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

LQT15 MCID: LNG096 MIFTS: 41	Long Qt Syndrome 15 (LQT15) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Lqt15 ⁵⁷ ¹² ⁷³

Long Qt Syndrome, Type 15 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset at birth or in early childhood

HPO:

³¹

long qt syndrome 15:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110656

OMIM® ⁵⁷ 616249

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴⁴ D008133

ICD10 ³² I45.8

MedGen ⁴¹ C4015695 CN228134

SNOMED-CT via HPO ⁶⁸ 263681008 397829000 410429000 more

UMLS ⁷¹ C4015695

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Summaries for Long Qt Syndrome 15

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and ventricular tachycardia, catecholaminergic polymorphic, 3. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. 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.

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.

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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
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 41)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 14	29.9	TRDN TECRL KCNJ2 CALM3 CALM1 CACNA1C
2	ventricular tachycardia, catecholaminergic polymorphic, 3	10.0	TECRL KCNJ2
3	brugada syndrome 4	10.0	KCNJ2 CACNA1C
4	long qt syndrome 10	9.9	KCNJ2 KCNE1
5	familial periodic paralysis	9.9	KCNJ2 CACNA1C
6	long qt syndrome 13	9.9	KCNJ2 KCNE1
7	ventricular fibrillation, paroxysmal familial, 1	9.9	KCNE1 CACNA1C
8	third-degree atrioventricular block	9.9	SCN1B KCNJ2
9	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.9	TRDN KCNJ2 CALM1
10	cardiac conduction defect	9.8	SCN1B CACNA1C
11	right bundle branch block	9.8	SCN1B CACNA1C
12	long qt syndrome 11	9.8	KCNJ2 KCNE1 CACNA1C
13	long qt syndrome 5	9.7	KCNJ2 KCNE1 CACNA1C
14	long qt syndrome 6	9.7	KCNJ2 KCNE1 CACNA1C
15	long qt syndrome 9	9.7	KCNJ2 KCNE1 CACNA1C
16	cardiac arrhythmia, ankyrin-b-related	9.7	KCNJ2 KCNE1 CACNA1C
17	short qt syndrome	9.7	KCNJ2 KCNE1 CACNA1C
18	jervell and lange-nielsen syndrome 1	9.7	KCNJ2 KCNE1 CACNA1C
19	intrinsic cardiomyopathy	9.7	KCNJ2 KCNE1 CACNA1C
20	paramyotonia congenita of von eulenburg	9.7	SCN1B KCNJ2
21	sinoatrial node disease	9.7	SCN1B KCNJ2 CACNA1C
22	cardiac arrest	9.7	TRDN CALM3 CALM1
23	atrial fibrillation	9.7	SCN1B KCNJ2 KCNE1
24	sick sinus syndrome	9.6	SCN1B CACNA1C
25	timothy syndrome	9.6	TRDN KCNJ2 KCNE1 CACNA1C
26	myasthenic syndrome, congenital, 5	9.6	TRDN KCNJ2 KCNE1 CACNA1C
27	hypokalemic periodic paralysis, type 1	9.6	TRDN KCNJ2 KCNE1 CACNA1C
28	congenital myasthenic syndrome	9.5	TRDN KCNJ2 KCNE1 CACNA1C
29	sudden infant death syndrome	9.5	SCN1B KCNJ2 KCNE1
30	familial long qt syndrome	9.5	KCNE1 CALM3 CALM2 CALM1
31	left ventricular noncompaction	9.4	SCN1B KCNJ2 KCNE1 CACNA1C
32	andersen cardiodysrhythmic periodic paralysis	9.3	TRDN TECRL KCNJ2 KCNE1 CACNA1C
33	long qt syndrome 3	9.2	TRDN SCN1B KCNJ2 KCNE1 CACNA1C
34	familial atrial fibrillation	9.2	TECRL SCN1B KCNJ2 KCNE1 CACNA1C
35	hypertrophic cardiomyopathy	9.2	KCNJ2 KCNE1 CALM3 CACNA1C
36	heart conduction disease	8.4	TRDN TECRL SCN1B KCNJ2 KCNE1 CALM3
37	long qt syndrome 2	8.4	TRDN TECRL SCN1B KCNJ2 KCNE1 CALM3
38	brugada syndrome	8.4	TRDN TECRL SCN1B KCNJ2 KCNE1 CALM3
39	long qt syndrome 1	8.2	TRDN TECRL SCN1B KCNJ2 KCNE1 CALM3
40	long qt syndrome	8.2	TRDN TECRL SCN1B KCNJ2 KCNE1 CALM3
41	catecholaminergic polymorphic ventricular tachycardia	8.2	TRDN TECRL SCN1B KCNJ2 KCNE1 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

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®:

⁵⁷ (Updated 05-Mar-2021)

Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
bradycardia (in some patients)
recurrent episodes of ventricular fibrillation
prolonged qtc interval on electrocardiogram (ecg)
more

Prenatal Manifestations:
fetal bradycardia (in some patients)

Clinical features from OMIM®:

616249 (Updated 05-Mar-2021)

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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:

⁴⁰

Heart

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Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

#	Title	Authors	PMID	Year
1	A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. ⁶ ⁵⁷	Limpitikul WB...Yue DT	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. ⁵⁷ ⁶	Boczek NJ...Ackerman MJ	26969752	2016
3	Novel calmodulin mutations associated with congenital arrhythmia susceptibility. ⁵⁷ ⁶	Makita N...George AL	24917665	2014
4	Calmodulin mutations associated with recurrent cardiac arrest in infants. ⁶ ⁵⁷	Crotti L...George AL	23388215	2013
5	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. ⁵⁷	Crotti L...Schwartz PJ	31170290	2019
6	Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. ⁶	Gomez-Hurtado N...Knollmann BC	27516456	2016
7	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. ⁵⁷	Tester DJ...Ackerman MJ	15840476	2005
8	Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. ⁶¹	Fujita S...Hatasaki K	31283864	2019
9	Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. ⁶¹	Yamamoto Y...Kimura T	28335032	2017

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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	PubMed IDs
1	CALM2	Calmodulin 2	Protein Coding	1349.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23388215 27516456
2	CALM1	Calmodulin 1	Protein Coding	6.59	DISEASES inferred ¹⁵
3	TRDN	Triadin	Protein Coding	5.94	DISEASES inferred ¹⁵
4	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	5.82	DISEASES inferred ¹⁵
5	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	5.74	DISEASES inferred ¹⁵
6	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	5.69	DISEASES inferred ¹⁵
7	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	5.62	DISEASES inferred ¹⁵
8	CALM3	Calmodulin 3	Protein Coding	5.58	DISEASES inferred ¹⁵
9	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	5.5	DISEASES inferred ¹⁵

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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.287A>T (p.Asp96Val)	SNV	Pathogenic	183233	rs730882254	2:47388996-47388996	2:47161857-47161857
2	CALM2	NM_001743.6(CALM2):c.400G>C (p.Asp134His)	SNV	Pathogenic	96723	rs398124650	2:47388883-47388883	2:47161744-47161744
3	CALM2	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	SNV	Pathogenic	96720	rs398124647	2:47388990-47388990	2:47161851-47161851
4	CALM2	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	SNV	Pathogenic	96721	rs398124647	2:47388990-47388990	2:47161851-47161851
5	CALM2	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	SNV	Pathogenic	96722	rs398124648	2:47388887-47388887	2:47161748-47161748
6	CALM2	NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	SNV	Pathogenic	96724	rs398124649	2:47388876-47388876	2:47161737-47161737
7	CALM2	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	SNV	Pathogenic	488476	rs1553431702	2:47388869-47388869	2:47161730-47161730
8	CALM2	NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)	SNV	Pathogenic	812710	rs1573214163	2:47388894-47388894	2:47161755-47161755
9	CALM2	NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	SNV	Likely pathogenic	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

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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 97)

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.43	SCN1B CALM3 CALM2 CALM1 CACNA1C
2	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.38	SCN1B CALM3 CALM2 CALM1 CACNA1C
3	DAG and IP3 signaling ⁶⁵ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²³ Ca-dependent events ⁶⁵ Calmodulin induced events ⁶⁵ CaM pathway ⁶⁵ Cam-PDE 1 activation ⁶⁵ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁵ Development Beta-adrenergic receptors signaling via cAMP ²³ Development Role of Activin A in cell differentiation and proliferation ²³ EGFR interacts with phospholipase C-gamma ⁶⁵ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁵ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²³ Neurophysiological process PGE2-induced pain processing ²³ Opioid Signalling ⁶⁵ PKA activation ⁶⁵ PKA activation in glucagon signalling ⁶⁵ PKA-mediated phosphorylation of CREB ⁶⁵ PLC beta mediated events ⁶⁵ PLC-gamma1 signalling ⁶⁵ Signal transduction Calcium signaling ²³	12.99	CALM3 CALM2 CALM1 CACNA1C
4	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	12.96	CALM3 CALM2 CALM1 CACNA1C
5	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.94	SCN1B CALM3 CALM2 CALM1 CACNA1C
6	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.91	KCNJ2 CALM3 CALM2 CALM1
7	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.83	CALM3 CALM2 CALM1 CACNA1C
8	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.82	CALM3 CALM2 CALM1 CACNA1C
9	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.8	CALM3 CALM2 CALM1 CACNA1C
10	NFAT and Cardiac Hypertrophy ⁶³ Show member pathways IGF1R Signaling ⁶³ Signaling Involved in Cardiac Hypertrophy ⁶³	12.78	CALM3 CALM2 CALM1 CACNA1C
11	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	12.75	CALM3 CALM2 CALM1 CACNA1C
12	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁴	12.68	KCNJ2 CALM3 CALM2 CALM1 CACNA1C
13	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁵ MET activates STAT3 ⁶⁵ Neurotrophin signaling pathway ³⁶ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.65	CALM3 CALM2 CALM1 CACNA1C
14	nNOS Signaling in Skeletal Muscle ⁶³ Show member pathways BMP Pathway ⁶³ Calpain Protease Regulates Cellular Mechanics ⁶³ Caspase Cascade ⁶³ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁵ DREAM Repression and Dynorphin Expression ⁶³ TOB in Osteoblast Signaling ⁶³	12.61	CALM3 CALM2 CALM1 CACNA1C
15	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	12.61	CALM3 CALM2 CALM1 CACNA1C
16	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.58	CALM3 CALM2 CALM1 CACNA1C
17	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²³	12.49	CALM3 CALM2 CALM1 CACNA1C
18	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.48	TRDN CALM3 CALM2 CALM1
19	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.48	CALM3 CALM2 CALM1 CACNA1C
20	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁶	12.43	CALM3 CALM2 CALM1
21	Salivary secretion ³⁶ Show member pathways Gastric acid secretion ³⁶ Pancreatic secretion ³⁶	12.39	KCNJ2 CALM3 CALM2 CALM1
22	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.37	CALM3 CALM2 CALM1
23	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²³ Glucagon signaling in metabolic regulation ⁶⁵ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁵ Passive transport by Aquaporins ⁶⁵ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁵ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁵	12.36	CALM3 CALM2 CALM1
24	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	12.35	CALM3 CALM2 CALM1
25	Presynaptic function of Kainate receptors ⁶⁵ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁵ Activation of Kainate Receptors upon glutamate binding ⁶⁵ Activation of Na-permeable Kainate Receptors ⁶⁵ Calcitonin-like ligand receptors ⁶⁵ Class B/2 (Secretin family receptors) ⁶⁵ G beta-gamma signalling through PLC beta ⁶⁵ Glucagon-type ligand receptors ⁶⁵ G-Protein Signaling through Tubby Protein ⁶³ Ionotropic activity of Kainate Receptors ⁶⁵	12.34	CALM3 CALM2 CALM1
26	Semaphorin interactions ⁶⁵ Show member pathways CRMPs in Sema3A signaling ⁶⁵ Other semaphorin interactions ⁶⁵ RHO GTPases activate CIT ⁶⁵ RHO GTPases activate PAKs ⁶⁵ RHO GTPases Activate ROCKs ⁶⁵ Sema3A PAK dependent Axon repulsion ⁶⁵ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁵ Sema4D in semaphorin signaling ⁶⁵ Sema4D induced cell migration and growth-cone collapse ⁶⁵ Sema4D mediated inhibition of cell attachment and migration ⁶⁵	12.34	CALM3 CALM2 CALM1
27	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.33	CALM3 CALM2 CALM1
28	RhoGDI Pathway ⁶³ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶³	12.32	CALM3 CALM2 CALM1
29	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.32	CALM3 CALM2 CALM1
30	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.31	KCNJ2 CALM3 CALM2 CALM1 CACNA1C
31	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.3	SCN1B KCNE1 CALM3 CALM2 CALM1 CACNA1C
32	Oocyte meiosis ³⁶ Show member pathways Progesterone-mediated oocyte maturation ³⁶	12.29	CALM3 CALM2 CALM1
33	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.29	TRDN SCN1B KCNJ2 KCNE1 CALM3 CALM2
34	Immune response CCR3 signaling in eosinophils ²³ Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²³	12.27	CALM3 CALM2 CALM1
35	cAMP signaling pathway ³⁶	12.27	CALM3 CALM2 CALM1 CACNA1C
36	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	12.26	CALM3 CALM2 CALM1
37	Development Ligand-independent activation of ESR1 and ESR2 ²³ Show member pathways Transcription CREB pathway ²³ Transcription PPAR Pathway ²³	12.26	CALM3 CALM2 CALM1 CACNA1C
38	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.24	CALM3 CALM2 CALM1
39	Platelet homeostasis ⁶⁵ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁵ Platelet calcium homeostasis ⁶⁵ Platelet sensitization by LDL ⁶⁵ Prostacyclin signalling through prostacyclin receptor ⁶⁵ Reduction of cytosolic Ca++ levels ⁶⁵	12.2	CALM3 CALM2 CALM1
40	Post NMDA receptor activation events ⁶⁵ Show member pathways Activation of CaMK IV ⁶⁵ Activation of NMDA receptor upon glutamate binding and postsynaptic events ⁶⁵ CaMK IV-mediated phosphorylation of CREB ⁶⁵ CREB phosphorylation through the activation of CaMKII ⁶⁵ CREB phosphorylation through the activation of CaMKK ⁶⁵ CREB phosphorylation through the activation of Ras ⁶⁵ Ras activation uopn Ca2+ infux through NMDA receptor ⁶⁵ RSK activation ⁶⁵ Unblocking of NMDA receptor, glutamate binding and activation ⁶⁵	12.18	CALM3 CALM2 CALM1
41	Calcium signaling pathway ³⁶	12.18	TRDN CALM3 CALM2 CALM1 CACNA1C
42	Tuberculosis ³⁶	12.17	CALM3 CALM2 CALM1
43	Actin Dynamics Signaling Pathway ⁶⁶	12.17	CALM3 CALM2 CALM1
44	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	12.15	CALM3 CALM2 CALM1
45	CD28 co-stimulation ⁶⁵ Show member pathways Activation of AKT2 ⁶⁵ CD28 dependent PI3K/Akt signaling ⁶⁵ CD28 dependent Vav1 pathway ⁶⁵ Costimulation by the CD28 family ⁶⁵ VEGFR2 mediated vascular permeability ⁶⁵	12.15	CALM3 CALM2 CALM1
46	ADP signalling through P2Y purinoceptor 1 ⁶⁵ Show member pathways Development Angiotensin signaling via beta-Arrestin ²³ Signal amplification ⁶⁵ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁵ Thromboxane signalling through TP receptor ⁶⁵	12.11	CALM3 CALM2 CALM1
47	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	12.1	CALM3 CALM2 CALM1
48	Cellular senescence (KEGG) ³⁶	12.09	CALM3 CALM2 CALM1
49	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	12.09	KCNJ2 KCNE1 CALM3 CALM2 CALM1 CACNA1C
50	Alzheimers Disease ¹	12.06	CALM3 CALM2 CALM1 CACNA1C

Sources

GO Terms for Long Qt Syndrome 15

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.06	TRDN SCN1B KCNJ2 KCNE1 CALM3 CALM2
2	spindle	GO:0005819	9.67	CALM3 CALM2 CALM1
3	vesicle	GO:0031982	9.65	CALM3 CALM2 CALM1
4	spindle pole	GO:0000922	9.61	CALM3 CALM2 CALM1
5	sarcomere	GO:0030017	9.58	CALM3 CALM2 CALM1
6	T-tubule	GO:0030315	9.54	SCN1B KCNJ2 CACNA1C
7	intercalated disc	GO:0014704	9.51	SCN1B KCNJ2
8	spindle microtubule	GO:0005876	9.5	CALM3 CALM2 CALM1
9	myelin sheath	GO:0043209	9.43	CALM3 CALM2 CALM1
10	calcium channel complex	GO:0034704	9.33	CALM3 CALM2 CALM1
11	catalytic complex	GO:1902494	9.13	CALM3 CALM2 CALM1
12	voltage-gated potassium channel complex	GO:0008076	9.02	KCNJ2 KCNE1 CALM3 CALM2 CALM1

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

(show all 44)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.99	SCN1B KCNJ2 KCNE1 CACNA1C
2	regulation of ion transmembrane transport	GO:0034765	9.89	SCN1B KCNJ2 KCNE1 CACNA1C
3	microtubule cytoskeleton organization	GO:0000226	9.85	CALM3 CALM2 CALM1
4	G2/M transition of mitotic cell cycle	GO:0000086	9.85	CALM3 CALM2 CALM1
5	calcium-mediated signaling	GO:0019722	9.82	CALM3 CALM2 CALM1
6	response to calcium ion	GO:0051592	9.81	CALM3 CALM2 CALM1
7	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.8	CALM3 CALM2 CALM1
8	substantia nigra development	GO:0021762	9.79	CALM3 CALM2 CALM1
9	regulation of cytokinesis	GO:0032465	9.79	CALM3 CALM2 CALM1
10	regulation of heart rate	GO:0002027	9.77	CALM3 CALM2 CALM1
11	positive regulation of DNA binding	GO:0043388	9.76	CALM3 CALM2 CALM1
12	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.75	CALM3 CALM2 CALM1
13	positive regulation of protein dephosphorylation	GO:0035307	9.74	CALM3 CALM2 CALM1
14	positive regulation of protein autophosphorylation	GO:0031954	9.73	CALM3 CALM2 CALM1
15	cardiac conduction	GO:0061337	9.73	SCN1B KCNJ2 KCNE1 CACNA1C
16	regulation of cardiac muscle contraction	GO:0055117	9.72	CALM3 CALM2 CALM1
17	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.71	CALM3 CALM2 CALM1
18	regulation of heart rate by cardiac conduction	GO:0086091	9.71	SCN1B KCNJ2 KCNE1 CACNA1C
19	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.7	CALM3 CALM2 CALM1
20	regulation of synaptic vesicle exocytosis	GO:2000300	9.69	CALM3 CALM1
21	activation of adenylate cyclase activity	GO:0007190	9.69	CALM3 CALM1
22	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.69	CALM3 CALM2 CALM1
23	response to amphetamine	GO:0001975	9.68	CALM3 CALM1
24	positive regulation of nitric-oxide synthase activity	GO:0051000	9.68	CALM3 CALM1
25	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.68	SCN1B KCNE1
26	response to corticosterone	GO:0051412	9.68	CALM3 CALM1
27	positive regulation of potassium ion transmembrane transport	GO:1901381	9.67	KCNJ2 KCNE1
28	detection of calcium ion	GO:0005513	9.67	CALM3 CALM2 CALM1
29	establishment of protein localization to membrane	GO:0090150	9.66	CALM3 CALM1
30	regulation of synaptic vesicle endocytosis	GO:1900242	9.66	CALM3 CALM1
31	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.65	KCNJ2 KCNE1
32	membrane repolarization during action potential	GO:0086011	9.65	KCNJ2 KCNE1
33	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.65	SCN1B KCNJ2 CACNA1C
34	regulation of high voltage-gated calcium channel activity	GO:1901841	9.64	CALM3 CALM1
35	negative regulation of high voltage-gated calcium channel activity	GO:1901842	9.64	CALM3 CALM1
36	regulation of cardiac muscle cell action potential	GO:0098901	9.63	CALM3 CALM1
37	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.63	CALM3 CALM2 CALM1
38	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.62	CALM3 CALM2 CALM1 CACNA1C
39	establishment of protein localization to mitochondrial membrane	GO:0090151	9.61	CALM3 CALM1
40	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.56	TRDN CALM3 CALM2 CALM1
41	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.54	CALM3 CALM2 CALM1
42	cardiac muscle cell action potential involved in contraction	GO:0086002	9.46	SCN1B KCNJ2 KCNE1 CACNA1C
43	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.26	TRDN CALM3 CALM2 CALM1
44	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	8.92	TRDN CALM3 CALM2 CALM1

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein domain specific binding	GO:0019904	9.74	CALM3 CALM2 CALM1
2	voltage-gated ion channel activity	GO:0005244	9.71	SCN1B KCNJ2 KCNE1 CACNA1C
3	disordered domain specific binding	GO:0097718	9.65	CALM3 CALM2 CALM1
4	protein serine/threonine kinase activator activity	GO:0043539	9.63	CALM3 CALM2 CALM1
5	enzyme regulator activity	GO:0030234	9.61	CALM3 CALM2 CALM1
6	phosphatidylinositol 3-kinase binding	GO:0043548	9.56	CALM3 CALM1
7	nitric-oxide synthase binding	GO:0050998	9.55	CALM3 CALM1
8	calcium channel inhibitor activity	GO:0019855	9.54	CALM2 CALM1
9	titin binding	GO:0031432	9.54	CALM3 CALM2 CALM1
10	nitric-oxide synthase regulator activity	GO:0030235	9.52	CALM3 CALM1
11	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.51	KCNJ2 KCNE1
12	adenylate cyclase binding	GO:0008179	9.5	CALM3 CALM2 CALM1
13	type 3 metabotropic glutamate receptor binding	GO:0031800	9.49	CALM3 CALM1
14	protein phosphatase activator activity	GO:0072542	9.43	CALM3 CALM2 CALM1
15	adenylate cyclase activator activity	GO:0010856	9.33	CALM3 CALM2 CALM1
16	N-terminal myristoylation domain binding	GO:0031997	9.13	CALM3 CALM2 CALM1
17	ion channel binding	GO:0044325	9.1	TRDN SCN1B KCNE1 CALM3 CALM2 CALM1

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

Human phenotypes related to Long Qt Syndrome 15:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Articles related to 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

ClinVar genetic disease variations for Long Qt Syndrome 15:

UniProtKB/Swiss-Prot 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