Long Qt Syndrome 15 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT15 MCID: LNG096 MIFTS: 40	Long Qt Syndrome 15 (LQT15) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 616249

Disease Ontology ¹² DOID:0110656

ICD10 ³³ I45.8

MedGen ⁴² C4015695 CN228134

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 48867003 71908006 more

UMLS ⁷³ C4015695

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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 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 Integrin Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include heart, and related phenotypes are cardiac arrest and ventricular fibrillation

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

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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 27)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 1	9.7	CALM1 CALM2 CALM3
2	long qt syndrome	9.7	CALM1 CALM2 CALM3
3	otomycosis	9.7	CALM1 CALM2 CALM3
4	external ear disease	9.7	CALM1 CALM2 CALM3
5	emery-dreifuss muscular dystrophy 5, autosomal dominant	9.7	CALM1 CALM2 CALM3
6	sporotrichosis	9.7	CALM1 CALM2 CALM3
7	otitis externa	9.7	CALM1 CALM2 CALM3
8	spontaneous ocular nystagmus	9.7	CALM1 CALM2 CALM3
9	deafness, autosomal recessive 44	9.7	CALM1 CALM2 CALM3
10	acute dacryocystitis	9.7	CALM1 CALM2 CALM3
11	dystonia 24	9.7	CALM1 CALM2 CALM3
12	gestational choriocarcinoma	9.7	CALM1 CALM2 CALM3
13	triosephosphate isomerase deficiency	9.7	CALM1 CALM2 CALM3
14	leber congenital amaurosis 2	9.7	CALM1 CALM2 CALM3
15	tinea unguium	9.7	CALM1 CALM2 CALM3
16	primary systemic mycosis	9.7	CALM1 CALM2 CALM3
17	clear cell acanthoma	9.7	CALM1 CALM2 CALM3
18	cardiomyopathy, dilated, 1a	9.6	CALM1 CALM2 CALM3
19	cardiomyopathy, dilated, 1p	9.6	CALM1 CALM2 CALM3
20	phaeohyphomycosis	9.6	CALM1 CALM2 CALM3
21	deafness, autosomal dominant 2a	9.6	CALM1 CALM2 CALM3
22	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	9.6	CALM1 CALM2 CALM3
23	ceroid lipofuscinosis, neuronal, 11	9.6	CALM1 CALM2 CALM3
24	primary cutaneous amyloidosis	9.6	CALM1 CALM2 CALM3
25	catecholaminergic polymorphic ventricular tachycardia	9.6	CALM1 CALM2 CALM3
26	cardiac arrest	9.5	CALM1 CALM2 CALM3
27	alzheimer disease	9.4	CALM1 CALM2 CALM3

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

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Symptoms & Phenotypes for Long Qt Syndrome 15

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

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	ventricular fibrillation ³²		HP:0001663
3	bradycardia ³²	occasional (7.5%)	HP:0001662
4	prolonged qtc interval ³²		HP:0005184

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	8.96	CALM2 CALM3
2	Reduced mammosphere formation	GR00396-S	8.8	CALM1 CALM2 CALM3

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Drugs & Therapeutics for Long Qt Syndrome 15

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

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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

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Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

⁴¹

Heart

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Publications for Long Qt Syndrome 15

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Genes for Long Qt Syndrome 15

Genes related to Long Qt Syndrome 15 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CALM2	Calmodulin 2	Protein Coding	1333.44	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23388215 20301308 24917665
2	CALM3	Calmodulin 3	Protein Coding	14.88	DISEASES inferred ¹⁵
3	CALM1	Calmodulin 1	Protein Coding	14.88	DISEASES inferred ¹⁵

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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	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		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

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Expression for Long Qt Syndrome 15

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

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Pathways for Long Qt Syndrome 15

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

(show top 50) (show all 129)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.12	CALM1 CALM2 CALM3
2	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	13.11	CALM1 CALM2 CALM3
3	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.09	CALM1 CALM2 CALM3
4	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	13.08	CALM1 CALM2 CALM3
5	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.06	CALM1 CALM2 CALM3
6	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.05	CALM1 CALM2 CALM3
7	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.02	CALM1 CALM2 CALM3
8	IL-2 Pathway ⁶⁴ Show member pathways ErbB Family Pathway ⁶⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-4 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ Prolactin Signaling ⁶⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	12.96	CALM1 CALM2 CALM3
9	Olfactory transduction ³⁷ Show member pathways Olfactory Signaling Pathway ⁶⁶	12.92	CALM1 CALM2 CALM3
10	DAG and IP3 signaling ⁶⁶ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²² Ca-dependent events ⁶⁶ Calmodulin induced events ⁶⁶ CaM pathway ⁶⁶ Cam-PDE 1 activation ⁶⁶ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁶ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² EGFR interacts with phospholipase C-gamma ⁶⁶ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁶ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Neurophysiological process PGE2-induced pain processing ²² Opioid Signalling ⁶⁶ PKA activation ⁶⁶ PKA activation in glucagon signalling ⁶⁶ PKA-mediated phosphorylation of CREB ⁶⁶ PLC beta mediated events ⁶⁶ PLC-gamma1 signalling ⁶⁶ Signal transduction Calcium signaling ²²	12.88	CALM1 CALM2 CALM3
11	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.86	CALM1 CALM2 CALM3
12	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.86	CALM1 CALM2 CALM3
13	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.85	CALM1 CALM2 CALM3
14	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	12.83	CALM1 CALM2 CALM3
15	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.83	CALM1 CALM2 CALM3
16	fMLP Pathway ⁶⁴ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ CCR3 Pathway in Eosinophils ⁶⁴ CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶⁴	12.82	CALM1 CALM2 CALM3
17	Signaling by Rho GTPases ⁶⁶ Show member pathways RHO GTPase Effectors ⁶⁶	12.82	CALM1 CALM2 CALM3
18	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.82	CALM1 CALM2 CALM3
19	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.79	CALM1 CALM2 CALM3
20	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.75	CALM1 CALM2 CALM3
21	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.74	CALM1 CALM2 CALM3
22	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.73	CALM1 CALM2 CALM3
23	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.73	CALM1 CALM2 CALM3
24	Signaling by Wnt ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.72	CALM1 CALM2 CALM3
25	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.71	CALM1 CALM2 CALM3
26	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.7	CALM1 CALM2 CALM3
27	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	12.7	CALM1 CALM2 CALM3
28	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.69	CALM1 CALM2 CALM3
29	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.68	CALM1 CALM2 CALM3
30	Pathways in cancer ³⁷	12.67	CALM1 CALM2 CALM3
31	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.67	CALM1 CALM2 CALM3
32	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Insulin secretion ³⁷ Thyroid hormone synthesis ³⁷	12.62	CALM1 CALM2 CALM3
33	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.62	CALM1 CALM2 CALM3
34	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.59	CALM1 CALM2 CALM3
35	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.58	CALM1 CALM2 CALM3
36	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.58	CALM1 CALM2 CALM3
37	Development HGF signaling pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development Neurotrophin family signaling ²² MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ Neurotrophin signaling pathway ³⁷ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.57	CALM1 CALM2 CALM3
38	NF-KappaB Family Pathway ⁶⁴ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁴	12.56	CALM1 CALM2 CALM3
39	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.53	CALM1 CALM2 CALM3
40	superpathway of inositol phosphate compounds ¹ Show member pathways 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) ¹ 1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3) ¹ 3-phosphoinositide biosynthesis ¹ 3-phosphoinositide degradation ¹ D-myo-inositol (1,3,4)-trisphosphate biosynthesis ¹ D-myo-inositol (1,4,5)-trisphosphate biosynthesis ¹ D-myo-inositol (1,4,5)-trisphosphate degradation ¹ D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis ¹ D-myo-inositol-5-phosphate metabolism ¹ Inositol phosphate metabolism ³⁷ Phosphatidylinositol signaling system ³⁷ superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism ¹	12.53	CALM1 CALM2 CALM3
41	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ Thrombin Signaling ⁶⁴	12.52	CALM1 CALM2 CALM3
42	Glucose metabolism ⁶⁶ Show member pathways gluconeogenesis ¹ Gluconeogenesis ⁶⁶ glycogen biosynthesis ¹ Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen storage disease type 0 (liver GYS2) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage disease type IV (GBE1) ⁶⁶ Glycogen synthesis ⁶⁶ glycolysis ¹ Glycolysis ⁶⁶ Glycolysis / Gluconeogenesis ³⁷ Glycolysis and Gluconeogenesis ¹ Glycolysis and gluconeogenesis (short map) ²² Lysosomal glycogen catabolism ⁶⁶ malate-aspartate shuttle ¹	12.51	CALM1 CALM2 CALM3
43	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.49	CALM1 CALM2 CALM3
44	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.47	CALM1 CALM2 CALM3
45	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.46	CALM1 CALM2 CALM3
46	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.44	CALM1 CALM2 CALM3
47	ADP signalling through P2Y purinoceptor 12 ⁶⁶ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶¹ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ G alpha (z) signalling events ⁶⁶ G-protein activation ⁶⁶ Signal transduction cAMP signaling ²²	12.42	CALM1 CALM2 CALM3
48	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.42	CALM1 CALM2 CALM3
49	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.41	CALM1 CALM2 CALM3
50	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.4	CALM1 CALM2 CALM3

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GO Terms for Long Qt Syndrome 15

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.72	CALM1 CALM2 CALM3
2	protein-containing complex	GO:0032991	9.65	CALM1 CALM2 CALM3
3	centrosome	GO:0005813	9.63	CALM1 CALM2 CALM3
4	spindle	GO:0005819	9.61	CALM1 CALM2 CALM3
5	vesicle	GO:0031982	9.58	CALM1 CALM2 CALM3
6	mitochondrial membrane	GO:0031966	9.54	CALM1 CALM3
7	myelin sheath	GO:0043209	9.54	CALM1 CALM2 CALM3
8	growth cone	GO:0030426	9.52	CALM1 CALM3
9	voltage-gated potassium channel complex	GO:0008076	9.51	CALM2 CALM3
10	spindle pole	GO:0000922	9.5	CALM1 CALM2 CALM3
11	synaptic vesicle membrane	GO:0030672	9.49	CALM1 CALM3
12	sarcomere	GO:0030017	9.43	CALM1 CALM2 CALM3
13	spindle microtubule	GO:0005876	9.33	CALM1 CALM2 CALM3
14	calcium channel complex	GO:0034704	9.13	CALM1 CALM2 CALM3
15	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 34)

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor signaling pathway	GO:0007186	9.84	CALM1 CALM2 CALM3
2	phosphorylation	GO:0016310	9.83	CALM1 CALM2 CALM3
3	calcium-mediated signaling	GO:0019722	9.77	CALM1 CALM2 CALM3
4	response to calcium ion	GO:0051592	9.76	CALM1 CALM2 CALM3
5	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.75	CALM1 CALM2 CALM3
6	substantia nigra development	GO:0021762	9.74	CALM1 CALM2 CALM3
7	regulation of cytokinesis	GO:0032465	9.73	CALM1 CALM2 CALM3
8	regulation of heart rate	GO:0002027	9.72	CALM1 CALM2 CALM3
9	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.71	CALM1 CALM2 CALM3
10	positive regulation of protein dephosphorylation	GO:0035307	9.7	CALM1 CALM2 CALM3
11	positive regulation of protein autophosphorylation	GO:0031954	9.69	CALM1 CALM2 CALM3
12	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.67	CALM1 CALM2 CALM3
13	G2/M transition of mitotic cell cycle	GO:0000086	9.66	CALM2 CALM3
14	regulation of synaptic vesicle exocytosis	GO:2000300	9.65	CALM1 CALM3
15	response to amphetamine	GO:0001975	9.65	CALM1 CALM3
16	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.65	CALM1 CALM2 CALM3
17	activation of adenylate cyclase activity	GO:0007190	9.64	CALM1 CALM3
18	positive regulation of DNA binding	GO:0043388	9.64	CALM2 CALM3
19	positive regulation of nitric-oxide synthase activity	GO:0051000	9.63	CALM1 CALM3
20	response to corticosterone	GO:0051412	9.63	CALM1 CALM3
21	regulation of cardiac muscle contraction	GO:0055117	9.63	CALM1 CALM2 CALM3
22	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.62	CALM1 CALM3
23	regulation of synaptic vesicle endocytosis	GO:1900242	9.62	CALM1 CALM3
24	establishment of protein localization to membrane	GO:0090150	9.61	CALM1 CALM3
25	regulation of high voltage-gated calcium channel activity	GO:1901841	9.61	CALM1 CALM3
26	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.61	CALM1 CALM2 CALM3
27	establishment of protein localization to mitochondrial membrane	GO:0090151	9.59	CALM1 CALM3
28	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.58	CALM1 CALM2 CALM3
29	detection of calcium ion	GO:0005513	9.54	CALM1 CALM2 CALM3
30	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.5	CALM1 CALM2 CALM3
31	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.43	CALM1 CALM2 CALM3
32	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.33	CALM1 CALM2 CALM3
33	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.13	CALM1 CALM2 CALM3
34	positive regulation by host of symbiont cAMP-mediated signal transduction	GO:0075206	8.8	CALM1 CALM2 CALM3

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	calcium ion binding	GO:0005509	9.76	CALM1 CALM2 CALM3
2	kinase activity	GO:0016301	9.75	CALM1 CALM2 CALM3
3	protein kinase binding	GO:0019901	9.73	CALM1 CALM2 CALM3
4	protein domain specific binding	GO:0019904	9.7	CALM1 CALM2 CALM3
5	ion channel binding	GO:0044325	9.63	CALM1 CALM2 CALM3
6	protein N-terminus binding	GO:0047485	9.59	CALM1 CALM3
7	disordered domain specific binding	GO:0097718	9.58	CALM1 CALM2 CALM3
8	calcium-dependent protein binding	GO:0048306	9.57	CALM1 CALM3
9	enzyme regulator activity	GO:0030234	9.55	CALM1 CALM3
10	phosphatidylinositol 3-kinase binding	GO:0043548	9.54	CALM1 CALM3
11	protein serine/threonine kinase activator activity	GO:0043539	9.54	CALM1 CALM2 CALM3
12	nitric-oxide synthase binding	GO:0050998	9.51	CALM1 CALM3
13	titin binding	GO:0031432	9.5	CALM1 CALM2 CALM3
14	calcium channel inhibitor activity	GO:0019855	9.49	CALM1 CALM2
15	nitric-oxide synthase regulator activity	GO:0030235	9.48	CALM1 CALM3
16	type 3 metabotropic glutamate receptor binding	GO:0031800	9.43	CALM1 CALM3
17	adenylate cyclase binding	GO:0008179	9.43	CALM1 CALM2 CALM3
18	protein phosphatase activator activity	GO:0072542	9.33	CALM1 CALM2 CALM3
19	adenylate cyclase activator activity	GO:0010856	9.13	CALM1 CALM2 CALM3
20	N-terminal myristoylation domain binding	GO:0031997	8.8	CALM1 CALM2 CALM3

Sources

Sources for Long Qt Syndrome 15

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Long Qt Syndrome 15 (LQT15)

Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 15

Related Diseases for Long Qt Syndrome 15

Diseases in the Long Qt Syndrome family:

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

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

Symptoms & Phenotypes for Long Qt Syndrome 15

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Long Qt Syndrome 15:

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

Drugs & Therapeutics for Long Qt Syndrome 15

Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

Anatomical Context for Long Qt Syndrome 15

MalaCards organs/tissues related to Long Qt Syndrome 15:

Publications for Long Qt Syndrome 15

Genes for Long Qt Syndrome 15

Genes related to Long Qt Syndrome 15 (1 elite genes):

Variations for Long Qt Syndrome 15

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

ClinVar genetic disease variations for Long Qt Syndrome 15:

Expression for Long Qt Syndrome 15

Pathways for Long Qt Syndrome 15

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

GO Terms for Long Qt Syndrome 15

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

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

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

Sources for Long Qt Syndrome 15