Long Qt Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT6 MCID: LNG051 MIFTS: 41	Long Qt Syndrome 6 (LQT6) 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 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ⁶ ¹⁵ ⁷⁴

Lqt6 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Long Qt Syndrome 6, Acquired, Susceptibility to ⁶

Susceptibility to Acquired Long Qt Syndrome 6 ⁷⁶

Qt Syndrome, Long, Type 6 ⁴¹

Long Qt Syndrome 3/6 ⁷⁶

Long Qt Syndrome 3-6 ⁷⁴

Long Qt Syndrome-6 ¹³

Lqt3/6 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
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

HPO:

³³

long qt syndrome 6:
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: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110648

OMIM ⁵⁸ 613693

MeSH ⁴⁵ D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C1863519 C3150953 C3150954 more

SNOMED-CT via HPO ⁷⁰ 111975006 263681008 271594007 more

UMLS ⁷⁴ C3150953 C3501836

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Summaries for Long Qt Syndrome 6

OMIM : ⁵⁸ 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). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to atrial fibrillation, familial, 4 and third-degree atrioventricular block, and has symptoms including syncope An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Disease Ontology : ¹² A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

UniProtKB/Swiss-Prot : ⁷⁶ Long QT syndrome 6: 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 6

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

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	atrial fibrillation, familial, 4	10.3	KCNE2 LOC105372791
2	third-degree atrioventricular block	10.2	KCNE2 SCN5A
3	brugada syndrome 1	10.2	KCNH2 SCN5A
4	benign neonatal seizures	10.2	KCNE2 KCNQ1
5	long qt syndrome 9	10.1	KCNJ2 SCN5A
6	long qt syndrome 13	10.1	KCNH2 KCNQ1 SCN5A
7	familial short qt syndrome	10.0	KCNH2 KCNJ2 KCNQ1
8	left ventricular noncompaction	10.0	KCNQ1 RYR2 SCN5A
9	myasthenic syndrome, congenital, 5	9.9	KCNH2 RYR2
10	cardiac conduction defect	9.9	KCNH2 KCNQ1 RYR2 SCN5A
11	syncope	9.9	KCNH2 KCNJ2 KCNQ1 SCN5A
12	sudden infant death syndrome	9.8	KCNH2 KCNQ1 RYR2 SCN5A
13	long qt syndrome 12	9.8	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
14	arrhythmogenic right ventricular cardiomyopathy	9.8	ANK2 KCNH2 RYR2 SCN5A
15	atrioventricular block	9.8	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
16	right bundle branch block	9.8	CACNA1C SCN5A
17	timothy syndrome	9.7	CACNA1C KCNE1 KCNH2 KCNQ1
18	long qt syndrome 3	9.7	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19	hypertrophic cardiomyopathy	9.5	CACNA1C RYR2 SCN5A
20	dilated cardiomyopathy	9.5	CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
21	familial atrial fibrillation	9.5	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LOC105372791
22	cardiac arrest	9.4	ANK2 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
23	intrinsic cardiomyopathy	9.4	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
24	jervell and lange-nielsen syndrome 1	9.4	CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25	catecholaminergic polymorphic ventricular tachycardia	9.3	ANK2 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
26	short qt syndrome	9.3	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27	heart conduction disease	9.2	CASQ2 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2
28	andersen cardiodysrhythmic periodic paralysis	9.2	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
29	long qt syndrome 2	9.2	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.2	ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
31	atrial fibrillation	9.2	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32	ventricular fibrillation, paroxysmal familial, 1	9.2	CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
33	brugada syndrome	9.2	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
34	heart disease	9.0	CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
35	long qt syndrome	8.7	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
36	cardiac arrhythmia	8.7	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
37	long qt syndrome 5	8.6	ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
38	long qt syndrome 1	8.4	ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:

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Symptoms & Phenotypes for Long Qt Syndrome 6

Human phenotypes related to Long Qt Syndrome 6:

³³

#	Description	HPO Source Accession
1	sudden cardiac death ³³	HP:0001645
2	prolonged qt interval ³³	HP:0001657
3	syncope ³³	HP:0001279
4	ventricular fibrillation ³³	HP:0001663
5	torsade de pointes ³³	HP:0001664

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

613693

UMLS symptoms related to Long Qt Syndrome 6:

syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.86	CACNA1C CASQ2 KCNH2 KCNJ2 KCNQ1 MGP
2	growth/size/body region	MP:0005378	9.81	CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1 MGP
3	homeostasis/metabolism	MP:0005376	9.61	CACNA1C CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
4	muscle	MP:0005369	9.23	CACNA1C CASQ2 KCNH2 KCNJ2 KCNQ1 MGP

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Drugs & Therapeutics for Long Qt Syndrome 6

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 6

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Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 6 ³⁰	KCNE2

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Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

⁴²

Heart

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Publications for Long Qt Syndrome 6

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Genes for Long Qt Syndrome 6

Genes related to Long Qt Syndrome 6 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	962.22	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ Risk factor ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	10219239 14661677 20301308
2	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	17.4	DISEASES inferred ¹⁵
3	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	17.05	DISEASES inferred ¹⁵
4	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	17.01	DISEASES inferred ¹⁵
5	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	16.74	DISEASES inferred ¹⁵
6	ANK2	Ankyrin 2	Protein Coding	16.42	DISEASES inferred ¹⁵
7	RYR2	Ryanodine Receptor 2	Protein Coding	15.47	DISEASES inferred ¹⁵
8	KCNJ2	Potassium Voltage-Gated Channel Subfamily J Member 2	Protein Coding	15.46	DISEASES inferred ¹⁵
9	GLE1	GLE1 RNA Export Mediator	Protein Coding	14.92	DISEASES inferred ¹⁵
10	CASQ2	Calsequestrin 2	Protein Coding	14.91	DISEASES inferred ¹⁵
11	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	14.04	DISEASES inferred ¹⁵
12	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	14.03	DISEASES inferred ¹⁵
13	MGP	Matrix Gla Protein	Protein Coding	13.94	DISEASES inferred ¹⁵
14	LOC105372791	Uncharacterized LOC105372791	RNA Gene	8.88	GeneCards inferred via : Variants (show sections)

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Variations for Long Qt Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	KCNE2	p.Met54Thr	VAR_008377	rs74315447
2	KCNE2	p.Ile57Thr	VAR_008378	rs74315448
3	KCNE2	p.Val65Met	VAR_015063	rs199473364
4	KCNE2	p.Phe60Leu	VAR_029334	rs16991654
5	KCNE2	p.Arg77Trp	VAR_035386	rs141423405

ClinVar genetic disease variations for Long Qt Syndrome 6:

⁶ (show all 38)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNE2	NM_172201.1(KCNE2): c.354G> A (p.Gly118=)	single nucleotide variant	Benign/Likely benign	rs187917779	GRCh37	Chromosome 21, 35743131: 35743131
2	KCNE2	NM_172201.1(KCNE2): c.354G> A (p.Gly118=)	single nucleotide variant	Benign/Likely benign	rs187917779	GRCh38	Chromosome 21, 34370832: 34370832
3	KCNE2	NM_172201.1(KCNE2): c.369_370delCT (p.Ter124Ilefs)	deletion	Uncertain significance	rs45610936	GRCh38	Chromosome 21, 34370847: 34370848
4	KCNE2	NM_172201.1(KCNE2): c.369_370delCT (p.Ter124Ilefs)	deletion	Uncertain significance	rs45610936	GRCh37	Chromosome 21, 35743146: 35743147
5	KCNE2	NM_172201.1(KCNE2): c.25C> G (p.Gln9Glu)	single nucleotide variant	Benign	rs16991652	GRCh37	Chromosome 21, 35742802: 35742802
6	KCNE2	NM_172201.1(KCNE2): c.25C> G (p.Gln9Glu)	single nucleotide variant	Benign	rs16991652	GRCh38	Chromosome 21, 34370503: 34370503
7	KCNE2	NM_172201.1(KCNE2): c.161T> C (p.Met54Thr)	single nucleotide variant	risk factor	rs74315447	GRCh37	Chromosome 21, 35742938: 35742938
8	KCNE2	NM_172201.1(KCNE2): c.161T> C (p.Met54Thr)	single nucleotide variant	risk factor	rs74315447	GRCh38	Chromosome 21, 34370639: 34370639
9	KCNE2	NM_172201.1(KCNE2): c.170T> C (p.Ile57Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315448	GRCh37	Chromosome 21, 35742947: 35742947
10	KCNE2	NM_172201.1(KCNE2): c.170T> C (p.Ile57Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315448	GRCh38	Chromosome 21, 34370648: 34370648
11	KCNE2	NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315449	GRCh37	Chromosome 21, 35742856: 35742856
12	KCNE2	NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74315449	GRCh38	Chromosome 21, 34370557: 34370557
13	KCNE2	NM_172201.1(KCNE2): c.193G> A (p.Val65Met)	single nucleotide variant	Uncertain significance	rs199473364	GRCh37	Chromosome 21, 35742970: 35742970
14	KCNE2	NM_172201.1(KCNE2): c.193G> A (p.Val65Met)	single nucleotide variant	Uncertain significance	rs199473364	GRCh38	Chromosome 21, 34370671: 34370671
15	KCNE2	NM_172201.1(KCNE2): c.193G> C (p.Val65Leu)	single nucleotide variant	Uncertain significance	rs199473364	GRCh37	Chromosome 21, 35742970: 35742970
16	KCNE2	NM_172201.1(KCNE2): c.193G> C (p.Val65Leu)	single nucleotide variant	Uncertain significance	rs199473364	GRCh38	Chromosome 21, 34370671: 34370671
17	KCNE2	NM_172201.1(KCNE2): c.22A> G (p.Thr8Ala)	single nucleotide variant	Benign	rs2234916	GRCh37	Chromosome 21, 35742799: 35742799
18	KCNE2	NM_172201.1(KCNE2): c.22A> G (p.Thr8Ala)	single nucleotide variant	Benign	rs2234916	GRCh38	Chromosome 21, 34370500: 34370500
19	KCNE2	NM_172201.1(KCNE2): c.29C> T (p.Thr10Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473648	GRCh37	Chromosome 21, 35742806: 35742806
20	KCNE2	NM_172201.1(KCNE2): c.29C> T (p.Thr10Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473648	GRCh38	Chromosome 21, 34370507: 34370507
21	KCNE2	NM_172201.1(KCNE2): c.29C> T (p.Thr10Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199473648	NCBI36	Chromosome 21, 34664676: 34664676
22	KCNE2	NM_172201.1(KCNE2): c.40G> A (p.Val14Ile)	single nucleotide variant	Likely benign	rs142153692	GRCh37	Chromosome 21, 35742817: 35742817
23	KCNE2	NM_172201.1(KCNE2): c.40G> A (p.Val14Ile)	single nucleotide variant	Likely benign	rs142153692	GRCh38	Chromosome 21, 34370518: 34370518
24	KCNE2	NM_172201.1(KCNE2): c.80G> A (p.Arg27His)	single nucleotide variant	Uncertain significance	rs148968498	GRCh37	Chromosome 21, 35742857: 35742857
25	KCNE2	NM_172201.1(KCNE2): c.80G> A (p.Arg27His)	single nucleotide variant	Uncertain significance	rs148968498	GRCh38	Chromosome 21, 34370558: 34370558
26	KCNE2	NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu)	single nucleotide variant	Uncertain significance	rs183427173	GRCh37	Chromosome 21, 35743094: 35743094
27	KCNE2	NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu)	single nucleotide variant	Uncertain significance	rs183427173	GRCh38	Chromosome 21, 34370795: 34370795
28	KCNE2	NM_172201.1(KCNE2): c.190A> G (p.Ile64Val)	single nucleotide variant	Uncertain significance	rs1555837082	GRCh37	Chromosome 21, 35742967: 35742967
29	KCNE2	NM_172201.1(KCNE2): c.190A> G (p.Ile64Val)	single nucleotide variant	Uncertain significance	rs1555837082	GRCh38	Chromosome 21, 34370668: 34370668
30	KCNE2	NM_172201.1(KCNE2): c.339C> T (p.Asn113=)	single nucleotide variant	Likely benign	rs756380802	GRCh37	Chromosome 21, 35743116: 35743116
31	KCNE2	NM_172201.1(KCNE2): c.339C> T (p.Asn113=)	single nucleotide variant	Likely benign	rs756380802	GRCh38	Chromosome 21, 34370817: 34370817
32	KCNE2	NM_172201.1(KCNE2): c.204G> A (p.Leu68=)	single nucleotide variant	Uncertain significance	rs200403369	GRCh38	Chromosome 21, 34370682: 34370682
33	KCNE2	NM_172201.1(KCNE2): c.204G> A (p.Leu68=)	single nucleotide variant	Uncertain significance	rs200403369	GRCh37	Chromosome 21, 35742981: 35742981
34	KCNE2	NM_172201.1(KCNE2): c.67A> T (p.Met23Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 21, 35742844: 35742844
35	KCNE2	NM_172201.1(KCNE2): c.67A> T (p.Met23Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 21, 34370545: 34370545
36	KCNE2	NM_172201.1(KCNE2): c.122T> C (p.Val41Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 21, 35742899: 35742899
37	KCNE2	NM_172201.1(KCNE2): c.122T> C (p.Val41Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 21, 34370600: 34370600
38	KCNE2	NC_000021.8: g.(?_35742772)_(36421202_?)del	deletion	Uncertain significance		GRCh37	Chromosome 21, 35742772: 36421202

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Expression for Long Qt Syndrome 6

Search GEO for disease gene expression data for Long Qt Syndrome 6.

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Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁸ Show member pathways Adrenergic signaling in cardiomyocytes ³⁸ Ca2+ activated K+ channels ⁶⁷ Cortisol synthesis and secretion ³⁸ Cushing syndrome ³⁸ Insulin secretion ³⁸ Melanogenesis ³⁸ Thyroid hormone synthesis ³⁸	12.67	CACNA1C KCNE1 KCNQ1 RYR2 SCN5A
2	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.29	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁵	12.09	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.88	KCNH2 KCNQ1 RYR2 SCN5A
5	Salivary secretion ³⁸ Show member pathways Gastric acid secretion ³⁸	11.85	KCNE2 KCNJ2 KCNQ1
6	Potassium Channels ⁶⁷ Show member pathways HCN channels ⁶⁷ Voltage gated Potassium channels ⁶⁷	11.78	KCNH2 KCNJ2 KCNQ1
7	Phase 0 - rapid depolarisation ⁶⁷ Show member pathways Phase 2 - plateau phase ⁶⁷	11.43	CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶²	11.07	ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
9	Interaction between L1 and Ankyrins ⁶⁷	10.95	ANK2 SCN5A
10	TarBasePathway ¹	10.78	KCNE1 KCNJ2 KCNQ1

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GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:0005764	9.71	ANK2 KCNE1 KCNE2 KCNQ1
2	intercalated disc	GO:0014704	9.5	ANK2 KCNJ2 SCN5A
3	sarcoplasmic reticulum membrane	GO:0033017	9.49	CASQ2 RYR2
4	smooth endoplasmic reticulum	GO:0005790	9.48	KCNJ2 RYR2
5	calcium channel complex	GO:0034704	9.46	CASQ2 RYR2
6	sarcolemma	GO:0042383	9.46	ANK2 CACNA1C RYR2 SCN5A
7	T-tubule	GO:0030315	9.43	ANK2 KCNJ2 SCN5A
8	junctional sarcoplasmic reticulum membrane	GO:0014701	9.37	CASQ2 RYR2
9	voltage-gated potassium channel complex	GO:0008076	9.35	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
10	Z disc	GO:0030018	9.1	ANK2 CACNA1C CASQ2 KCNE1 RYR2 SCN5A
11	plasma membrane	GO:0005886	10.13	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 47)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transport	GO:0006813	9.98	KCNE1 KCNE2 KCNH2 KCNJ2 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	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4	regulation of heart rate	GO:0002027	9.86	ANK2 CASQ2 RYR2 SCN5A
5	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.85	ANK2 CACNA1C CASQ2 RYR2
6	cardiac muscle contraction	GO:0060048	9.85	CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
7	cellular response to drug	GO:0035690	9.84	KCNE2 KCNH2 KCNQ1
8	positive regulation of potassium ion transmembrane transport	GO:1901381	9.83	KCNE1 KCNH2 KCNJ2 KCNQ1
9	potassium ion export across plasma membrane	GO:0097623	9.81	KCNE1 KCNE2 KCNH2 KCNQ1
10	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.8	KCNE1 KCNE2 KCNH2 KCNQ1
11	regulation of potassium ion transmembrane transport	GO:1901379	9.79	KCNE1 KCNE2 KCNH2
12	regulation of cardiac muscle cell contraction	GO:0086004	9.78	ANK2 KCNJ2 SCN5A
13	membrane repolarization	GO:0086009	9.78	KCNE1 KCNE2 KCNH2 KCNQ1
14	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.77	CACNA1C KCNJ2 SCN5A
15	atrial cardiac muscle cell action potential	GO:0086014	9.77	ANK2 KCNQ1 SCN5A
16	cardiac muscle cell action potential involved in contraction	GO:0086002	9.77	CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
17	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.73	KCNE1 KCNH2 KCNJ2 KCNQ1
18	regulation of membrane repolarization	GO:0060306	9.72	CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
19	positive regulation of heart rate	GO:0010460	9.7	KCNQ1 RYR2
20	regulation of cardiac muscle contraction	GO:0055117	9.7	ANK2 RYR2
21	membrane depolarization during action potential	GO:0086010	9.7	KCNH2 SCN5A
22	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.69	KCNE1 KCNE2
23	calcium ion transport into cytosol	GO:0060402	9.69	CACNA1C RYR2
24	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.69	CACNA1C RYR2
25	cellular response to epinephrine stimulus	GO:0071872	9.68	KCNQ1 RYR2
26	detection of calcium ion	GO:0005513	9.68	CASQ2 RYR2
27	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.68	CACNA1C RYR2
28	cellular response to caffeine	GO:0071313	9.68	CASQ2 RYR2
29	regulation of cardiac muscle contraction by calcium ion signaling	GO:0010882	9.67	ANK2 RYR2
30	regulation of delayed rectifier potassium channel activity	GO:1902259	9.67	KCNE1 KCNE2
31	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.66	KCNQ1 SCN5A
32	SA node cell action potential	GO:0086015	9.65	ANK2 SCN5A
33	membrane depolarization during AV node cell action potential	GO:0086045	9.65	CACNA1C SCN5A
34	membrane depolarization during SA node cell action potential	GO:0086046	9.65	ANK2 SCN5A
35	membrane repolarization during action potential	GO:0086011	9.65	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
36	sarcoplasmic reticulum calcium ion transport	GO:0070296	9.64	ANK2 RYR2
37	membrane depolarization during atrial cardiac muscle cell action potential	GO:0098912	9.64	CACNA1C SCN5A
38	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.63	ANK2 RYR2
39	regulation of gastric acid secretion	GO:0060453	9.63	KCNQ1 SGK1
40	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.63	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
41	Purkinje myocyte to ventricular cardiac muscle cell signaling	GO:0086029	9.62	CASQ2 RYR2
42	regulation of SA node cell action potential	GO:0098907	9.62	ANK2 RYR2
43	regulation of heart rate by cardiac conduction	GO:0086091	9.56	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
44	ventricular cardiac muscle cell action potential	GO:0086005	9.17	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
45	ion transport	GO:0006811	10.14	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46	transmembrane transport	GO:0055085	10.07	CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
47	ion transmembrane transport	GO:0034220	10.04	CACNA1C CASQ2 KCNQ1 RYR2 SCN5A SGK1

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.8	CACNA1C KCNQ1 RYR2 SCN5A
2	ion channel activity	GO:0005216	9.76	CACNA1C KCNH2 RYR2 SCN5A
3	potassium channel activity	GO:0005267	9.71	KCNE1 KCNE2 KCNH2 KCNQ1
4	scaffold protein binding	GO:0097110	9.69	KCNH2 KCNQ1 SCN5A
5	voltage-gated potassium channel activity	GO:0005249	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
6	potassium channel regulator activity	GO:0015459	9.65	KCNE1 KCNE2 SGK1
7	ion channel binding	GO:0044325	9.63	ANK2 KCNE1 KCNE2 KCNQ1 RYR2 SCN5A
8	delayed rectifier potassium channel activity	GO:0005251	9.62	KCNE1 KCNE2 KCNH2 KCNQ1
9	inward rectifier potassium channel activity	GO:0005242	9.61	KCNE2 KCNH2 KCNJ2
10	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.56	KCNE1 KCNE2 KCNH2 KCNQ1
11	protein kinase A regulatory subunit binding	GO:0034237	9.54	KCNQ1 RYR2
12	protein kinase A catalytic subunit binding	GO:0034236	9.52	KCNQ1 RYR2
13	voltage-gated ion channel activity	GO:0005244	9.43	CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
14	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	8.92	KCNE1 KCNH2 KCNJ2 KCNQ1

Sources

Sources for Long Qt Syndrome 6

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Long Qt Syndrome 6 (LQT6)

Aliases & Classifications for Long Qt Syndrome 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 6

Related Diseases for Long Qt Syndrome 6

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:

Symptoms & Phenotypes for Long Qt Syndrome 6

Human phenotypes related to Long Qt Syndrome 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Long Qt Syndrome 6:

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

Drugs & Therapeutics for Long Qt Syndrome 6

Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

Publications for Long Qt Syndrome 6

Genes for Long Qt Syndrome 6

Genes related to Long Qt Syndrome 6 (1 elite genes):

Variations for Long Qt Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

ClinVar genetic disease variations for Long Qt Syndrome 6:

Expression for Long Qt Syndrome 6

Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 6