNE1

Sources

GO Terms for Long Qt Syndrome 11

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.19	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
2	plasma membrane	GO:0005886	10.07	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
3	lysosome	GO:0005764	9.76	KCNQ1 KCNE2 KCNE1 ANK2
4	membrane raft	GO:0045121	9.71	KCNQ1 KCNE1 CAV3 ANK2
5	postsynaptic membrane	GO:0045211	9.65	SNTA1 CACNA1C ANK2
6	Z disc	GO:0030018	9.62	KCNE1 CAV3 CACNA1C ANK2
7	sarcolemma	GO:0042383	9.56	SNTA1 CAV3 CACNA1C ANK2
8	intercalated disc	GO:0014704	9.46	SCN4B KCNJ2 CAV3 ANK2
9	dystrophin-associated glycoprotein complex	GO:0016010	9.43	SNTA1 CAV3
10	T-tubule	GO:0030315	9.35	KCNJ5 KCNJ2 CAV3 CACNA1C ANK2
11	voltage-gated potassium channel complex	GO:0008076	9.1	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1 AKAP9

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

(show all 38)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	10.04	SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
2	potassium ion transport	GO:0006813	9.91	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
3	regulation of ion transmembrane transport	GO:0034765	9.91	SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
4	potassium ion transmembrane transport	GO:0071805	9.88	KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
5	cellular response to cAMP	GO:0071320	9.78	KCNQ1 KCNE1 AKAP9
6	potassium ion import across plasma membrane	GO:1990573	9.77	KCNJ5 KCNJ2 KCNE2
7	regulation of heart rate	GO:0002027	9.77	SNTA1 CAV3 ANK2
8	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.76	KCNQ1 KCNJ5 KCNE2 KCNE1
9	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.75	KCNQ1 KCNE2 KCNE1
10	potassium ion export across plasma membrane	GO:0097623	9.74	KCNQ1 KCNE2 KCNE1
11	positive regulation of potassium ion transmembrane transport	GO:1901381	9.73	KCNQ1 KCNJ2 KCNE1
12	regulation of membrane repolarization	GO:0060306	9.73	KCNQ1 KCNJ2 KCNE2 AKAP9
13	cardiac conduction	GO:0061337	9.73	KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C AKAP9
14	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.72	SCN4B KCNJ2 CACNA1C
15	cardiac muscle cell action potential involved in contraction	GO:0086002	9.72	SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
16	membrane repolarization	GO:0086009	9.71	KCNQ1 KCNE2 KCNE1
17	membrane repolarization during action potential	GO:0086011	9.71	KCNQ1 KCNJ2 KCNE2 KCNE1
18	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.7	KCNQ1 KCNJ2 KCNE1
19	cardiac muscle contraction	GO:0060048	9.68	SCN4B KCNQ1
20	regulation of heart contraction	GO:0008016	9.67	KCNQ1 CAV3
21	regulation of calcium ion transport	GO:0051924	9.67	CAV3 ANK2
22	positive regulation of microtubule polymerization	GO:0031116	9.67	CAV3 AKAP9
23	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.66	CACNA1C ANK2
24	regulation of cardiac muscle contraction	GO:0055117	9.66	CAV3 ANK2
25	regulation of sodium ion transmembrane transporter activity	GO:2000649	9.65	SCN4B CAV3
26	regulation of potassium ion transmembrane transport	GO:1901379	9.65	KCNE2 KCNE1
27	regulation of cardiac muscle cell contraction	GO:0086004	9.65	KCNJ2 ANK2
28	atrial cardiac muscle cell action potential	GO:0086014	9.64	KCNQ1 ANK2
29	T-tubule organization	GO:0033292	9.64	CAV3 ANK2
30	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.63	CAV3 AKAP9
31	regulation of delayed rectifier potassium channel activity	GO:1902259	9.63	KCNE2 KCNE1
32	ventricular cardiac muscle cell action potential	GO:0086005	9.63	SNTA1 KCNQ1 KCNE2 KCNE1 CAV3 ANK2
33	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.62	KCNQ1 KCNE2
34	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.62	ANK2 AKAP9
35	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.61	KCNQ1 KCNJ5
36	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.58	CAV3 ANK2
37	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.56	SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
38	regulation of heart rate by cardiac conduction	GO:0086091	9.28	SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.71	SNTA1 KCNQ1 CACNA1C
2	potassium channel activity	GO:0005267	9.67	KCNQ1 KCNE2 KCNE1
3	voltage-gated potassium channel activity	GO:0005249	9.65	KCNQ1 KCNE2 KCNE1
4	potassium channel regulator activity	GO:0015459	9.61	KCNE2 KCNE1 AKAP9
5	sodium channel regulator activity	GO:0017080	9.58	SNTA1 SCN4B CAV3
6	delayed rectifier potassium channel activity	GO:0005251	9.54	KCNQ1 KCNE2 KCNE1
7	protein kinase A regulatory subunit binding	GO:0034237	9.52	KCNQ1 AKAP9
8	nitric-oxide synthase binding	GO:0050998	9.51	SNTA1 CAV3
9	inward rectifier potassium channel activity	GO:0005242	9.5	KCNJ5 KCNJ2 KCNE2
10	voltage-gated ion channel activity	GO:0005244	9.5	SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2 KCNE1
11	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.46	KCNQ1 KCNJ5
12	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.46	KCNQ1 KCNJ5 KCNE2 KCNE1
13	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.43	KCNQ1 KCNJ2 KCNE1
14	ion channel binding	GO:0044325	9.23	SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3

Sources

Sources for Long Qt Syndrome 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Long Qt Syndrome 11 (LQT11)

Aliases & Classifications for Long Qt Syndrome 11

MalaCards integrated aliases for Long Qt Syndrome 11:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 11

Related Diseases for Long Qt Syndrome 11

Diseases in the Long Qt Syndrome family:

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

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

Symptoms & Phenotypes for Long Qt Syndrome 11

Human phenotypes related to Long Qt Syndrome 11:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Long Qt Syndrome 11:

Drugs & Therapeutics for Long Qt Syndrome 11

Genetic Tests for Long Qt Syndrome 11

Genetic tests related to Long Qt Syndrome 11:

Anatomical Context for Long Qt Syndrome 11

MalaCards organs/tissues related to Long Qt Syndrome 11:

Publications for Long Qt Syndrome 11

Articles related to Long Qt Syndrome 11:

Genes for Long Qt Syndrome 11

Genes related to Long Qt Syndrome 11 (1 elite genes):

Variations for Long Qt Syndrome 11

ClinVar genetic disease variations for Long Qt Syndrome 11:

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

Expression for Long Qt Syndrome 11

Pathways for Long Qt Syndrome 11

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

GO Terms for Long Qt Syndrome 11

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

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

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

Sources for Long Qt Syndrome 11