MCID: LNG051
MIFTS: 41

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 57 12 53 75 29 6 15 73
Lqt6 57 12 53 75
Long Qt Syndrome 6, Acquired, Susceptibility to 6
Susceptibility to Acquired Long Qt Syndrome 6 75
Qt Syndrome, Long, Type 6 40
Long Qt Syndrome 3/6 75
Long Qt Syndrome 3-6 73
Long Qt Syndrome-6 13
Lqt3/6 75

Characteristics:

OMIM:

57
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:

32
long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Long Qt Syndrome 6

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). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to atrial fibrillation, familial, 4 and brugada syndrome 1, and has symptoms including syncope 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 Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

UniProtKB/Swiss-Prot : 75 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.

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.

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

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 atrial fibrillation, familial, 4 10.6 KCNE2 LOC105372791
2 brugada syndrome 1 10.3 KCNH2 SCN5A
3 long qt syndrome 13 10.2 KCNH2 KCNQ1 SCN5A
4 familial short qt syndrome 10.1 KCNH2 KCNJ2 KCNQ1
5 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 CASQ2 RYR2
6 long qt syndrome 9 10.0 KCNJ2 SCN5A
7 cardiac conduction defect 9.8 KCNH2 KCNQ1 RYR2 SCN5A
8 left ventricular noncompaction 9.8 KCNQ1 RYR2 SCN5A
9 syncope 9.7 KCNH2 KCNJ2 KCNQ1 SCN5A
10 long qt syndrome 12 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 sudden infant death syndrome 9.7 KCNH2 KCNQ1 RYR2 SCN5A
12 atrioventricular block 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13 arrhythmogenic right ventricular cardiomyopathy 9.6 ANK2 KCNH2 RYR2 SCN5A
14 andersen cardiodysrhythmic periodic paralysis 9.5 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
15 cardiac arrest 9.4 CASQ2 KCNQ1 RYR2 SCN5A
16 timothy syndrome 9.3 CACNA1C KCNE1 KCNH2 KCNQ1
17 long qt syndrome 3 9.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 right bundle branch block 9.2 CACNA1C SCN5A
19 heart disease 8.9 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
20 familial atrial fibrillation 8.9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LOC105372791
21 intrinsic cardiomyopathy 8.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
22 heart conduction disease 8.7 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
23 jervell and lange-nielsen syndrome 1 8.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 catecholaminergic polymorphic ventricular tachycardia 8.7 ANK2 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
25 dilated cardiomyopathy 8.6 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
26 short qt syndrome 8.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27 long qt syndrome 2 8.4 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 8.4 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
29 atrial fibrillation 8.4 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 ventricular fibrillation, paroxysmal familial, 1 8.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
31 brugada syndrome 8.3 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
32 cardiac arrhythmia 7.4 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
33 long qt syndrome 7.4 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
34 long qt syndrome 5 7.0 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
35 long qt syndrome 1 6.8 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 prolonged qt interval 32 HP:0001657
3 syncope 32 HP:0001279
4 ventricular fibrillation 32 HP:0001663
5 torsade de pointes 32 HP:0001664

UMLS symptoms related to Long Qt Syndrome 6:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CASQ2 KCNH2 KCNJ2 KCNQ1 MGP RYR2
2 growth/size/body region MP:0005378 9.61 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1 MGP
3 muscle MP:0005369 9.23 CASQ2 KCNH2 KCNJ2 KCNQ1 MGP RYR2

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 29 KCNE2

Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

41
Heart

Publications for Long Qt Syndrome 6

Variations for Long Qt Syndrome 6

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

75
# 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.354G> A (p.Gly118=) single nucleotide variant Benign/Likely benign rs187917779 GRCh37 Chromosome 21, 35743131: 35743131
2 KCNE2 NM_172201.1(KCNE2): c.354G> A (p.Gly118=) single nucleotide variant Benign/Likely benign rs187917779 GRCh38 Chromosome 21, 34370832: 34370832
3 KCNE2 NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu) single nucleotide variant Uncertain significance rs183427173 GRCh37 Chromosome 21, 35743094: 35743094
4 KCNE2 NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu) single nucleotide variant Uncertain significance rs183427173 GRCh38 Chromosome 21, 34370795: 34370795
5 KCNE2 NM_172201.1(KCNE2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 34370668: 34370668
6 KCNE2 NM_172201.1(KCNE2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 35742967: 35742967
7 KCNE2 NM_172201.1(KCNE2): c.339C> T (p.Asn113=) single nucleotide variant Likely benign rs756380802 GRCh37 Chromosome 21, 35743116: 35743116
8 KCNE2 NM_172201.1(KCNE2): c.339C> T (p.Asn113=) single nucleotide variant Likely benign rs756380802 GRCh38 Chromosome 21, 34370817: 34370817
9 KCNE2 NM_172201.1(KCNE2): c.204G> A (p.Leu68=) single nucleotide variant Uncertain significance rs200403369 GRCh37 Chromosome 21, 35742981: 35742981
10 KCNE2 NM_172201.1(KCNE2): c.204G> A (p.Leu68=) single nucleotide variant Uncertain significance rs200403369 GRCh38 Chromosome 21, 34370682: 34370682

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 CACNA1C KCNE1 KCNQ1 RYR2 SCN5A
2
Show member pathways
12.29 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 12.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 11.88 KCNH2 KCNQ1 RYR2 SCN5A
5
Show member pathways
11.85 KCNE2 KCNJ2 KCNQ1
6
Show member pathways
11.78 KCNH2 KCNJ2 KCNQ1
7
Show member pathways
11.43 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
8 11.07 ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
9 10.95 ANK2 SCN5A
10 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 12)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.71 ANK2 KCNE1 KCNE2 KCNQ1
2 sarcolemma GO:0042383 9.54 ANK2 RYR2 SCN5A
3 sarcoplasmic reticulum membrane GO:0033017 9.51 CASQ2 RYR2
4 voltage-gated calcium channel complex GO:0005891 9.49 CACNA1C CASQ2
5 smooth endoplasmic reticulum GO:0005790 9.48 KCNJ2 RYR2
6 calcium channel complex GO:0034704 9.46 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 plasma membrane GO:0005886 10.13 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 transport GO:0006813 9.99 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 potassium ion transmembrane transport GO:0071805 9.98 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 regulation of ion transmembrane transport GO:0034765 9.98 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 cardiac muscle contraction GO:0060048 9.92 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
5 regulation of heart rate GO:0002027 9.87 ANK2 CASQ2 RYR2 SCN5A
6 cellular response to drug GO:0035690 9.85 KCNE2 KCNH2 KCNQ1
7 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.85 ANK2 CACNA1C CASQ2 RYR2
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
9 membrane depolarization during action potential GO:0086010 9.81 CACNA1C KCNH2 SCN5A
10 membrane repolarization GO:0086009 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
11 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNJ2 KCNQ1
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
14 cardiac conduction GO:0061337 9.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
15 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNE1 KCNE2 KCNH2
16 regulation of cardiac muscle cell contraction GO:0086004 9.79 ANK2 KCNJ2 SCN5A
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.78 CACNA1C KCNJ2 SCN5A
18 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
19 atrial cardiac muscle cell action potential GO:0086014 9.77 ANK2 KCNQ1 SCN5A
20 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
22 potassium ion import GO:0010107 9.71 KCNE2 KCNJ2
23 regulation of cardiac muscle contraction GO:0055117 9.71 ANK2 RYR2
24 positive regulation of heart rate GO:0010460 9.71 KCNQ1 RYR2
25 calcium ion transport into cytosol GO:0060402 9.7 CACNA1C RYR2
26 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.7 ANK2 CASQ2
27 detection of calcium ion GO:0005513 9.7 CASQ2 RYR2
28 cellular response to epinephrine stimulus GO:0071872 9.7 KCNQ1 RYR2
29 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 CACNA1C RYR2
30 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.69 CACNA1C RYR2
31 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.69 KCNE1 KCNE2
32 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.68 ANK2 RYR2
33 cellular response to caffeine GO:0071313 9.68 CASQ2 RYR2
34 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE1 KCNE2
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 KCNQ1 SCN5A
36 SA node cell action potential GO:0086015 9.67 ANK2 SCN5A
37 membrane depolarization during AV node cell action potential GO:0086045 9.66 CACNA1C SCN5A
38 membrane depolarization during SA node cell action potential GO:0086046 9.66 ANK2 SCN5A
39 sarcoplasmic reticulum calcium ion transport GO:0070296 9.65 ANK2 RYR2
40 potassium ion export across plasma membrane GO:0097623 9.65 KCNH2 KCNQ1
41 regulation of gastric acid secretion GO:0060453 9.65 KCNQ1 SGK1
42 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.64 CACNA1C SCN5A
43 regulation of atrial cardiac muscle cell action potential GO:0098910 9.64 ANK2 RYR2
44 regulation of SA node cell action potential GO:0098907 9.63 ANK2 RYR2
45 regulation of membrane repolarization GO:0060306 9.63 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.62 CASQ2 RYR2
47 regulation of heart rate by cardiac conduction GO:0086091 9.56 ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
48 ventricular cardiac muscle cell action potential GO:0086005 9.17 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
49 ion transport GO:0006811 10.16 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
50 transmembrane transport GO:0055085 10.08 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A

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

(show all 14)
# 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

Sources for Long Qt Syndrome 6

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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