LQT13
MCID: LNG057
MIFTS: 39

Long Qt Syndrome 13 (LQT13)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

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:



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.

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:



Diseases related to Long Qt Syndrome 13

Symptoms & Phenotypes for Long Qt Syndrome 13

Human phenotypes related to Long Qt Syndrome 13:

31 (show all 11)
# Description HPO Frequency 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

Drugs & Therapeutics for Long Qt Syndrome 13

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

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

Anatomical Context for Long Qt Syndrome 13

MalaCards organs/tissues related to Long Qt Syndrome 13:

40
Heart

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
24574546 2014
2
Identification of a Kir3.4 mutation in congenital long QT syndrome. 56 6
20560207 2010
3
The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). 61 56
23872692 2013
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
5
Long QT Syndrome 6
20301308 2003
6
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 56
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
27635072 2016
8
Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate. 61
25417227 2014
9
Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. 61
23892339 2013

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

Expression for Long Qt Syndrome 13

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

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
Show member pathways
12.71 KCNQ1 KCNJ5 KCNJ2 KCNH2 AKAP9
2
Show member pathways
12.59 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
3
Show member pathways
12.28 SCN5A SCN4B KCNQ1 KCNE1
4 12.06 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
5 11.93 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
6
Show member pathways
11.9 KCNQ1 KCNJ2 KCNE2
7
Show member pathways
11.9 KCNQ1 KCNJ5 KCNJ2 KCNH2
8
Show member pathways
11.77 SCN5A SCN4B ANK2
9
Show member pathways
11.31 SCN5A SCN4B KCNQ1 KCNE2 KCNE1 AKAP9
10 11.06 SCN5A SCN4B ANK2
11 11.02 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
12 10.82 KCNQ1 KCNJ2 KCNE1

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 for Long Qt Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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