LQT13
MCID: LNG057
MIFTS: 37

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 57 12 74 29 13 6 15 72
Lqt13 57 12 74
Qt Syndrome, Long, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110654
MeSH 44 D008133
ICD10 33 I45.8
MedGen 42 C3150733
UMLS 72 C3150733

Summaries for Long Qt Syndrome 13

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)

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 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 : 74 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 all 32)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 29.1 SCN5A KCNQ1 KCNH2
2 long qt syndrome 28.1 SCN5A KCNQ1 KCNJ5 KCNH2
3 familial long qt syndrome 10.2
4 brugada syndrome 1 9.8 SCN5A KCNH2
5 catecholaminergic polymorphic ventricular tachycardia 9.7 SCN5A KCNH2
6 familial short qt syndrome 9.6 KCNQ1 KCNH2
7 short qt syndrome 9.5 KCNQ1 KCNH2
8 timothy syndrome 9.5 KCNQ1 KCNH2
9 arrhythmogenic right ventricular cardiomyopathy 9.4 SCN5A KCNH2
10 left ventricular noncompaction 9.4 SCN5A KCNQ1
11 long qt syndrome 12 9.2 SCN5A KCNQ1 KCNH2
12 long qt syndrome 3 9.2 SCN5A KCNQ1 KCNH2
13 cardiac conduction defect 9.2 SCN5A KCNQ1 KCNH2
14 syncope 9.2 SCN5A KCNQ1 KCNH2
15 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.2 SCN5A KCNQ1 KCNH2
16 dilated cardiomyopathy 9.2 SCN5A KCNQ1 KCNH2
17 jervell and lange-nielsen syndrome 1 9.2 SCN5A KCNQ1 KCNH2
18 long qt syndrome 6 9.2 SCN5A KCNQ1 KCNH2
19 cardiac arrhythmia 9.2 SCN5A KCNQ1 KCNH2
20 heart conduction disease 9.2 SCN5A KCNQ1 KCNH2
21 intrinsic cardiomyopathy 9.2 SCN5A KCNQ1 KCNH2
22 atrioventricular block 9.2 SCN5A KCNQ1 KCNH2
23 cardiac arrest 9.1 SCN5A KCNQ1 KCNH2
24 familial atrial fibrillation 9.1 SCN5A KCNQ1 KCNH2
25 atrial fibrillation 9.1 SCN5A KCNQ1 KCNH2
26 brugada syndrome 9.1 SCN5A KCNQ1 KCNH2
27 sudden infant death syndrome 9.1 SCN5A KCNQ1 KCNH2
28 heart disease 8.9 SCN5A KCNQ1 KCNH2
29 long qt syndrome 1 8.8 SCN5A KCNQ1 KCNJ5 KCNH2
30 long qt syndrome 5 8.8 SCN5A KCNQ1 KCNJ5 KCNH2
31 ventricular fibrillation, paroxysmal familial, 1 8.8 SCN5A KCNQ1 KCNJ5 KCNH2
32 andersen cardiodysrhythmic periodic paralysis 8.8 SCN5A KCNQ1 KCNJ5 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 atrioventricular block 32 HP:0001678
3 pulmonary embolism 32 HP:0002204
4 congestive heart failure 32 HP:0001635
5 prolonged qt interval 32 HP:0001657
6 syncope 32 HP:0001279
7 cardiac arrest 32 HP:0001695
8 tachycardia 32 HP:0001649
9 atrial fibrillation 32 HP:0005110
10 paroxysmal atrial fibrillation 32 HP:0004757
11 coronary artery atherosclerosis 32 HP:0001677

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Long Qt Syndrome 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.92 KCNH2 KCNJ5 KCNQ1 SCN5A

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:

41
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. 8 71
24574546 2014
2
Identification of a Kir3.4 mutation in congenital long QT syndrome. 8 71
20560207 2010
3
The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). 38 8
23872692 2013
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
5
Long QT Syndrome 71
20301308 2003
6
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 8
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. 38
27635072 2016
8
Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate. 38
25417227 2014
9
Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. 38
23892339 2013

Variations for Long Qt Syndrome 13

ClinVar genetic disease variations for Long Qt Syndrome 13:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ5 NM_000890.5(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 11:128786525-128786525 11:128916630-128916630
2 KCNJ5 NM_000890.5(KCNJ5): c.864G> T (p.Glu288Asp) single nucleotide variant Uncertain significance 11:128782032-128782032 11:128912137-128912137

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

74
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 KCNQ1 KCNJ5 KCNH2
2
Show member pathways
12.27 SCN5A KCNQ1 KCNH2
3
Show member pathways
12.27 SCN5A KCNQ1 KCNJ5
4 11.79 KCNQ1 KCNJ5 KCNH2
5 11.54 SCN5A KCNQ1 KCNH2
6
Show member pathways
11.3 KCNQ1 KCNJ5 KCNH2
7
Show member pathways
11.28 SCN5A KCNQ1
8 10.67 SCN5A KCNQ1 KCNJ5 KCNH2

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 T-tubule GO:0030315 8.96 SCN5A KCNJ5
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNQ1 KCNJ5 KCNH2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.77 SCN5A KCNQ1 KCNH2
2 ion transport GO:0006811 9.76 SCN5A KCNQ1 KCNJ5 KCNH2
3 potassium ion transport GO:0006813 9.65 KCNQ1 KCNJ5 KCNH2
4 potassium ion transmembrane transport GO:0071805 9.6 KCNQ1 KCNH2
5 cellular response to drug GO:0035690 9.58 KCNQ1 KCNH2
6 membrane depolarization during action potential GO:0086010 9.58 SCN5A KCNH2
7 potassium ion export across plasma membrane GO:0097623 9.57 KCNQ1 KCNH2
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.56 KCNQ1 KCNH2
9 regulation of ion transmembrane transport GO:0034765 9.56 SCN5A KCNQ1 KCNJ5 KCNH2
10 regulation of membrane repolarization GO:0060306 9.55 KCNQ1 KCNH2
11 membrane repolarization GO:0086009 9.54 KCNQ1 KCNH2
12 cardiac muscle contraction GO:0060048 9.54 SCN5A KCNQ1 KCNH2
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.52 KCNQ1 KCNH2
14 membrane repolarization during action potential GO:0086011 9.51 KCNQ1 KCNH2
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 SCN5A KCNQ1 KCNH2
16 atrial cardiac muscle cell action potential GO:0086014 9.49 SCN5A KCNQ1
17 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.43 SCN5A KCNQ1
18 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.4 KCNQ1 KCNJ5
19 ventricular cardiac muscle cell action potential GO:0086005 9.33 SCN5A KCNQ1 KCNH2
20 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.13 KCNQ1 KCNJ5 KCNH2
21 regulation of heart rate by cardiac conduction GO:0086091 8.92 SCN5A KCNQ1 KCNJ5 KCNH2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.51 SCN5A KCNQ1
2 ion channel activity GO:0005216 9.49 SCN5A KCNH2
3 ion channel binding GO:0044325 9.48 SCN5A KCNQ1
4 potassium channel activity GO:0005267 9.46 KCNQ1 KCNH2
5 voltage-gated potassium channel activity GO:0005249 9.43 KCNQ1 KCNH2
6 delayed rectifier potassium channel activity GO:0005251 9.4 KCNQ1 KCNH2
7 inward rectifier potassium channel activity GO:0005242 9.37 KCNJ5 KCNH2
8 scaffold protein binding GO:0097110 9.33 SCN5A KCNQ1 KCNH2
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.32 KCNQ1 KCNH2
10 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.26 KCNQ1 KCNJ5
11 voltage-gated ion channel activity GO:0005244 9.26 SCN5A KCNQ1 KCNJ5 KCNH2
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.8 KCNQ1 KCNJ5 KCNH2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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