MCID: LNG051
MIFTS: 42

Long Qt Syndrome 6

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 53 12 49 71 28 14 69
Lqt6 53 12 49 71
Susceptibility to Acquired Long Qt Syndrome 6 71
Long Qt Syndrome 3/6 71
Long Qt Syndrome 3-6 69
Long Qt Syndrome-6 13
Lqt3/6 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration


HPO:

31
long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Long Qt Syndrome 6

OMIM : 53 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). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to third-degree atrioventricular block and cardiac conduction disease with or without dilated cardiomyopathy, and has symptoms including syncope, sudden cardiac death and prolonged qt interval. An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Circadian entrainment. Affiliated tissues include heart, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

UniProtKB/Swiss-Prot : 71 Long QT syndrome 6: 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 6

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
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 third-degree atrioventricular block 10.2 KCNE2 SCN5A
2 cardiac conduction disease with or without dilated cardiomyopathy 10.1 KCNH2 KCNQ1 SCN5A
3 long qt syndrome 13 10.1 KCNH2 KCNQ1 SCN5A
4 familial short qt syndrome 10.0 KCNH2 KCNJ2 KCNQ1
5 long qt syndrome 9 10.0 KCNJ2 SCN5A
6 cardiac conduction defect 10.0 KCNH2 RYR2 SCN5A
7 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 CASQ2 RYR2
8 left ventricular noncompaction 10.0 KCNQ1 RYR2 SCN5A
9 syncope 9.8 KCNH2 KCNJ2 KCNQ1 SCN5A
10 long qt syndrome 12 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 sudden infant death syndrome 9.8 KCNH2 KCNQ1 RYR2 SCN5A
12 atrioventricular block 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13 right bundle branch block 9.7 CACNA1C SCN5A
14 cardiac arrest 9.6 CASQ2 KCNQ1 RYR2 SCN5A
15 andersen cardiodysrhythmic periodic paralysis 9.6 KCNE2 KCNJ2 KCNQ1 RYR2 SCN5A
16 timothy syndrome 9.6 CACNA1C KCNE1 KCNH2 KCNQ1
17 long qt syndrome 3 9.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 ventricular fibrillation, paroxysmal familial, 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
19 cardiac arrhythmia 9.5 ANK2 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
20 heart disease 9.3 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
21 intrinsic cardiomyopathy 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
22 jervell and lange-nielsen syndrome 1 9.2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 familial atrial fibrillation 9.1 GLE1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
24 heart conduction disease 9.0 CASQ2 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2
25 dilated cardiomyopathy 9.0 CACNA1C KCNQ1 RYR2 SCN5A
26 long qt syndrome 2 9.0 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.0 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
28 atrial fibrillation 8.9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
29 brugada syndrome 8.9 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
30 familial long qt syndrome 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 short qt syndrome 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 catecholaminergic polymorphic ventricular tachycardia 8.6 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
33 long qt syndrome 8.4 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
34 long qt syndrome 5 8.1 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
35 long qt syndrome 1 8.0 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:



Diseases related to Long Qt Syndrome 6

Symptoms & Phenotypes for Long Qt Syndrome 6

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
prolonged qt interval on ekg
syncope
torsade de pointes
ventricular fibrillation
sudden cardiac death


Clinical features from OMIM:

613693

Human phenotypes related to Long Qt Syndrome 6:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 sudden cardiac death 31 HP:0001645
3 prolonged qt interval 31 HP:0001657
4 ventricular fibrillation 31 HP:0001663
5 torsade de pointes 31 HP:0001664

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 KCNJ2 KCNQ1 MGP RYR2 CACNA1C SCN5A
2 growth/size/body region MP:0005378 9.81 KCNJ2 KCNQ1 MGP RYR2 SCN5A SGK1
3 homeostasis/metabolism MP:0005376 9.61 KCNH2 KCNJ2 KCNQ1 MGP RYR2 CACNA1C
4 muscle MP:0005369 9.23 KCNJ2 KCNQ1 MGP RYR2 CACNA1C SCN5A

Drugs & Therapeutics for Long Qt Syndrome 6

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 6

Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 6 28 KCNE2

Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

38
Heart

Publications for Long Qt Syndrome 6

Variations for Long Qt Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

71
# Symbol AA change Variation ID SNP ID
1 KCNE2 p.Met54Thr VAR_008377 rs74315447
2 KCNE2 p.Ile57Thr VAR_008378 rs74315448
3 KCNE2 p.Val65Met VAR_015063 rs199473364
4 KCNE2 p.Phe60Leu VAR_029334 rs16991654
5 KCNE2 p.Arg77Trp VAR_035386 rs141423405

ClinVar genetic disease variations for Long Qt Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE2 NM_172201.1(KCNE2): c.25C> G (p.Gln9Glu) single nucleotide variant risk factor rs16991652 GRCh37 Chromosome 21, 35742802: 35742802
2 KCNE2 NM_172201.1(KCNE2): c.161T> C (p.Met54Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74315447 GRCh37 Chromosome 21, 35742938: 35742938

Expression for Long Qt Syndrome 6

Search GEO for disease gene expression data for Long Qt Syndrome 6.

Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 CACNA1C KCNE1 KCNQ1 RYR2 SCN5A
2
Show member pathways
12.45 CACNA1C KCNJ2 KCNQ1 RYR2
3
Show member pathways
12.29 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 12.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 11.88 KCNH2 KCNQ1 RYR2 SCN5A
6
Show member pathways
11.85 KCNE2 KCNJ2 KCNQ1
7
Show member pathways
11.78 KCNH2 KCNJ2 KCNQ1
8
Show member pathways
11.43 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
9 11.07 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
10 10.97 ANK2 SCN5A
11 10.78 KCNE1 KCNJ2 KCNQ1

GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.83 KCNE1 KCNE2 KCNH2 SCN5A
2 lysosome GO:0005764 9.71 ANK2 KCNE1 KCNE2 KCNQ1
3 sarcoplasmic reticulum membrane GO:0033017 9.51 CASQ2 RYR2
4 voltage-gated calcium channel complex GO:0005891 9.48 CACNA1C CASQ2
5 smooth endoplasmic reticulum GO:0005790 9.46 KCNJ2 RYR2
6 calcium channel complex GO:0034704 9.43 CASQ2 RYR2
7 intercalated disc GO:0014704 9.43 ANK2 KCNJ2 SCN5A
8 voltage-gated potassium channel complex GO:0008076 9.35 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9 T-tubule GO:0030315 9.33 ANK2 KCNJ2 SCN5A
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 CASQ2 RYR2
11 Z disc GO:0030018 9.1 ANK2 CACNA1C CASQ2 KCNE1 RYR2 SCN5A
12 membrane GO:0016020 10.24 ANK2 CACNA1C GLE1 KCNE1 KCNE2 KCNH2
13 plasma membrane GO:0005886 10.07 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.99 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 regulation of ion transmembrane transport GO:0034765 9.98 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 cardiac muscle contraction GO:0060048 9.91 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
4 regulation of heart rate GO:0002027 9.88 ANK2 CASQ2 RYR2 SCN5A
5 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.86 ANK2 CACNA1C CASQ2 RYR2
6 cellular response to drug GO:0035690 9.85 KCNE2 KCNH2 KCNQ1
7 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
8 membrane repolarization GO:0086009 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
9 regulation of potassium ion transmembrane transport GO:1901379 9.8 KCNE1 KCNE2 KCNH2
10 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNJ2 KCNQ1
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
12 regulation of cardiac muscle cell contraction GO:0086004 9.79 ANK2 KCNJ2 SCN5A
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.79 CACNA1C KCNJ2 SCN5A
14 atrial cardiac muscle cell action potential GO:0086014 9.78 ANK2 KCNQ1 SCN5A
15 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
16 regulation of membrane repolarization GO:0060306 9.77 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
18 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.73 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 membrane repolarization during action potential GO:0086011 9.72 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
20 membrane depolarization during action potential GO:0086010 9.71 KCNH2 SCN5A
21 potassium ion import GO:0010107 9.71 KCNE2 KCNJ2
22 regulation of cardiac muscle contraction GO:0055117 9.71 ANK2 RYR2
23 positive regulation of heart rate GO:0010460 9.7 KCNQ1 RYR2
24 calcium ion transport into cytosol GO:0060402 9.7 CACNA1C RYR2
25 cellular response to epinephrine stimulus GO:0071872 9.7 KCNQ1 RYR2
26 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.7 CACNA1C RYR2
27 cardiac conduction GO:0061337 9.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 detection of calcium ion GO:0005513 9.69 CASQ2 RYR2
29 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.69 CACNA1C RYR2
30 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.68 KCNE1 KCNE2
31 cellular response to caffeine GO:0071313 9.68 CASQ2 RYR2
32 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.68 ANK2 RYR2
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE1 KCNE2
34 SA node cell action potential GO:0086015 9.67 ANK2 SCN5A
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 KCNQ1 SCN5A
36 sarcoplasmic reticulum calcium ion transport GO:0070296 9.66 ANK2 RYR2
37 membrane depolarization during SA node cell action potential GO:0086046 9.66 ANK2 SCN5A
38 membrane depolarization during AV node cell action potential GO:0086045 9.65 CACNA1C SCN5A
39 potassium ion export across plasma membrane GO:0097623 9.65 KCNH2 KCNQ1
40 regulation of atrial cardiac muscle cell action potential GO:0098910 9.65 ANK2 RYR2
41 regulation of gastric acid secretion GO:0060453 9.64 KCNQ1 SGK1
42 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.64 CACNA1C SCN5A
43 regulation of SA node cell action potential GO:0098907 9.63 ANK2 RYR2
44 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.63 CASQ2 RYR2
45 regulation of heart rate by cardiac conduction GO:0086091 9.56 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
46 ventricular cardiac muscle cell action potential GO:0086005 9.17 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
47 transport GO:0006810 10.27 ANK2 CACNA1C GLE1 KCNE1 KCNE2 KCNH2
48 ion transport GO:0006811 10.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
49 transmembrane transport GO:0055085 10.09 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
50 ion transmembrane transport GO:0034220 10.05 CACNA1C CASQ2 KCNQ1 RYR2 SCN5A SGK1

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.8 CACNA1C KCNQ1 RYR2 SCN5A
2 ion channel activity GO:0005216 9.76 CACNA1C KCNH2 RYR2 SCN5A
3 ion channel binding GO:0044325 9.72 ANK2 KCNE2 KCNQ1 RYR2 SCN5A
4 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.69 KCNH2 KCNQ1 SCN5A
6 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
7 potassium channel regulator activity GO:0015459 9.65 KCNE1 KCNE2 SGK1
8 voltage-gated ion channel activity GO:0005244 9.63 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
9 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNH2 KCNJ2
10 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
11 protein kinase A regulatory subunit binding GO:0034237 9.54 KCNQ1 RYR2
12 protein kinase A catalytic subunit binding GO:0034236 9.52 KCNQ1 RYR2
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1
15 protein binding GO:0005515 10.33 ANK2 CACNA1C CASQ2 GLE1 KCNE1 KCNE2

Sources for Long Qt Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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