LQT13
MCID: LNG057
MIFTS: 40

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 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:



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.

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:



Diseases related to Long Qt Syndrome 13

Symptoms & Phenotypes for Long Qt Syndrome 13

Human phenotypes related to Long Qt Syndrome 13:

33 (show all 11)
# Description HPO Frequency 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

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 30 KCNJ5

Anatomical Context for Long Qt Syndrome 13

MalaCards organs/tissues related to Long Qt Syndrome 13:

42
Heart

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 )
2014
2
A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. ( 24574546 )
2014
3
Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. ( 23892339 )
2013
4
Identification of a Kir3.4 mutation in congenital long QT syndrome. ( 20560207 )
2010

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

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
12.51 KCNH2 KCNJ5 KCNQ1
2
Show member pathways
12.45 KCNJ5 KCNQ1 SCN5A
3
Show member pathways
12.36 KCNH2 KCNQ1 SCN5A
4 11.79 KCNH2 KCNJ5 KCNQ1
5 11.54 KCNH2 KCNQ1 SCN5A
6
Show member pathways
11.31 KCNQ1 SCN5A
7
Show member pathways
11.3 KCNH2 KCNJ5 KCNQ1
8 11.09 NOTCH1 SCN5A
9 11 KCNH2 NOTCH1
10 10.67 KCNH2 KCNJ5 KCNQ1 SCN5A

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 for Long Qt Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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