LQT15
MCID: LNG096
MIFTS: 38

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 57 12 74 29 6 15 72
Lqt15 57 12 74
Long Qt Syndrome, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood


HPO:

32
long qt syndrome 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110656
MeSH 44 D008133
ICD10 33 I45.8
UMLS 72 C4015695

Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : 74 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 long qt syndrome 1 and long qt syndrome. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and B Cell Receptor Signaling Pathway (sino). 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 26)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 1 9.7 CALM2 CALM1
2 long qt syndrome 9.7 CALM2 CALM1
3 external ear disease 9.7 CALM2 CALM1
4 otomycosis 9.7 CALM2 CALM1
5 otitis externa 9.7 CALM2 CALM1
6 sporotrichosis 9.7 CALM2 CALM1
7 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM2 CALM1
8 spontaneous ocular nystagmus 9.7 CALM2 CALM1
9 deafness, autosomal recessive 44 9.7 CALM2 CALM1
10 acute dacryocystitis 9.7 CALM2 CALM1
11 dystonia 24 9.7 CALM2 CALM1
12 gestational choriocarcinoma 9.7 CALM2 CALM1
13 triosephosphate isomerase deficiency 9.7 CALM2 CALM1
14 tinea unguium 9.6 CALM2 CALM1
15 leber congenital amaurosis 2 9.6 CALM2 CALM1
16 clear cell acanthoma 9.6 CALM2 CALM1
17 primary systemic mycosis 9.6 CALM2 CALM1
18 cardiomyopathy, dilated, 1p 9.6 CALM2 CALM1
19 cardiomyopathy, dilated, 1a 9.6 CALM2 CALM1
20 phaeohyphomycosis 9.5 CALM2 CALM1
21 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.5 CALM2 CALM1
22 deafness, autosomal dominant 2a 9.5 CALM2 CALM1
23 ceroid lipofuscinosis, neuronal, 11 9.4 CALM2 CALM1
24 primary cutaneous amyloidosis 9.4 CALM2 CALM1
25 catecholaminergic polymorphic ventricular tachycardia 9.3 CALM2 CALM1
26 cardiac arrest 9.1 CALM2 CALM1

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:

32
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 32 occasional (7.5%) HP:0001695
2 bradycardia 32 occasional (7.5%) HP:0001662
3 prolonged qtc interval 32 HP:0005184
4 ventricular fibrillation 32 HP:0001663

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.36 CALM2
2 Decreased viability GR00221-A-1 9.36 CALM2
3 Decreased viability GR00221-A-2 9.36 CALM1 CALM2
4 Decreased viability GR00221-A-3 9.36 CALM1
5 Decreased viability GR00221-A-4 9.36 CALM1 CALM2
6 Decreased viability GR00301-A 9.36 CALM1 CALM2
7 Decreased viability GR00402-S-2 9.36 CALM1 CALM2

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:

41
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. 8 71
24917665 2014
2
Calmodulin mutations associated with recurrent cardiac arrest in infants. 8 71
23388215 2013
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
4
Long QT Syndrome 71
20301308 2003
5
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. 38
31283864 2019
6
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. 38
28335032 2017

Variations for Long Qt Syndrome 15

ClinVar genetic disease variations for Long Qt Syndrome 15:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CALM2 NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys) single nucleotide variant Pathogenic rs1553431702 2:47388869-47388869 2:47161730-47161730
2 CALM2 NM_001305625.1(CALM2): c.179A> T (p.Asp60Val) single nucleotide variant Pathogenic rs730882254 2:47388996-47388996 2:47161857-47161857
3 CALM2 NM_001305625.1(CALM2): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 2:47388990-47388990 2:47161851-47161851
4 CALM2 NM_001305625.1(CALM2): c.185A> T (p.Asn62Ile) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 2:47388990-47388990 2:47161851-47161851
5 CALM2 NM_001305625.1(CALM2): c.288T> G (p.Asp96Glu) single nucleotide variant Pathogenic/Likely pathogenic rs398124648 2:47388887-47388887 2:47161748-47161748
6 CALM2 NM_001305625.1(CALM2): c.292G> C (p.Asp98His) single nucleotide variant Pathogenic/Likely pathogenic rs398124650 2:47388883-47388883 2:47161744-47161744
7 CALM2 NM_001305625.1(CALM2): c.299A> C (p.Gln100Pro) single nucleotide variant Pathogenic/Likely pathogenic rs398124649 2:47388876-47388876 2:47161737-47161737
8 CALM2 NM_001305625.1(CALM2): c.292G> A (p.Asp98Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124650 2:47388883-47388883 2:47161744-47161744

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

74
# 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 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.06 CALM2 CALM1
2
Show member pathways
12.06 CALM2 CALM1
3 12.06 CALM2 CALM1
4
Show member pathways
12.05 CALM2 CALM1
5
Show member pathways
12.01 CALM2 CALM1
6
Show member pathways
12 CALM2 CALM1
7
Show member pathways
11.98 CALM2 CALM1
8 11.96 CALM2 CALM1
9
Show member pathways
11.95 CALM2 CALM1
10
Show member pathways
11.95 CALM2 CALM1
11
Show member pathways
11.93 CALM2 CALM1
12
Show member pathways
11.92 CALM2 CALM1
13 11.9 CALM2 CALM1
14
Show member pathways
11.9 CALM2 CALM1
15
Show member pathways
11.9 CALM2 CALM1
16
Show member pathways
11.89 CALM2 CALM1
17
Show member pathways
11.86 CALM2 CALM1
18 11.83 CALM2 CALM1
19 11.82 CALM2 CALM1
20
Show member pathways
11.76 CALM2 CALM1
21
Show member pathways
11.74 CALM2 CALM1
22
Show member pathways
11.72 CALM2 CALM1
23
Show member pathways
11.69 CALM2 CALM1
24 11.68 CALM2 CALM1
25 11.66 CALM2 CALM1
26 11.65 CALM2 CALM1
27
Show member pathways
11.64 CALM2 CALM1
28
Show member pathways
11.61 CALM2 CALM1
29
Show member pathways
11.54 CALM2 CALM1
30 11.52 CALM2 CALM1
31
Show member pathways
11.51 CALM2 CALM1
32
Show member pathways
11.5 CALM2 CALM1
33 11.49 CALM2 CALM1
34 11.45 CALM2 CALM1
35
Show member pathways
11.44 CALM2 CALM1
36 11.42 CALM2 CALM1
37 11.39 CALM2 CALM1
38
Show member pathways
11.38 CALM2 CALM1
39 11.32 CALM2 CALM1
40 11.31 CALM2 CALM1
41 11.29 CALM2 CALM1
42 11.27 CALM2 CALM1
43 11.19 CALM2 CALM1
44 11.14 CALM2 CALM1
45 11.11 CALM2 CALM1
46 11.1 CALM2 CALM1
47 11.08 CALM2 CALM1
48 11.06 CALM2 CALM1
49 11.03 CALM2 CALM1
50 11.03 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 cytoskeleton GO:0005856 9.63 CD2AP CALM2 CALM1
2 spindle GO:0005819 9.48 CALM2 CALM1
3 vesicle GO:0031982 9.43 CALM2 CALM1
4 protein-containing complex GO:0032991 9.43 CD2AP CALM2 CALM1
5 myelin sheath GO:0043209 9.4 CALM2 CALM1
6 spindle pole GO:0000922 9.37 CALM2 CALM1
7 sarcomere GO:0030017 9.32 CALM2 CALM1
8 spindle microtubule GO:0005876 9.16 CALM2 CALM1
9 calcium channel complex GO:0034704 8.96 CALM2 CALM1
10 catalytic complex GO:1902494 8.62 CALM2 CALM1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.59 CALM2 CALM1
2 response to calcium ion GO:0051592 9.58 CALM2 CALM1
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.58 CALM2 CALM1
4 substantia nigra development GO:0021762 9.57 CALM2 CALM1
5 regulation of cytokinesis GO:0032465 9.56 CALM2 CALM1
6 regulation of heart rate GO:0002027 9.55 CALM2 CALM1
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.54 CALM2 CALM1
8 positive regulation of protein dephosphorylation GO:0035307 9.52 CALM2 CALM1
9 positive regulation of protein autophosphorylation GO:0031954 9.51 CALM2 CALM1
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.49 CALM2 CALM1
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.48 CALM2 CALM1
12 regulation of cardiac muscle contraction GO:0055117 9.46 CALM2 CALM1
13 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.43 CALM2 CALM1
14 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.4 CALM2 CALM1
15 detection of calcium ion GO:0005513 9.37 CALM2 CALM1
16 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.32 CALM2 CALM1
17 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.26 CALM2 CALM1
18 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.16 CALM2 CALM1
19 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 8.96 CALM2 CALM1
20 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.62 CALM2 CALM1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.46 CALM2 CALM1
2 disordered domain specific binding GO:0097718 9.43 CALM2 CALM1
3 protein serine/threonine kinase activator activity GO:0043539 9.4 CALM2 CALM1
4 titin binding GO:0031432 9.37 CALM2 CALM1
5 adenylate cyclase binding GO:0008179 9.32 CALM2 CALM1
6 calcium channel inhibitor activity GO:0019855 9.26 CALM2 CALM1
7 protein phosphatase activator activity GO:0072542 9.16 CALM2 CALM1
8 adenylate cyclase activator activity GO:0010856 8.96 CALM2 CALM1
9 N-terminal myristoylation domain binding GO:0031997 8.62 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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