Long Qt Syndrome 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613485) (Updated 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 13, also known as lqt13, is related to familial long qt syndrome and long qt syndrome. An important gene associated with Long Qt Syndrome 13 is KCNJ5 (Potassium Inwardly Rectifying Channel Subfamily J Member 5), and among its related pathways/superpathways are Cardiac conduction and G-Beta Gamma Signaling. Affiliated tissues include heart, heart-atrium and heart-ventricle, and related phenotypes are congestive heart failure and atrioventricular block

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 KCNJ5 gene on chromosome 11q24.3.

Sources

Related Diseases for Long Qt Syndrome 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)

#	Related Disease	Score	Top Affiliating Genes
1	familial long qt syndrome	29.8	SCN5A KCNQ1 KCNH2 KCNE1
2	long qt syndrome	26.5	SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNJ5
3	long qt syndrome 2	26.4	SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNJ5
4	second-degree atrioventricular block	10.2	SCN5A KCNH2
5	progressive familial heart block	10.2	SCN5A KCNQ1
6	diamond-blackfan anemia 3	10.1	SCN5A KCNH2
7	trichothiodystrophy 7, nonphotosensitive	10.1	SCN5A KCNH2
8	syncope	10.1	SCN5A KCNQ1 KCNH2
9	developmental and epileptic encephalopathy 14	10.1	SCN5A KCNQ1 KCNH2
10	familial short qt syndrome	10.1	KCNQ1 KCNJ2 KCNH2
11	hypokalemia	10.1	KCNQ1 KCNJ5 KCNH2
12	noonan syndrome with multiple lentigines	10.1	SCN5A KCNQ1 KCNH2
13	wolff-parkinson-white syndrome	10.1	SCN5A KCNQ1 KCNH2
14	first-degree atrioventricular block	10.1	SCN5A KCNJ2 KCNH2
15	progressive familial heart block, type ia	10.1	SCN5A ANK2
16	hyperkalemic periodic paralysis	10.1	SCN5A KCNJ5 KCNJ2
17	cardiac arrest	10.0	SCN5A KCNQ1 KCNH2
18	brugada syndrome 1	10.0	SCN5A KCNH2
19	ventricular tachycardia, catecholaminergic polymorphic, 3	10.0	KCNJ2 ANK2
20	deafness, autosomal recessive 98	10.0	KCNQ1 KCNE2 KCNE1
21	generalized epilepsy with febrile seizures plus	9.9	SCN5A SCN4B ANK2
22	congestive heart failure	9.9	SCN5A KCNQ1 KCNJ2 KCNE2
23	cardiomyopathy, familial hypertrophic, 4	9.9	ANK2 AKAP9
24	paramyotonia congenita of von eulenburg	9.8	SCN5A KCNJ2
25	cardiomyopathy, dilated, 3b	9.8	SNTA1 CAV3
26	cardiac conduction defect	9.8	SCN5A KCNQ1 CACNA1C
27	right bundle branch block	9.8	SCN5A KCNH2 CACNA1C
28	sick sinus syndrome	9.7	SCN5A KCNE1 CACNA1C
29	brugada syndrome 3	9.7	KCNE2 CACNA1C ANK2
30	familial periodic paralysis	9.7	SCN5A KCNJ5 KCNJ2 CACNA1C
31	rasopathy	9.7	SCN5A KCNQ1 KCNH2 CACNA1C
32	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.6	CACNA1C ANK2
33	long qt syndrome 15	9.6	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
34	long qt syndrome 14	9.6	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
35	isolated elevated serum creatine phosphokinase levels	9.6	SCN5A CAV3 CACNA1C
36	malignant hyperthermia	9.6	SCN5A CAV3 CACNA1C
37	brugada syndrome 4	9.5	SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
38	arrhythmogenic right ventricular cardiomyopathy	9.5	SCN5A KCNQ1 KCNH2 CACNA1C ANK2
39	cardiomyopathy, familial hypertrophic, 1	9.4	SCN5A KCNQ1 KCNH2 CAV3 CACNA1C
40	ventricular fibrillation, paroxysmal familial, 1	9.2	SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
41	lipoprotein quantitative trait locus	9.2	SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
42	sudden infant death syndrome	9.2	SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNH2
43	atrioventricular block	9.2	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44	sinoatrial node disease	9.2	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
45	atrial fibrillation	9.0	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
46	heart disease	9.0	SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
47	third-degree atrioventricular block	9.0	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
48	hypokalemic periodic paralysis, type 1	8.9	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE1
49	long qt syndrome 6	8.7	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
50	heart conduction disease	8.7	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 13:

Sources

Symptoms & Phenotypes for Long Qt Syndrome 13

Human phenotypes related to Long Qt Syndrome 13:

³⁰ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	congestive heart failure ³⁰	Very rare (1%)	HP:0001635
2	atrioventricular block ³⁰	Very rare (1%)	HP:0001678
3	pulmonary embolism ³⁰	Very rare (1%)	HP:0002204
4	syncope ³⁰	Very rare (1%)	HP:0001279
5	palpitations ³⁰	Very rare (1%)	HP:0001962
6	prolonged qtc interval ³⁰	Very rare (1%)	HP:0005184
7	torsade de pointes ³⁰	Very rare (1%)	HP:0001664
8	permanent atrial fibrillation ³⁰	Very rare (1%)	HP:0004754
9	cardiac arrest ³⁰		HP:0001695

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Vascular:
hypertension
coronary artery disease

Respiratory Lung:
pulmonary embolism

Cardiovascular Heart:
atrioventricular block
paroxysmal atrial fibrillation
cardiac arrest
heart failure
syncopal episodes, related to emotional or physical stress
more

Clinical features from OMIM®:

613485 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Long Qt Syndrome 13:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.96	ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2
2	homeostasis/metabolism	MP:0005376	9.9	AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3	growth/size/body region	MP:0005378	9.65	AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
4	cardiovascular system	MP:0005385	9.32	ANK2 CACNA1C CAV3 KCNE1 KCNH2 KCNJ2

Sources

Drugs & Therapeutics for Long Qt Syndrome 13

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 13

Sources

Genetic Tests for Long Qt Syndrome 13

Genetic tests related to Long Qt Syndrome 13:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 13 ²⁸	KCNJ5

Sources

Anatomical Context for Long Qt Syndrome 13

Organs/tissues related to Long Qt Syndrome 13:

MalaCards : Heart

ODiseA: Heart-Atrium, Heart-Ventricle, Heart

Sources

Publications for Long Qt Syndrome 13

Articles related to Long Qt Syndrome 13:

#	Title	Authors	PMID	Year
1	A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ⁵⁷ ⁵	Kokunai Y...Takahashi MP	24574546	2014
2	Identification of a Kir3.4 mutation in congenital long QT syndrome. ⁵⁷ ⁵	Yang Y...Chen YH	20560207	2010
3	The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). ⁶² ⁵⁷	Wang F...Kanters JK	23872692	2013
4	Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ⁵⁷	Jongbloed RJ...Smeets HJ	10220144	1999
5	Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry. ⁶²	Steinberg C...Krahn AD	27635072	2016
6	Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate. ⁶²	Bond R...Patel A	25417227	2014
7	Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. ⁶²	Patel VV	23892339	2013

Sources

Genes for Long Qt Syndrome 13

Genes related to Long Qt Syndrome 13 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	940.44	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	20560207 24574546
2	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	7.59	DISEASES inferred ¹⁴
3	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	7.48	DISEASES inferred ¹⁴
4	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	7.4	DISEASES inferred ¹⁴
5	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	7.33	DISEASES inferred ¹⁴
6	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.24	DISEASES inferred ¹⁴
7	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	7.21	DISEASES inferred ¹⁴
8	SNTA1	Syntrophin Alpha 1	Protein Coding	7.2	DISEASES inferred ¹⁴
9	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	7.05	DISEASES inferred ¹⁴
10	ANK2	Ankyrin 2	Protein Coding	6.95	DISEASES inferred ¹⁴
11	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	6.81	DISEASES inferred ¹⁴
12	CAV3	Caveolin 3	Protein Coding	6.58	DISEASES inferred ¹⁴
13	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	6.56	DISEASES inferred ¹⁴
14	NOS1AP	Nitric Oxide Synthase 1 Adaptor Protein	Protein Coding	6.2	DISEASES inferred ¹⁴

Sources

Variations for Long Qt Syndrome 13

ClinVar genetic disease variations for Long Qt Syndrome 13:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCNJ5	NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)	SNV	Likely Pathogenic	8856	rs199830292	GRCh37: 11:128786525-128786525 GRCh38: 11:128916630-128916630
2	KCNJ5	NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg)	SNV	Uncertain Significance	869438	rs148307402	GRCh37: 11:128786517-128786517 GRCh38: 11:128916622-128916622
3	KCNJ5	NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp)	SNV	Uncertain Significance	560690	rs771919907	GRCh37: 11:128782032-128782032 GRCh38: 11:128912137-128912137
4	KCNJ5	NM_000890.5(KCNJ5):c.938-10G>A	SNV	Benign	137995	rs4937391	GRCh37: 11:128786294-128786294 GRCh38: 11:128916399-128916399
5	KCNJ5	NM_000890.5(KCNJ5):c.171T>C (p.Ser57=)	SNV	Benign	137990	rs6590357	GRCh37: 11:128781339-128781339 GRCh38: 11:128911444-128911444
6	KCNJ5	NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)	SNV	Benign	137991	rs7118824	GRCh37: 11:128781978-128781978 GRCh38: 11:128912083-128912083
7	KCNJ5	NM_000890.5(KCNJ5):c.834T>C (p.His278=)	SNV	Benign	137992	rs7118833	GRCh37: 11:128782002-128782002 GRCh38: 11:128912107-128912107
8	KCNJ5	NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu)	SNV	Benign	137993	rs7102584	GRCh37: 11:128782012-128782012 GRCh38: 11:128912117-128912117

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 13:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	KCNJ5	p.Gly387Arg	VAR_063766	rs199830292

Sources

Expression for Long Qt Syndrome 13

Search GEO for disease gene expression data for Long Qt Syndrome 13.

Sources

Pathways for Long Qt Syndrome 13

Pathways related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.39	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.34	SCN5A SCN4B KCNJ5 CACNA1C
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.12	AKAP9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
4	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	12	SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNH2
5	Potassium Channels ⁶⁶ Show member pathways Ca2+ activated K+ channels ⁶⁶ HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.94	KCNQ1 KCNJ5 KCNJ2 KCNH2
6	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.93	SCN5A SCN4B ANK2
7	Phase 0 - rapid depolarisation ⁶⁶	11.11	SCN5A SCN4B CACNA1C
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.06	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
9	Interaction between L1 and Ankyrins ⁶⁶	11.04	SCN5A SCN4B ANK2
10	Genes targeted by miRNAs in adipocytes ⁷⁴	10.61	KCNQ1 KCNJ2 KCNE1

Sources

GO Terms for Long Qt Syndrome 13

Cellular components related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	10.15	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
2	membrane raft	GO:0045121	10.1	KCNQ1 KCNE1 CAV3 ANK2
3	Z disc	GO:0030018	10.1	ANK2 CACNA1C CAV3 KCNE1 NOS1AP SCN5A
4	intercalated disc	GO:0014704	9.96	SCN5A SCN4B KCNJ2 CAV3 ANK2
5	caveola	GO:0005901	9.95	SCN5A NOS1AP CAV3
6	sarcolemma	GO:0042383	9.9	ANK2 CACNA1C CAV3 NOS1AP SCN5A SNTA1
7	postsynaptic membrane	GO:0045211	9.88	SNTA1 KCNJ2 CACNA1C ANK2
8	voltage-gated sodium channel complex	GO:0001518	9.83	SCN5A SCN4B
9	lateral plasma membrane	GO:0016328	9.83	KCNQ1 SCN5A SNTA1
10	dystrophin-associated glycoprotein complex	GO:0016010	9.81	SNTA1 CAV3
11	T-tubule	GO:0030315	9.7	SCN5A NOS1AP KCNJ2 CAV3 CACNA1C ANK2
12	potassium channel complex	GO:0034705	9.63	KCNQ1 AKAP9
13	voltage-gated potassium channel complex	GO:0008076	9.47	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

Biological processes related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

(show all 48)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.32	KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
2	potassium ion import across plasma membrane	GO:1990573	10.25	KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
3	regulation of heart rate by cardiac conduction	GO:0086091	10.2	KCNE1 CACNA1C ANK2 AKAP9 KCNE2 KCNH2
4	cardiac muscle contraction	GO:0060048	10.19	SCN5A SCN4B KCNQ1 KCNH2
5	potassium ion export across plasma membrane	GO:0097623	10.17	KCNQ1 KCNH2 KCNE2 KCNE1
6	cellular response to xenobiotic stimulus	GO:0071466	10.16	KCNE2 KCNH2 KCNQ1
7	membrane depolarization during cardiac muscle cell action potential	GO:0086012	10.16	SCN5A SCN4B KCNJ2 CACNA1C
8	positive regulation of potassium ion transmembrane transport	GO:1901381	10.16	NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE1
9	regulation of heart rate	GO:0002027	10.15	SNTA1 SCN5A KCNQ1 CAV3 ANK2
10	cellular response to cAMP	GO:0071320	10.14	KCNQ1 KCNE1 AKAP9
11	potassium ion transport	GO:0006813	10.14	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
12	monoatomic ion transport	GO:0006811	10.13	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
13	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	10.13	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
14	membrane repolarization during cardiac muscle cell action potential	GO:0086013	10.11	KCNE1 KCNH2 KCNJ2 KCNQ1
15	sodium ion transport	GO:0006814	10.1	SCN5A SCN4B KCNQ1
16	regulation of potassium ion transmembrane transport	GO:1901379	10.1	KCNE1 KCNE2 KCNH2
17	regulation of membrane repolarization	GO:0060306	10.1	KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
18	cardiac muscle cell action potential involved in contraction	GO:0086002	10.1	SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
19	regulation of cardiac muscle cell contraction	GO:0086004	10.09	SCN5A KCNJ2 ANK2
20	atrial cardiac muscle cell action potential	GO:0086014	10.08	ANK2 KCNQ1 SCN5A
21	membrane repolarization	GO:0086009	10.07	KCNQ1 KCNH2 KCNE2 KCNE1
22	membrane repolarization during action potential	GO:0086011	10.07	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23	monoatomic ion transmembrane transport	GO:0034220	10.02	SCN5A KCNQ1 KCNJ5 KCNH2 CACNA1C
24	regulation of sodium ion transmembrane transporter activity	GO:2000649	10	SCN4B CAV3
25	membrane depolarization during action potential	GO:0086010	10	SCN5A KCNH2
26	positive regulation of sodium ion transport	GO:0010765	10	SCN5A SCN4B
27	negative regulation of delayed rectifier potassium channel activity	GO:1902260	10	KCNQ1 KCNE2 KCNE1
28	regulation of monoatomic ion transmembrane transport	GO:0034765	10	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
29	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	10	SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNH2
30	positive regulation of voltage-gated calcium channel activity	GO:1901387	9.99	KCNE2 KCNE1
31	negative regulation of potassium ion transmembrane transport	GO:1901380	9.99	KCNH2 CAV3
32	regulation of sodium ion transmembrane transport	GO:1902305	9.99	SNTA1 SCN5A
33	T-tubule organization	GO:0033292	9.98	CAV3 ANK2
34	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.98	CAV3 AKAP9
35	regulation of delayed rectifier potassium channel activity	GO:1902259	9.97	KCNE2 KCNE1
36	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.97	ANK2 AKAP9
37	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.96	SCN5A CAV3
38	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.96	SCN5A KCNQ1
39	membrane depolarization during AV node cell action potential	GO:0086045	9.96	SCN5A CACNA1C
40	SA node cell action potential	GO:0086015	9.95	ANK2 SCN5A
41	membrane depolarization during SA node cell action potential	GO:0086046	9.95	ANK2 SCN5A
42	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.94	KCNJ5 KCNQ1
43	AV node cell action potential	GO:0086016	9.94	SCN5A SCN4B
44	membrane depolarization during atrial cardiac muscle cell action potential	GO:0098912	9.93	SCN5A CACNA1C
45	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.93	CAV3 ANK2
46	cardiac conduction	GO:0061337	9.86	KCNQ1 CACNA1C
47	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.76	KCNQ1 KCNE2 KCNE1
48	ventricular cardiac muscle cell action potential	GO:0086005	9.53	ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

Molecular functions related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	10.15	SNTA1 SCN5A KCNQ1 CACNA1C
2	scaffold protein binding	GO:0097110	10.03	SCN5A KCNQ1 KCNH2
3	delayed rectifier potassium channel activity	GO:0005251	10.01	KCNQ1 KCNH2 KCNE2 KCNE1
4	potassium channel regulator activity	GO:0015459	10	KCNE2 KCNE1 AKAP9
5	voltage-gated potassium channel activity	GO:0005249	10	KCNQ1 KCNH2 KCNE2 KCNE1
6	sodium channel regulator activity	GO:0017080	9.97	CAV3 SCN4B SNTA1
7	inward rectifier potassium channel activity	GO:0005242	9.97	KCNE2 KCNH2 KCNJ2 KCNJ5
8	nitric-oxide synthase binding	GO:0050998	9.92	SNTA1 SCN5A NOS1AP CAV3
9	transmembrane transporter binding	GO:0044325	9.91	SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
10	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.86	KCNQ1 KCNJ2 KCNH2 KCNE1
11	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.85	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
12	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.84	SCN5A SCN4B
13	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.81	KCNQ1 KCNJ5
14	monoatomic ion channel activity	GO:0005216	9.78	SCN5A KCNQ1 KCNH2 CACNA1C
15	potassium channel activity	GO:0005267	9.73	KCNQ1 KCNH2 KCNE2 KCNE1
16	voltage-gated monoatomic ion channel activity	GO:0005244	9.36	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2

Sources

Sources for Long Qt Syndrome 13

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LQT13 MCID: LNG057 MIFTS: 42	Long Qt Syndrome 13 (LQT13) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Long Qt Syndrome 13 (LQT13)

Aliases & Classifications for Long Qt Syndrome 13

MalaCards integrated aliases for Long Qt Syndrome 13:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 13

Related Diseases for Long Qt Syndrome 13

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 13:

Symptoms & Phenotypes for Long Qt Syndrome 13

Human phenotypes related to Long Qt Syndrome 13:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Long Qt Syndrome 13:

Drugs & Therapeutics for Long Qt Syndrome 13

Genetic Tests for Long Qt Syndrome 13

Genetic tests related to Long Qt Syndrome 13:

Anatomical Context for Long Qt Syndrome 13

Organs/tissues related to Long Qt Syndrome 13:

Publications for Long Qt Syndrome 13

Articles related to Long Qt Syndrome 13:

Genes for Long Qt Syndrome 13

Genes related to Long Qt Syndrome 13 (1 elite genes):

Variations for Long Qt Syndrome 13

ClinVar genetic disease variations for Long Qt Syndrome 13:

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 13:

Expression for Long Qt Syndrome 13

Pathways for Long Qt Syndrome 13

Pathways related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 13

Cellular components related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 13