LQT15
MCID: LNG096
MIFTS: 41

Long Qt Syndrome 15 (LQT15)

Categories: Blood diseases, Cardiovascular diseases, Ear 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

OMIM : 56 LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14 (616247), LQT15, or LQT16 (618782), resulting from mutation in calmodulin genes CALM1 (114180), CALM2, or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). (616249)

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and cardiac arrhythmia. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Circadian entrainment. Affiliated tissues include heart and testes, 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.

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.

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 Long Qt Syndrome 16
Familial Long Qt Syndrome

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 14 30.7 TECRL KCNJ2 KCNE1 CALM1 CACNA1C
2 cardiac arrhythmia 10.1 KCNJ2 CACNA1C
3 brugada syndrome 4 10.0 KCNJ2 CACNA1C
4 myasthenic syndrome, congenital, 20, presynaptic 9.9 KCNJ2 CD2AP
5 long qt syndrome 13 9.9 KCNJ2 KCNE1
6 familial periodic paralysis 9.9 KCNJ2 CACNA1C
7 long qt syndrome 12 9.9 KCNJ2 KCNE1
8 long qt syndrome 10 9.9 KCNJ2 KCNE1
9 ventricular fibrillation, paroxysmal familial, 1 9.9 KCNE1 CACNA1C
10 ventricular tachycardia, catecholaminergic polymorphic, 3 9.7 TECRL KCNJ2 CD2AP
11 familial long qt syndrome 9.7 KCNJ2 KCNE1 CACNA1C
12 long qt syndrome 6 9.7 KCNJ2 KCNE1 CACNA1C
13 long qt syndrome 11 9.7 KCNJ2 KCNE1 CACNA1C
14 long qt syndrome 5 9.7 KCNJ2 KCNE1 CACNA1C
15 long qt syndrome 9 9.7 KCNJ2 KCNE1 CACNA1C
16 jervell and lange-nielsen syndrome 1 9.7 KCNJ2 KCNE1 CACNA1C
17 cardiac arrhythmia, ankyrin-b-related 9.7 KCNJ2 KCNE1 CACNA1C
18 capillary malformations, congenital 9.7 TRDN CD2AP
19 hypokalemic periodic paralysis, type 1 9.7 KCNJ2 KCNE1 CACNA1C
20 neuromuscular junction disease 9.5 CD2AP CACNA1C
21 paramyotonia congenita of von eulenburg 9.5 SCN1B KCNJ2
22 right bundle branch block 9.5 SCN1B CACNA1C
23 cardiac arrest 9.5 TRDN TECRL CALM2 CALM1
24 sinoatrial node disease 9.5 SCN1B KCNJ2 CACNA1C
25 sick sinus syndrome 9.4 SCN1B KCNJ2 CACNA1C
26 timothy syndrome 9.3 KCNJ2 KCNE1 CD2AP CACNA1C
27 intrinsic cardiomyopathy 9.3 KCNJ2 KCNE1 CD2AP CACNA1C
28 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 TRDN KCNJ2 CD2AP CALM1
29 left ventricular noncompaction 9.3 KCNJ2 KCNE1 CD2AP CACNA1C
30 congenital myasthenic syndrome 9.2 KCNJ2 KCNE1 CD2AP CACNA1C
31 atrial fibrillation 9.1 SCN1B KCNJ2 KCNE1 CACNA1C
32 long qt syndrome 3 9.1 SCN1B KCNJ2 KCNE1 CACNA1C
33 andersen cardiodysrhythmic periodic paralysis 9.0 TRDN TECRL KCNJ2 KCNE1 CACNA1C
34 myasthenic syndrome, congenital, 5 8.9 TRDN KCNJ2 KCNE1 CD2AP CACNA1C
35 short qt syndrome 8.8 TECRL SCN1B KCNJ2 KCNE1 CACNA1C
36 heart conduction disease 8.6 TRDN SCN1B KCNJ2 KCNE1 CACNA1C
37 familial atrial fibrillation 8.4 TECRL SCN1B KCNJ2 KCNE1 CD2AP CACNA1C
38 long qt syndrome 2 8.4 TRDN TECRL KCNJ2 KCNE1 CD2AP CALM1
39 long qt syndrome 7.9 TRDN TECRL SCN1B KCNJ2 KCNE1 CALM2
40 catecholaminergic polymorphic ventricular tachycardia 7.5 TRDN TECRL SCN1B KCNJ2 KCNE1 CD2AP
41 brugada syndrome 7.5 TRDN TECRL SCN1B KCNJ2 KCNE1 CD2AP
42 long qt syndrome 1 7.5 TRDN TECRL SCN1B KCNJ2 KCNE1 CD2AP

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 ventricular fibrillation 31 HP:0001663
4 prolonged qtc interval 31 HP:0005184

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, Testes

Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

(show all 11)
# Title Authors PMID Year
1
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. 56 6
27765793 2017
2
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 56 6
26969752 2016
3
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. 56 6
24917665 2014
4
Calmodulin mutations associated with recurrent cardiac arrest in infants. 56 6
23388215 2013
5
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 56
31170290 2019
6
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 6
27516456 2016
7
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
8
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 56
15840476 2005
9
Long QT Syndrome 6
20301308 2003
10
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. 61
31283864 2019
11
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.414C>G (p.Asn138Lys)SNV Pathogenic 488476 rs1553431702 2:47388869-47388869 2:47161730-47161730
2 CALM2 NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)SNV Pathogenic 812710 2:47388894-47388894 2:47161755-47161755
3 CALM2 NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)SNV Pathogenic 96722 rs398124648 2:47388887-47388887 2:47161748-47161748
4 CALM2 NM_001743.6(CALM2):c.287A>T (p.Asp96Val)SNV Pathogenic 183233 rs730882254 2:47388996-47388996 2:47161857-47161857
5 CALM2 NM_001743.6(CALM2):c.400G>C (p.Asp134His)SNV Pathogenic/Likely pathogenic 96723 rs398124650 2:47388883-47388883 2:47161744-47161744
6 CALM2 NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)SNV Pathogenic/Likely pathogenic 96724 rs398124649 2:47388876-47388876 2:47161737-47161737
7 CALM2 NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)SNV Pathogenic/Likely pathogenic 96720 rs398124647 2:47388990-47388990 2:47161851-47161851
8 CALM2 NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)SNV Pathogenic/Likely pathogenic 96721 rs398124647 2:47388990-47388990 2:47161851-47161851
9 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 all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 SCN1B CALM2 CALM1 CACNA1C
2
Show member pathways
12.51 KCNJ2 CALM2 CALM1 CACNA1C
3
Show member pathways
12.45 CALM2 CALM1 CACNA1C
4
Show member pathways
12.36 CALM2 CALM1 CACNA1C
5
Show member pathways
12.35 TRDN CALM2 CALM1
6
Show member pathways
12.34 CALM2 CALM1 CACNA1C
7
Show member pathways
12.27 SCN1B KCNE1 CALM2 CALM1 CACNA1C
8
Show member pathways
12.23 TRDN SCN1B KCNJ2 KCNE1 CALM2 CALM1
9
Show member pathways
12.19 KCNJ2 CALM2 CALM1 CACNA1C
10 12.14 CALM2 CALM1 CACNA1C
11
Show member pathways
12.11 CALM2 CALM1 CACNA1C
12 12.08 KCNJ2 KCNE1 CALM2 CALM1 CACNA1C
13
Show member pathways
12.01 TRDN CALM2 CALM1 CACNA1C
14
Show member pathways
11.98 KCNJ2 CALM2 CALM1
15 11.9 CALM2 CALM1 CACNA1C
16
Show member pathways
11.77 CALM2 CALM1 CACNA1C
17
Show member pathways
11.74 CALM2 CALM1 CACNA1C
18
Show member pathways
11.69 CALM2 CALM1 CACNA1C
19
Show member pathways
11.68 CALM2 CALM1
20
Show member pathways
11.6 CD2AP CALM2 CALM1
21 11.4 KCNJ2 CALM2 CALM1 CACNA1C
22 11.39 CALM2 CALM1
23 11.29 CALM2 CALM1
24 11.23 CALM2 CALM1
25 11.21 CALM2 CALM1
26 11.21 CALM2 CALM1
27 11.2 SCN1B KCNJ2 KCNE1 CACNA1C
28 11.19 CALM2 CALM1
29 11.18 CALM2 CALM1
30 11.16 CALM2 CALM1
31 11.13 CALM2 CALM1
32 11.12 CALM2 CALM1
33 11.09 CALM2 CALM1
34 11.08 CALM2 CALM1
35 11.07 CALM2 CALM1
36 11 CALM2 CALM1
37 10.93 CALM2 CALM1
38
Show member pathways
10.9 SCN1B KCNE1 CALM2 CALM1 CACNA1C
39 10.85 KCNJ2 KCNE1
40 10.85 CALM2 CALM1
41 10.84 CALM2 CALM1
42 10.64 CALM2 CALM1

GO Terms for Long Qt Syndrome 15

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.92 TRDN SCN1B KCNJ2 KCNE1 CD2AP CALM2
2 cell GO:0005623 9.65 TRDN KCNJ2 CALM2 CALM1 CACNA1C
3 intercalated disc GO:0014704 9.46 SCN1B KCNJ2
4 spindle microtubule GO:0005876 9.43 CALM2 CALM1
5 myelin sheath GO:0043209 9.4 CALM2 CALM1
6 calcium channel complex GO:0034704 9.37 CALM2 CALM1
7 catalytic complex GO:1902494 9.16 CALM2 CALM1
8 T-tubule GO:0030315 9.13 SCN1B KCNJ2 CACNA1C
9 voltage-gated potassium channel complex GO:0008076 8.92 KCNJ2 KCNE1 CALM2 CALM1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SCN1B KCNJ2 KCNE1 CACNA1C
2 regulation of ion transmembrane transport GO:0034765 9.76 SCN1B KCNJ2 KCNE1 CACNA1C
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.64 CALM2 CALM1
4 substantia nigra development GO:0021762 9.63 CALM2 CALM1
5 regulation of cytokinesis GO:0032465 9.63 CALM2 CALM1
6 regulation of heart rate GO:0002027 9.62 CALM2 CALM1
7 positive regulation of DNA binding GO:0043388 9.62 CALM2 CALM1
8 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.61 CALM2 CALM1
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.61 CALM2 CALM1 CACNA1C
10 positive regulation of protein dephosphorylation GO:0035307 9.6 CALM2 CALM1
11 positive regulation of protein autophosphorylation GO:0031954 9.59 CALM2 CALM1
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.58 SCN1B KCNE1
13 regulation of cardiac muscle contraction GO:0055117 9.58 CALM2 CALM1
14 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 TRDN CALM2 CALM1
15 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.57 CALM2 CALM1
16 positive regulation of potassium ion transmembrane transport GO:1901381 9.56 KCNJ2 KCNE1
17 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.55 CALM2 CALM1
18 detection of calcium ion GO:0005513 9.54 CALM2 CALM1
19 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.54 SCN1B KCNJ2 CACNA1C
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.52 KCNJ2 KCNE1
21 membrane repolarization during action potential GO:0086011 9.51 KCNJ2 KCNE1
22 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 TRDN CALM2 CALM1
23 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.49 CALM2 CALM1
24 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.48 CALM2 CALM1
25 cardiac conduction GO:0061337 9.46 SCN1B KCNJ2 KCNE1 CACNA1C
26 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 TRDN CALM2 CALM1
27 regulation of heart rate by cardiac conduction GO:0086091 9.26 SCN1B KCNJ2 KCNE1 CACNA1C
28 cardiac muscle cell action potential involved in contraction GO:0086002 8.92 SCN1B KCNJ2 KCNE1 CACNA1C

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.51 CALM2 CALM1
2 protein serine/threonine kinase activator activity GO:0043539 9.49 CALM2 CALM1
3 enzyme regulator activity GO:0030234 9.48 CALM2 CALM1
4 titin binding GO:0031432 9.46 CALM2 CALM1
5 adenylate cyclase binding GO:0008179 9.43 CALM2 CALM1
6 calcium channel inhibitor activity GO:0019855 9.4 CALM2 CALM1
7 protein phosphatase activator activity GO:0072542 9.37 CALM2 CALM1
8 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.32 KCNJ2 KCNE1
9 adenylate cyclase activator activity GO:0010856 9.26 CALM2 CALM1
10 voltage-gated ion channel activity GO:0005244 9.26 SCN1B KCNJ2 KCNE1 CACNA1C
11 N-terminal myristoylation domain binding GO:0031997 9.16 CALM2 CALM1
12 ion channel binding GO:0044325 9.02 TRDN SCN1B KCNE1 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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