Long Qt Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT5 MCID: LNG050 MIFTS: 44	Long Qt Syndrome 5 (LQT5) 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 5

MalaCards integrated aliases for Long Qt Syndrome 5:

Name: Long Qt Syndrome 5 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lqt5 ⁵⁷ ¹² ⁵³ ⁷⁵

Long Qt Syndrome 5, Acquired, Susceptibility to ⁶

Susceptibility to Acquired Long Qt Syndrome 5 ⁷⁵

Qt Syndrome, Long, Type 5 ⁴⁰

Long Qt Syndrome 2/5 ⁷⁵

Long Qt Syndrome 2-5 ⁷³

Long Qt Syndrome-5 ¹³

Lqt2/5 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
gei (gene-environment interaction) - association of cardiac events with drug administration
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome

HPO:

³²

long qt syndrome 5:
Inheritance heterogeneous 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 613695

Disease Ontology ¹² DOID:0110647

ICD10 ³³ I45.8

MedGen ⁴² C1867904 C3150956

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C1867904 C3501851

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Summaries for Long Qt Syndrome 5

OMIM : ⁵⁷ Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613695)

MalaCards based summary : Long Qt Syndrome 5, also known as lqt5, is related to long qt syndrome 2 and long qt syndrome, and has symptoms including syncope An important gene associated with Long Qt Syndrome 5 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12.

UniProtKB/Swiss-Prot : ⁷⁵ Long QT syndrome 5: 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 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 2	29.1	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
2	long qt syndrome	28.7	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
3	third-degree atrioventricular block	10.1	KCNE2 SCN5A
4	timothy syndrome	10.1	KCNE1 KCNH2 KCNQ1
5	familial short qt syndrome	10.0	KCNH2 KCNJ2 KCNQ1
6	benign neonatal seizures	10.0	KCNE2 KCNQ1
7	long qt syndrome 9	10.0	KCNJ2 SCN5A
8	brugada syndrome 1	10.0	AKAP9 KCNH2 SCN5A
9	dilated cardiomyopathy	9.9	KCNH2 KCNQ1 RYR2 SCN5A
10	syncope	9.9	KCNH2 KCNJ2 KCNQ1 SCN5A
11	left ventricular noncompaction	9.9	KCNQ1 RYR2 SCN5A
12	myasthenic syndrome, congenital, 5	9.9	KCNH2 RYR2
13	cardiac conduction defect	9.9	KCNH2 KCNQ1 RYR2 SCN5A
14	long qt syndrome 12	9.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
15	jervell and lange-nielsen syndrome 1	9.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
16	atrioventricular block	9.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17	short qt syndrome	9.9	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
18	sudden infant death syndrome	9.8	KCNH2 KCNQ1 RYR2 SCN5A
19	arrhythmogenic right ventricular cardiomyopathy	9.8	ANK2 KCNH2 RYR2 SCN5A
20	long qt syndrome 13	9.8	KCNH2 KCNJ5 KCNQ1 SCN5A
21	long qt syndrome 3	9.8	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22	familial atrial fibrillation	9.7	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
23	heart disease	9.6	KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
24	brugada syndrome	9.6	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1
25	intrinsic cardiomyopathy	9.6	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
26	catecholaminergic polymorphic ventricular tachycardia	9.6	ANK2 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
27	heart conduction disease	9.5	CASQ2 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2
28	ventricular fibrillation, paroxysmal familial, 1	9.5	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 RYR2
29	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.5	ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
30	cardiac arrhythmia	9.5	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31	atrial fibrillation	9.5	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32	cardiac arrest	9.5	AKAP9 ANK2 CASQ2 KCNH2 KCNQ1 RYR2
33	andersen cardiodysrhythmic periodic paralysis	9.2	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
34	long qt syndrome 6	9.1	ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
35	long qt syndrome 1	8.6	AKAP9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 5:

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Symptoms & Phenotypes for Long Qt Syndrome 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
prolonged qt interval on ekg
torsade de pointes

Clinical features from OMIM:

613695

Human phenotypes related to Long Qt Syndrome 5:

³²

#	Description	HPO Source Accession
1	sudden cardiac death ³²	HP:0001645
2	prolonged qt interval ³²	HP:0001657
3	syncope ³²	HP:0001279
4	ventricular fibrillation ³²	HP:0001663
5	torsade de pointes ³²	HP:0001664

UMLS symptoms related to Long Qt Syndrome 5:

syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 5:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.56	CASQ2 KCNH2 KCNJ2 KCNJ5 KCNQ1 PIK3CD
2	muscle	MP:0005369	9.1	CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A

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Drugs & Therapeutics for Long Qt Syndrome 5

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 5

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Genetic Tests for Long Qt Syndrome 5

Genetic tests related to Long Qt Syndrome 5:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 5 ²⁹	KCNE1

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Anatomical Context for Long Qt Syndrome 5

MalaCards organs/tissues related to Long Qt Syndrome 5:

⁴¹

Heart

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Publications for Long Qt Syndrome 5

Articles related to Long Qt Syndrome 5:

#	Title	Authors	Year
1	LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. ( 21712262 )	Nof E...Antzelevitch C	2011
2	The role of abnormal trafficking of KCNE1 in long QT syndrome 5. ( 17956282 )		2007
3	Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5. ( 17095567 )	Thomas G...Huang CL	2007
4	Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function. ( 16945797 )	Wu DM...Tseng GN	2006

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Genes for Long Qt Syndrome 5

Genes related to Long Qt Syndrome 5 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	937.35	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	24.47	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	17.99	DISEASES inferred ¹⁵
4	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	17.79	DISEASES inferred ¹⁵
5	ANK2	Ankyrin 2	Protein Coding	17.28	DISEASES inferred ¹⁵
6	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	17.25	DISEASES inferred ¹⁵
7	KCNJ2	Potassium Voltage-Gated Channel Subfamily J Member 2	Protein Coding	15.66	DISEASES inferred ¹⁵
8	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	14.61	DISEASES inferred ¹⁵
9	RYR2	Ryanodine Receptor 2	Protein Coding	14.58	DISEASES inferred ¹⁵
10	CASQ2	Calsequestrin 2	Protein Coding	14.57	DISEASES inferred ¹⁵
11	KCNJ5	Potassium Voltage-Gated Channel Subfamily J Member 5	Protein Coding	14.03	DISEASES inferred ¹⁵
12	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	13.7	DISEASES inferred ¹⁵
13	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	13.69	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 5:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	KCNE1	p.Ser74Leu	VAR_008900	rs74315446
2	KCNE1	p.Asp76Asn	VAR_008901	rs74315445
3	KCNE1	p.Trp87Arg	VAR_008903	rs199473361
4	KCNE1	p.Arg98Trp	VAR_009907	rs199473362
5	KCNE1	p.Pro127Thr	VAR_009908	rs199473647
6	KCNE1	p.Val109Ile	VAR_012802	rs77442996

ClinVar genetic disease variations for Long Qt Syndrome 5:

⁶ (show all 13)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNE1	NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315445	GRCh37	Chromosome 21, 35821707: 35821707
2	KCNE1	NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315445	GRCh38	Chromosome 21, 34449409: 34449409
3	KCNE1	NM_000219.5(KCNE1): c.221C> T (p.Ser74Leu)	single nucleotide variant	Uncertain significance	rs74315446	GRCh37	Chromosome 21, 35821712: 35821712
4	KCNE1	NM_000219.5(KCNE1): c.221C> T (p.Ser74Leu)	single nucleotide variant	Uncertain significance	rs74315446	GRCh38	Chromosome 21, 34449414: 34449414
5	KCNE1	NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity, other, risk factor	rs1805128	GRCh37	Chromosome 21, 35821680: 35821680
6	KCNE1	NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity, other, risk factor	rs1805128	GRCh38	Chromosome 21, 34449382: 34449382
7	KCNE1	NM_000219.5(KCNE1): c.23C> T (p.Ala8Val)	single nucleotide variant	Uncertain significance	rs199473348	GRCh37	Chromosome 21, 35821910: 35821910
8	KCNE1	NM_000219.5(KCNE1): c.23C> T (p.Ala8Val)	single nucleotide variant	Uncertain significance	rs199473348	GRCh38	Chromosome 21, 34449612: 34449612
9	KCNE1	NM_000219.5(KCNE1): c.292C> T (p.Arg98Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473362	GRCh37	Chromosome 21, 35821641: 35821641
10	KCNE1	NM_000219.5(KCNE1): c.292C> T (p.Arg98Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473362	GRCh38	Chromosome 21, 34449343: 34449343
11	KCNE1	NM_000219.5(KCNE1): c.292C> T (p.Arg98Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473362	NCBI36	Chromosome 21, 34743511: 34743511
12	KCNE1	NM_000219.5(KCNE1): c.325G> A (p.Val109Ile)	single nucleotide variant	Uncertain significance	rs77442996	GRCh37	Chromosome 21, 35821608: 35821608
13	KCNE1	NM_000219.5(KCNE1): c.325G> A (p.Val109Ile)	single nucleotide variant	Uncertain significance	rs77442996	GRCh38	Chromosome 21, 34449310: 34449310

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Expression for Long Qt Syndrome 5

Search GEO for disease gene expression data for Long Qt Syndrome 5.

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Pathways for Long Qt Syndrome 5

Pathways related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	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	12.74	KCNJ2 KCNJ5 KCNQ1 PIK3CD RYR2
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.71	AKAP9 KCNH2 KCNJ2 KCNJ5 KCNQ1
3	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	12.5	KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
4	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	12.49	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.92	KCNH2 KCNQ1 RYR2 SCN5A
6	Salivary secretion ³⁷ Show member pathways Gastric acid secretion ³⁷	11.89	KCNE2 KCNJ2 KCNQ1
7	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.86	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
8	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.84	KCNH2 KCNJ2 KCNJ5 KCNQ1
9	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.53	AKAP9 KCNE1 KCNE2 KCNQ1 SCN5A
10	Aldosterone-regulated sodium reabsorption ³⁷	11.09	PIK3CD SGK1
11	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11.07	ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
12	Interaction between L1 and Ankyrins ⁶⁶	10.99	ANK2 SCN5A
13	TarBasePathway ¹	10.78	KCNE1 KCNJ2 KCNQ1

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GO Terms for Long Qt Syndrome 5

Cellular components related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	9.84	KCNE1 KCNE2 KCNH2 SCN5A
2	lysosome	GO:0005764	9.73	ANK2 KCNE1 KCNE2 KCNQ1
3	membrane raft	GO:0045121	9.7	ANK2 KCNE1 KCNQ1
4	sarcolemma	GO:0042383	9.58	ANK2 RYR2 SCN5A
5	sarcoplasmic reticulum membrane	GO:0033017	9.51	CASQ2 RYR2
6	intercalated disc	GO:0014704	9.5	ANK2 KCNJ2 SCN5A
7	smooth endoplasmic reticulum	GO:0005790	9.48	KCNJ2 RYR2
8	calcium channel complex	GO:0034704	9.46	CASQ2 RYR2
9	T-tubule	GO:0030315	9.46	ANK2 KCNJ2 KCNJ5 SCN5A
10	junctional sarcoplasmic reticulum membrane	GO:0014701	9.37	CASQ2 RYR2
11	Z disc	GO:0030018	9.35	ANK2 CASQ2 KCNE1 RYR2 SCN5A
12	voltage-gated potassium channel complex	GO:0008076	9.17	AKAP9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
13	membrane	GO:0016020	10.24	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
14	plasma membrane	GO:0005886	10	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5

Biological processes related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 49)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transport	GO:0006813	9.99	KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
2	potassium ion transmembrane transport	GO:0071805	9.97	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	regulation of ion transmembrane transport	GO:0034765	9.95	KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
4	regulation of heart rate by cardiac conduction	GO:0086091	9.91	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2
5	regulation of heart rate	GO:0002027	9.87	ANK2 CASQ2 RYR2 SCN5A
6	cellular response to drug	GO:0035690	9.85	KCNE2 KCNH2 KCNQ1
7	cardiac muscle cell action potential involved in contraction	GO:0086002	9.85	KCNE1 KCNE2 KCNJ2 SCN5A
8	cardiac muscle contraction	GO:0060048	9.85	CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
9	positive regulation of potassium ion transmembrane transport	GO:1901381	9.84	KCNE1 KCNH2 KCNJ2 KCNQ1
10	potassium ion export across plasma membrane	GO:0097623	9.83	KCNE1 KCNE2 KCNH2 KCNQ1
11	cellular response to cAMP	GO:0071320	9.82	AKAP9 KCNE1 KCNQ1
12	potassium ion import across plasma membrane	GO:1990573	9.81	KCNE2 KCNJ2 KCNJ5
13	potassium ion import	GO:0010107	9.8	KCNE2 KCNJ2 KCNJ5
14	potassium ion export	GO:0071435	9.8	KCNE1 KCNE2 KCNH2 KCNQ1
15	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.78	ANK2 CASQ2 RYR2
16	membrane repolarization	GO:0086009	9.78	KCNE1 KCNE2 KCNH2 KCNQ1
17	regulation of potassium ion transmembrane transport	GO:1901379	9.77	KCNE1 KCNE2 KCNH2
18	regulation of cardiac muscle cell contraction	GO:0086004	9.77	ANK2 KCNJ2 SCN5A
19	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.77	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
20	atrial cardiac muscle cell action potential	GO:0086014	9.76	ANK2 KCNQ1 SCN5A
21	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.73	KCNE1 KCNH2 KCNJ2 KCNQ1
22	membrane repolarization during action potential	GO:0086011	9.72	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
23	regulation of cardiac conduction	GO:1903779	9.71	CASQ2 RYR2
24	positive regulation of heart rate	GO:0010460	9.7	KCNQ1 RYR2
25	regulation of cardiac muscle contraction	GO:0055117	9.7	ANK2 RYR2
26	membrane depolarization during action potential	GO:0086010	9.7	KCNH2 SCN5A
27	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.7	AKAP9 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1
28	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.69	KCNE1 KCNE2
29	cellular response to epinephrine stimulus	GO:0071872	9.69	KCNQ1 RYR2
30	detection of calcium ion	GO:0005513	9.69	CASQ2 RYR2
31	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.68	KCNJ2 SCN5A
32	cellular response to caffeine	GO:0071313	9.68	CASQ2 RYR2
33	regulation of cardiac muscle contraction by calcium ion signaling	GO:0010882	9.68	ANK2 RYR2
34	regulation of delayed rectifier potassium channel activity	GO:1902259	9.68	KCNE1 KCNE2
35	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.67	AKAP9 ANK2
36	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.67	KCNQ1 SCN5A
37	SA node cell action potential	GO:0086015	9.66	ANK2 SCN5A
38	membrane depolarization during SA node cell action potential	GO:0086046	9.66	ANK2 SCN5A
39	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.65	KCNJ5 KCNQ1
40	sarcoplasmic reticulum calcium ion transport	GO:0070296	9.65	ANK2 RYR2
41	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.64	ANK2 RYR2
42	regulation of gastric acid secretion	GO:0060453	9.64	KCNQ1 SGK1
43	Purkinje myocyte to ventricular cardiac muscle cell signaling	GO:0086029	9.62	CASQ2 RYR2
44	regulation of SA node cell action potential	GO:0098907	9.62	ANK2 RYR2
45	ventricular cardiac muscle cell action potential	GO:0086005	9.5	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
46	regulation of membrane repolarization	GO:0060306	9.1	AKAP9 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
47	ion transport	GO:0006811	10.16	KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1
48	ion transmembrane transport	GO:0034220	10.01	CASQ2 KCNQ1 RYR2 SCN5A SGK1
49	transmembrane transport	GO:0055085	10	KCNH2 KCNQ1 RYR2 SCN5A

Molecular functions related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium channel activity	GO:0005267	9.76	KCNE1 KCNE2 KCNH2 KCNQ1
2	calmodulin binding	GO:0005516	9.74	KCNQ1 RYR2 SCN5A
3	voltage-gated potassium channel activity	GO:0005249	9.73	KCNE1 KCNE2 KCNH2 KCNQ1
4	voltage-gated ion channel activity	GO:0005244	9.73	KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 SCN5A
5	ion channel activity	GO:0005216	9.72	KCNH2 RYR2 SCN5A
6	potassium channel regulator activity	GO:0015459	9.71	AKAP9 KCNE1 KCNE2 SGK1
7	scaffold protein binding	GO:0097110	9.69	KCNH2 KCNQ1 SCN5A
8	delayed rectifier potassium channel activity	GO:0005251	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
9	protein kinase A regulatory subunit binding	GO:0034237	9.65	AKAP9 KCNQ1 RYR2
10	inward rectifier potassium channel activity	GO:0005242	9.62	KCNE2 KCNH2 KCNJ2 KCNJ5
11	protein kinase A catalytic subunit binding	GO:0034236	9.54	KCNQ1 RYR2
12	G-protein activated inward rectifier potassium channel activity	GO:0015467	9.52	KCNJ2 KCNJ5
13	ion channel binding	GO:0044325	9.5	AKAP9 ANK2 KCNE1 KCNE2 KCNQ1 RYR2
14	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.49	KCNJ5 KCNQ1
15	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.46	KCNE1 KCNH2 KCNJ2 KCNQ1
16	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.02	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
17	protein binding	GO:0005515	10.34	AKAP9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2

Sources

Sources for Long Qt Syndrome 5

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 5 (LQT5)

Aliases & Classifications for Long Qt Syndrome 5

MalaCards integrated aliases for Long Qt Syndrome 5:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 5

Related Diseases for Long Qt Syndrome 5

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 5:

Symptoms & Phenotypes for Long Qt Syndrome 5

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Long Qt Syndrome 5:

UMLS symptoms related to Long Qt Syndrome 5:

MGI Mouse Phenotypes related to Long Qt Syndrome 5:

Drugs & Therapeutics for Long Qt Syndrome 5

Genetic Tests for Long Qt Syndrome 5

Genetic tests related to Long Qt Syndrome 5:

Anatomical Context for Long Qt Syndrome 5

MalaCards organs/tissues related to Long Qt Syndrome 5:

Publications for Long Qt Syndrome 5

Articles related to Long Qt Syndrome 5:

Genes for Long Qt Syndrome 5

Genes related to Long Qt Syndrome 5 (1 elite genes):

Variations for Long Qt Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 5:

ClinVar genetic disease variations for Long Qt Syndrome 5:

Expression for Long Qt Syndrome 5

Pathways for Long Qt Syndrome 5

Pathways related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 5

Cellular components related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 5