MCID: LNG096
MIFTS: 38

Long Qt Syndrome 15

Categories: Genetic diseases, Cardiovascular 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 75 29 6 15 73
Lqt15 57 12 75
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:

OMIM 57 616249
Disease Ontology 12 DOID:0110656
ICD10 33 I45.8
MeSH 44 D008133
UMLS 73 C4015695

Summaries for Long Qt Syndrome 15

UniProtKB/Swiss-Prot : 75 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 gestational choriocarcinoma and cardiac arrest. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Olfactory Signaling Pathway and DAG and IP3 signaling. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and cardiac arrest

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 22)
# Related Disease Score Top Affiliating Genes
1 gestational choriocarcinoma 9.3 CALM1 CALM3
2 cardiac arrest 9.2 CALM1 CALM3
3 acute dacryocystitis 9.1 CALM1 CALM2 CALM3
4 external ear disease 9.1 CALM1 CALM2 CALM3
5 otitis externa 9.1 CALM1 CALM2 CALM3
6 otomycosis 9.1 CALM1 CALM2 CALM3
7 spontaneous ocular nystagmus 9.1 CALM1 CALM2 CALM3
8 sporotrichosis 9.1 CALM1 CALM2 CALM3
9 deafness, autosomal recessive 44 9.1 CALM1 CALM2 CALM3
10 dystonia 24 9.1 CALM1 CALM2 CALM3
11 triosephosphate isomerase deficiency 9.1 CALM1 CALM2 CALM3
12 leber congenital amaurosis 2 9.0 CALM1 CALM2 CALM3
13 primary systemic mycosis 9.0 CALM1 CALM2 CALM3
14 clear cell acanthoma 9.0 CALM1 CALM2 CALM3
15 cardiomyopathy, dilated, 1a 9.0 CALM1 CALM2 CALM3
16 cardiomyopathy, dilated, 1p 9.0 CALM1 CALM2 CALM3
17 deafness, autosomal dominant 2a 8.9 CALM1 CALM2 CALM3
18 primary cutaneous amyloidosis 8.9 CALM1 CALM2 CALM3
19 catecholaminergic polymorphic ventricular tachycardia 8.9 CALM1 CALM2 CALM3
20 long qt syndrome 8.8 CALM1 CALM2 CALM3
21 long qt syndrome 1 8.4 CALM1 CALM2 CALM3 CD2AP
22 alzheimer disease 8.4 CALM1 CALM2 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
recurrent episodes of ventricular fibrillation
bradycardia (in some patients)
cardiac arrest (in some patients)
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

Human phenotypes related to Long Qt Syndrome 15:

32
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 32 HP:0001657
2 cardiac arrest 32 occasional (7.5%) HP:0001695
3 bradycardia 32 occasional (7.5%) HP:0001662

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 Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.62 CALM2 CALM3

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

Variations for Long Qt Syndrome 15

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

75
# 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 GRCh37 Chromosome 2, 47388883: 47388883
14 CALM2 NM_001743.5(CALM2): c.400G> A (p.Asp134Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs398124650 GRCh38 Chromosome 2, 47161744: 47161744
15 CALM2 NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 47388869: 47388869
16 CALM2 NM_001305625.1(CALM2): c.306C> G (p.Asn102Lys) single nucleotide variant Pathogenic 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 111)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 CALM1 CALM2 CALM3
2
Show member pathways
12.87 CALM1 CALM2 CALM3
3
Show member pathways
12.85 CALM1 CALM2 CALM3
4
Show member pathways
12.85 CALM1 CALM2 CALM3
5
Show member pathways
12.83 CALM1 CALM2 CALM3
6
Show member pathways
12.83 CALM1 CALM2 CALM3
7
Show member pathways
12.82 CALM1 CALM2 CALM3
8
Show member pathways
12.82 CALM1 CALM2 CALM3
9
Show member pathways
12.81 CALM1 CALM2 CALM3
10
Show member pathways
12.81 CALM1 CALM2 CALM3
11
Show member pathways
12.73 CALM1 CALM2 CALM3
12
Show member pathways
12.72 CALM1 CALM2 CALM3
13
Show member pathways
12.72 CALM1 CALM2 CALM3
14
Show member pathways
12.71 CALM1 CALM2 CALM3
15
Show member pathways
12.7 CALM1 CALM2 CALM3
16
Show member pathways
12.7 CALM1 CALM2 CALM3
17
Show member pathways
12.69 CALM1 CALM2 CALM3
18
Show member pathways
12.69 CALM1 CALM2 CALM3
19
Show member pathways
12.67 CALM1 CALM2 CALM3
20 12.67 CALM1 CALM2 CALM3
21
Show member pathways
12.66 CALM1 CALM2 CALM3
22
Show member pathways
12.63 CALM1 CALM2 CALM3
23
Show member pathways
12.61 CALM1 CALM2 CALM3
24
Show member pathways
12.58 CALM1 CALM2 CALM3
25
Show member pathways
12.58 CALM1 CALM2 CALM3
26
Show member pathways
12.58 CALM1 CALM2 CALM3
27
Show member pathways
12.57 CALM1 CALM2 CALM3
28
Show member pathways
12.55 CALM1 CALM2 CALM3
29
Show member pathways
12.53 CALM1 CALM2 CALM3
30
Show member pathways
12.52 CALM1 CALM2 CALM3
31
Show member pathways
12.52 CALM1 CALM2 CALM3
32
Show member pathways
12.51 CALM1 CALM2 CALM3
33
Show member pathways
12.47 CALM1 CALM2 CALM3
34
Show member pathways
12.46 CALM1 CALM2 CALM3
35
Show member pathways
12.44 CALM1 CALM2 CALM3
36
Show member pathways
12.44 CALM1 CALM2 CALM3
37
Show member pathways
12.42 CALM1 CALM2 CALM3
38
Show member pathways
12.41 CALM1 CALM2 CALM3
39
Show member pathways
12.41 CALM1 CALM2 CALM3
40
Show member pathways
12.39 CALM1 CALM2 CALM3
41
Show member pathways
12.37 CALM1 CALM2 CALM3
42
Show member pathways
12.32 CALM1 CALM2 CALM3
43
Show member pathways
12.32 CALM1 CALM2 CALM3
44
Show member pathways
12.3 CALM1 CALM2 CALM3
45
Show member pathways
12.3 CALM1 CALM2 CALM3
46
Show member pathways
12.29 CALM1 CALM2 CALM3
47
Show member pathways
12.28 CALM1 CALM2 CALM3
48
Show member pathways
12.27 CALM1 CALM2 CALM3
49 12.25 CALM1 CALM2 CALM3
50
Show member pathways
12.24 CALM1 CALM2 CALM3

GO Terms for Long Qt Syndrome 15

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 CALM1 CALM2 CALM3 CD2AP
2 cytoskeleton GO:0005856 9.73 CALM1 CALM2 CALM3 CD2AP
3 protein-containing complex GO:0032991 9.65 CALM1 CALM2 CALM3
4 centrosome GO:0005813 9.63 CALM1 CALM2 CALM3
5 spindle GO:0005819 9.58 CALM1 CALM2 CALM3
6 vesicle GO:0031982 9.54 CALM1 CALM2 CALM3
7 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
8 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
9 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
10 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
11 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.77 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
6 regulation of heart rate GO:0002027 9.73 CALM1 CALM2 CALM3
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.72 CALM1 CALM2 CALM3
8 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
9 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CALM1 CALM2 CALM3
11 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 CALM1 CALM2 CALM3
12 regulation of cardiac muscle contraction GO:0055117 9.65 CALM1 CALM2 CALM3
13 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
14 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
15 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.58 CALM1 CALM2 CALM3
16 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
17 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
18 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
19 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
20 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
21 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3

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 calcium ion binding GO:0005509 9.69 CALM1 CALM2 CALM3
2 kinase activity GO:0016301 9.67 CALM1 CALM2 CALM3
3 protein kinase binding GO:0019901 9.65 CALM1 CALM2 CALM3
4 protein domain specific binding GO:0019904 9.63 CALM1 CALM2 CALM3
5 ion channel binding GO:0044325 9.58 CALM1 CALM2 CALM3
6 disordered domain specific binding GO:0097718 9.54 CALM1 CALM2 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.5 CALM1 CALM2 CALM3
8 calcium channel inhibitor activity GO:0019855 9.43 CALM1 CALM2
9 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
10 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
11 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
12 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Long Qt Syndrome 15

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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