MCID: LNG050
MIFTS: 42

Long Qt Syndrome 5

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 5

MalaCards integrated aliases for Long Qt Syndrome 5:

Name: Long Qt Syndrome 5 57 12 53 75 29 6 15 73
Lqt5 57 12 53 75
Long Qt Syndrome 5, Acquired, Susceptibility to 6
Susceptibility to Acquired Long Qt Syndrome 5 75
Qt Syndrome, Long, Type 5 40
Long Qt Syndrome 2/5 75
Long Qt Syndrome 2-5 73
Long Qt Syndrome-5 13
Lqt2/5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome
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 5:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 613695
Disease Ontology 12 DOID:0110647
ICD10 33 I45.8
MeSH 44 D008133

Summaries for Long Qt Syndrome 5

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). (613695)

MalaCards based summary : Long Qt Syndrome 5, also known as lqt5, is related to long qt syndrome 2 and long qt syndrome, and has symptoms including syncope An important gene associated with Long Qt Syndrome 5 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1), and among its related pathways/superpathways are Circadian entrainment and Aldosterone synthesis and secretion. Affiliated tissues include heart, and related phenotypes are syncope and sudden cardiac death

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.

UniProtKB/Swiss-Prot : 75 Long QT syndrome 5: 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 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 28.9 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
2 long qt syndrome 25.5 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
3 timothy syndrome 10.1 KCNE1 KCNH2 KCNQ1
4 familial short qt syndrome 10.1 KCNH2 KCNJ2 KCNQ1
5 brugada syndrome 1 9.9 AKAP9 KCNH2 SCN5A
6 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 CASQ2 RYR2
7 long qt syndrome 9 9.7 KCNJ2 SCN5A
8 syncope 9.7 KCNH2 KCNJ2 KCNQ1 SCN5A
9 cardiac conduction defect 9.6 KCNH2 KCNQ1 RYR2 SCN5A
10 long qt syndrome 12 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 jervell and lange-nielsen syndrome 1 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
12 atrioventricular block 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13 left ventricular noncompaction 9.6 KCNQ1 RYR2 SCN5A
14 short qt syndrome 9.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
15 long qt syndrome 13 9.4 KCNH2 KCNJ5 KCNQ1 SCN5A
16 sudden infant death syndrome 9.4 KCNH2 KCNQ1 RYR2 SCN5A
17 arrhythmogenic right ventricular cardiomyopathy 9.4 ANK2 KCNH2 RYR2 SCN5A
18 cardiac arrest 9.3 CASQ2 KCNQ1 RYR2 SCN5A
19 long qt syndrome 3 9.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 familial atrial fibrillation 9.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
21 andersen cardiodysrhythmic periodic paralysis 8.8 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
22 heart disease 8.7 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
23 brugada syndrome 8.7 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1
24 intrinsic cardiomyopathy 8.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
25 heart conduction disease 8.7 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
26 catecholaminergic polymorphic ventricular tachycardia 8.6 ANK2 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
27 ventricular fibrillation, paroxysmal familial, 1 8.4 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 RYR2
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 8.3 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
29 cardiac arrhythmia 8.3 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 atrial fibrillation 8.3 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 long qt syndrome 6 6.7 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
32 long qt syndrome 1 5.9 AKAP9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 5:



Diseases related to Long Qt Syndrome 5

Symptoms & Phenotypes for Long Qt Syndrome 5

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:

613695

Human phenotypes related to Long Qt Syndrome 5:

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

UMLS symptoms related to Long Qt Syndrome 5:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 PIK3CD RYR2 SCN5A CASQ2 KCNH2 KCNJ2
2 muscle MP:0005369 9.1 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A

Drugs & Therapeutics for Long Qt Syndrome 5

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 5

Genetic Tests for Long Qt Syndrome 5

Genetic tests related to Long Qt Syndrome 5:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 5 29 KCNE1

Anatomical Context for Long Qt Syndrome 5

MalaCards organs/tissues related to Long Qt Syndrome 5:

41
Heart

Publications for Long Qt Syndrome 5

Articles related to Long Qt Syndrome 5:

# Title Authors Year
1
The role of abnormal trafficking of KCNE1 in long QT syndrome 5. ( 17956282 )
2007
2
Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5. ( 17095567 )
2007

Variations for Long Qt Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 5:

75
# Symbol AA change Variation ID SNP ID
1 KCNE1 p.Ser74Leu VAR_008900 rs74315446
2 KCNE1 p.Asp76Asn VAR_008901 rs74315445
3 KCNE1 p.Trp87Arg VAR_008903 rs199473361
4 KCNE1 p.Arg98Trp VAR_009907 rs199473362
5 KCNE1 p.Pro127Thr VAR_009908 rs199473647
6 KCNE1 p.Val109Ile VAR_012802 rs77442996

Expression for Long Qt Syndrome 5

Search GEO for disease gene expression data for Long Qt Syndrome 5.

Pathways for Long Qt Syndrome 5

Pathways related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 KCNJ2 KCNJ5 KCNQ1 PIK3CD RYR2
2
Show member pathways
12.72 KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
3
Show member pathways
12.69 AKAP9 KCNH2 KCNJ2 KCNJ5 KCNQ1
4
Show member pathways
12.49 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 11.92 KCNH2 KCNQ1 RYR2 SCN5A
6
Show member pathways
11.89 KCNE2 KCNJ2 KCNQ1
7 11.86 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
8
Show member pathways
11.84 KCNH2 KCNJ2 KCNJ5 KCNQ1
9
Show member pathways
11.53 AKAP9 KCNE1 KCNE2 KCNQ1 SCN5A
10 11.09 PIK3CD SGK1
11 11.07 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
12 10.99 ANK2 SCN5A
13 10.78 KCNE1 KCNJ2 KCNQ1

GO Terms for Long Qt Syndrome 5

Cellular components related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.73 ANK2 KCNE1 KCNE2 KCNQ1
2 membrane raft GO:0045121 9.7 ANK2 KCNE1 KCNQ1
3 sarcolemma GO:0042383 9.58 ANK2 RYR2 SCN5A
4 sarcoplasmic reticulum membrane GO:0033017 9.51 CASQ2 RYR2
5 intercalated disc GO:0014704 9.5 ANK2 KCNJ2 SCN5A
6 smooth endoplasmic reticulum GO:0005790 9.48 KCNJ2 RYR2
7 calcium channel complex GO:0034704 9.46 CASQ2 RYR2
8 T-tubule GO:0030315 9.46 ANK2 KCNJ2 KCNJ5 SCN5A
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.37 CASQ2 RYR2
10 Z disc GO:0030018 9.35 ANK2 CASQ2 KCNE1 RYR2 SCN5A
11 voltage-gated potassium channel complex GO:0008076 9.17 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
12 membrane GO:0016020 10.24 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
13 plasma membrane GO:0005886 10 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5

Biological processes related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.98 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
2 potassium ion transmembrane transport GO:0071805 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 cardiac muscle contraction GO:0060048 9.91 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
4 regulation of heart rate by cardiac conduction GO:0086091 9.91 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
5 regulation of heart rate GO:0002027 9.87 ANK2 CASQ2 RYR2 SCN5A
6 cardiac conduction GO:0061337 9.87 AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
7 cellular response to drug GO:0035690 9.85 KCNE2 KCNH2 KCNQ1
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 KCNE1 KCNE2 KCNJ2 SCN5A
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
10 cellular response to cAMP GO:0071320 9.82 AKAP9 KCNE1 KCNQ1
11 potassium ion import GO:0010107 9.8 KCNE2 KCNJ2 KCNJ5
12 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.78 ANK2 CASQ2 RYR2
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.78 KCNE1 KCNH2 KCNJ2 KCNQ1
16 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
17 regulation of cardiac muscle cell contraction GO:0086004 9.77 ANK2 KCNJ2 SCN5A
18 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
19 atrial cardiac muscle cell action potential GO:0086014 9.76 ANK2 KCNQ1 SCN5A
20 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
21 membrane depolarization during action potential GO:0086010 9.7 KCNH2 SCN5A
22 regulation of cardiac muscle contraction GO:0055117 9.7 ANK2 RYR2
23 positive regulation of heart rate GO:0010460 9.7 KCNQ1 RYR2
24 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.7 ANK2 CASQ2
25 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.7 AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1
26 detection of calcium ion GO:0005513 9.69 CASQ2 RYR2
27 cellular response to epinephrine stimulus GO:0071872 9.69 KCNQ1 RYR2
28 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 KCNJ2 SCN5A
29 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.68 KCNE1 KCNE2
30 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.68 ANK2 RYR2
31 cellular response to caffeine GO:0071313 9.68 CASQ2 RYR2
32 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE1 KCNE2
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 KCNQ1 SCN5A
34 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.67 AKAP9 ANK2
35 SA node cell action potential GO:0086015 9.66 ANK2 SCN5A
36 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.66 KCNJ5 KCNQ1
37 membrane depolarization during SA node cell action potential GO:0086046 9.65 ANK2 SCN5A
38 sarcoplasmic reticulum calcium ion transport GO:0070296 9.65 ANK2 RYR2
39 potassium ion export across plasma membrane GO:0097623 9.64 KCNH2 KCNQ1
40 regulation of gastric acid secretion GO:0060453 9.64 KCNQ1 SGK1
41 regulation of atrial cardiac muscle cell action potential GO:0098910 9.63 ANK2 RYR2
42 regulation of SA node cell action potential GO:0098907 9.62 ANK2 RYR2
43 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.62 CASQ2 RYR2
44 ventricular cardiac muscle cell action potential GO:0086005 9.5 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
45 regulation of membrane repolarization GO:0060306 9.17 AKAP9 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
46 ion transport GO:0006811 10.16 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
47 ion transmembrane transport GO:0034220 10.01 CASQ2 KCNQ1 RYR2 SCN5A SGK1
48 potassium ion transport GO:0006813 10 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1

Molecular functions related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
2 calmodulin binding GO:0005516 9.73 KCNQ1 RYR2 SCN5A
3 voltage-gated potassium channel activity GO:0005249 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
4 voltage-gated ion channel activity GO:0005244 9.73 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
5 ion channel activity GO:0005216 9.72 KCNH2 RYR2 SCN5A
6 potassium channel regulator activity GO:0015459 9.71 AKAP9 KCNE1 KCNE2 SGK1
7 scaffold protein binding GO:0097110 9.69 KCNH2 KCNQ1 SCN5A
8 delayed rectifier potassium channel activity GO:0005251 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
9 protein kinase A regulatory subunit binding GO:0034237 9.65 AKAP9 KCNQ1 RYR2
10 ion channel binding GO:0044325 9.63 AKAP9 ANK2 KCNE2 KCNQ1 RYR2 SCN5A
11 inward rectifier potassium channel activity GO:0005242 9.62 KCNE2 KCNH2 KCNJ2 KCNJ5
12 protein kinase A catalytic subunit binding GO:0034236 9.54 KCNQ1 RYR2
13 G-protein activated inward rectifier potassium channel activity GO:0015467 9.52 KCNJ2 KCNJ5
14 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.49 KCNJ5 KCNQ1
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
16 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.02 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
17 protein binding GO:0005515 10.35 AKAP9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2

Sources for Long Qt Syndrome 5

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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