Long Qt Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Name: Long Qt Syndrome 1 ⁵⁷ ¹¹ ¹⁹ ⁷³ ²⁸ ⁵ ¹⁴

Romano-Ward Syndrome ⁵⁷ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁷³ ⁵³ ⁵ ⁷¹

Ward-Romano Syndrome ⁵⁷ ¹⁹ ⁴² ⁷³

Lqt1 ⁵⁷ ¹¹ ¹⁹ ⁷³

Ventricular Fibrillation with Prolonged Qt Interval ⁵⁷ ¹¹ ¹⁹

Rws ⁵⁷ ⁴² ⁷³

Wrs ⁵⁷ ⁴²

Long Qt Syndrome 1, Acquired, Susceptibility to ⁵⁷

Acquired Susceptibility to Long Qt Syndrome 1 ⁵

Long Qt Syndrome 1, Acquired ⁵⁷

Romano-Ward Long Qt Syndrome ⁵⁸

Qt Syndrome, Long, Type 1 ³⁸

Long Qt Syndrome Type 1 ⁷⁵

Long Qt Syndrome-1 ¹²

Characteristics:

Inheritance:

Long Qt Syndrome 1: Autosomal dominant ⁵⁷

Romano-Ward Syndrome: Autosomal dominant,Autosomal recessive ⁵⁸

Prevelance:

Romano-Ward Syndrome: 1-5/10000 (Europe) ⁵⁸

Age Of Onset:

Romano-Ward Syndrome: All ages ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
genetic heterogeneity
association of cardiac events with exercise
patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹¹ DOID:0110644

OMIM® ⁵⁷ 192500

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴³ D029597

ICD10 ³¹ I45.8

MESH via Orphanet ⁴⁴ D029597

ICD10 via Orphanet ³² I45.8

UMLS via Orphanet ⁷² C0035828

Orphanet ⁵⁸ ORPHA101016

MedGen ⁴⁰ C0035828 C1843738 C4551647 more

SNOMED-CT via HPO ⁶⁹ 128613002 166690008 246545002 more

UMLS ⁷¹ C0035828

Sources

Summaries for Long Qt Syndrome 1

MedlinePlus Genetics: ⁴² Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.

MalaCards based summary: Long Qt Syndrome 1, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 3, and has symptoms including syncope An important gene associated with Long Qt Syndrome 1 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transmission across Chemical Synapses. The drugs Carbamide peroxide and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle, and related phenotypes are prolonged qtc interval and syncope

GARD: ¹⁹ Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.

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). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). (192500) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ 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.

Orphanet: ⁵⁸ A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).

Disease Ontology: ¹¹ A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

Wikipedia ⁷⁵ Long qt syndrome type 1: Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more...

Romano-ward syndrome: Romano-Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart... more...

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Related Diseases for Long Qt Syndrome 1

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

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 2	32.9	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
2	long qt syndrome 3	32.1	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
3	long qt syndrome 6	32.1	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
4	long qt syndrome 12	32.1	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
5	long qt syndrome 5	32.0	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
6	long qt syndrome 13	32.0	SNTA1 SCN5A SCN4B KCNQ1 KCNJ5 KCNH2
7	long qt syndrome 9	32.0	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
8	familial long qt syndrome	31.4	SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE1
9	long qt syndrome	31.3	TRDN SNTA1 SCN5A SCN4B SCN10A KCNQ1OT1
10	syncope	31.1	SCN5A KCNQ1 KCNH2
11	progressive familial heart block, type ia	30.9	SCN5A DSP ANK2
12	hypokalemia	30.9	KCNQ1 KCNJ5 KCNH2
13	atrial fibrillation	30.8	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
14	jervell and lange-nielsen syndrome 1	30.8	TRDN SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1
15	short qt syndrome	30.8	SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
16	cardiac conduction defect	30.7	SCN5A KCNQ1 DSP CACNA1C
17	familial atrial fibrillation	30.7	SNTA1 SCN5A SCN4B SCN10A KCNQ1 KCNJ5
18	cardiac arrest	30.6	TRDN SCN5A KCNQ1 KCNH2 DSP CALM3
19	ventricular fibrillation, paroxysmal familial, 1	30.6	SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
20	cardiomyopathy, familial hypertrophic, 1	30.5	SCN5A KCNQ1 KCNH2 CAV3 CACNA1C
21	lipoprotein quantitative trait locus	30.4	SCN5A KCNQ1 KCNJ5 KCNH2 KCNE2 CACNA1C
22	hypertrophic cardiomyopathy	30.4	TRDN SNTA1 SCN5A KCNQ1 KCNH2 KCNE2
23	catecholaminergic polymorphic ventricular tachycardia	30.3	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ5
24	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	11.6
25	ragweed sensitivity	11.0
26	torsade de pointes, short-coupled variant	10.9
27	long qt syndrome 8	10.9
28	brugada syndrome 4	10.5	SCN5A KCNQ1 KCNH2 CACNA1C
29	progressive familial heart block	10.5	SCN5A KCNQ1 DSP
30	diamond-blackfan anemia 3	10.5	SCN5A KCNH2 CALM3 CALM1
31	sinoatrial node disease	10.5	SCN5A SCN10A KCNQ1 KCNH2 KCNE2 CACNA1C
32	right bundle branch block	10.5	SCN5A KCNH2 DSP CACNA1C
33	deafness, autosomal recessive 98	10.5	KCNQ1 KCNE2 KCNE1
34	brugada syndrome 3	10.5	KCNE2 CACNA1C ANK2
35	atrioventricular block	10.5	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
36	long qt syndrome 14	10.5	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNH2
37	sick sinus syndrome	10.5	SCN5A SCN10A KCNE1 CACNA1C
38	developmental and epileptic encephalopathy 14	10.5	SCN5A KCNQ1 KCNH2
39	long qt syndrome 15	10.5	TRDN SNTA1 SCN4B KCNH2 CALM3 CALM2
40	arrhythmogenic right ventricular cardiomyopathy	10.5	SCN5A KCNQ1 KCNH2 DSP CACNA1C ANK2
41	third-degree atrioventricular block	10.5	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
42	familial periodic paralysis	10.5	SCN5A KCNJ5 CACNA1C
43	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.5	TRDN CALM1 CACNA1C ANK2
44	familial short qt syndrome	10.5	KCNQ1 KCNH2
45	brugada syndrome 1	10.5	SCN5A SCN10A KCNH2
46	sudden infant death syndrome	10.5	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
47	generalized epilepsy with febrile seizures plus	10.4	SCN5A SCN4B SCN10A ANK2
48	long qt syndrome 10	10.4	SNTA1 SCN5A SCN4B KCNJ5 KCNE2 KCNE1
49	noonan syndrome with multiple lentigines	10.4	SCN5A KCNQ1 KCNH2
50	paroxysmal extreme pain disorder	10.4	SCN5A SCN4B SCN10A

Graphical network of the top 20 diseases related to Long Qt Syndrome 1:

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Symptoms & Phenotypes for Long Qt Syndrome 1

Human phenotypes related to Long Qt Syndrome 1:

⁵⁸ ³⁰ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	prolonged qtc interval ⁵⁸ ³⁰	Very rare (1%)	Obligate (100%)	HP:0005184
2	syncope ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001279
3	abnormal t-wave ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005135
4	sinus bradycardia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001688
5	seizure ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001250
6	sudden cardiac death ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0001645
7	abnormal autonomic nervous system physiology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012332
8	torsade de pointes ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0001664
9	abnormal cardiac exercise stress test ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0500018
10	hypokalemia ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002900
11	abnormality of prenatal development or birth ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001197
12	ventricular fibrillation ³⁰	Very rare (1%)		HP:0001663
13	hearing impairment ⁵⁸		Excluded (0%)
14	ventricular arrhythmia ⁵⁸		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Head And Neck Ears:
normal hearing

Clinical features from OMIM®:

192500 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 1:

syncope

GenomeRNAi Phenotypes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.17	AKAP9 CALM1 CALM2 CALM3 CAV3 KCNJ5

MGI Mouse Phenotypes related to Long Qt Syndrome 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.85	ANK2 CACNA1C CAV3 DSP KCNE1 KCNH2
2	growth/size/body region	MP:0005378	9.77	AKAP9 ANK2 CACNA1C CALM1 CAV3 DSP
3	cardiovascular system	MP:0005385	9.36	ANK2 CACNA1C CALM1 CAV3 DSP KCNE1

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Drugs & Therapeutics for Long Qt Syndrome 1

Drugs for Long Qt Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Carbamide peroxide

Approved

124-43-6

2

Methylphenidate

Approved, Investigational

113-45-1

4158

3

Citalopram

Approved

59729-32-7, 59729-33-8

2771

4

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

5

Spironolactone

Approved

1952-01-7, 52-01-7

5833

6

Aspartic acid

Approved, Nutraceutical

56-84-8

5960

7

Dexetimide

Withdrawn

21888-98-2

30843

8

Calcium, Dietary

9

Antidepressive Agents

10

N-Methylaspartate

11

Natriuretic Peptide, Brain

12

Epinephryl borate

13

Bronchodilator Agents

14

Adrenergic beta-Agonists

15

Adrenergic alpha-Agonists

16

Anti-Asthmatic Agents

17

Adrenergic Agonists

18

Vasoconstrictor Agents

19

Respiratory System Agents

20

Mydriatics

21

Sympathomimetics

22

Neurotransmitter Agents

23

Adrenergic beta-Antagonists

24

Adrenergic Antagonists

25

Adrenergic Agents

26

Hormones

27

Hormone Antagonists

28

Diuretics, Potassium Sparing

29

diuretics

30

Mineralocorticoids

31

Mineralocorticoid Receptor Antagonists

32

Insulin, Globin Zinc

33

Insulin

34

Chrysarobin

35

D-Alanine

Experimental, Nutraceutical

302-72-7, 338-69-2, 56-41-7

101757026 602 71080 5950

36

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

#	Name	Status	NCT ID	Drugs
1	Exploring the Effect of Methylphenidate and Antidepressants on Cardiac Repolarisation.	Unknown status	NCT03642405
2	Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients With KCNQ1 or KCNH2 Mutation Without Long QT Interval in Rest ECG	Unknown status	NCT01745666
3	Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon	Completed	NCT03291145	Beta Blockers;Spironolactone
4	Interventional Study With Low Risks and Constraints on the Effect of KCNQ1 Mutation (Romano-Ward Syndrome) on Insulin Tolerance and Obsessive Compulsive Features, a Cross-sectional Study With Matched Controls With an Attempt of Linkage to Whole Genome Scanning.	Recruiting	NCT04715256

Search NIH Clinical Center for Long Qt Syndrome 1

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Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 1 ²⁸	KCNQ1

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Anatomical Context for Long Qt Syndrome 1

Organs/tissues related to Long Qt Syndrome 1:

MalaCards : Heart, Brain, Skeletal Muscle, Trachea, Colon, Thyroid, Eye

ODiseA: Heart-Ventricle, Heart

Sources

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

(show top 50) (show all 882)

#	Title	Authors	PMID	Year
1	Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. ⁵³ ⁶² ⁵⁷ ⁵	Splawski I...Keating MT	10973849	2000
2	Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. ⁶² ⁵⁷ ⁵	Johnson JN...Ackerman MJ	18452873	2008
3	Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. ⁶² ⁵⁷ ⁵	Brink PA...Schwartz PJ	16246960	2005
4	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. ⁶² ⁵⁷ ⁵	Tester DJ...Ackerman MJ	15840476	2005
5	Risk stratification in the long-QT syndrome. ⁶² ⁵⁷ ⁵	Priori SG...Cappelletti D	12736279	2003
6	A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. ⁶² ⁵⁷ ⁵	Ackerman MJ...Thibodeau SN	9702906	1998
7	Evidence of a long QT founder gene with varying phenotypic expression in South African families. ⁶² ⁵⁷ ⁵	de Jager T...Corfield VA	8818942	1996
8	Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. ⁶² ⁵⁷ ⁵	Wang Q...Keating MT	8528244	1996
9	AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. ⁵⁷ ⁵	de Villiers CP...Corfield VA	25087618	2014
10	A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. ⁵⁷ ⁵	Arbour L...Fedida D	18580685	2008
11	Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. ⁵⁷ ⁵	Millat G...Rodriguez-Lafrasse C	16922724	2006
12	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. ⁵⁷ ⁵	Napolitano C...Leonardi S	16414944	2005
13	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. ⁵⁷ ⁵	Gouas L...D.E.S.I.R. Study Group	16132053	2005
14	Compound mutations: a common cause of severe long-QT syndrome. ⁵⁷ ⁵	Westenskow P...Sanguinetti MC	15051636	2004
15	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. ⁵⁷ ⁵	Yang P...Roden DM	11997281	2002
16	C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. ⁵⁷ ⁵	Berthet M...Guicheney P	10086971	1999
17	Low penetrance in the long-QT syndrome: clinical impact. ⁵⁷ ⁵	Priori SG...Schwartz PJ	9927399	1999
18	Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ⁵⁷ ⁵	Jongbloed RJ...Smeets HJ	10220144	1999
19	KVLQT1 mutations in three families with familial or sporadic long QT syndrome. ⁵⁷ ⁵	Russell MW...Brody LC	8872472	1996
20	Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. ⁵³ ⁶² ⁵	Berge KE...Leren TP	18752142	2008
21	The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. ⁵³ ⁶² ⁵	Novotny T...Spinar J	16981927	2006
22	A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. ⁵³ ⁶² ⁵	Piippo K...Kontula K	11216980	2001
23	Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. ⁵³ ⁶² ⁵	Larsen LA...Christiansen M	10482963	1999
24	KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. ⁵³ ⁶² ⁵	Donger C...Guicheney P	9386136	1997
25	Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. ⁶² ⁵	Zafari Z...Akbari MT	29033053	2017
26	Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. ⁶² ⁵	Bdier AY...Al-Aama JY	28944242	2017
27	Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. ⁶² ⁵	Fujii Y...Itoh H	27816319	2017
28	Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. ⁶² ⁵	Itoh H...Guicheney P	26669661	2016
29	KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. ⁶² ⁵	Vyas B...Verma IC	27041150	2016
30	Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. ⁶² ⁵	Vyas B...Verma IC	27485560	2016
31	QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. ⁶² ⁵	Seethala S...Nemec J	26675252	2015
32	Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. ⁶² ⁵	Eldstrom J...Fedida D	25444851	2015
33	Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. ⁶² ⁵	Harmer SC...Tinker A	24912595	2014
34	LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function. ⁶² ⁵	Jackson HA...Arbour LT	23844633	2014
35	Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. ⁶² ⁵	Crotti L...Schwartz PJ	23158531	2012
36	Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. ⁶² ⁵	Harmer SC...Tinker A	22309168	2012
37	Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. ⁶² ⁵	Barsheshet A...Lopes CM	22456477	2012
38	Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process. ⁶² ⁵	Tsuji-Wakisaka K...Horie M	21810471	2011
39	R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. ⁶² ⁵	Bartos DC...Delisle BP	20850564	2011
40	Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. ⁶² ⁵	Eldstrom J...Fedida D	20421371	2010
41	PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. ⁶² ⁵	Matavel A...Lopes CM	19934648	2010
42	Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. ⁶² ⁵	Kapa S...Ackerman MJ	19841300	2009
43	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. ⁶² ⁵	Kapplinger JD...Ackerman MJ	19716085	2009
44	Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. ⁶² ⁵	Jons C...Robinson JL	19490272	2009
45	Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. ⁶² ⁵	Henrion U...Seebohm G	19590188	2009
46	Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. ⁶² ⁵	Tester DJ...Ackerman MJ	16818210	2006
47	Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. ⁶² ⁵	Tester DJ...Ackerman MJ	16818214	2006
48	[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. ⁶² ⁵	Liu WL...Wang Q	16831322	2006
49	Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). ⁶² ⁵	Wilson AJ...Tinker A	15935335	2005
50	Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. ⁶² ⁵	Choi G...Ackerman MJ	15466642	2004

Sources

Genes for Long Qt Syndrome 1

Genes related to Long Qt Syndrome 1 (22 elite genes):

(show top 50) (show all 88)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	1774.09	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	8487283 8528244 8818942 (more) 8872472 9024139 9312006 9386136 9570196 9654228 9702906 10024302 10086971 10220144 10477533 10482963 10511610 10560595 10704188 10728423 10973849 11216980 11530100 11684219 11997281 12051962 12205113 12205790 12566525 12702160 14510661 14756674 14998624 15051636 15176425 15358555 15466642 15840476 16246960 16414944 16922724 16981927 16987820 18452873 18580685 19490272 19632626 19716085 19808498 19825999 19843919 19934648 20421371 20660394 20850564 21350584 21810471 22309168 22429796 22539601 22613981 23098067 23350853 23392653 23631430 23844633 23851063 24388587 24552659 24666684 24912595 25087618 25187895 25444851 25935074 26546361 26669661 27041150 27485560 27831900 28364778 28438721 28944242 29037160 29255176 29532034 30530868 31589614 31737537 32238909 36197721 9693036 9927399 11087258 11140949 12402336 14678125 15781747 15935335 16556865 16818214 17470695 17905336 19590188 19841300 20662986 22456477 22727609 22949429 23130128 24218437 24357532 24606995 24947509 25453094 27479201 29033053 29677589 35535697 20301308 24093767 9641694 10737999 16929947 10898405 12388934 16882680 16911578 9848024 18752142 19027783 15511625 9506986 10077519
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	794.95	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	29431731 16432067 23303164 (more) 28349240 18441445 26669661 11009462 10973849 23098067 10483966 10862094 11278781 11741928 11854117 12270925 12808265 16414944 16831322 17823114 18752142 19490267 19695459 19716085 19841300 19843919 21440677 21737021 22949429 23158531 23631430 24057343 25158096 25417810 26187847 26675252 26958806 27041096 27816319 27920829 29766885 20301308 24093767
3	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	794.42	Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10377081 10727653 11901046 (more) 15840476 16379539 18451998 18508782 21321465 24871449 20129283 22090165 22090166 23631430 20301308 24093767 18752142 10973849 10508990
4	CALM3	Calmodulin 3	Protein Coding	781.46	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	31170290
5	CALM2	Calmodulin 2	Protein Coding	779.5	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	23388215 24917665
6	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	429.42	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	27041150 19716085 19841300
7	KCNQ1-AS1	KCNQ1 Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	23098067 10024302 16981927 (more) 23631430 25187895 19716085 19825999
8	DSP	Desmoplakin	Protein Coding	404.5	Pathogenic ⁵ DISEASES inferred ¹⁴	19095136 19279339 21606396 (more) 21606390 25163546 25225338 25820315 30382575
9	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	395.73	Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20301308 24093767 9354783 (more) 19008479 19716085 26187847 24561134 19521339 19340287 24400172 11320260 12566567 16818210 24606995 9445165 9354802 15840476 11216980 16929947 10898405 12388934 9848024 10593671 15498462 18752142 10973849 18400097 19027783 10077519 16038262
10	CAV3	Caveolin 3	Protein Coding	382.08	Causative germline mutation (gain of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	20301308 24093767
11	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	369.24	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20301308 24093767 10898405 (more) 18752142 10973849
12	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	357.93	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	20301308 24093767
13	ANK2	Ankyrin 2	Protein Coding	357.57	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	12571597 17242276 19862833
14	SNTA1	Syntrophin Alpha 1	Protein Coding	357.54	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴	20301308 24093767
15	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	357.48	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	23677916
16	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	357.43	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴	20301308 24093767
17	TRDN	Triadin	Protein Coding	356.85	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	27041150
18	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	356.7	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	20301308 24093767
19	CALM1	Calmodulin 1	Protein Coding	356.66	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	23388215 24076290
20	SCN10A	Sodium Voltage-Gated Channel Alpha Subunit 10	Protein Coding	354.38	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	28407228
21	TBX5	T-Box Transcription Factor 5	Protein Coding	354.13	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	33369127
22	NOS1AP	Nitric Oxide Synthase 1 Adaptor Protein	Protein Coding	32.3	Modifying germline mutation ⁵⁸ DISEASES inferred ¹⁴	19822806 20538168
23	PKP2	Plakophilin 2	Protein Coding	30.83	Likely pathogenic ⁵ DISEASES inferred ¹⁴	23168288 24070718 20152563
24	OXTR	Oxytocin Receptor	Protein Coding	25	Likely pathogenic ⁵
25	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	7.97	DISEASES inferred ¹⁴
26	RYR2	Ryanodine Receptor 2	Protein Coding	7.26	DISEASES inferred ¹⁴
27	KCNE3	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3	Protein Coding	7.02	DISEASES inferred ¹⁴
28	CASQ2	Calsequestrin 2	Protein Coding	6.99	DISEASES inferred ¹⁴
29	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	6.48	DISEASES inferred ¹⁴
30	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	6.19	DISEASES inferred ¹⁴
31	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	6.18	DISEASES inferred ¹⁴
32	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	6.14	DISEASES inferred ¹⁴
33	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	6.09	DISEASES inferred ¹⁴
34	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	6.05	DISEASES inferred ¹⁴
35	GPD1L	Glycerol-3-Phosphate Dehydrogenase 1 Like	Protein Coding	5.96	DISEASES inferred ¹⁴
36	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	5.94	DISEASES inferred ¹⁴
37	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	5.9	DISEASES inferred ¹⁴
38	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	5.86	DISEASES inferred ¹⁴
39	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	5.81	DISEASES inferred ¹⁴
40	AKAP1	A-Kinase Anchoring Protein 1	Protein Coding	5.74	DISEASES inferred ¹⁴
41	KCNE4	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4	Protein Coding	5.72	DISEASES inferred ¹⁴
42	KCNJ8	Potassium Inwardly Rectifying Channel Subfamily J Member 8	Protein Coding	5.65	DISEASES inferred ¹⁴
43	MYH6	Myosin Heavy Chain 6	Protein Coding	5.64	DISEASES inferred ¹⁴
44	KCNQ4	Potassium Voltage-Gated Channel Subfamily Q Member 4	Protein Coding	5.54	DISEASES inferred ¹⁴
45	MYH7	Myosin Heavy Chain 7	Protein Coding	5.52	DISEASES inferred ¹⁴
46	ADRB1	Adrenoceptor Beta 1	Protein Coding	5.49	DISEASES inferred ¹⁴
47	KCNA4	Potassium Voltage-Gated Channel Subfamily A Member 4	Protein Coding	5.46	DISEASES inferred ¹⁴
48	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	5.46	DISEASES inferred ¹⁴
49	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	5.46	DISEASES inferred ¹⁴
50	SLC8A1	Solute Carrier Family 8 Member A1	Protein Coding	5.39	DISEASES inferred ¹⁴

Sources

Variations for Long Qt Syndrome 1

ClinVar genetic disease variations for Long Qt Syndrome 1:

⁵ (show top 50) (show all 1822)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCNE1	NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	SNV	Likely Benign; Risk Factor	13479	rs1805128	GRCh37: 21:35821680-35821680 GRCh38: 21:34449382-34449382
2	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	DUP	Pathogenic Pathogenic Conflicting Interpretations Of Pathogenicity	53027	rs397508104	GRCh37: 11:2869088-2869089 GRCh38: 11:2847858-2847859
3	KCNQ1	NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	SNV	Pathogenic Not Provided	53152	rs199472756	GRCh37: 11:2604716-2604716 GRCh38: 11:2583486-2583486
4	KCNQ1	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	DEL	Pathogenic Pathogenic Pathogenic	53072	rs397508118	GRCh37: 11:2591950-2591954 GRCh38: 11:2570720-2570724
5	KCNQ1	NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	SNV	Pathogenic Pathogenic	52946	rs397508072	GRCh37: 11:2606475-2606475 GRCh38: 11:2585245-2585245
6	KCNQ1	NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	SNV	Pathogenic Pathogenic Not Provided	3140	rs120074190	GRCh37: 11:2799239-2799239 GRCh38: 11:2778009-2778009
7	KCNQ1	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	SNV	Pathogenic Pathogenic Likely Pathogenic	53018	rs199472815	GRCh37: 11:2799254-2799254 GRCh38: 11:2778024-2778024
8	KCNQ1	NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	DEL	Pathogenic	52973	rs397508083	GRCh37: 11:2609949-2609949 GRCh38: 11:2588719-2588719
9	KCNQ1	NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	SNV	Pathogenic Pathogenic Not Provided	52998	rs199472795	GRCh37: 11:2797214-2797214 GRCh38: 11:2775984-2775984
10	KCNQ1	NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)	SNV	Pathogenic Not Provided	53149	rs199472754	GRCh37: 11:2604707-2604707 GRCh38: 11:2583477-2583477
11	KCNQ1	NM_000218.3(KCNQ1):c.477+1G>A	SNV	Pathogenic Pathogenic	200874	rs762814879	GRCh37: 11:2549249-2549249 GRCh38: 11:2528019-2528019
12	KCNQ1	NM_000218.3(KCNQ1):c.1250dup (p.Val418fs)	DUP	Pathogenic	1179766		GRCh37: 11:2608920-2608921 GRCh38: 11:2587690-2587691
13	KCNQ1	NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)	SNV	Pathogenic Not Provided	53000	rs199473480	GRCh37: 11:2797236-2797236 GRCh38: 11:2776006-2776006
14	KCNQ1	NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	DEL	Pathogenic	52962	rs397508077	GRCh37: 11:2606530-2606533 GRCh38: 11:2585300-2585303
15	KCNQ1	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	SNV	Pathogenic Pathogenic	52996	rs397508097	GRCh37: 11:2790147-2790147 GRCh38: 11:2768917-2768917
16	CALM3	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	SNV	Pathogenic	409870	rs1060502607	GRCh37: 19:47112103-47112103 GRCh38: 19:46608846-46608846
17	CALM2	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	SNV	Pathogenic	641544	rs1573214371	GRCh37: 2:47388997-47388997 GRCh38: 2:47161858-47161858
18	CALM2	NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)	SNV	Pathogenic	955533	rs1687164164	GRCh37: 2:47388888-47388888 GRCh38: 2:47161749-47161749
19	KCNQ1	NM_000218.3(KCNQ1):c.603_604+9del	DEL	Pathogenic	200912	rs794728580	GRCh37: 11:2591979-2591989 GRCh38: 11:2570749-2570759
20	KCNQ1	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	SNV	Pathogenic Likely Pathogenic	53083	rs199473456	GRCh37: 11:2592624-2592624 GRCh38: 11:2571394-2571394
21	KCNQ1	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	DUP	Pathogenic	52974	rs397508083	GRCh37: 11:2609948-2609949 GRCh38: 11:2588718-2588719
22	KCNQ1	NM_000218.3(KCNQ1):c.477+5G>A	SNV	Pathogenic Pathogenic Pathogenic	53047	rs397508111	GRCh37: 11:2549253-2549253 GRCh38: 11:2528023-2528023
23	KCNQ1	NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)	SNV	Pathogenic	1723453		GRCh37: 11:2604711-2604711 GRCh38: 11:2583481-2583481
24	KCNQ1	NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	SNV	Pathogenic Likely Pathogenic	52955	rs199473411	GRCh37: 11:2606505-2606505 GRCh38: 11:2585275-2585275
25	KCNQ1	NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	SNV	Pathogenic Pathogenic	3131	rs17215500	GRCh37: 11:2790111-2790111 GRCh38: 11:2768881-2768881
26	KCNQ1	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	SNV	Pathogenic Not Provided	53058	rs199472696	GRCh37: 11:2591900-2591900 GRCh38: 11:2570670-2570670
27	SCN5A	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SNV	Pathogenic Pathogenic Not Provided	9377	rs137854601	GRCh37: 3:38592513-38592513 GRCh38: 3:38551022-38551022
28	DSP	NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	SNV	Pathogenic	405247	rs746877365	GRCh37: 6:7579760-7579760 GRCh38: 6:7579527-7579527
29	KCNQ1	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	DEL	Pathogenic	53076	rs397508120	GRCh37: 11:2591964-2591964 GRCh38: 11:2570734-2570734
30	KCNQ1	NM_000218.3(KCNQ1):c.1685+1G>A	SNV	Pathogenic	200851	rs794728531	GRCh37: 11:2797285-2797285 GRCh38: 11:2776055-2776055
31	KCNQ1	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	SNV	Pathogenic Not Provided	67084	rs120074178	GRCh37: 11:2591949-2591949 GRCh38: 11:2570719-2570719
32	KCNQ1	NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	SNV	Pathogenic	200824	rs120074186	GRCh37: 11:2594209-2594209 GRCh38: 11:2572979-2572979
33	KCNQ1	NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	DEL	Pathogenic Likely Pathogenic	53050	rs397508112	GRCh37: 11:2591868-2591868 GRCh38: 11:2570638-2570638
34	KCNQ1	NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)	SNV	Pathogenic Not Provided	53017	rs199472814	GRCh37: 11:2799245-2799245 GRCh38: 11:2778015-2778015
35	KCNQ1	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	SNV	Pathogenic Not Provided	53100	rs199472719	GRCh37: 11:2593334-2593334 GRCh38: 11:2572104-2572104
36	KCNQ1-AS1, KCNQ1	NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)	SNV	Pathogenic Not Provided	53022	rs199472821	GRCh37: 11:2869078-2869078 GRCh38: 11:2847848-2847848
37	KCNQ1	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	SNV	Pathogenic Pathogenic Not Provided	53087	rs199472709	GRCh37: 11:2593251-2593251 GRCh38: 11:2572021-2572021
38	KCNQ1	NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	SNV	Pathogenic Pathogenic Not Provided	3144	rs120074193	GRCh37: 11:2594100-2594100 GRCh38: 11:2572870-2572870
39	KCNQ1	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	SNV	Pathogenic Likely Pathogenic Likely Pathogenic	52953	rs12720458	GRCh37: 11:2606494-2606494 GRCh38: 11:2585264-2585264
40	KCNQ1	NM_000218.3(KCNQ1):c.796del (p.Leu266fs)	DEL	Pathogenic	53107	rs397508125	GRCh37: 11:2594089-2594089 GRCh38: 11:2572859-2572859
41	KCNQ1	NM_000218.3(KCNQ1):c.1685+2T>C	SNV	Pathogenic	637975	rs1590081467	GRCh37: 11:2797286-2797286 GRCh38: 11:2776056-2776056
42	KCNQ1	NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	SNV	Pathogenic	53124	rs120074186	GRCh37: 11:2594209-2594209 GRCh38: 11:2572979-2572979
43	KCNQ1	NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)	SNV	Pathogenic Not Provided	53064	rs199473397	GRCh37: 11:2591931-2591931 GRCh38: 11:2570701-2570701
44	KCNQ1	NM_000218.3(KCNQ1):c.1251+1G>A	SNV	Pathogenic	812675	rs1589968661	GRCh37: 11:2608923-2608923 GRCh38: 11:2587693-2587693
45	KCNQ1	NM_000218.3(KCNQ1):c.604+2T>C	SNV	Pathogenic	869440	rs1848322089	GRCh37: 11:2591986-2591986 GRCh38: 11:2570756-2570756
46	KCNH2	NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	SNV	Pathogenic	67379	rs199472990	GRCh37: 7:150647400-150647400 GRCh38: 7:150950312-150950312
47	KCNQ1	NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	SNV	Pathogenic Pathogenic	37255	rs151344631	GRCh37: 11:2592563-2592563 GRCh38: 11:2571333-2571333
48	CALM2	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	SNV	Pathogenic	96720	rs398124647	GRCh37: 2:47388990-47388990 GRCh38: 2:47161851-47161851
49	KCNQ1	NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)	DUP	Pathogenic	200915	rs397508109	GRCh37: 11:2466691-2466692 GRCh38: 11:2445461-2445462
50	KCNQ1	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	DEL	Pathogenic	207969	rs878854347	GRCh37: 11:2549214-2549214 GRCh38: 11:2527984-2527984

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 1:

⁷³ (show top 50) (show all 123)

#	Symbol	AA change	Variation ID	SNP ID
1	KCNQ1	p.Gly168Arg	VAR_001516	rs179489
2	KCNQ1	p.Arg174Cys	VAR_001517	rs199472696
3	KCNQ1	p.Ala178Pro	VAR_001518	rs120074177
4	KCNQ1	p.Gly189Arg	VAR_001519	rs104894252
5	KCNQ1	p.Arg190Gln	VAR_001520	rs120074178
6	KCNQ1	p.Gly216Arg	VAR_001521
7	KCNQ1	p.Val254Met	VAR_001522	rs120074179
8	KCNQ1	p.Glu261Lys	VAR_001523	rs199472722
9	KCNQ1	p.Gly269Asp	VAR_001524	rs120074194
10	KCNQ1	p.Leu273Phe	VAR_001525	rs120074180
11	KCNQ1	p.Ala300Thr	VAR_001526	rs120074187
12	KCNQ1	p.Thr309Arg	VAR_001529	rs199472743
13	KCNQ1	p.Thr312Ile	VAR_001530	rs120074182
14	KCNQ1	p.Ile313Met	VAR_001531	rs199472747
15	KCNQ1	p.Gly314Ser	VAR_001532	rs120074184
16	KCNQ1	p.Tyr315Ser	VAR_001533	rs74462309
17	KCNQ1	p.Asp317Asn	VAR_001534	rs199472751
18	KCNQ1	p.Pro320Ala	VAR_001535	rs199472753
19	KCNQ1	p.Gly325Arg	VAR_001536	rs199472756
20	KCNQ1	p.Ala341Glu	VAR_001538	rs12720459
21	KCNQ1	p.Ala341Val	VAR_001539	rs12720459
22	KCNQ1	p.Leu342Phe	VAR_001540	rs199472760
23	KCNQ1	p.Ala344Val	VAR_001541	rs199472763
24	KCNQ1	p.Gly345Glu	VAR_001542	rs120074183
25	KCNQ1	p.Arg366Pro	VAR_001543	rs199473410
26	KCNQ1	p.Ala371Thr	VAR_001544	rs199473412
27	KCNQ1	p.Arg555Cys	VAR_001545	rs120074185
28	KCNQ1	p.Phe157Cys	VAR_008124	rs199472690
29	KCNQ1	p.Tyr184Ser	VAR_008125	rs199473397
30	KCNQ1	p.Gly345Arg	VAR_008126	rs199473471
31	KCNQ1	p.Ser373Pro	VAR_008127	rs199472766
32	KCNQ1	p.Trp392Arg	VAR_008128	rs199472774
33	KCNQ1	p.Arg174His	VAR_008939	rs199472697
34	KCNQ1	p.Asp242Asn	VAR_008940	rs199472712
35	KCNQ1	p.Trp248Arg	VAR_008942	rs199473459
36	KCNQ1	p.Leu250His	VAR_008943	rs199472715
37	KCNQ1	p.Tyr281Cys	VAR_008945	rs199472732
38	KCNQ1	p.Tyr315Cys	VAR_008946	rs74462309
39	KCNQ1	p.Lys318Asn	VAR_008947	rs199472752
40	KCNQ1	p.Arg366Trp	VAR_008948	rs199473411
41	KCNQ1	p.Arg533Trp	VAR_008949	rs199472793
42	KCNQ1	p.Arg539Trp	VAR_008950	rs199472795
43	KCNQ1	p.Thr587Met	VAR_008951	rs120074189
44	KCNQ1	p.Gly589Asp	VAR_008952	rs120074190
45	KCNQ1	p.Arg591His	VAR_008953	rs199472814
46	KCNQ1	p.Leu353Pro	VAR_009180	rs199473403
47	KCNQ1	p.Ala525Thr	VAR_009181	rs120074188
48	KCNQ1	p.Glu160Lys	VAR_009919	rs199473453
49	KCNQ1	p.Ala178Thr	VAR_009920	rs120074177
50	KCNQ1	p.Ala194Pro	VAR_009922	rs199472699

Sources

Expression for Long Qt Syndrome 1

Search GEO for disease gene expression data for Long Qt Syndrome 1.

Sources

Pathways for Long Qt Syndrome 1

Pathways related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 41)

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.48	SCN5A SCN4B SCN10A CALM3 CALM2 CALM1
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	13.06	KCNQ1 KCNJ5 KCNH2 CALM3 CALM2 CALM1
3	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.66	SNTA1 DSP CALM3 CALM2 CALM1 CACNA1C
4	Beta-2 adrenergic-dependent CFTR expression ²² Show member pathways CREB1 phosphorylation through the activation of Adenylate Cyclase ⁶⁶ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² FCGR activation ⁶⁶ FCGR3A-mediated IL10 synthesis ⁶⁶ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Major receptors targeted by epinephrine and norepinephrine ⁷⁴ Neurophysiological process PGE2-induced pain processing ²² PKA activation ⁶⁶ PKA activation in glucagon signalling ⁶⁶ PKA-mediated phosphorylation of CREB ⁶⁶	12.55	CACNA1C CALM1 CALM2 CALM3 SCN10A
5	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 2 - plateau phase 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	12.53	AKAP9 CACNA1C CALM1 CALM2 CALM3 CAV3
6	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.51	CACNA1C CALM1 CALM2 CALM3 KCNJ5 SCN10A
7	Myometrial relaxation and contraction pathways ⁷⁴ Show member pathways Calcium regulation in cardiac cells ⁷⁴	12.45	KCNJ5 CALM3 CALM2 CALM1 CACNA1C
8	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.44	TRDN CALM3 CALM2 CALM1
9	Thromboxane signalling through TP receptor ⁶⁶ Show member pathways ADP signalling through P2Y purinoceptor 1 ⁶⁶ ADP signalling through P2Y purinoceptor 12 ⁶⁶ Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ Development Angiotensin signaling via beta-Arrestin ²² G-protein activation ⁶⁶ Signal amplification ⁶⁶ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁶	12.4	CALM3 CALM2 CALM1 CACNA1C
10	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.25	CALM3 CALM2 CALM1 CACNA1C
11	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.21	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3
12	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	12.19	SCN5A SCN4B SCN10A ANK2
13	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.15	CACNA1C CALM1 CALM2 CALM3
14	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	12.08	CALM3 CALM2 CALM1 AKAP9
15	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	12.05	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
16	Inositol phosphate metabolism ⁶⁶ Show member pathways D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis ⁶¹ D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis ⁶¹ inositol diphosphates biosynthesis ⁶¹ inositol pyrophosphates biosynthesis ⁶¹ myo-inositol de novo biosynthesis ⁶¹ Synthesis of IP2, IP, and Ins in the cytosol ⁶⁶ Synthesis of IP3 and IP4 in the cytosol ⁶⁶ Synthesis of IPs in the ER lumen ⁶⁶ Synthesis of IPs in the nucleus ⁶⁶ Synthesis of pyrophosphates in the cytosol ⁶⁶	11.97	CALM3 CALM2 CALM1
17	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.93	CALM3 CALM2 CALM1 CACNA1C
18	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.92	CALM3 CALM2 CALM1
19	Glycogen metabolism ⁶⁶ Show member pathways Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen synthesis ⁶⁶ Glycogen synthesis and degradation ⁷⁴ Myoclonic epilepsy of Lafora ⁶⁶	11.87	CALM3 CALM2 CALM1
20	Visual Cycle in Retinal Rods ⁶⁴	11.82	CALM3 CALM2 CALM1
21	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.79	CALM3 CALM2 CALM1
22	Unblocking of NMDA receptors, glutamate binding and activation ⁶⁶ Show member pathways Long-term potentiation ⁶⁶ Negative regulation of NMDA receptor-mediated neuronal transmission ⁶⁶ Synaptic adhesion-like molecules ⁶⁶	11.78	CALM3 CALM2 CALM1
23	Uptake and actions of bacterial toxins ⁶⁶ Show member pathways Intestinal infectious diseases ⁶⁶ Neurotoxicity of clostridium toxins ⁶⁶ Toxicity of botulinum toxin type A (botA) ⁶⁶ Toxicity of botulinum toxin type B (botB) ⁶⁶ Toxicity of botulinum toxin type C (botC) ⁶⁶ Toxicity of botulinum toxin type E (botE) ⁶⁶ Toxicity of botulinum toxin type G (botG) ⁶⁶ Toxicity of tetanus toxin (tetX) ⁶⁶ Uptake and function of anthrax toxins ⁶⁶ Uptake and function of diphtheria toxin ⁶⁶	11.72	CALM3 CALM2 CALM1
24	FCERI mediated Ca+2 mobilization ⁶⁶ Show member pathways CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated MAPK activation ⁶⁶	11.71	CALM3 CALM2 CALM1
25	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.68	CALM1 CALM2 CALM3
26	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling ⁶⁶ Show member pathways Ras activation upon Ca2+ influx through NMDA receptor ⁶⁶ RSK activation ⁶⁶	11.55	CALM3 CALM2 CALM1
27	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.48	CALM3 CALM2 CALM1
28	THC Differentiation Pathway ⁶⁴	11.46	CALM3 CALM2 CALM1
29	Smooth Muscle Contraction ⁶⁶	11.41	CAV3 CALM3 CALM2 CALM1
30	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁶ Show member pathways B-Cell Receptor Complex ⁶⁴ CD22 mediated BCR regulation ⁶⁶	11.36	CALM3 CALM2 CALM1
31	Metabolism of nitric oxide: NOS3 activation and regulation ⁶⁶ Show member pathways EGF/EGFR signaling pathway ⁷⁴ eNOS activation ⁶⁶ NOSIP mediated eNOS trafficking ⁶⁶ NOSTRIN mediated eNOS trafficking ⁶⁶	11.34	CALM3 CALM2 CALM1
32	Phase 0 - rapid depolarisation ⁶⁶	11.33	SCN5A SCN4B SCN10A CALM3 CALM2 CALM1
33	Nur77 Signaling in T-Cell ⁶⁴	11.3	CALM3 CALM2 CALM1
34	Interaction between L1 and Ankyrins ⁶⁶	11.2	SCN5A SCN4B SCN10A ANK2
35	nNOS Signaling at Neuronal Synapses ⁶⁴	11.17	CALM3 CALM2 CALM1
36	RAS processing ⁶⁶	11.13	CALM3 CALM2 CALM1
37	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.06	ANK2 CACNA1C DSP KCNE1 KCNE2 KCNH2
38	VEGFR2 mediated cell proliferation ⁶⁶	10.99	CALM3 CALM2 CALM1
39	Protein methylation ⁶⁶	10.93	CALM1 CALM2 CALM3
40	Genes targeted by miRNAs in adipocytes ⁷⁴	10.78	KCNE1 KCNQ1
41	Estradiol regulation in porto-sinusoidal vascular disease ⁷⁴	10.45	CALM3 CALM2 CALM1

Sources

GO Terms for Long Qt Syndrome 1

Cellular components related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016021	10.77	TRDN SCN5A SCN4B SCN10A KCNQ1 KCNJ5
2	membrane	GO:0016020	10.77	TRDN SNTA1 SCN5A SCN4B SCN10A KCNQ1
3	plasma membrane	GO:0005886	10.7	ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3
4	plasma membrane	GO:0005887	10.7	CACNA1C CAV3 KCNH2
5	vesicle	GO:0031982	10.14	CALM1 CALM2 CALM3 CAV3
6	Z disc	GO:0030018	10.02	ANK2 CACNA1C CAV3 KCNE1 SCN5A
7	sarcomere	GO:0030017	10	CALM3 CALM2 CALM1
8	sperm midpiece	GO:0097225	9.99	CALM3 CALM2 CALM1
9	spindle microtubule	GO:0005876	9.97	CALM3 CALM2 CALM1
10	myelin sheath	GO:0043209	9.95	CALM1 CALM2 CALM3
11	calcium channel complex	GO:0034704	9.91	CALM1 CALM2 CALM3
12	catalytic complex	GO:1902494	9.88	CALM3 CALM2 CALM1
13	voltage-gated sodium channel complex	GO:0001518	9.85	SCN5A SCN4B SCN10A
14	sarcolemma	GO:0042383	9.81	SNTA1 SCN5A CAV3 CACNA1C ANK2
15	T-tubule	GO:0030315	9.8	SCN5A CAV3 CACNA1C ANK2
16	potassium channel complex	GO:0034705	9.73	KCNQ1 AKAP9
17	intercalated disc	GO:0014704	9.65	ANK2 CAV3 DSP SCN4B SCN5A
18	voltage-gated potassium channel complex	GO:0008076	9.58	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1 CALM3

Biological processes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 71)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.31	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
2	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	10.26	SCN4B KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
3	potassium ion import across plasma membrane	GO:1990573	10.24	KCNQ1 KCNJ5 KCNH2 KCNE2
4	cardiac muscle contraction	GO:0060048	10.24	SCN5A SCN4B KCNQ1 KCNH2
5	positive regulation of protein serine/threonine kinase activity	GO:0071902	10.22	CALM3 CALM2 CALM1
6	G2/M transition of mitotic cell cycle	GO:0000086	10.21	CALM1 CALM2 CALM3
7	response to calcium ion	GO:0051592	10.21	CALM1 CALM2 CALM3
8	cellular response to cAMP	GO:0071320	10.21	KCNQ1 KCNE1 AKAP9
9	substantia nigra development	GO:0021762	10.2	CALM3 CALM2 CALM1
10	regulation of heart rate by cardiac conduction	GO:0086091	10.2	SCN5A SCN4B KCNQ1 KCNJ5 KCNH2 KCNE2
11	regulation of cytokinesis	GO:0032465	10.19	CALM3 CALM2 CALM1
12	positive regulation of DNA binding	GO:0043388	10.18	CALM3 CALM2 CALM1
13	sodium ion transport	GO:0006814	10.18	SCN5A SCN4B SCN10A KCNQ1
14	positive regulation of protein dephosphorylation	GO:0035307	10.17	CALM3 CALM2 CALM1
15	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	10.17	CALM3 CALM2 CALM1
16	positive regulation of protein autophosphorylation	GO:0031954	10.17	CALM3 CALM2 CALM1
17	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	10.17	TRDN CALM3 CALM2 CALM1
18	regulation of potassium ion transmembrane transport	GO:1901379	10.16	KCNE1 KCNE2 KCNH2
19	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	10.16	CALM3 CALM2 CALM1
20	potassium ion export across plasma membrane	GO:0097623	10.16	KCNE1 KCNE2 KCNH2 KCNQ1
21	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	10.16	ANK2 CACNA1C CALM1 CALM2 CALM3
22	regulation of calcium-mediated signaling	GO:0050848	10.15	CALM3 CALM2 CALM1
23	positive regulation of phosphoprotein phosphatase activity	GO:0032516	10.15	CALM1 CALM2 CALM3
24	monoatomic ion transport	GO:0006811	10.15	SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2
25	regulation of cardiac muscle contraction	GO:0055117	10.15	SCN10A CAV3 CALM3 CALM2 CALM1 ANK2
26	membrane depolarization during action potential	GO:0086010	10.14	KCNH2 SCN10A SCN5A
27	positive regulation of potassium ion transmembrane transport	GO:1901381	10.14	KCNQ1 KCNH2 KCNE1
28	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	10.14	TRDN CALM3 CALM2 CALM1
29	detection of calcium ion	GO:0005513	10.13	CALM3 CALM2 CALM1
30	membrane depolarization during cardiac muscle cell action potential	GO:0086012	10.13	CACNA1C SCN4B SCN5A
31	regulation of membrane repolarization	GO:0060306	10.13	KCNQ1 KCNH2 KCNE2 AKAP9
32	cardiac muscle cell action potential involved in contraction	GO:0086002	10.13	SCN5A SCN4B KCNE2 KCNE1 CACNA1C
33	potassium ion transport	GO:0006813	10.11	KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
34	membrane repolarization during action potential	GO:0086011	10.11	KCNE1 KCNE2 KCNH2 KCNQ1
35	membrane repolarization during cardiac muscle cell action potential	GO:0086013	10.1	KCNE1 KCNH2 KCNQ1
36	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	10.1	CALM3 CALM2 CALM1
37	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	10.1	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
38	atrial cardiac muscle cell action potential	GO:0086014	10.09	SCN5A KCNQ1 ANK2
39	monoatomic ion transmembrane transport	GO:0034220	10.09	SCN5A SCN10A KCNQ1 KCNJ5 KCNH2 CACNA1C
40	membrane repolarization	GO:0086009	10.09	KCNQ1 KCNH2 KCNE2 KCNE1
41	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	10.08	TRDN CALM3 CALM2 CALM1
42	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	10.07	CALM3 CALM2 CALM1
43	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	10.07	CALM1 CALM2 CALM3
44	negative regulation of calcium ion export across plasma membrane	GO:1905913	10.06	CALM3 CALM2 CALM1
45	regulation of monoatomic ion transmembrane transport	GO:0034765	10.06	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
46	negative regulation of potassium ion transmembrane transport	GO:1901380	10.05	KCNH2 CAV3
47	AV node cell action potential	GO:0086016	10.05	SCN5A SCN4B SCN10A
48	regulation of sodium ion transmembrane transport	GO:1902305	10.04	SNTA1 SCN5A
49	T-tubule organization	GO:0033292	10.04	CAV3 ANK2
50	regulation of atrial cardiac muscle cell membrane depolarization	GO:0060371	10.04	SCN5A SCN10A

Molecular functions related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	scaffold protein binding	GO:0097110	10.15	SCN5A KCNQ1 KCNH2 DSP
2	protein serine/threonine kinase activator activity	GO:0043539	10.1	CALM3 CALM2 CALM1
3	potassium channel regulator activity	GO:0015459	10.09	KCNE2 KCNE1 AKAP9
4	disordered domain specific binding	GO:0097718	10.08	CALM1 CALM2 CALM3
5	voltage-gated potassium channel activity	GO:0005249	10.08	KCNE1 KCNE2 KCNH2 KCNQ1
6	sodium channel regulator activity	GO:0017080	10.07	SNTA1 SCN4B CAV3
7	enzyme regulator activity	GO:0030234	10.06	CALM3 CALM2 CALM1
8	inward rectifier potassium channel activity	GO:0005242	10.05	KCNE2 KCNH2 KCNJ5
9	voltage-gated sodium channel activity	GO:0005248	10.04	SCN5A SCN4B SCN10A
10	delayed rectifier potassium channel activity	GO:0005251	10.01	KCNQ1 KCNH2 KCNE2 KCNE1
11	protein phosphatase activator activity	GO:0072542	9.99	CALM3 CALM2 CALM1
12	titin binding	GO:0031432	9.97	CALM3 CALM2 CALM1
13	adenylate cyclase binding	GO:0008179	9.95	CALM1 CALM2 CALM3
14	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.91	SCN5A SCN4B
15	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.91	KCNQ1 KCNJ5
16	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.91	KCNQ1 KCNH2 KCNE1
17	nitric-oxide synthase binding	GO:0050998	9.86	SNTA1 SCN5A CAV3 CALM3
18	monoatomic ion channel activity	GO:0005216	9.85	SCN5A SCN10A KCNQ1 KCNH2 CACNA1C
19	adenylate cyclase activator activity	GO:0010856	9.85	CALM1 CALM2 CALM3
20	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.85	KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
21	potassium channel activity	GO:0005267	9.83	KCNQ1 KCNH2 KCNE2 KCNE1
22	N-terminal myristoylation domain binding	GO:0031997	9.8	CALM3 CALM2 CALM1
23	transmembrane transporter binding	GO:0044325	9.77	AKAP9 ANK2 CALM1 CALM2 CALM3 CAV3
24	sodium channel activity	GO:0005272	9.73	SCN5A SCN4B SCN10A
25	voltage-gated monoatomic ion channel activity	GO:0005244	9.7	SCN5A SCN4B SCN10A KCNQ1 KCNJ5 KCNH2

Sources

Sources for Long Qt Syndrome 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LQT1 MCID: LNG044 MIFTS: 67	Long Qt Syndrome 1 (LQT1) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Long Qt Syndrome 1 (LQT1)

Aliases & Classifications for Long Qt Syndrome 1

MalaCards integrated aliases for Long Qt Syndrome 1:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 1

Related Diseases for Long Qt Syndrome 1

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 1:

Symptoms & Phenotypes for Long Qt Syndrome 1

Human phenotypes related to Long Qt Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Long Qt Syndrome 1:

GenomeRNAi Phenotypes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Long Qt Syndrome 1:

Drugs & Therapeutics for Long Qt Syndrome 1

Drugs for Long Qt Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Long Qt Syndrome 1

Genetic tests related to Long Qt Syndrome 1:

Anatomical Context for Long Qt Syndrome 1

Organs/tissues related to Long Qt Syndrome 1:

Publications for Long Qt Syndrome 1

Articles related to Long Qt Syndrome 1:

Genes for Long Qt Syndrome 1

Genes related to Long Qt Syndrome 1 (22 elite genes):

Variations for Long Qt Syndrome 1

ClinVar genetic disease variations for Long Qt Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 1:

Expression for Long Qt Syndrome 1

Pathways for Long Qt Syndrome 1

Pathways related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 1

Cellular components related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 1