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 58 12 76 30 6 15 74
Lqt15 58 12 76
Long Qt Syndrome, Type 15 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood


HPO:

33
long qt syndrome 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110656
OMIM 58 616249
MeSH 45 D008133
ICD10 34 I45.8
UMLS 74 C4015695

Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : 76 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 Immune response Fc epsilon RI pathway and Development Dopamine D2 receptor transactivation of EGFR. 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.

Description from OMIM: 616249

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

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 9.9 CALM1 CALM2
2 long qt syndrome 9.9 CALM1 CALM2
3 otomycosis 9.9 CALM1 CALM2
4 external ear disease 9.9 CALM1 CALM2
5 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 CALM1 CALM2
6 sporotrichosis 9.9 CALM1 CALM2
7 otitis externa 9.9 CALM1 CALM2
8 spontaneous ocular nystagmus 9.9 CALM1 CALM2
9 deafness, autosomal recessive 44 9.9 CALM1 CALM2
10 acute dacryocystitis 9.9 CALM1 CALM2
11 dystonia 24 9.9 CALM1 CALM2
12 gestational choriocarcinoma 9.8 CALM1 CALM2
13 triosephosphate isomerase deficiency 9.8 CALM1 CALM2
14 leber congenital amaurosis 2 9.8 CALM1 CALM2
15 tinea unguium 9.8 CALM1 CALM2
16 primary systemic mycosis 9.8 CALM1 CALM2
17 clear cell acanthoma 9.8 CALM1 CALM2
18 cardiomyopathy, dilated, 1a 9.8 CALM1 CALM2
19 cardiomyopathy, dilated, 1p 9.8 CALM1 CALM2
20 phaeohyphomycosis 9.8 CALM1 CALM2
21 deafness, autosomal dominant 2a 9.8 CALM1 CALM2
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.7 CALM1 CALM2
23 ceroid lipofuscinosis, neuronal, 11 9.7 CALM1 CALM2
24 primary cutaneous amyloidosis 9.7 CALM1 CALM2
25 catecholaminergic polymorphic ventricular tachycardia 9.6 CALM1 CALM2
26 cardiac arrest 9.5 CALM1 CALM2

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:

33
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 33 occasional (7.5%) HP:0001695
2 bradycardia 33 occasional (7.5%) HP:0001662
3 ventricular fibrillation 33 HP:0001663
4 prolonged qtc interval 33 HP:0005184

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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 30 CALM2

Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

42
Heart

Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

# Title Authors Year
1
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. ( 24917665 )
2014
2
Calmodulin mutations associated with recurrent cardiac arrest in infants. ( 23388215 )
2013

Variations for Long Qt Syndrome 15

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

76
# 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

ClinVar genetic disease variations for Long Qt Syndrome 15:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CALM2 NM_001743.5(CALM2): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
2 CALM2 NM_001743.5(CALM2): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh38 Chromosome 2, 47161851: 47161851
3 CALM2 NM_001743.5(CALM2): c.293A> T (p.Asn98Ile) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh37 Chromosome 2, 47388990: 47388990
4 CALM2 NM_001743.5(CALM2): c.293A> T (p.Asn98Ile) single nucleotide variant Pathogenic/Likely pathogenic rs398124647 GRCh38 Chromosome 2, 47161851: 47161851
5 CALM2 NM_001743.5(CALM2): c.396T> G (p.Asp132Glu) single nucleotide variant Pathogenic/Likely pathogenic rs398124648 GRCh37 Chromosome 2, 47388887: 47388887
6 CALM2 NM_001743.5(CALM2): c.396T> G (p.Asp132Glu) single nucleotide variant Pathogenic/Likely pathogenic rs398124648 GRCh38 Chromosome 2, 47161748: 47161748
7 CALM2 NM_001743.5(CALM2): c.400G> C (p.Asp134His) single nucleotide variant Pathogenic/Likely pathogenic rs398124650 GRCh37 Chromosome 2, 47388883: 47388883
8 CALM2 NM_001743.5(CALM2): c.400G> C (p.Asp134His) single nucleotide variant Pathogenic/Likely pathogenic rs398124650 GRCh38 Chromosome 2, 47161744: 47161744
9 CALM2 NM_001743.5(CALM2): c.407A> C (p.Gln136Pro) single nucleotide variant Pathogenic/Likely pathogenic rs398124649 GRCh37 Chromosome 2, 47388876: 47388876
10 CALM2 NM_001743.5(CALM2): c.407A> C (p.Gln136Pro) single nucleotide variant Pathogenic/Likely pathogenic rs398124649 GRCh38 Chromosome 2, 47161737: 47161737
11 CALM2 NM_001305625.1(CALM2): c.179A> T (p.Asp60Val) single nucleotide variant Pathogenic rs730882254 GRCh37 Chromosome 2, 47388996: 47388996
12 CALM2 NM_001305625.1(CALM2): c.179A> T (p.Asp60Val) single nucleotide variant Pathogenic rs730882254 GRCh38 Chromosome 2, 47161857: 47161857
13 CALM2 NM_001743.5(CALM2): c.400G> A (p.Asp134Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124650 GRCh38 Chromosome 2, 47161744: 47161744
14 CALM2 NM_001743.5(CALM2): c.400G> A (p.Asp134Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124650 GRCh37 Chromosome 2, 47388883: 47388883
15 CALM2 NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys) single nucleotide variant Pathogenic rs1553431702 GRCh37 Chromosome 2, 47388869: 47388869
16 CALM2 NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys) single nucleotide variant Pathogenic rs1553431702 GRCh38 Chromosome 2, 47161730: 47161730

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 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 CALM1 CALM2
2
Show member pathways
12.28 CALM1 CALM2
3
Show member pathways
12.28 CALM1 CALM2
4
Show member pathways
12.26 CALM1 CALM2
5
Show member pathways
12.25 CALM1 CALM2
6
Show member pathways
12.24 CALM1 CALM2
7
Show member pathways
12.23 CALM1 CALM2
8
Show member pathways
12.21 CALM1 CALM2
9
Show member pathways
12.16 CALM1 CALM2
10
Show member pathways
12.16 CALM1 CALM2
11
Show member pathways
12.14 CALM1 CALM2
12
Show member pathways
12.14 CALM1 CALM2
13
Show member pathways
12.12 CALM1 CALM2
14
Show member pathways
12.12 CALM1 CALM2
15
Show member pathways
12.11 CALM1 CALM2
16 12.09 CALM1 CALM2
17
Show member pathways
12.08 CALM1 CALM2
18
Show member pathways
12.07 CALM1 CALM2
19
Show member pathways
12.06 CALM1 CALM2
20
Show member pathways
12.06 CALM1 CALM2
21
Show member pathways
12.05 CALM1 CALM2
22 12.05 CALM1 CALM2
23
Show member pathways
12.04 CALM1 CALM2
24
Show member pathways
12 CALM1 CALM2
25
Show member pathways
12 CALM1 CALM2
26
Show member pathways
11.98 CALM1 CALM2
27 11.96 CALM1 CALM2
28
Show member pathways
11.95 CALM1 CALM2
29
Show member pathways
11.95 CALM1 CALM2
30
Show member pathways
11.93 CALM1 CALM2
31
Show member pathways
11.92 CALM1 CALM2
32
Show member pathways
11.9 CALM1 CALM2
33 11.9 CALM1 CALM2
34
Show member pathways
11.9 CALM1 CALM2
35
Show member pathways
11.89 CALM1 CALM2
36
Show member pathways
11.86 CALM1 CALM2
37 11.83 CALM1 CALM2
38 11.82 CALM1 CALM2
39
Show member pathways
11.77 CALM1 CALM2
40
Show member pathways
11.76 CALM1 CALM2
41
Show member pathways
11.74 CALM1 CALM2
42
Show member pathways
11.72 CALM1 CALM2
43
Show member pathways
11.69 CALM1 CALM2
44 11.67 CALM1 CALM2
45 11.66 CALM1 CALM2
46 11.64 CALM1 CALM2
47
Show member pathways
11.64 CALM1 CALM2
48
Show member pathways
11.61 CALM1 CALM2
49
Show member pathways
11.6 CALM1 CALM2
50
Show member pathways
11.54 CALM1 CALM2

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 spindle GO:0005819 9.43 CALM1 CALM2
2 vesicle GO:0031982 9.4 CALM1 CALM2
3 myelin sheath GO:0043209 9.37 CALM1 CALM2
4 spindle pole GO:0000922 9.32 CALM1 CALM2
5 sarcomere GO:0030017 9.26 CALM1 CALM2
6 spindle microtubule GO:0005876 9.16 CALM1 CALM2
7 calcium channel complex GO:0034704 8.96 CALM1 CALM2
8 catalytic complex GO:1902494 8.62 CALM1 CALM2

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

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.48 CALM1 CALM2
2 ion channel binding GO:0044325 9.46 CALM1 CALM2
3 disordered domain specific binding GO:0097718 9.43 CALM1 CALM2
4 protein serine/threonine kinase activator activity GO:0043539 9.4 CALM1 CALM2
5 titin binding GO:0031432 9.37 CALM1 CALM2
6 adenylate cyclase binding GO:0008179 9.32 CALM1 CALM2
7 calcium channel inhibitor activity GO:0019855 9.26 CALM1 CALM2
8 protein phosphatase activator activity GO:0072542 9.16 CALM1 CALM2
9 adenylate cyclase activator activity GO:0010856 8.96 CALM1 CALM2
10 N-terminal myristoylation domain binding GO:0031997 8.62 CALM1 CALM2

Sources for Long Qt Syndrome 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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