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

LQT15 MCID: LNG096 MIFTS: 39	Long Qt Syndrome 15 (LQT15) Categories: Blood diseases, Cardiovascular diseases, Genetic 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 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Lqt15 ⁵⁶ ¹² ⁷³

Long Qt Syndrome, Type 15 ³⁹

Characteristics:

OMIM:

⁵⁶

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 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 ⁵⁶ 616249

OMIM Phenotypic Series ⁵⁶ PS192500

MeSH ⁴³ 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

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.

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to sinoatrial node disease and right bundle branch block. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Affiliated tissues include heart, and related phenotypes are cardiac arrest and bradycardia

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

More information from OMIM: 616249 PS192500

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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	Familial Long Qt Syndrome

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

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	sinoatrial node disease	10.0	SCN3B SCN1B
2	right bundle branch block	9.9	SCN3B SCN1B
3	andersen cardiodysrhythmic periodic paralysis	9.8	TRDN KCNE1
4	sick sinus syndrome	9.8	SCN3B SCN1B
5	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.7	TRDN CD2AP CALM1
6	hypokalemic periodic paralysis, type 1	9.7	TRDN KCNE1
7	cardiac arrest	9.7	TRDN CALM3 CALM1
8	timothy syndrome	9.7	KCNE1 CD2AP
9	long qt syndrome 3	9.6	SCN3B SCN1B KCNE1
10	short qt syndrome	9.6	SCN3B SCN1B KCNE1
11	familial atrial fibrillation	9.6	SCN3B SCN1B KCNE1
12	atrial fibrillation	9.5	SCN3B SCN1B KCNE1
13	myasthenic syndrome, congenital, 5	9.4	KCNE1 CD2AP
14	heart conduction disease	9.3	TRDN SCN3B SCN1B KCNE1
15	long qt syndrome 14	9.0	TRDN SCN1B KCNE1 CALM3 CALM1
16	long qt syndrome 2	8.9	TRDN SCN3B SCN1B KCNE1 CD2AP
17	long qt syndrome	8.8	TRDN SCN1B KCNE1 CALM3 CALM2 CALM1
18	brugada syndrome	8.7	TRDN SCN3B SCN1B KCNE1 CD2AP CALM2
19	catecholaminergic polymorphic ventricular tachycardia	8.0	TRDN SCN3B SCN1B KCNE1 CD2AP CALM3
20	long qt syndrome 1	8.0	TRDN SCN3B SCN1B KCNE1 CD2AP 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	prolonged qtc interval ³¹		HP:0005184
4	ventricular fibrillation ³¹		HP:0001663

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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	Novel calmodulin mutations associated with congenital arrhythmia susceptibility. ⁵⁶ ⁶	Makita N...George AL	24917665	2014
2	Calmodulin mutations associated with recurrent cardiac arrest in infants. ⁵⁶ ⁶	Crotti L...George AL	23388215	2013
3	Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ⁶	Priori SG...Asia Pacific Heart Rhythm Society	23994779	2013
4	Long QT Syndrome ⁶	Alders M...Christiaans I	20301308	2003
5	Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. ⁶¹	Fujita S...Hatasaki K	31283864	2019
6	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	PubmedIds
1	CALM2	Calmodulin 2	Protein Coding	1325.59	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301308 24917665 23388215
2	CALM1	Calmodulin 1	Protein Coding	6.62	DISEASES inferred ¹⁵
3	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	5.82	DISEASES inferred ¹⁵
4	TRDN	Triadin	Protein Coding	5.51	DISEASES inferred ¹⁵
5	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	5.48	DISEASES inferred ¹⁵
6	CALM3	Calmodulin 3	Protein Coding	5.43	DISEASES inferred ¹⁵
7	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	5.39	DISEASES inferred ¹⁵
8	ALPK3	Alpha Kinase 3	Protein Coding	5.37	DISEASES inferred ¹⁵
9	CD2AP	CD2 Associated Protein	Protein Coding	5.29	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.396T>G (p.Asp132Glu)	SNV	Pathogenic	96722	rs398124648	2:47388887-47388887	2:47161748-47161748
2	CALM2	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	SNV	Pathogenic	183233	rs730882254	2:47388996-47388996	2:47161857-47161857
3	CALM2	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	SNV	Pathogenic	488476	rs1553431702	2:47388869-47388869	2:47161730-47161730
4	CALM2	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	SNV	Pathogenic/Likely pathogenic	96720	rs398124647	2:47388990-47388990	2:47161851-47161851
5	CALM2	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	SNV	Pathogenic/Likely pathogenic	96721	rs398124647	2:47388990-47388990	2:47161851-47161851
6	CALM2	NM_001743.6(CALM2):c.400G>C (p.Asp134His)	SNV	Pathogenic/Likely pathogenic	96723	rs398124650	2:47388883-47388883	2:47161744-47161744
7	CALM2	NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	SNV	Pathogenic/Likely pathogenic	96724	rs398124649	2:47388876-47388876	2:47161737-47161737
8	CALM2	NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	SNV	Conflicting interpretations of pathogenicity	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 82)

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.36	SCN3B SCN1B CALM3 CALM2 CALM1
2	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	12.91	SCN3B SCN1B CALM3 CALM2 CALM1
3	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 ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.52	CALM3 CALM2 CALM1
4	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	12.46	TRDN CALM3 CALM2 CALM1
5	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 ²²	12.43	CALM3 CALM2 CALM1
6	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.42	CALM3 CALM2 CALM1
7	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 ³⁶	12.41	CALM3 CALM2 CALM1
8	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.39	CALM3 CALM2 CALM1
9	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² 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	12.34	CALM3 CALM2 CALM1
10	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	12.34	CALM3 CALM2 CALM1
11	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	12.32	CALM3 CALM2 CALM1
12	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	12.32	CALM3 CALM2 CALM1
13	B cell receptor signaling pathway (KEGG) ¹ Show member pathways B cell receptor signaling pathway ³⁶ B Cell Receptor Signaling Pathway ¹	12.31	CALM3 CALM2 CALM1
14	RhoGDI Pathway ⁶³ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶³	12.3	CALM3 CALM2 CALM1
15	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.3	SCN1B KCNE1 CALM3 CALM2 CALM1
16	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.29	CALM3 CALM2 CALM1
17	Oocyte meiosis ³⁶ Show member pathways Progesterone-mediated oocyte maturation ³⁶	12.27	CALM3 CALM2 CALM1
18	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.25	CALM3 CALM2 CALM1
19	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	12.25	KCNE1 CALM3 CALM2 CALM1
20	cAMP signaling pathway ³⁶	12.24	CALM3 CALM2 CALM1
21	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	12.23	CALM3 CALM2 CALM1
22	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.23	CALM3 CALM2 CALM1
23	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	12.23	TRDN SCN3B SCN1B KCNE1 CALM3 CALM2
24	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.22	CALM3 CALM2 CALM1
25	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.22	CALM3 CALM2 CALM1
26	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	12.17	CALM3 CALM2 CALM1
27	Calcium signaling pathway ³⁶ Show member pathways Oxytocin signaling ¹	12.17	TRDN CALM3 CALM2 CALM1
28	Post NMDA receptor activation events ⁶⁵ Show member pathways Activation of AMPA receptors ⁶⁵ 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	12.16	CALM3 CALM2 CALM1
29	Tuberculosis ³⁶	12.15	CALM3 CALM2 CALM1
30	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	12.13	CALM3 CALM2 CALM1
31	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	12.12	CALM3 CALM2 CALM1
32	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹ Dopamine D1-Like Receptor Family Signaling Pathways ⁶⁴	12.1	CALM3 CALM2 CALM1
33	Salivary secretion ³⁶ Show member pathways Gastric acid secretion ³⁶	12.1	CALM3 CALM2 CALM1
34	Cellular senescence (KEGG) ³⁶	12.08	CALM3 CALM2 CALM1
35	ADP signalling through P2Y purinoceptor 1 ⁶⁵ Show member pathways Development Angiotensin signaling via beta-Arrestin ²² Signal amplification ⁶⁵ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁵ Thromboxane signalling through TP receptor ⁶⁵	12.08	CALM3 CALM2 CALM1
36	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	12.07	CALM3 CALM2 CALM1
37	Fluid shear stress and atherosclerosis ³⁶	12.01	CALM3 CALM2 CALM1
38	Apelin signaling pathway ³⁶	12.01	CALM3 CALM2 CALM1
39	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.96	CALM3 CALM2 CALM1
40	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.95	CALM3 CALM2 CALM1
41	Amphetamine addiction ³⁶ Show member pathways Cocaine addiction ³⁶	11.93	CALM3 CALM2 CALM1
42	Inositol phosphate metabolism ⁶⁵ Show member pathways D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis ¹ D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis ¹ inositol pyrophosphates biosynthesis ¹ myo-inositol de novo biosynthesis ¹ Synthesis of IP2, IP, and Ins in the cytosol ⁶⁵ Synthesis of IP3 and IP4 in the cytosol ⁶⁵ Synthesis of IPs in the nucleus ⁶⁵ Synthesis of pyrophosphates in the cytosol ⁶⁵	11.91	CALM3 CALM2 CALM1
43	Glucagon signaling pathway ³⁶	11.88	CALM3 CALM2 CALM1
44	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁵ Show member pathways B-Cell Receptor Complex ⁶³ CD22 mediated BCR regulation ⁶⁵ CLEC7A (Dectin-1) induces NFAT activation ⁶⁵ FCERI mediated Ca+2 mobilization ⁶⁵	11.87	CALM3 CALM2 CALM1
45	ErbB1 downstream signaling ¹	11.85	CALM3 CALM2 CALM1
46	Visual Cycle in Retinal Rods ⁶³	11.83	CALM3 CALM2 CALM1
47	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.83	CALM3 CALM2 CALM1
48	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁵	11.8	CALM3 CALM2 CALM1
49	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.76	CALM3 CALM2 CALM1
50	Uptake and actions of bacterial toxins ⁶⁵ Show member pathways Intestinal infectious diseases ⁶⁵ Neurotoxicity of clostridium toxins ⁶⁵ Toxicity of botulinum toxin type A (BoNT/A) ⁶⁵ Toxicity of botulinum toxin type B (BoNT/B) ⁶⁵ Toxicity of botulinum toxin type C (BoNT/C) ⁶⁵ Toxicity of botulinum toxin type E (BoNT/E) ⁶⁵ Toxicity of botulinum toxin type G (BoNT/G) ⁶⁵ Toxicity of tetanus toxin (TeNT) ⁶⁵ Uptake and function of anthrax toxins ⁶⁵ Uptake and function of diphtheria toxin ⁶⁵	11.73	CALM3 CALM2 CALM1

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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 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.06	TRDN SCN3B SCN1B KCNE1 CD2AP CALM3
2	protein-containing complex	GO:0032991	9.81	CD2AP CALM3 CALM2 CALM1
3	spindle	GO:0005819	9.67	CALM3 CALM2 CALM1
4	vesicle	GO:0031982	9.65	CALM3 CALM2 CALM1
5	spindle pole	GO:0000922	9.58	CALM3 CALM2 CALM1
6	voltage-gated potassium channel complex	GO:0008076	9.54	KCNE1 CALM3 CALM2
7	sarcomere	GO:0030017	9.5	CALM3 CALM2 CALM1
8	voltage-gated sodium channel complex	GO:0001518	9.43	SCN3B SCN1B
9	spindle microtubule	GO:0005876	9.43	CALM3 CALM2 CALM1
10	myelin sheath	GO:0043209	9.33	CALM3 CALM2 CALM1
11	calcium channel complex	GO:0034704	9.13	CALM3 CALM2 CALM1
12	catalytic complex	GO:1902494	8.8	CALM3 CALM2 CALM1

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

(show all 43)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.98	CALM3 CALM2 CALM1 ALPK3
2	regulation of ion transmembrane transport	GO:0034765	9.83	SCN3B SCN1B KCNE1
3	calcium-mediated signaling	GO:0019722	9.8	CALM3 CALM2 CALM1
4	response to calcium ion	GO:0051592	9.79	CALM3 CALM2 CALM1
5	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.78	CALM3 CALM2 CALM1
6	cardiac conduction	GO:0061337	9.77	SCN3B SCN1B KCNE1
7	substantia nigra development	GO:0021762	9.77	CALM3 CALM2 CALM1
8	regulation of cytokinesis	GO:0032465	9.76	CALM3 CALM2 CALM1
9	regulation of heart rate by cardiac conduction	GO:0086091	9.75	SCN3B SCN1B KCNE1
10	regulation of heart rate	GO:0002027	9.73	CALM3 CALM2 CALM1
11	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	9.72	CALM3 CALM2 CALM1
12	positive regulation of protein dephosphorylation	GO:0035307	9.71	CALM3 CALM2 CALM1
13	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.7	CALM3 CALM2 CALM1
14	cardiac muscle contraction	GO:0060048	9.69	SCN3B SCN1B
15	activation of adenylate cyclase activity	GO:0007190	9.69	CALM3 CALM1
16	positive regulation of protein autophosphorylation	GO:0031954	9.69	CALM3 CALM2 CALM1
17	response to amphetamine	GO:0001975	9.68	CALM3 CALM1
18	positive regulation of DNA binding	GO:0043388	9.68	CALM3 CALM2
19	positive regulation of nitric-oxide synthase activity	GO:0051000	9.68	CALM3 CALM1
20	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.67	SCN1B KCNE1
21	membrane depolarization	GO:0051899	9.67	SCN3B SCN1B
22	regulation of sodium ion transmembrane transporter activity	GO:2000649	9.67	SCN3B SCN1B
23	regulation of cardiac muscle contraction	GO:0055117	9.67	CALM3 CALM2 CALM1
24	response to corticosterone	GO:0051412	9.66	CALM3 CALM1
25	ventricular cardiac muscle cell action potential	GO:0086005	9.65	SCN3B KCNE1
26	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.65	CALM3 CALM1
27	positive regulation of sodium ion transport	GO:0010765	9.65	SCN3B SCN1B
28	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.65	CALM3 CALM2 CALM1
29	regulation of synaptic vesicle endocytosis	GO:1900242	9.64	CALM3 CALM1
30	establishment of protein localization to membrane	GO:0090150	9.64	CALM3 CALM1
31	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.63	SCN3B SCN1B
32	regulation of atrial cardiac muscle cell membrane depolarization	GO:0060371	9.63	SCN3B SCN1B
33	cardiac muscle cell action potential involved in contraction	GO:0086002	9.63	SCN3B SCN1B KCNE1
34	regulation of high voltage-gated calcium channel activity	GO:1901841	9.62	CALM3 CALM1
35	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.61	CALM3 CALM2 CALM1
36	detection of calcium ion	GO:0005513	9.58	CALM3 CALM2 CALM1
37	establishment of protein localization to mitochondrial membrane	GO:0090151	9.57	CALM3 CALM1
38	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.54	CALM3 CALM2 CALM1
39	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.5	CALM3 CALM2 CALM1
40	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.46	TRDN CALM3 CALM2 CALM1
41	positive regulation by host of symbiont cAMP-mediated signal transduction	GO:0075206	9.43	CALM3 CALM2 CALM1
42	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.26	TRDN CALM3 CALM2 CALM1
43	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 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.88	CALM3 CALM2 CALM1 ALPK3
2	protein domain specific binding	GO:0019904	9.77	CALM3 CALM2 CALM1
3	disordered domain specific binding	GO:0097718	9.63	CALM3 CALM2 CALM1
4	sodium channel regulator activity	GO:0017080	9.58	SCN3B SCN1B
5	protein serine/threonine kinase activator activity	GO:0043539	9.58	CALM3 CALM2 CALM1
6	sodium channel activity	GO:0005272	9.57	SCN3B SCN1B
7	voltage-gated sodium channel activity	GO:0005248	9.56	SCN3B SCN1B
8	phosphatidylinositol 3-kinase binding	GO:0043548	9.55	CALM3 CALM1
9	nitric-oxide synthase binding	GO:0050998	9.54	CALM3 CALM1
10	titin binding	GO:0031432	9.54	CALM3 CALM2 CALM1
11	calcium channel inhibitor activity	GO:0019855	9.52	CALM2 CALM1
12	nitric-oxide synthase regulator activity	GO:0030235	9.51	CALM3 CALM1
13	adenylate cyclase binding	GO:0008179	9.5	CALM3 CALM2 CALM1
14	sodium channel inhibitor activity	GO:0019871	9.49	SCN3B SCN1B
15	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.48	SCN3B SCN1B
16	type 3 metabotropic glutamate receptor binding	GO:0031800	9.43	CALM3 CALM1
17	protein phosphatase activator activity	GO:0072542	9.43	CALM3 CALM2 CALM1
18	adenylate cyclase activator activity	GO:0010856	9.33	CALM3 CALM2 CALM1
19	ion channel binding	GO:0044325	9.17	TRDN SCN3B SCN1B KCNE1 CALM3 CALM2
20	N-terminal myristoylation domain binding	GO:0031997	9.13	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 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 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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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