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

Sources

Aliases & Classifications for Long Qt Syndrome 13

MalaCards integrated aliases for Long Qt Syndrome 13:

Name: Long Qt Syndrome 13 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Lqt13 ⁵⁸ ¹² ⁷⁶

Qt Syndrome, Long, Type 13 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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: ³⁴

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 ⁵⁸ 613485

MeSH ⁴⁵ D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C3150733

UMLS ⁷⁴ C3150733

Sources

Summaries for Long Qt Syndrome 13

OMIM : ⁵⁸ 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 long qt syndrome 2 and long qt syndrome. An important gene associated with Long Qt Syndrome 13 is KCNJ5 (Potassium Voltage-Gated Channel Subfamily J Member 5), and among its related pathways/superpathways are Transmission across Chemical Synapses and Aldosterone synthesis and secretion. 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 : ⁷⁶ 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.

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

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

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 2	29.4	KCNH2 KCNQ1 SCN5A
2	long qt syndrome	28.8	KCNH2 KCNJ5 KCNQ1 SCN5A
3	familial short qt syndrome	9.9	KCNH2 KCNQ1
4	short qt syndrome	9.9	KCNH2 KCNQ1
5	timothy syndrome	9.8	KCNH2 KCNQ1
6	brugada syndrome 1	9.7	KCNH2 SCN5A
7	catecholaminergic polymorphic ventricular tachycardia	9.7	KCNH2 SCN5A
8	left ventricular noncompaction	9.6	KCNQ1 SCN5A
9	long qt syndrome 12	9.5	KCNH2 KCNQ1 SCN5A
10	long qt syndrome 3	9.5	KCNH2 KCNQ1 SCN5A
11	cardiac conduction defect	9.5	KCNH2 KCNQ1 SCN5A
12	syncope	9.5	KCNH2 KCNQ1 SCN5A
13	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.5	KCNH2 KCNQ1 SCN5A
14	dilated cardiomyopathy	9.5	KCNH2 KCNQ1 SCN5A
15	long qt syndrome 6	9.5	KCNH2 KCNQ1 SCN5A
16	cardiac arrhythmia	9.5	KCNH2 KCNQ1 SCN5A
17	arrhythmogenic right ventricular cardiomyopathy	9.5	KCNH2 SCN5A
18	heart conduction disease	9.5	KCNH2 KCNQ1 SCN5A
19	atrioventricular block	9.5	KCNH2 KCNQ1 SCN5A
20	intrinsic cardiomyopathy	9.5	KCNH2 KCNQ1 SCN5A
21	cardiac arrest	9.5	KCNH2 KCNQ1 SCN5A
22	familial atrial fibrillation	9.5	KCNH2 KCNQ1 SCN5A
23	atrial fibrillation	9.5	KCNH2 KCNQ1 SCN5A
24	brugada syndrome	9.4	KCNH2 KCNQ1 SCN5A
25	sudden infant death syndrome	9.4	KCNH2 KCNQ1 SCN5A
26	long qt syndrome 1	9.3	KCNH2 KCNJ5 KCNQ1 SCN5A
27	long qt syndrome 5	9.3	KCNH2 KCNJ5 KCNQ1 SCN5A
28	ventricular fibrillation, paroxysmal familial, 1	9.3	KCNH2 KCNJ5 KCNQ1 SCN5A
29	andersen cardiodysrhythmic periodic paralysis	9.3	KCNH2 KCNJ5 KCNQ1 SCN5A
30	jervell and lange-nielsen syndrome 1	9.2	KCNH2 KCNQ1 NOTCH1 SCN5A
31	heart disease	9.1	KCNH2 KCNQ1 NOTCH1 SCN5A

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:

³³ (show all 11)

#	Description	HPO Source Accession
1	hypertension ³³	HP:0000822
2	atrioventricular block ³³	HP:0001678
3	pulmonary embolism ³³	HP:0002204
4	congestive heart failure ³³	HP:0001635
5	prolonged qt interval ³³	HP:0001657
6	syncope ³³	HP:0001279
7	cardiac arrest ³³	HP:0001695
8	tachycardia ³³	HP:0001649
9	atrial fibrillation ³³	HP:0005110
10	paroxysmal atrial fibrillation ³³	HP:0004757
11	coronary artery atherosclerosis ³³	HP:0001677

Symptoms via clinical synopsis from OMIM:

⁵⁸

Cardiovascular Vascular:
hypertension
coronary artery disease

Respiratory Lung:
pulmonary embolism

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

Clinical features from OMIM:

613485

MGI Mouse Phenotypes related to Long Qt Syndrome 13:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.35	KCNH2 KCNJ5 KCNQ1 NOTCH1 SCN5A
2	muscle	MP:0005369	8.92	KCNH2 KCNQ1 NOTCH1 SCN5A

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 ³⁰	KCNJ5

Sources

Anatomical Context for Long Qt Syndrome 13

MalaCards organs/tissues related to Long Qt Syndrome 13:

⁴²

Heart

Sources

Publications for Long Qt Syndrome 13

Articles related to Long Qt Syndrome 13:

#	Title	Authors	Year
1	Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate. ( 25417227 )	Bond R...Patel A	2014
2	A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ( 24574546 )	Kokunai Y...Takahashi MP	2014
3	Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. ( 23892339 )	Patel VV	2013
4	Identification of a Kir3.4 mutation in congenital long QT syndrome. ( 20560207 )	Yang Y...Chen YH	2010

Sources

Genes for Long Qt Syndrome 13

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNJ5	Potassium Voltage-Gated Channel Subfamily J Member 5	Protein Coding	933.14	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	15.95	DISEASES inferred ¹⁵
3	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	15.7	DISEASES inferred ¹⁵
4	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	15.68	DISEASES inferred ¹⁵
5	NOTCH1	Notch Receptor 1	Protein Coding	13.64	DISEASES inferred ¹⁵

Sources

Variations for Long Qt Syndrome 13

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

⁷⁶

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

ClinVar genetic disease variations for Long Qt Syndrome 13:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNJ5	NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199830292	GRCh37	Chromosome 11, 128786525: 128786525
2	KCNJ5	NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199830292	GRCh38	Chromosome 11, 128916630: 128916630
3	KCNJ5	NM_000890.4(KCNJ5): c.864G> T (p.Glu288Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 128782032: 128782032
4	KCNJ5	NM_000890.4(KCNJ5): c.864G> T (p.Glu288Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 128912137: 128912137

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	Transmission across Chemical Synapses ⁶⁷ Show member pathways Neuronal System ⁶⁷ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁷	12.51	KCNH2 KCNJ5 KCNQ1
2	Aldosterone synthesis and secretion ³⁸ Show member pathways Adrenergic signaling in cardiomyocytes ³⁸ Ca2+ activated K+ channels ⁶⁷ Cortisol synthesis and secretion ³⁸ Cushing syndrome ³⁸ Insulin secretion ³⁸ Melanogenesis ³⁸ Thyroid hormone synthesis ³⁸	12.45	KCNJ5 KCNQ1 SCN5A
3	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.36	KCNH2 KCNQ1 SCN5A
4	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁵	11.79	KCNH2 KCNJ5 KCNQ1
5	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.54	KCNH2 KCNQ1 SCN5A
6	Phase 0 - rapid depolarisation ⁶⁷ Show member pathways Phase 2 - plateau phase ⁶⁷	11.31	KCNQ1 SCN5A
7	Potassium Channels ⁶⁷ Show member pathways HCN channels ⁶⁷ Voltage gated Potassium channels ⁶⁷	11.3	KCNH2 KCNJ5 KCNQ1
8	Cardiac Progenitor Differentiation ¹	11.09	NOTCH1 SCN5A
9	Hematopoietic Stem Cell Differentiation ¹	11	KCNH2 NOTCH1
10	Antiarrhythmic Pathway, Pharmacodynamics ⁶²	10.67	KCNH2 KCNJ5 KCNQ1 SCN5A

Sources

GO Terms for Long Qt Syndrome 13

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

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.65	KCNH2 KCNJ5 KCNQ1 NOTCH1 SCN5A
2	cell surface	GO:0009986	9.33	KCNH2 NOTCH1 SCN5A
3	T-tubule	GO:0030315	8.96	KCNJ5 SCN5A
4	voltage-gated potassium channel complex	GO:0008076	8.8	KCNH2 KCNJ5 KCNQ1

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

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.85	KCNH2 KCNJ5 KCNQ1 SCN5A
2	transmembrane transport	GO:0055085	9.77	KCNH2 KCNQ1 SCN5A
3	potassium ion transport	GO:0006813	9.69	KCNH2 KCNJ5 KCNQ1
4	potassium ion transmembrane transport	GO:0071805	9.61	KCNH2 KCNQ1
5	cellular response to drug	GO:0035690	9.59	KCNH2 KCNQ1
6	positive regulation of epithelial cell proliferation	GO:0050679	9.58	NOTCH1 SCN5A
7	membrane depolarization during action potential	GO:0086010	9.58	KCNH2 SCN5A
8	positive regulation of potassium ion transmembrane transport	GO:1901381	9.57	KCNH2 KCNQ1
9	potassium ion export across plasma membrane	GO:0097623	9.56	KCNH2 KCNQ1
10	regulation of ion transmembrane transport	GO:0034765	9.56	KCNH2 KCNJ5 KCNQ1 SCN5A
11	regulation of membrane repolarization	GO:0060306	9.54	KCNH2 KCNQ1
12	cardiac muscle contraction	GO:0060048	9.54	KCNH2 KCNQ1 SCN5A
13	membrane repolarization	GO:0086009	9.52	KCNH2 KCNQ1
14	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.5	KCNH2 KCNQ1 SCN5A
15	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.49	KCNH2 KCNQ1
16	atrial cardiac muscle cell action potential	GO:0086014	9.48	KCNQ1 SCN5A
17	membrane repolarization during action potential	GO:0086011	9.46	KCNH2 KCNQ1
18	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.43	KCNQ1 SCN5A
19	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.4	KCNJ5 KCNQ1
20	ventricular cardiac muscle cell action potential	GO:0086005	9.33	KCNH2 KCNQ1 SCN5A
21	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.13	KCNH2 KCNJ5 KCNQ1
22	regulation of heart rate by cardiac conduction	GO:0086091	8.92	KCNH2 KCNJ5 KCNQ1 SCN5A

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.49	KCNH2 SCN5A
2	ion channel binding	GO:0044325	9.48	KCNQ1 SCN5A
3	potassium channel activity	GO:0005267	9.46	KCNH2 KCNQ1
4	voltage-gated potassium channel activity	GO:0005249	9.43	KCNH2 KCNQ1
5	delayed rectifier potassium channel activity	GO:0005251	9.4	KCNH2 KCNQ1
6	inward rectifier potassium channel activity	GO:0005242	9.37	KCNH2 KCNJ5
7	scaffold protein binding	GO:0097110	9.33	KCNH2 KCNQ1 SCN5A
8	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.32	KCNH2 KCNQ1
9	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.26	KCNJ5 KCNQ1
10	voltage-gated ion channel activity	GO:0005244	9.26	KCNH2 KCNJ5 KCNQ1 SCN5A
11	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	8.8	KCNH2 KCNJ5 KCNQ1

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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

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

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

ClinVar 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