JLNS1
MCID: JRV004
MIFTS: 55

Jervell and Lange-Nielsen Syndrome 1 (JLNS1)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare 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 heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 220400
Disease Ontology 12 DOID:2842
MeSH 44 D029593
NCIt 50 C84793
SNOMED-CT 68 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 cardiac arrest and short qt syndrome, 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 Cardiac conduction. Affiliated tissues include heart and salivary gland, and related phenotypes are sudden cardiac death and prolonged qt interval

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.

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.

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 40)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 30.6 KCNH2 KCNQ1 SCN5A
2 short qt syndrome 30.2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
3 long qt syndrome 29.6 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
4 long qt syndrome 1 29.5 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
5 jervell and lange-nielsen syndrome 2 11.9
6 sinoatrial node dysfunction and deafness 11.6
7 myocardial infarction 10.4
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
9 iron metabolism disease 10.4
10 familial short qt syndrome 10.1 KCNH2 KCNQ1
11 benign neonatal seizures 10.1 KCNE2 KCNQ1
12 brugada syndrome 1 10.1 KCNH2 SCN5A
13 third-degree atrioventricular block 10.1 KCNE2 SCN5A
14 long qt syndrome 9 10.0 CAV3 SCN5A
15 cardiac conduction defect 10.0 KCNH2 KCNQ1 SCN5A
16 syncope 10.0 KCNH2 KCNQ1 SCN5A
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 KCNH2 KCNQ1 SCN5A
18 right bundle branch block 9.9 CACNA1C SCN5A
19 heart conduction disease 9.9 KCNE1 KCNH2 KCNQ1 SCN5A
20 timothy syndrome 9.9 CACNA1C KCNE1 KCNH2 KCNQ1
21 sick sinus syndrome 9.8 CACNA1C SCN5A
22 salivary gland disease 9.8 CDK9 PNCK
23 dilated cardiomyopathy 9.8 CACNA1C KCNH2 KCNQ1 SCN5A
24 long qt syndrome 12 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 long qt syndrome 3 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 long qt syndrome 5 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 andersen cardiodysrhythmic periodic paralysis 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 hypertrophic cardiomyopathy 9.8 CACNA1C CAV3 SCN5A
29 atrioventricular block 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 intrinsic cardiomyopathy 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 sudden infant death syndrome 9.7 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
32 long qt syndrome 13 9.7 KCNH2 KCNQ1 NOTCH1 SCN5A
33 atrial fibrillation 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
34 long qt syndrome 2 9.6 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
35 ventricular fibrillation, paroxysmal familial, 1 9.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
36 long qt syndrome 6 9.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
37 cardiac arrhythmia 9.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
38 familial atrial fibrillation 9.6 KCNE1 KCNE2 KCNH2 KCNQ1 KCNQ1-AS1 SCN4B
39 heart disease 9.4 CACNA1C KCNE2 KCNH2 KCNQ1 NOTCH1 SCN5A
40 brugada syndrome 9.3 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
Cardiovascular Heart:
sudden cardiac death
syncope
prolonged qt interval seen on ekg
torsades de pointes

Head And Neck Ears:
congenital sensorineural hearing loss


Clinical features from OMIM:

220400

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

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

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 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.87 CDK9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 CDK9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.87 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NOTCH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.87 SCN5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.87 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.87 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 NOTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.87 CDK9
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.87 CDK9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.87 NOTCH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.87 KCNE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 CDK9 KCNE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.87 CDK9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.87 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.87 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.87 NOTCH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 CDK9 KCNE1 NOTCH1 SCN5A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.87 KCNE1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.87 SCN5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 CDK9
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 KCNE1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.87 SCN5A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.87 SCN5A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.87 KCNE1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.87 NOTCH1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 KCNE1 NOTCH1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.87 KCNE1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.87 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 CACNA1C CAV3 KCNH2 KCNQ1 NOTCH1 SCN5A

Drugs & Therapeutics for Jervell and Lange-Nielsen Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Qatar Cardiovascular Biorepository of AF Patients Not yet recruiting NCT03660696

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, Salivary Gland

Publications for Jervell and Lange-Nielsen Syndrome 1

Articles related to Jervell and Lange-Nielsen Syndrome 1:

(show top 50) (show all 80)
# Title Authors Year
1
Novel frameshift mutation in the<i>KCNQ1</i>gene responsible for Jervell and Lange-Nielsen syndrome. ( 29372044 )
2018
2
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives. ( 30099333 )
2018
3
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. ( 30461122 )
2018
4
Cochlear implant function in a patient with Jervell and Lange-Nielsen syndrome after defibrillation by countershock. ( 29588140 )
2018
5
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene. ( 29677589 )
2018
6
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. ( 29951145 )
2018
7
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. ( 28364778 )
2017
8
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
9
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports". ( 29037160 )
2017
10
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
11
Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy. ( 27330206 )
2016
12
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome. ( 27917693 )
2016
13
Difficult management of Jervell and Lange-Nielsen syndrome: An endless searchEditorial Commentary. ( 27520542 )
2016
14
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
15
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. ( 27286732 )
2016
16
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature. ( 26205899 )
2015
17
Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome. ( 26153335 )
2015
18
A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations. ( 26702227 )
2015
19
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. ( 24372464 )
2015
20
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
21
Human iPS cell models of Jervell and Lange-Nielsen syndrome. ( 26481773 )
2015
22
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
23
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. ( 25471708 )
2015
24
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. ( 25187895 )
2014
25
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome. ( 25459999 )
2014
26
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome. ( 24125535 )
2014
27
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene. ( 26022593 )
2014
28
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. ( 25453094 )
2014
29
Turkish perspective of Jervell and Lange-Nielsen syndrome. ( 23661983 )
2013
30
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. ( 22805636 )
2013
31
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
32
Type 2 short QT syndrome and vestibular dysfunction: Mirror of the Jervell and Lange-Nielsen syndrome? ( 24380499 )
2013
33
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family. ( 23400408 )
2013
34
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. ( 22539601 )
2012
35
Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale. ( 22333885 )
2012
36
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. ( 22629021 )
2012
37
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? ( 21118729 )
2011
38
[Myocardial infarction without coronary arteries stenoses in a patient with Jervell and Lange-Nielsen syndrome--diagnostic dilemmas]. ( 21850631 )
2011
39
Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. ( 21380488 )
2011
40
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. ( 20890437 )
2010
41
Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome. ( 19430811 )
2009
42
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. ( 19027783 )
2008
43
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. ( 18595190 )
2008
44
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. ( 18441444 )
2008
45
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature. ( 18805595 )
2008
46
[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome]. ( 17646758 )
2007
47
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. ( 16987820 )
2006
48
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. ( 16911578 )
2006
49
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. ( 16461811 )
2006
50
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. ( 16987380 )
2006

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 377)
# 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 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
11 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh38 Chromosome 21, 34449409: 34449409
12 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
13 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant Conflicting interpretations of pathogenicity, other, risk factor rs1805128 GRCh38 Chromosome 21, 34449382: 34449382
14 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh37 Chromosome 11, 2790163: 2790163
15 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh38 Chromosome 11, 2768933: 2768933
16 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh37 Chromosome 11, 2869129: 2869129
17 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh38 Chromosome 11, 2847899: 2847899
18 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh37 Chromosome 11, 2869144: 2869144
19 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh38 Chromosome 11, 2847914: 2847914
20 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh37 Chromosome 11, 2608893: 2608893
21 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh38 Chromosome 11, 2587663: 2587663
22 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh37 Chromosome 11, 2683177: 2683177
23 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh38 Chromosome 11, 2661947: 2661947
24 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh37 Chromosome 11, 2683252: 2683252
25 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh38 Chromosome 11, 2662022: 2662022
26 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh37 Chromosome 11, 2797237: 2797237
27 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh38 Chromosome 11, 2776007: 2776007
28 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
29 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
30 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh37 Chromosome 11, 2591848: 2591848
31 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh38 Chromosome 11, 2570618: 2570618
32 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh37 Chromosome 11, 2591850: 2591850
33 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh38 Chromosome 11, 2570620: 2570620
34 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh37 Chromosome 11, 2593279: 2593279
35 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh38 Chromosome 11, 2572049: 2572049
36 KCNQ1 NM_000218.2(KCNQ1): c.1149dupT (p.Ala384Cysfs) duplication not provided rs397508079 GRCh37 Chromosome 11, 2608820: 2608820
37 KCNQ1 NM_000218.2(KCNQ1): c.1149dupT (p.Ala384Cysfs) duplication not provided rs397508079 GRCh38 Chromosome 11, 2587590: 2587590
38 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh37 Chromosome 11, 2608860: 2608860
39 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh38 Chromosome 11, 2587630: 2587630
40 KCNQ1 NM_000218.2(KCNQ1): c.1189delC (p.Arg397Glyfs) deletion not provided rs397508081 GRCh37 Chromosome 11, 2608860: 2608860
41 KCNQ1 NM_000218.2(KCNQ1): c.1189delC (p.Arg397Glyfs) deletion not provided rs397508081 GRCh38 Chromosome 11, 2587630: 2587630
42 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
43 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
44 KCNQ1 NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) indel Pathogenic rs397515637 GRCh37 Chromosome 11, 2797229: 2797234
45 KCNQ1 NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) indel Pathogenic rs397515637 GRCh38 Chromosome 11, 2775999: 2776004
46 KCNQ1 NM_000218.2(KCNQ1): c.1686-1G> A single nucleotide variant not provided rs397508098 GRCh37 Chromosome 11, 2798215: 2798215
47 KCNQ1 NM_000218.2(KCNQ1): c.1686-1G> A single nucleotide variant not provided rs397508098 GRCh38 Chromosome 11, 2776985: 2776985
48 KCNQ1 NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs) deletion Pathogenic rs397508103 GRCh37 Chromosome 11, 2869094: 2869113
49 KCNQ1 NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs) deletion Pathogenic rs397508103 GRCh38 Chromosome 11, 2847864: 2847883
50 KCNQ1 NM_000218.2(KCNQ1): c.451_452delCT (p.Leu151Glyfs) deletion Pathogenic rs397508110 GRCh37 Chromosome 11, 2549222: 2549223

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
12.49 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
2
Show member pathways
12.44 CACNA1C KCNE1 KCNQ1 SCN4B SCN5A
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 11.14 KCNH2 NOTCH1
7 10.92 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
8 10.91 SCN4B SCN5A
9 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 9.63 CAV3 KCNE1 KCNQ1
2 sarcolemma GO:0042383 9.5 CACNA1C CAV3 SCN5A
3 T-tubule GO:0030315 9.48 CAV3 SCN5A
4 Z disc GO:0030018 9.46 CACNA1C CAV3 KCNE1 SCN5A
5 intercalated disc GO:0014704 9.43 CAV3 SCN4B SCN5A
6 cell surface GO:0009986 9.43 CAV3 KCNE1 KCNE2 KCNH2 NOTCH1 SCN5A
7 voltage-gated sodium channel complex GO:0001518 9.37 SCN4B SCN5A
8 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1
9 integral component of membrane GO:0016021 10.09 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
10 plasma membrane GO:0005886 10.06 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 9.96 CACNA1C KCNH2 KCNQ1 SCN5A
2 potassium ion transport GO:0006813 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
4 regulation of ion transmembrane transport GO:0034765 9.87 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
5 cardiac muscle contraction GO:0060048 9.8 KCNH2 KCNQ1 SCN4B SCN5A
6 cellular response to drug GO:0035690 9.79 KCNE2 KCNH2 KCNQ1
7 potassium ion export across plasma membrane GO:0097623 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
8 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
9 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE1 KCNE2 KCNH2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNE1 KCNH2 KCNQ1
11 potassium ion export GO:0071435 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 CACNA1C SCN4B SCN5A
13 regulation of membrane repolarization GO:0060306 9.71 KCNE2 KCNH2 KCNQ1
14 membrane repolarization GO:0086009 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNE1 KCNH2 KCNQ1
16 regulation of heart contraction GO:0008016 9.67 CAV3 KCNQ1
17 regulation of heart rate GO:0002027 9.67 CAV3 SCN5A
18 membrane repolarization during action potential GO:0086011 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
19 regulation of sodium ion transmembrane transporter activity GO:2000649 9.66 CAV3 SCN4B
20 negative regulation of cardiac muscle hypertrophy GO:0010614 9.65 CAV3 NOTCH1
21 membrane depolarization during action potential GO:0086010 9.65 KCNH2 SCN5A
22 positive regulation of sodium ion transport GO:0010765 9.65 SCN4B SCN5A
23 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 CACNA1C KCNE1 KCNE2 SCN4B SCN5A
24 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.64 KCNE1 KCNE2
25 negative regulation of potassium ion transmembrane transport GO:1901380 9.64 CAV3 KCNH2
26 atrial cardiac muscle cell action potential GO:0086014 9.63 KCNQ1 SCN5A
27 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.63 CAV3 SCN5A
28 ventricular cardiac muscle cell action potential GO:0086005 9.63 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 regulation of delayed rectifier potassium channel activity GO:1902259 9.62 KCNE1 KCNE2
30 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNQ1 SCN5A
31 membrane depolarization during AV node cell action potential GO:0086045 9.61 CACNA1C SCN5A
32 AV node cell action potential GO:0086016 9.6 SCN4B SCN5A
33 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.59 CACNA1C SCN5A
34 regulation of heart rate by cardiac conduction GO:0086091 9.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
35 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.17 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
36 ion transport GO:0006811 10.05 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 ion channel activity GO:0005216 9.71 CACNA1C KCNH2 SCN5A
3 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
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 potassium channel regulator activity GO:0015459 9.57 KCNE1 KCNE2
7 sodium channel regulator activity GO:0017080 9.56 CAV3 SCN4B
8 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
9 sodium channel activity GO:0005272 9.55 SCN4B SCN5A
10 inward rectifier potassium channel activity GO:0005242 9.52 KCNE2 KCNH2
11 voltage-gated sodium channel activity GO:0005248 9.51 SCN4B SCN5A
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 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
16 ion channel binding GO:0044325 9.43 CAV3 KCNE1 KCNE2 KCNQ1 SCN4B SCN5A
17 voltage-gated ion channel activity GO:0005244 9.1 CACNA1C KCNE2 KCNH2 KCNQ1 SCN4B SCN5A

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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