MCID: JRV004
MIFTS: 53

Jervell and Lange-Nielsen Syndrome 1

Categories: Genetic diseases, Rare diseases, Ear diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Jervell and Lange-Nielsen Syndrome 1

MalaCards integrated aliases for Jervell and Lange-Nielsen Syndrome 1:

Name: Jervell and Lange-Nielsen Syndrome 1 57 75 29 6
Jervell and Lange-Nielsen Syndrome 57 76 24 25 59 37 29 13 6 40
Jervell-Lange Nielsen Syndrome 12 25 44 15 73
Cardioauditory Syndrome of Jervell and Lange-Nielsen 57 53 25 75
Prolonged Qt Interval in Ekg and Sudden Death 57 53 25 75
Surdo-Cardiac Syndrome 57 53 25 75
Deafness, Congenital, and Functional Heart Disease 57 53 25
Jlns1 57 53 75
Jlns 24 25
Congenital Deafness and Functional Heart Disease 75
Autosomal Recessive Long Qt Syndrome 25
Jervell and Lange-Nielson Syndrome 12
Long Qt Interval-Deafness Syndrome 59
Cardio-Auditory-Syncope Syndrome 25
Jervell Lange-Nielsen Syndrome 53
Long Qt Interval-Deafness 75

Characteristics:

Orphanet epidemiological data:

59
jervell and lange-nielsen syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
jervell and lange-nielsen syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 220400
Disease Ontology 12 DOID:2842
MeSH 44 D029593
NCIt 50 C84793
SNOMED-CT 68 373905003 49518001
Orphanet 59 ORPHA90647
MESH via Orphanet 45 D029593
UMLS via Orphanet 74 C0022387
ICD10 via Orphanet 34 I45.8
KEGG 37 H02091
UMLS 73 C0022387

Summaries for Jervell and Lange-Nielsen Syndrome 1

NIH Rare Diseases : 53 Jervell Lange-Nielsen syndrome (JLNS) is an inherited disorder characterized by deafness present at birth and abnormalities of the electrical system of the heart. It is a form of long QT syndrome. This refers to the QT interval measurement seen on the electrocardiogram. The severity of cardiac symptoms seen in individuals varies from no apparent symptoms to increasing heartbeat (tachycardia), fainting, and cardiac arrest. There are two different types of JLNS type: 1, caused by mutations in the KCNQ1 gene, and type 2, caused by mutations in the KCNE1 gene. Both types are inherited in an autosomal recessive manner. The treatment of individuals with JLNS focuses on treating hearing loss utilizing devices such as cochlear implants and preventing other symptoms such as fainting and cardiac arrest.

MalaCards based summary : Jervell and Lange-Nielsen Syndrome 1, also known as jervell and lange-nielsen syndrome, is related to long qt syndrome and long qt syndrome 1, and has symptoms including syncope An important gene associated with Jervell and Lange-Nielsen Syndrome 1 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Adrenergic signaling in cardiomyocytes and Aldosterone synthesis and secretion. The drugs Ibutilide and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are syncope and sudden cardiac death

OMIM : 57 The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957). (220400)

UniProtKB/Swiss-Prot : 75 Jervell and Lange-Nielsen syndrome 1: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.

Genetics Home Reference : 25 Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and 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. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.

Wikipedia : 76 Jervell and Lange-Nielsen syndrome (JLNS) is a type of long QT syndrome associated with severe,... more...

GeneReviews: NBK1405

Related Diseases for Jervell and Lange-Nielsen Syndrome 1

Diseases in the Jervell and Lange-Nielsen Syndrome 1 family:

Jervell and Lange-Nielsen Syndrome 2

Diseases related to Jervell and Lange-Nielsen Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 27.2 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
2 long qt syndrome 1 26.7 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
3 jervell and lange-nielsen syndrome 2 11.7
4 familial short qt syndrome 10.3 KCNH2 KCNQ1
5 brugada syndrome 1 10.1 KCNH2 SCN5A
6 cardiac conduction defect 10.0 KCNH2 KCNQ1 SCN5A
7 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 KCNH2 KCNQ1 SCN5A
8 syncope 9.9 KCNH2 KCNQ1 SCN5A
9 long qt syndrome 9 9.9 CAV3 SCN5A
10 heart conduction disease 9.9 KCNH2 KCNQ1 SCN5A
11 right bundle branch block 9.7 CACNA1C SCN5A
12 andersen cardiodysrhythmic periodic paralysis 9.6 KCNE2 KCNH2 KCNQ1 SCN5A
13 timothy syndrome 9.6 CACNA1C KCNE1 KCNH2 KCNQ1
14 long qt syndrome 12 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
15 long qt syndrome 3 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
16 long qt syndrome 5 9.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 intrinsic cardiomyopathy 9.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 atrioventricular block 9.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 short qt syndrome 9.2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
20 long qt syndrome 13 9.1 KCNH2 KCNQ1 NOTCH1 SCN5A
21 sudden infant death syndrome 9.1 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
22 atrial fibrillation 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
23 long qt syndrome 2 8.8 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 ventricular fibrillation, paroxysmal familial, 1 8.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 long qt syndrome 6 8.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 cardiac arrhythmia 8.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 dilated cardiomyopathy 8.7 CACNA1C KCNH2 KCNQ1 SCN5A
28 familial atrial fibrillation 8.6 KCNE1 KCNE2 KCNH2 KCNQ1 KCNQ1-AS1 SCN4B
29 heart disease 8.5 KCNE2 KCNH2 KCNQ1 NOTCH1 SCN5A
30 brugada syndrome 7.9 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

Graphical network of the top 20 diseases related to Jervell and Lange-Nielsen Syndrome 1:



Diseases related to Jervell and Lange-Nielsen Syndrome 1

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
congenital sensorineural hearing loss

Cardiovascular Heart:
prolonged qt interval seen on ekg
syncope
torsades de pointes
sudden cardiac death


Clinical features from OMIM:

220400

Human phenotypes related to Jervell and Lange-Nielsen Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 prolonged qt interval 32 HP:0001657
4 torsade de pointes 32 HP:0001664
5 congenital sensorineural hearing impairment 32 HP:0008527

UMLS symptoms related to Jervell and Lange-Nielsen Syndrome 1:


syncope

GenomeRNAi Phenotypes related to Jervell and Lange-Nielsen Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.89 CDK9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.89 CDK9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.89 SCN5A CDK9
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.89 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.89 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.89 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.89 SCN5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.89 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.89 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.89 NOTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.89 CDK9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.89 CDK9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.89 NOTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.89 KCNE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.89 CDK9 KCNE1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.89 CDK9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.89 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.89 SCN5A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.89 NOTCH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.89 KCNE1 NOTCH1 SCN5A CDK9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.89 KCNE1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.89 SCN5A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.89 CDK9
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.89 KCNE1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.89 SCN5A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 SCN5A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.89 KCNE1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.89 NOTCH1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.89 KCNE1 NOTCH1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.89 KCNE1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.89 KCNE1

MGI Mouse Phenotypes related to Jervell and Lange-Nielsen Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CACNA1C CAV3 CDK9 KCNH2 KCNQ1 NOTCH1
2 muscle MP:0005369 9.1 SCN5A CACNA1C CAV3 KCNH2 KCNQ1 NOTCH1

Drugs & Therapeutics for Jervell and Lange-Nielsen Syndrome 1

Drugs for Jervell and Lange-Nielsen Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5
Testosterone enanthate Approved Phase 4 315-37-7 9416
6
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
7 Anabolic Agents Phase 4
8 Androgens Phase 4
9 Anti-Arrhythmia Agents Phase 4,Phase 2
10 Antineoplastic Agents, Hormonal Phase 4
11 Hormone Antagonists Phase 4,Phase 2
12 Hormones Phase 4,Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
14 Progestins Phase 4,Phase 2
15 Testosterone 17 beta-cypionate Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT02513940 Phase 4 Testosterone;Progesterone;Placebo;Ibutilide
2 Influence of Progesterone Administration on Drug-Induced QT Interval Lengthening Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide
3 The Long QT Syndrome in Pregnancy Completed NCT00488254
4 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Active, not recruiting NCT03544918

Search NIH Clinical Center for Jervell and Lange-Nielsen Syndrome 1

Cochrane evidence based reviews: jervell-lange nielsen syndrome

Genetic Tests for Jervell and Lange-Nielsen Syndrome 1

Genetic tests related to Jervell and Lange-Nielsen Syndrome 1:

# Genetic test Affiliating Genes
1 Jervell and Lange-Nielsen Syndrome 1 29 KCNQ1
2 Jervell and Lange-Nielsen Syndrome 29

Anatomical Context for Jervell and Lange-Nielsen Syndrome 1

MalaCards organs/tissues related to Jervell and Lange-Nielsen Syndrome 1:

41
Heart

Publications for Jervell and Lange-Nielsen Syndrome 1

Articles related to Jervell and Lange-Nielsen Syndrome 1:

(show top 50) (show all 54)
# Title Authors Year
1
Novel frameshift mutation in the<i>KCNQ1</i>gene responsible for Jervell and Lange-Nielsen syndrome. ( 29372044 )
2018
2
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. ( 28364778 )
2017
3
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. ( 28595573 )
2017
4
The Jervell and Lange-Nielsen syndrome; atrial pacing combined with A9-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome? ( 27451284 )
2016
5
Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy. ( 27330206 )
2016
6
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome. ( 27917693 )
2016
7
Difficult management of Jervell and Lange-Nielsen syndrome: An endless searchEditorial Commentary. ( 27520542 )
2016
8
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. ( 27041150 )
2016
9
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. ( 27286732 )
2016
10
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature. ( 26205899 )
2015
11
Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome. ( 26153335 )
2015
12
A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations. ( 26702227 )
2015
13
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. ( 24372464 )
2015
14
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
15
Human iPS cell models of Jervell and Lange-Nielsen syndrome. ( 26481773 )
2015
16
Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery. ( 25558210 )
2015
17
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. ( 25471708 )
2015
18
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. ( 25187895 )
2014
19
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome. ( 25459999 )
2014
20
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome. ( 24125535 )
2014
21
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene. ( 26022593 )
2014
22
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. ( 25453094 )
2014
23
Turkish perspective of Jervell and Lange-Nielsen syndrome. ( 23661983 )
2013
24
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. ( 22805636 )
2013
25
Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members. ( 23668803 )
2013
26
Type 2 short QT syndrome and vestibular dysfunction: Mirror of the Jervell and Lange-Nielsen syndrome? ( 24380499 )
2013
27
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family. ( 23400408 )
2013
28
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. ( 22539601 )
2012
29
Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale. ( 22333885 )
2012
30
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. ( 22629021 )
2012
31
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? ( 21118729 )
2011
32
[Myocardial infarction without coronary arteries stenoses in a patient with Jervell and Lange-Nielsen syndrome--diagnostic dilemmas]. ( 21850631 )
2011
33
Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. ( 21380488 )
2011
34
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. ( 20890437 )
2010
35
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. ( 19027783 )
2008
36
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. ( 18595190 )
2008
37
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. ( 18441444 )
2008
38
[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome]. ( 17646758 )
2007
39
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. ( 16987820 )
2006
40
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. ( 16911578 )
2006
41
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. ( 16461811 )
2006
42
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome]. ( 15924777 )
2005
43
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). ( 14510661 )
2003
44
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. ( 12051962 )
2002
45
Cochlear implantation in Jervell and Lange-Nielsen syndrome. ( 12443809 )
2002
46
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. ( 11226272 )
2001
47
Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation. ( 10593671 )
1999
48
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. ( 10077519 )
1999
49
Jervell and Lange-Nielsen syndrome: a Norwegian perspective. ( 10704188 )
1999
50
Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome. ( 9670922 )
1998

Variations for Jervell and Lange-Nielsen Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Jervell and Lange-Nielsen Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Trp305Ser VAR_001527 rs120074186
2 KCNQ1 p.Arg243His VAR_008941 rs120074196
3 KCNQ1 p.Glu261Asp VAR_008944 rs199472721
4 KCNQ1 p.Gly589Asp VAR_008952 rs120074190
5 KCNQ1 p.Thr311Ile VAR_009927 rs199472746
6 KCNQ1 p.Trp248Phe VAR_074689 rs397508123
7 KCNQ1 p.Thr322Met VAR_074692 rs199472755

ClinVar genetic disease variations for Jervell and Lange-Nielsen Syndrome 1:

6
(show top 50) (show all 321)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.914G> C (p.Trp305Ser) single nucleotide variant Pathogenic/Likely pathogenic rs120074186 GRCh37 Chromosome 11, 2594209: 2594209
2 KCNQ1 NM_000218.2(KCNQ1): c.914G> C (p.Trp305Ser) single nucleotide variant Pathogenic/Likely pathogenic rs120074186 GRCh38 Chromosome 11, 2572979: 2572979
3 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh37 Chromosome 11, 2790111: 2790111
4 KCNQ1 NM_000218.2(KCNQ1): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs17215500 GRCh38 Chromosome 11, 2768881: 2768881
5 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
6 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh38 Chromosome 11, 2778003: 2778003
7 KCNQ1 KCNQ1, IVS1 undetermined variant Pathogenic
8 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
9 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh38 Chromosome 11, 2778009: 2778009
10 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
11 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
12 KCNQ1 NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) indel Pathogenic rs397515637 GRCh37 Chromosome 11, 2797229: 2797234
13 KCNQ1 NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) indel Pathogenic rs397515637 GRCh38 Chromosome 11, 2775999: 2776004
14 KCNQ1 NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs) deletion Pathogenic rs397508103 GRCh37 Chromosome 11, 2869094: 2869113
15 KCNQ1 NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs) deletion Pathogenic rs397508103 GRCh38 Chromosome 11, 2847864: 2847883
16 KCNQ1 NM_000218.2(KCNQ1): c.451_452delCT (p.Leu151Glyfs) deletion Pathogenic rs397508110 GRCh37 Chromosome 11, 2549222: 2549223
17 KCNQ1 NM_000218.2(KCNQ1): c.451_452delCT (p.Leu151Glyfs) deletion Pathogenic rs397508110 GRCh38 Chromosome 11, 2527992: 2527993
18 KCNQ1 NM_000218.2(KCNQ1): c.488delT (p.Leu163Argfs) deletion Pathogenic/Likely pathogenic rs397508112 GRCh37 Chromosome 11, 2591868: 2591868
19 KCNQ1 NM_000218.2(KCNQ1): c.488delT (p.Leu163Argfs) deletion Pathogenic/Likely pathogenic rs397508112 GRCh38 Chromosome 11, 2570638: 2570638
20 KCNQ1 NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs) duplication Pathogenic rs397508117 GRCh37 Chromosome 11, 2591947: 2591947
21 KCNQ1 NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs) duplication Pathogenic rs397508117 GRCh38 Chromosome 11, 2570717: 2570717
22 KCNQ1 NM_000218.2(KCNQ1): c.573_577delGCGCT (p.Arg192Cysfs) deletion Pathogenic rs397508118 GRCh37 Chromosome 11, 2591953: 2591957
23 KCNQ1 NM_000218.2(KCNQ1): c.573_577delGCGCT (p.Arg192Cysfs) deletion Pathogenic rs397508118 GRCh38 Chromosome 11, 2570723: 2570727
24 KCNQ1 NM_000218.2(KCNQ1): c.585delG (p.Lys196Serfs) deletion Pathogenic/Likely pathogenic rs397508120 GRCh37 Chromosome 11, 2591965: 2591965
25 KCNQ1 NM_000218.2(KCNQ1): c.585delG (p.Lys196Serfs) deletion Pathogenic/Likely pathogenic rs397508120 GRCh38 Chromosome 11, 2570735: 2570735
26 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh37 Chromosome 11, 2549206: 2549206
27 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh38 Chromosome 11, 2527976: 2527976
28 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
29 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh38 Chromosome 11, 2570663: 2570663
30 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh37 Chromosome 11, 2549257: 2549257
31 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh38 Chromosome 11, 2528027: 2528027
32 KCNE1 NM_000219.5(KCNE1): c.84G> A (p.Ser28=) single nucleotide variant Benign/Likely benign rs17173510 GRCh37 Chromosome 21, 35821849: 35821849
33 KCNE1 NM_000219.5(KCNE1): c.84G> A (p.Ser28=) single nucleotide variant Benign/Likely benign rs17173510 GRCh38 Chromosome 21, 34449551: 34449551
34 KCNE1 NM_000219.5(KCNE1): c.30G> A (p.Thr10=) single nucleotide variant Benign/Likely benign rs187686559 GRCh37 Chromosome 21, 35821903: 35821903
35 KCNE1 NM_000219.5(KCNE1): c.30G> A (p.Thr10=) single nucleotide variant Benign/Likely benign rs187686559 GRCh38 Chromosome 21, 34449605: 34449605
36 KCNQ1 NM_000218.2(KCNQ1): c.826delT (p.Ser276Profs) deletion Likely pathogenic rs786204778 GRCh37 Chromosome 11, 2594121: 2594121
37 KCNQ1 NM_000218.2(KCNQ1): c.826delT (p.Ser276Profs) deletion Likely pathogenic rs786204778 GRCh38 Chromosome 11, 2572891: 2572891
38 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh38 Chromosome 11, 2585289: 2585289
39 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh37 Chromosome 11, 2606519: 2606519
40 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
41 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
42 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh38 Chromosome 11, 2847847: 2847847
43 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh37 Chromosome 11, 2869077: 2869077
44 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh37 Chromosome 11, 2466291: 2466291
45 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh38 Chromosome 11, 2445061: 2445061
46 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh37 Chromosome 11, 2683314: 2683314
47 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh38 Chromosome 11, 2662084: 2662084
48 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh37 Chromosome 11, 2683320: 2683320
49 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh38 Chromosome 11, 2662090: 2662090
50 KCNQ1 NM_000218.2(KCNQ1): c.1514+4974G> A single nucleotide variant Likely benign rs188083723 GRCh37 Chromosome 11, 2688285: 2688285

Expression for Jervell and Lange-Nielsen Syndrome 1

Search GEO for disease gene expression data for Jervell and Lange-Nielsen Syndrome 1.

Pathways for Jervell and Lange-Nielsen Syndrome 1

Pathways related to Jervell and Lange-Nielsen Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 Adrenergic signaling in cardiomyocytes hsa04261

Pathways related to Jervell and Lange-Nielsen Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 CACNA1C KCNE1 KCNQ1 SCN4B SCN5A
2
Show member pathways
12.49 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
3 12.08 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
4 11.87 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
5
Show member pathways
11.31 CACNA1C KCNE1 KCNE2 KCNQ1 SCN4B SCN5A
6 10.92 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
7 10.91 SCN4B SCN5A
8 10.68 KCNE1 KCNQ1

GO Terms for Jervell and Lange-Nielsen Syndrome 1

Cellular components related to Jervell and Lange-Nielsen Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.58 CAV3 KCNE1 KCNQ1
2 T-tubule GO:0030315 9.46 CAV3 SCN5A
3 Z disc GO:0030018 9.46 CACNA1C CAV3 KCNE1 SCN5A
4 intercalated disc GO:0014704 9.43 CAV3 SCN4B SCN5A
5 cell surface GO:0009986 9.43 CAV3 KCNE1 KCNE2 KCNH2 NOTCH1 SCN5A
6 voltage-gated sodium channel complex GO:0001518 9.32 SCN4B SCN5A
7 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1
8 integral component of membrane GO:0016021 10.09 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
9 plasma membrane GO:0005886 10.02 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

Biological processes related to Jervell and Lange-Nielsen Syndrome 1 according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 CACNA1C KCNH2 KCNQ1 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.91 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
3 potassium ion transport GO:0006813 9.89 KCNE1 KCNE2 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
5 cardiac muscle contraction GO:0060048 9.81 KCNH2 KCNQ1 SCN4B SCN5A
6 cellular response to drug GO:0035690 9.8 KCNE2 KCNH2 KCNQ1
7 regulation of membrane repolarization GO:0060306 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
8 membrane repolarization GO:0086009 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
9 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
10 membrane depolarization during action potential GO:0086010 9.75 CACNA1C KCNH2 SCN5A
11 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE1 KCNE2 KCNH2
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNE1 KCNH2 KCNQ1
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
14 cardiac conduction GO:0061337 9.73 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 CACNA1C SCN4B SCN5A
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 CACNA1C KCNE1 KCNE2 SCN4B SCN5A
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNE1 KCNH2 KCNQ1
18 membrane repolarization during action potential GO:0086011 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
19 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.7 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
20 regulation of heart contraction GO:0008016 9.67 CAV3 KCNQ1
21 regulation of heart rate GO:0002027 9.66 CAV3 SCN5A
22 regulation of sodium ion transmembrane transporter activity GO:2000649 9.66 CAV3 SCN4B
23 positive regulation of sodium ion transport GO:0010765 9.65 SCN4B SCN5A
24 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.65 KCNE1 KCNE2
25 atrial cardiac muscle cell action potential GO:0086014 9.65 KCNQ1 SCN5A
26 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.64 CAV3 SCN5A
27 negative regulation of potassium ion transmembrane transport GO:1901380 9.64 CAV3 KCNH2
28 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
29 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 KCNQ1 SCN5A
30 membrane depolarization during AV node cell action potential GO:0086045 9.62 CACNA1C SCN5A
31 potassium ion export across plasma membrane GO:0097623 9.61 KCNH2 KCNQ1
32 AV node cell action potential GO:0086016 9.61 SCN4B SCN5A
33 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 CACNA1C SCN5A
34 regulation of heart rate by cardiac conduction GO:0086091 9.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
35 ventricular cardiac muscle cell action potential GO:0086005 9.1 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
36 ion transport GO:0006811 10.07 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B

Molecular functions related to Jervell and Lange-Nielsen Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.73 CACNA1C KCNQ1 PNCK SCN5A
2 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
3 ion channel activity GO:0005216 9.69 CACNA1C KCNH2 SCN5A
4 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.65 KCNH2 KCNQ1 SCN5A
6 ion channel binding GO:0044325 9.65 CAV3 KCNE2 KCNQ1 SCN4B SCN5A
7 potassium channel regulator activity GO:0015459 9.57 KCNE1 KCNE2
8 sodium channel regulator activity GO:0017080 9.56 CAV3 SCN4B
9 sodium channel activity GO:0005272 9.55 SCN4B SCN5A
10 voltage-gated sodium channel activity GO:0005248 9.54 SCN4B SCN5A
11 inward rectifier potassium channel activity GO:0005242 9.52 KCNE2 KCNH2
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNE1 KCNH2 KCNQ1
13 nitric-oxide synthase binding GO:0050998 9.49 CAV3 SCN5A
14 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.46 SCN4B SCN5A
15 delayed rectifier potassium channel activity GO:0005251 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
16 voltage-gated ion channel activity GO:0005244 9.43 CACNA1C KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.92 KCNE1 KCNE2 KCNH2 KCNQ1

Sources for Jervell and Lange-Nielsen Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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