LQT15
MCID: LNG096
MIFTS: 39

Long Qt Syndrome 15 (LQT15)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Name: Long Qt Syndrome 15 56 12 73 29 6 15 71
Lqt15 56 12 73
Long Qt Syndrome, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood


HPO:

31
long qt syndrome 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110656
OMIM 56 616249
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C4015695

Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : 73 Long QT syndrome 15: A form of long QT syndrome, 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.

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to sinoatrial node disease and right bundle branch block. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Affiliated tissues include heart, and related phenotypes are cardiac arrest and bradycardia

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

More information from OMIM: 616249 PS192500

Related Diseases for Long Qt Syndrome 15

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
Long Qt Syndrome 8 Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 sinoatrial node disease 10.0 SCN3B SCN1B
2 right bundle branch block 9.9 SCN3B SCN1B
3 andersen cardiodysrhythmic periodic paralysis 9.8 TRDN KCNE1
4 sick sinus syndrome 9.8 SCN3B SCN1B
5 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 TRDN CD2AP CALM1
6 hypokalemic periodic paralysis, type 1 9.7 TRDN KCNE1
7 cardiac arrest 9.7 TRDN CALM3 CALM1
8 timothy syndrome 9.7 KCNE1 CD2AP
9 long qt syndrome 3 9.6 SCN3B SCN1B KCNE1
10 short qt syndrome 9.6 SCN3B SCN1B KCNE1
11 familial atrial fibrillation 9.6 SCN3B SCN1B KCNE1
12 atrial fibrillation 9.5 SCN3B SCN1B KCNE1
13 myasthenic syndrome, congenital, 5 9.4 KCNE1 CD2AP
14 heart conduction disease 9.3 TRDN SCN3B SCN1B KCNE1
15 long qt syndrome 14 9.0 TRDN SCN1B KCNE1 CALM3 CALM1
16 long qt syndrome 2 8.9 TRDN SCN3B SCN1B KCNE1 CD2AP
17 long qt syndrome 8.8 TRDN SCN1B KCNE1 CALM3 CALM2 CALM1
18 brugada syndrome 8.7 TRDN SCN3B SCN1B KCNE1 CD2AP CALM2
19 catecholaminergic polymorphic ventricular tachycardia 8.0 TRDN SCN3B SCN1B KCNE1 CD2AP CALM3
20 long qt syndrome 1 8.0 TRDN SCN3B SCN1B KCNE1 CD2AP CALM3

Graphical network of the top 20 diseases related to Long Qt Syndrome 15:



Diseases related to Long Qt Syndrome 15

Symptoms & Phenotypes for Long Qt Syndrome 15

Human phenotypes related to Long Qt Syndrome 15:

31
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 31 occasional (7.5%) HP:0001695
2 bradycardia 31 occasional (7.5%) HP:0001662
3 prolonged qtc interval 31 HP:0005184
4 ventricular fibrillation 31 HP:0001663

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
cardiac arrest (in some patients)
bradycardia (in some patients)
recurrent episodes of ventricular fibrillation
sudden death (in some patients) prolonged qtc interval on electrocardiogram (ecg)
notched t waves on ecg (in some patients)
more
Prenatal Manifestations:
fetal bradycardia (in some patients)

Clinical features from OMIM:

616249

Drugs & Therapeutics for Long Qt Syndrome 15

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 15

Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 15 29 CALM2

Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

40
Heart

Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

# Title Authors PMID Year
1
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 56 6
24917665 2014
2
Calmodulin mutations associated with recurrent cardiac arrest in infants. 56 6
23388215 2013
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
4
Long QT Syndrome 6
20301308 2003
5
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. 61
31283864 2019
6
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. 61
28335032 2017

Variations for Long Qt Syndrome 15

ClinVar genetic disease variations for Long Qt Syndrome 15:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALM2 NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)SNV Pathogenic 96722 rs398124648 2:47388887-47388887 2:47161748-47161748
2 CALM2 NM_001743.6(CALM2):c.287A>T (p.Asp96Val)SNV Pathogenic 183233 rs730882254 2:47388996-47388996 2:47161857-47161857
3 CALM2 NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)SNV Pathogenic 488476 rs1553431702 2:47388869-47388869 2:47161730-47161730
4 CALM2 NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)SNV Pathogenic/Likely pathogenic 96720 rs398124647 2:47388990-47388990 2:47161851-47161851
5 CALM2 NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)SNV Pathogenic/Likely pathogenic 96721 rs398124647 2:47388990-47388990 2:47161851-47161851
6 CALM2 NM_001743.6(CALM2):c.400G>C (p.Asp134His)SNV Pathogenic/Likely pathogenic 96723 rs398124650 2:47388883-47388883 2:47161744-47161744
7 CALM2 NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)SNV Pathogenic/Likely pathogenic 96724 rs398124649 2:47388876-47388876 2:47161737-47161737
8 CALM2 NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)SNV Conflicting interpretations of pathogenicity 448971 rs398124650 2:47388883-47388883 2:47161744-47161744

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:

73
# Symbol AA change Variation ID SNP ID
1 CALM2 p.Asp96Val VAR_073276 rs730882254
2 CALM2 p.Asn98Ile VAR_073277 rs398124647
3 CALM2 p.Asp132Glu VAR_073279 rs398124648
4 CALM2 p.Asp134His VAR_073280 rs398124650
5 CALM2 p.Gln136Pro VAR_073281 rs398124649
6 CALM2 p.Asp130Val VAR_078262
7 CALM2 p.Asn98Ser VAR_078543 rs398124647
8 CALM2 p.Asp130Gly VAR_078544 rs730882252

Expression for Long Qt Syndrome 15

Search GEO for disease gene expression data for Long Qt Syndrome 15.

Pathways for Long Qt Syndrome 15

Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SCN3B SCN1B CALM3 CALM2 CALM1
2
Show member pathways
12.91 SCN3B SCN1B CALM3 CALM2 CALM1
3
Show member pathways
12.52 CALM3 CALM2 CALM1
4
Show member pathways
12.46 TRDN CALM3 CALM2 CALM1
5
Show member pathways
12.43 CALM3 CALM2 CALM1
6
Show member pathways
12.42 CALM3 CALM2 CALM1
7
Show member pathways
12.41 CALM3 CALM2 CALM1
8
Show member pathways
12.39 CALM3 CALM2 CALM1
9
Show member pathways
12.34 CALM3 CALM2 CALM1
10
Show member pathways
12.34 CALM3 CALM2 CALM1
11
Show member pathways
12.32 CALM3 CALM2 CALM1
12
Show member pathways
12.32 CALM3 CALM2 CALM1
13
Show member pathways
12.31 CALM3 CALM2 CALM1
14
Show member pathways
12.3 CALM3 CALM2 CALM1
15
Show member pathways
12.3 SCN1B KCNE1 CALM3 CALM2 CALM1
16
Show member pathways
12.29 CALM3 CALM2 CALM1
17
Show member pathways
12.27 CALM3 CALM2 CALM1
18
Show member pathways
12.25 CALM3 CALM2 CALM1
19 12.25 KCNE1 CALM3 CALM2 CALM1
20 12.24 CALM3 CALM2 CALM1
21
Show member pathways
12.23 CALM3 CALM2 CALM1
22
Show member pathways
12.23 CALM3 CALM2 CALM1
23
Show member pathways
12.23 TRDN SCN3B SCN1B KCNE1 CALM3 CALM2
24
Show member pathways
12.22 CALM3 CALM2 CALM1
25
Show member pathways
12.22 CALM3 CALM2 CALM1
26
Show member pathways
12.17 CALM3 CALM2 CALM1
27
Show member pathways
12.17 TRDN CALM3 CALM2 CALM1
28
Show member pathways
12.16 CALM3 CALM2 CALM1
29 12.15 CALM3 CALM2 CALM1
30
Show member pathways
12.13 CALM3 CALM2 CALM1
31
Show member pathways
12.12 CALM3 CALM2 CALM1
32
Show member pathways
12.1 CALM3 CALM2 CALM1
33
Show member pathways
12.1 CALM3 CALM2 CALM1
34 12.08 CALM3 CALM2 CALM1
35
Show member pathways
12.08 CALM3 CALM2 CALM1
36
Show member pathways
12.07 CALM3 CALM2 CALM1
37 12.01 CALM3 CALM2 CALM1
38 12.01 CALM3 CALM2 CALM1
39
Show member pathways
11.96 CALM3 CALM2 CALM1
40
Show member pathways
11.95 CALM3 CALM2 CALM1
41
Show member pathways
11.93 CALM3 CALM2 CALM1
42
Show member pathways
11.91 CALM3 CALM2 CALM1
43 11.88 CALM3 CALM2 CALM1
44
Show member pathways
11.87 CALM3 CALM2 CALM1
45 11.85 CALM3 CALM2 CALM1
46 11.83 CALM3 CALM2 CALM1
47
Show member pathways
11.83 CALM3 CALM2 CALM1
48
Show member pathways
11.8 CALM3 CALM2 CALM1
49
Show member pathways
11.76 CALM3 CALM2 CALM1
50
Show member pathways
11.73 CALM3 CALM2 CALM1

GO Terms for Long Qt Syndrome 15

Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.06 TRDN SCN3B SCN1B KCNE1 CD2AP CALM3
2 protein-containing complex GO:0032991 9.81 CD2AP CALM3 CALM2 CALM1
3 spindle GO:0005819 9.67 CALM3 CALM2 CALM1
4 vesicle GO:0031982 9.65 CALM3 CALM2 CALM1
5 spindle pole GO:0000922 9.58 CALM3 CALM2 CALM1
6 voltage-gated potassium channel complex GO:0008076 9.54 KCNE1 CALM3 CALM2
7 sarcomere GO:0030017 9.5 CALM3 CALM2 CALM1
8 voltage-gated sodium channel complex GO:0001518 9.43 SCN3B SCN1B
9 spindle microtubule GO:0005876 9.43 CALM3 CALM2 CALM1
10 myelin sheath GO:0043209 9.33 CALM3 CALM2 CALM1
11 calcium channel complex GO:0034704 9.13 CALM3 CALM2 CALM1
12 catalytic complex GO:1902494 8.8 CALM3 CALM2 CALM1

Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.98 CALM3 CALM2 CALM1 ALPK3
2 regulation of ion transmembrane transport GO:0034765 9.83 SCN3B SCN1B KCNE1
3 calcium-mediated signaling GO:0019722 9.8 CALM3 CALM2 CALM1
4 response to calcium ion GO:0051592 9.79 CALM3 CALM2 CALM1
5 positive regulation of protein serine/threonine kinase activity GO:0071902 9.78 CALM3 CALM2 CALM1
6 cardiac conduction GO:0061337 9.77 SCN3B SCN1B KCNE1
7 substantia nigra development GO:0021762 9.77 CALM3 CALM2 CALM1
8 regulation of cytokinesis GO:0032465 9.76 CALM3 CALM2 CALM1
9 regulation of heart rate by cardiac conduction GO:0086091 9.75 SCN3B SCN1B KCNE1
10 regulation of heart rate GO:0002027 9.73 CALM3 CALM2 CALM1
11 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.72 CALM3 CALM2 CALM1
12 positive regulation of protein dephosphorylation GO:0035307 9.71 CALM3 CALM2 CALM1
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CALM3 CALM2 CALM1
14 cardiac muscle contraction GO:0060048 9.69 SCN3B SCN1B
15 activation of adenylate cyclase activity GO:0007190 9.69 CALM3 CALM1
16 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM3 CALM2 CALM1
17 response to amphetamine GO:0001975 9.68 CALM3 CALM1
18 positive regulation of DNA binding GO:0043388 9.68 CALM3 CALM2
19 positive regulation of nitric-oxide synthase activity GO:0051000 9.68 CALM3 CALM1
20 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 SCN1B KCNE1
21 membrane depolarization GO:0051899 9.67 SCN3B SCN1B
22 regulation of sodium ion transmembrane transporter activity GO:2000649 9.67 SCN3B SCN1B
23 regulation of cardiac muscle contraction GO:0055117 9.67 CALM3 CALM2 CALM1
24 response to corticosterone GO:0051412 9.66 CALM3 CALM1
25 ventricular cardiac muscle cell action potential GO:0086005 9.65 SCN3B KCNE1
26 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.65 CALM3 CALM1
27 positive regulation of sodium ion transport GO:0010765 9.65 SCN3B SCN1B
28 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.65 CALM3 CALM2 CALM1
29 regulation of synaptic vesicle endocytosis GO:1900242 9.64 CALM3 CALM1
30 establishment of protein localization to membrane GO:0090150 9.64 CALM3 CALM1
31 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.63 SCN3B SCN1B
32 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.63 SCN3B SCN1B
33 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 SCN3B SCN1B KCNE1
34 regulation of high voltage-gated calcium channel activity GO:1901841 9.62 CALM3 CALM1
35 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.61 CALM3 CALM2 CALM1
36 detection of calcium ion GO:0005513 9.58 CALM3 CALM2 CALM1
37 establishment of protein localization to mitochondrial membrane GO:0090151 9.57 CALM3 CALM1
38 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.54 CALM3 CALM2 CALM1
39 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.5 CALM3 CALM2 CALM1
40 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.46 TRDN CALM3 CALM2 CALM1
41 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.43 CALM3 CALM2 CALM1
42 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.26 TRDN CALM3 CALM2 CALM1
43 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 8.92 TRDN CALM3 CALM2 CALM1

Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 CALM3 CALM2 CALM1 ALPK3
2 protein domain specific binding GO:0019904 9.77 CALM3 CALM2 CALM1
3 disordered domain specific binding GO:0097718 9.63 CALM3 CALM2 CALM1
4 sodium channel regulator activity GO:0017080 9.58 SCN3B SCN1B
5 protein serine/threonine kinase activator activity GO:0043539 9.58 CALM3 CALM2 CALM1
6 sodium channel activity GO:0005272 9.57 SCN3B SCN1B
7 voltage-gated sodium channel activity GO:0005248 9.56 SCN3B SCN1B
8 phosphatidylinositol 3-kinase binding GO:0043548 9.55 CALM3 CALM1
9 nitric-oxide synthase binding GO:0050998 9.54 CALM3 CALM1
10 titin binding GO:0031432 9.54 CALM3 CALM2 CALM1
11 calcium channel inhibitor activity GO:0019855 9.52 CALM2 CALM1
12 nitric-oxide synthase regulator activity GO:0030235 9.51 CALM3 CALM1
13 adenylate cyclase binding GO:0008179 9.5 CALM3 CALM2 CALM1
14 sodium channel inhibitor activity GO:0019871 9.49 SCN3B SCN1B
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.48 SCN3B SCN1B
16 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM3 CALM1
17 protein phosphatase activator activity GO:0072542 9.43 CALM3 CALM2 CALM1
18 adenylate cyclase activator activity GO:0010856 9.33 CALM3 CALM2 CALM1
19 ion channel binding GO:0044325 9.17 TRDN SCN3B SCN1B KCNE1 CALM3 CALM2
20 N-terminal myristoylation domain binding GO:0031997 9.13 CALM3 CALM2 CALM1

Sources for Long Qt Syndrome 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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