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

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Aliases & Classifications for Long Qt Syndrome 13

MalaCards integrated aliases for Long Qt Syndrome 13:

Name: Long Qt Syndrome 13 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Lqt13 ⁵⁶ ¹² ⁷³

Qt Syndrome, Long, Type 13 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

HPO:

³¹

long qt syndrome 13:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular 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:0110654

OMIM ⁵⁶ 613485

OMIM Phenotypic Series ⁵⁶ PS192500

MeSH ⁴³ D008133

ICD10 ³² I45.8

MedGen ⁴¹ C3150733

UMLS ⁷¹ C3150733

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Summaries for Long Qt Syndrome 13

OMIM : ⁵⁶ 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)

MalaCards based summary : Long Qt Syndrome 13, also known as lqt13, is related to familial long qt syndrome and long qt syndrome 2. 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 Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are hypertension and atrioventricular block

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.

UniProtKB/Swiss-Prot : ⁷³ Long QT syndrome 13: 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.

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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	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 55)

#	Related Disease	Score	Top Affiliating Genes
1	familial long qt syndrome	28.3	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2	long qt syndrome 2	25.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
3	long qt syndrome	25.5	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
4	progressive familial heart block	10.1	SCN5A KCNQ1
5	hypokalemia	10.0	KCNQ1 KCNJ5 KCNH2
6	progressive familial heart block, type ia	10.0	SCN5A ANK2
7	cardiac conduction defect	10.0	SCN5A KCNQ1 KCNH2
8	erythromelalgia	9.9	SCN5A SCN4B
9	brugada syndrome 3	9.9	KCNE2 ANK2
10	right bundle branch block	9.9	SCN5A KCNH2
11	third-degree atrioventricular block	9.9	SCN5A KCNJ2
12	familial periodic paralysis	9.8	SCN5A KCNJ2
13	hyperkalemic periodic paralysis	9.8	SCN5A KCNJ2
14	brugada syndrome 1	9.8	SCN5A KCNH2 AKAP9
15	familial short qt syndrome	9.8	KCNQ1 KCNJ2 KCNH2
16	coronary artery anomaly	9.8	SCN5A KCNJ5 KCNH2
17	supravalvular aortic stenosis	9.7	SCN5A KCNH2
18	long qt syndrome 14	9.7	KCNE1 ANK2
19	syncope	9.5	SCN5A KCNQ1 KCNJ2 KCNH2
20	brugada syndrome 4	9.5	SCN5A KCNQ1 KCNJ2 KCNH2
21	sudden infant death syndrome	9.4	SNTA1 SCN5A SCN4B KCNQ1 KCNH2
22	congestive heart failure	9.4	SCN5A KCNQ1 KCNJ2 KCNE2
23	hypokalemic periodic paralysis, type 1	9.3	SCN5A KCNJ2 KCNE1
24	sick sinus syndrome	9.3	SNTA1 SCN5A KCNJ2 ANK2
25	cardiac arrest	9.2	SCN5A KCNQ1 KCNH2 ANK2 AKAP9
26	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.2	SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
27	atrioventricular block	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
28	ventricular fibrillation, paroxysmal familial, 1	8.9	SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
29	sinoatrial node disease	8.8	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 ANK2
30	arrhythmogenic right ventricular cardiomyopathy	8.8	SCN5A KCNH2 KCNE1 ANK2 AKAP9
31	left ventricular noncompaction	8.6	SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE1
32	myasthenic syndrome, congenital, 5	8.6	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
33	wolff-parkinson-white syndrome	8.6	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
34	congenital myasthenic syndrome	8.6	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
35	heart conduction disease	8.2	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
36	long qt syndrome 10	8.1	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
37	long qt syndrome 6	8.0	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
38	atrial fibrillation	8.0	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
39	heart disease	7.9	SCN5A KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
40	cardiac arrhythmia	7.8	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
41	long qt syndrome 12	7.7	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
42	jervell and lange-nielsen syndrome 1	7.7	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
43	long qt syndrome 11	7.6	SNTA1 SCN4B KCNQ1 KCNJ5 KCNJ2 KCNE2
44	long qt syndrome 9	7.5	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNE2
45	short qt syndrome	7.4	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
46	familial atrial fibrillation	7.3	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
47	intrinsic cardiomyopathy	7.3	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
48	long qt syndrome 5	7.2	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
49	long qt syndrome 3	7.2	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
50	timothy syndrome	7.2	SNTA1 SCN5A SCN4B KCNQ1 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:

³¹ (show all 11)

#	Description	HPO Source Accession
1	hypertension ³¹	HP:0000822
2	atrioventricular block ³¹	HP:0001678
3	pulmonary embolism ³¹	HP:0002204
4	congestive heart failure ³¹	HP:0001635
5	prolonged qt interval ³¹	HP:0001657
6	syncope ³¹	HP:0001279
7	cardiac arrest ³¹	HP:0001695
8	tachycardia ³¹	HP:0001649
9	atrial fibrillation ³¹	HP:0005110
10	paroxysmal atrial fibrillation ³¹	HP:0004757
11	coronary artery atherosclerosis ³¹	HP:0001677

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Vascular:
hypertension
coronary artery disease

Respiratory Lung:
pulmonary embolism

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

Clinical features from OMIM:

613485

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Drugs & Therapeutics for Long Qt Syndrome 13

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

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Genetic Tests for Long Qt Syndrome 13

Genetic tests related to Long Qt Syndrome 13:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 13 ²⁹	KCNJ5

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Anatomical Context for Long Qt Syndrome 13

MalaCards organs/tissues related to Long Qt Syndrome 13:

⁴⁰

Heart

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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. ⁵⁶ ⁶	Kokunai Y...Takahashi MP	24574546	2014
2	Identification of a Kir3.4 mutation in congenital long QT syndrome. ⁵⁶ ⁶	Yang Y...Chen YH	20560207	2010
3	The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). ⁶¹ ⁵⁶	Wang F...Kanters JK	23872692	2013
4	Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ⁶	Priori SG...Asia Pacific Heart Rhythm Society	23994779	2013
5	Long QT Syndrome ⁶	Alders M...Christiaans I	20301308	2003
6	Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ⁵⁶	Jongbloed RJ...Smeets HJ	10220144	1999
7	Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry. ⁶¹	Steinberg C...Krahn AD	27635072	2016
8	Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate. ⁶¹	Bond R...Patel A	25417227	2014
9	Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. ⁶¹	Patel VV	23892339	2013

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Genes for Long Qt Syndrome 13

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

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	925.09	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	7.83	DISEASES inferred ¹⁵
3	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	7.72	DISEASES inferred ¹⁵
4	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	7.58	DISEASES inferred ¹⁵
5	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	7.54	DISEASES inferred ¹⁵
6	SNTA1	Syntrophin Alpha 1	Protein Coding	7.49	DISEASES inferred ¹⁵
7	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.39	DISEASES inferred ¹⁵
8	ANK2	Ankyrin 2	Protein Coding	7.27	DISEASES inferred ¹⁵
9	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	7.25	DISEASES inferred ¹⁵
10	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	7.19	DISEASES inferred ¹⁵
11	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	7.06	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 13

ClinVar genetic disease variations for Long Qt Syndrome 13:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNJ5	NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)	SNV	Conflicting interpretations of pathogenicity	8856	rs199830292	11:128786525-128786525	11:128916630-128916630
2	KCNJ5	NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp)	SNV	Conflicting interpretations of pathogenicity	560690	rs771919907	11:128782032-128782032	11:128912137-128912137

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.

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Pathways for Long Qt Syndrome 13

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

(show all 12)

#	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	12.71	KCNQ1 KCNJ5 KCNJ2 KCNH2 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	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
3	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.28	SCN5A SCN4B KCNQ1 KCNE1
4	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	12.06	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
5	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.93	SNTA1 SCN5A SCN4B KCNQ1 KCNH2
6	Salivary secretion ³⁶ Show member pathways Gastric acid secretion ³⁶	11.9	KCNQ1 KCNJ2 KCNE2
7	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.9	KCNQ1 KCNJ5 KCNJ2 KCNH2
8	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.77	SCN5A SCN4B ANK2
9	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.31	SCN5A SCN4B KCNQ1 KCNE2 KCNE1 AKAP9
10	Interaction between L1 and Ankyrins ⁶⁵	11.06	SCN5A SCN4B ANK2
11	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.02	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
12	TarBasePathway ¹	10.82	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 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.16	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
2	plasma membrane	GO:0005886	9.96	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2
3	cell surface	GO:0009986	9.78	SCN5A KCNH2 KCNE2 KCNE1
4	membrane raft	GO:0045121	9.67	KCNQ1 KCNE1 ANK2
5	lysosome	GO:0005764	9.67	KCNQ1 KCNE2 KCNE1 ANK2
6	Z disc	GO:0030018	9.58	SCN5A KCNE1 ANK2
7	sarcolemma	GO:0042383	9.5	SNTA1 SCN5A ANK2
8	intercalated disc	GO:0014704	9.46	SCN5A SCN4B KCNJ2 ANK2
9	voltage-gated sodium channel complex	GO:0001518	9.43	SCN5A SCN4B
10	T-tubule	GO:0030315	9.26	SCN5A KCNJ5 KCNJ2 ANK2
11	voltage-gated potassium channel complex	GO:0008076	9.17	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

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

(show all 36)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	10.15	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
2	potassium ion transport	GO:0006813	9.99	KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
3	potassium ion transmembrane transport	GO:0071805	9.96	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
4	regulation of ion transmembrane transport	GO:0034765	9.92	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
5	cardiac muscle contraction	GO:0060048	9.88	SCN5A SCN4B KCNQ1 KCNH2
6	potassium ion import across plasma membrane	GO:1990573	9.87	KCNJ5 KCNJ2 KCNH2 KCNE2
7	cardiac muscle cell action potential involved in contraction	GO:0086002	9.85	SCN5A SCN4B KCNJ2 KCNE2 KCNE1
8	positive regulation of potassium ion transmembrane transport	GO:1901381	9.84	KCNQ1 KCNJ2 KCNH2 KCNE1
9	cellular response to drug	GO:0035690	9.83	KCNQ1 KCNH2 KCNE2
10	potassium ion export across plasma membrane	GO:0097623	9.83	KCNQ1 KCNH2 KCNE2 KCNE1
11	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.83	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
12	cellular response to cAMP	GO:0071320	9.8	KCNQ1 KCNE1 AKAP9
13	membrane repolarization	GO:0086009	9.8	KCNQ1 KCNH2 KCNE2 KCNE1
14	regulation of membrane repolarization	GO:0060306	9.8	KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
15	ventricular cardiac muscle cell action potential	GO:0086005	9.8	SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
16	regulation of heart rate	GO:0002027	9.79	SNTA1 SCN5A ANK2
17	regulation of potassium ion transmembrane transport	GO:1901379	9.78	KCNH2 KCNE2 KCNE1
18	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.78	KCNQ1 KCNJ2 KCNH2 KCNE1
19	regulation of cardiac muscle cell contraction	GO:0086004	9.77	SCN5A KCNJ2 ANK2
20	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.77	SCN5A SCN4B KCNJ2
21	membrane repolarization during action potential	GO:0086011	9.77	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
22	atrial cardiac muscle cell action potential	GO:0086014	9.76	SCN5A KCNQ1 ANK2
23	cardiac conduction	GO:0061337	9.7	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
24	membrane depolarization during action potential	GO:0086010	9.67	SCN5A KCNH2
25	positive regulation of sodium ion transport	GO:0010765	9.67	SCN5A SCN4B
26	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.66	KCNE2 KCNE1
27	regulation of sodium ion transmembrane transport	GO:1902305	9.66	SNTA1 SCN5A
28	regulation of delayed rectifier potassium channel activity	GO:1902259	9.65	KCNE2 KCNE1
29	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.65	ANK2 AKAP9
30	SA node cell action potential	GO:0086015	9.64	SCN5A ANK2
31	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.64	SCN5A KCNQ1
32	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.63	KCNQ1 KCNJ5
33	membrane depolarization during SA node cell action potential	GO:0086046	9.63	SCN5A ANK2
34	AV node cell action potential	GO:0086016	9.62	SCN5A SCN4B
35	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.61	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
36	regulation of heart rate by cardiac conduction	GO:0086091	9.32	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.74	SNTA1 SCN5A KCNQ1
2	potassium channel activity	GO:0005267	9.73	KCNQ1 KCNH2 KCNE2 KCNE1
3	voltage-gated potassium channel activity	GO:0005249	9.71	KCNQ1 KCNH2 KCNE2 KCNE1
4	voltage-gated ion channel activity	GO:0005244	9.7	SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
5	scaffold protein binding	GO:0097110	9.67	SCN5A KCNQ1 KCNH2
6	delayed rectifier potassium channel activity	GO:0005251	9.67	KCNQ1 KCNH2 KCNE2 KCNE1
7	potassium channel regulator activity	GO:0015459	9.63	KCNE2 KCNE1 AKAP9
8	inward rectifier potassium channel activity	GO:0005242	9.62	KCNJ5 KCNJ2 KCNH2 KCNE2
9	sodium channel regulator activity	GO:0017080	9.58	SNTA1 SCN4B
10	sodium channel activity	GO:0005272	9.56	SCN5A SCN4B
11	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.56	KCNQ1 KCNJ2 KCNH2 KCNE1
12	voltage-gated sodium channel activity	GO:0005248	9.55	SCN5A SCN4B
13	protein kinase A regulatory subunit binding	GO:0034237	9.54	KCNQ1 AKAP9
14	nitric-oxide synthase binding	GO:0050998	9.52	SNTA1 SCN5A
15	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.51	SCN5A SCN4B
16	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.48	KCNQ1 KCNJ5
17	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.35	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
18	ion channel binding	GO:0044325	9.23	SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources

Sources for Long Qt Syndrome 13

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Long Qt Syndrome 13 (LQT13)

Aliases & Classifications for Long Qt Syndrome 13

MalaCards integrated aliases for Long Qt Syndrome 13:

Characteristics:

OMIM:

HPO:

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:

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

MalaCards 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