MCID: LNG057
MIFTS: 39

Long Qt Syndrome 13

Categories: Genetic diseases, Cardiovascular 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 75 29 13 6 15 73
Lqt13 57 12 75
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:



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 and familial short 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 Aldosterone synthesis and secretion and Transmission across Chemical Synapses. 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 : 75 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 27.5 KCNH2 KCNJ5 KCNQ1 SCN5A
2 familial short qt syndrome 9.9 KCNH2 KCNQ1
3 timothy syndrome 9.8 KCNH2 KCNQ1
4 short qt syndrome 9.8 KCNH2 KCNQ1
5 brugada syndrome 1 9.6 KCNH2 SCN5A
6 catecholaminergic polymorphic ventricular tachycardia 9.5 KCNH2 SCN5A
7 cardiac arrest 9.3 KCNQ1 SCN5A
8 left ventricular noncompaction 9.1 KCNQ1 SCN5A
9 long qt syndrome 12 9.1 KCNH2 KCNQ1 SCN5A
10 long qt syndrome 3 9.0 KCNH2 KCNQ1 SCN5A
11 cardiac conduction defect 9.0 KCNH2 KCNQ1 SCN5A
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.0 KCNH2 KCNQ1 SCN5A
13 syncope 9.0 KCNH2 KCNQ1 SCN5A
14 long qt syndrome 6 9.0 KCNH2 KCNQ1 SCN5A
15 cardiac arrhythmia 9.0 KCNH2 KCNQ1 SCN5A
16 long qt syndrome 2 9.0 KCNH2 KCNQ1 SCN5A
17 arrhythmogenic right ventricular cardiomyopathy 9.0 KCNH2 SCN5A
18 heart conduction disease 9.0 KCNH2 KCNQ1 SCN5A
19 intrinsic cardiomyopathy 9.0 KCNH2 KCNQ1 SCN5A
20 atrioventricular block 9.0 KCNH2 KCNQ1 SCN5A
21 familial atrial fibrillation 9.0 KCNH2 KCNQ1 SCN5A
22 atrial fibrillation 8.9 KCNH2 KCNQ1 SCN5A
23 brugada syndrome 8.9 KCNH2 KCNQ1 SCN5A
24 sudden infant death syndrome 8.9 KCNH2 KCNQ1 SCN5A
25 dilated cardiomyopathy 8.6 KCNH2 KCNQ1 SCN5A
26 long qt syndrome 5 8.5 KCNH2 KCNJ5 KCNQ1 SCN5A
27 ventricular fibrillation, paroxysmal familial, 1 8.5 KCNH2 KCNJ5 KCNQ1 SCN5A
28 andersen cardiodysrhythmic periodic paralysis 8.5 KCNH2 KCNJ5 KCNQ1 SCN5A
29 long qt syndrome 1 8.5 KCNH2 KCNJ5 KCNQ1 SCN5A
30 jervell and lange-nielsen syndrome 1 8.4 KCNH2 KCNQ1 NOTCH1 SCN5A
31 heart disease 8.3 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
syncopal episodes, related to emotional or physical stress
long qt interval on electrocardiogram
ventricular repolarization abnormalities on electrocardiogram
heart failure
atrial tachycardia
more
Respiratory Lung:
pulmonary embolism

Cardiovascular Vascular:
hypertension
coronary artery disease


Clinical features from OMIM:

613485

Human phenotypes related to Long Qt Syndrome 13:

32 (show all 10)
# 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 atrial fibrillation 32 HP:0005110
9 paroxysmal atrial fibrillation 32 HP:0004757
10 coronary artery atherosclerosis 32 HP:0001677

MGI Mouse Phenotypes related to Long Qt Syndrome 13:

46
# 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 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 Year
1
Phenotypic characterization of a family with long QT syndrome 13: a different type of variable penetrance. ( 23892339 )
2013

Variations for Long Qt Syndrome 13

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

75
# 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
12.51 KCNJ5 KCNQ1 SCN5A
2
Show member pathways
12.49 KCNH2 KCNJ5 KCNQ1
3
Show member pathways
12.34 KCNH2 KCNQ1 SCN5A
4 11.79 KCNH2 KCNJ5 KCNQ1
5 11.54 KCNH2 KCNQ1 SCN5A
6
Show member pathways
11.3 KCNH2 KCNJ5 KCNQ1
7
Show member pathways
11.28 KCNQ1 SCN5A
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 24)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.87 KCNH2 KCNJ5 KCNQ1 SCN5A
2 transmembrane transport GO:0055085 9.79 KCNH2 KCNQ1 SCN5A
3 potassium ion transport GO:0006813 9.72 KCNH2 KCNJ5 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.62 KCNH2 KCNQ1
5 regulation of ion transmembrane transport GO:0034765 9.62 KCNH2 KCNJ5 KCNQ1 SCN5A
6 cellular response to drug GO:0035690 9.61 KCNH2 KCNQ1
7 positive regulation of epithelial cell proliferation GO:0050679 9.6 NOTCH1 SCN5A
8 membrane depolarization during action potential GO:0086010 9.59 KCNH2 SCN5A
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.58 KCNH2 KCNQ1
10 regulation of membrane repolarization GO:0060306 9.58 KCNH2 KCNQ1
11 cardiac conduction GO:0061337 9.58 KCNH2 KCNQ1 SCN5A
12 membrane repolarization GO:0086009 9.56 KCNH2 KCNQ1
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.54 KCNH2 KCNQ1
14 cardiac muscle contraction GO:0060048 9.54 KCNH2 KCNQ1 SCN5A
15 atrial cardiac muscle cell action potential GO:0086014 9.52 KCNQ1 SCN5A
16 potassium ion export GO:0071435 9.51 KCNH2 KCNQ1
17 membrane repolarization during action potential GO:0086011 9.49 KCNH2 KCNQ1
18 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.48 KCNQ1 SCN5A
19 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.46 KCNJ5 KCNQ1
20 potassium ion export across plasma membrane GO:0097623 9.43 KCNH2 KCNQ1
21 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNH2 KCNQ1 SCN5A
22 ventricular cardiac muscle cell action potential GO:0086005 9.33 KCNH2 KCNQ1 SCN5A
23 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.13 KCNH2 KCNJ5 KCNQ1
24 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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