MCID: JRV003
MIFTS: 54

Jervell and Lange-Nielsen Syndrome

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

Aliases & Classifications for Jervell and Lange-Nielsen Syndrome

MalaCards integrated aliases for Jervell and Lange-Nielsen Syndrome:

Name: Jervell and Lange-Nielsen Syndrome 54 23 24 25 56 29 13
Jervell-Lange Nielsen Syndrome 12 25 42 14 69
Cardioauditory Syndrome of Jervell and Lange-Nielsen 50 24 25 71
Surdo-Cardiac Syndrome 50 24 25 71
Jlns 23 24 25
Prolonged Qt Interval in Ekg and Sudden Death 50 71
Jervell and Lange-Nielsen Syndrome 1 71 29
Jlns1 50 71
Deafness, Congenital, and Functional Heart Disease 50
Congenital Deafness and Functional Heart Disease 71
Qt Interval, Long, Autosomal Recessive 24
Long Qt Syndrome, Autosomal Recessive 24
Jervell and Lange-Nielson Syndrome 12
Long Qt Interval-Deafness Syndrome 56
Cardio-Auditory-Syncope Syndrome 25
Jervell Lange-Nielsen Syndrome 50
Long Qt Interval-Deafness 71
Surdo Cardiac Syndrome 24

Characteristics:

Orphanet epidemiological data:

56
jervell and lange-nielsen syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Miscellaneous:
genetic heterogeneity

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 220400
Disease Ontology 12 DOID:2842
MeSH 42 D029593
NCIt 47 C84793
SNOMED-CT 64 373905003 49518001
Orphanet 56 ORPHA90647
MESH via Orphanet 43 D029593
UMLS via Orphanet 70 C0022387
ICD10 via Orphanet 34 I45.8
UMLS 69 C0022387

Summaries for Jervell and Lange-Nielsen Syndrome

NIH Rare Diseases : 50 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. last updated: 6/17/2016

MalaCards based summary : Jervell and Lange-Nielsen Syndrome, also known as jervell-lange nielsen syndrome, is related to jervell and lange-nielsen syndrome 2 and sinoatrial node dysfunction and deafness, and has symptoms including syncope, sudden cardiac death and torsade de pointes. An important gene associated with Jervell and Lange-Nielsen Syndrome is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Ibutilide and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

GeneReviews: NBK1405

Related Diseases for Jervell and Lange-Nielsen Syndrome

Diseases in the Jervell and Lange-Nielsen Syndrome family:

Jervell and Lange-Nielsen Syndrome 2

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 jervell and lange-nielsen syndrome 2 12.7
2 sinoatrial node dysfunction and deafness 11.3
3 long qt syndrome 10.6
4 acute poisoning by drugs with membrane-stabilizing effect 10.4 KCNH2 KCNQ1
5 long qt syndrome 1 10.2
6 short qt syndrome 10.2
7 endocardium disease 10.2 KCNE2 SCN5A
8 lipodystrophy, familial partial, type 5 10.1 CAV3 SCN5A
9 cardiac conduction disease with or without dilated cardiomyopathy 10.0 KCNH2 KCNQ1 SCN5A
10 ventricular tachycardia, catecholaminergic polymorphic, 1 10.0 KCNH2 KCNQ1 SCN5A
11 uterine fibroid 9.8 CACNA1C SCN5A
12 syne1-related emery-dreifuss muscular dystrophy 9.8 KCNE1 KCNH2 KCNQ1 SCN5A
13 prostate malignant phyllodes tumor 9.8 KCNE1 KCNH2 KCNQ1 SCN5A
14 microvillus inclusion disease 9.8 KCNE2 SCN5A
15 brugada syndrome 3 9.7 CACNA1C KCNE1 KCNH2 KCNQ1
16 vascular erectile tumor 9.7 CAV3 KCNH2 KCNQ1 SCN5A
17 mental retardation, autosomal dominant 11 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 brugada syndrome 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 sick sinus syndrome 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 zttk syndrome 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21 short qt syndrome 1 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 second-degree atrioventricular block 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 autoimmune disease of skin and connective tissue 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 pigment dispersion syndrome 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 hyperaldosteronism, familial, type iii 9.3 KCNH2 KCNQ1 NOTCH1 SCN5A
26 atrial fibrillation, familial, 10 9.3 CAV3 KCNH2 KCNQ1 SCN4B SCN5A
27 vitelliform macular dystrophy 9.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
28 acrofrontofacionasal dysostosis 9.1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B SCN5A
29 intellectual disability-cataracts-kyphosis syndrome 9.0 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 keppen-lubinsky syndrome 9.0 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 xanthogranulomatous pyelonephritis 9.0 KCNH2 KCNQ1 NOTCH1 SCN5A
32 cone dystrophy 9.0 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 hairy cell leukemia 8.2 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
34 hyperphosphatemia 8.2 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
35 atrial fibrillation, familial, 3 6.2 CACNA1C CAV3 CDK9 KCNE1 KCNE2 KCNH2

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



Diseases related to Jervell and Lange-Nielsen Syndrome

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Ears:
congenital sensorineural hearing loss


Clinical features from OMIM:

220400

Human phenotypes related to Jervell and Lange-Nielsen Syndrome:

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

UMLS symptoms related to Jervell and Lange-Nielsen Syndrome:


syncope

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

26
id 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 SCN5A CDK9 KCNE1 NOTCH1
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:

44
id 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

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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Recruiting 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

Search NIH Clinical Center for Jervell and Lange-Nielsen Syndrome

Cochrane evidence based reviews: jervell-lange nielsen syndrome

Genetic Tests for Jervell and Lange-Nielsen Syndrome

Genetic tests related to Jervell and Lange-Nielsen Syndrome:

id Genetic test Affiliating Genes
1 Jervell and Lange-Nielsen Syndrome 1 29
2 Jervell and Lange-Nielsen Syndrome 29 24 KCNQ1

Anatomical Context for Jervell and Lange-Nielsen Syndrome

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

39
Heart

Publications for Jervell and Lange-Nielsen Syndrome

Articles related to Jervell and Lange-Nielsen Syndrome:

(show top 50) (show all 51)
id Title Authors Year
1
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. ( 28364778 )
2017
2
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
3
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. ( 27286732 )
2016
4
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome. ( 27917693 )
2016
5
Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy. ( 27330206 )
2016
6
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
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
Human iPS cell models of Jervell and Lange-Nielsen syndrome. ( 26481773 )
2015
10
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. ( 25705178 )
2015
11
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. ( 25471708 )
2015
12
Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome. ( 26153335 )
2015
13
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. ( 24372464 )
2015
14
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
15
A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations. ( 26702227 )
2015
16
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature. ( 26205899 )
2015
17
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. ( 25187895 )
2014
18
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. ( 25453094 )
2014
19
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome. ( 25459999 )
2014
20
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene. ( 26022593 )
2014
21
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome. ( 24125535 )
2014
22
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. ( 22805636 )
2013
23
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
24
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family. ( 23400408 )
2013
25
Turkish perspective of Jervell and Lange-Nielsen syndrome. ( 23661983 )
2013
26
Type 2 short QT syndrome and vestibular dysfunction: Mirror of the Jervell and Lange-Nielsen syndrome? ( 24380499 )
2013
27
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. ( 22629021 )
2012
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
Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction? ( 21118729 )
2011
31
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. ( 20890437 )
2010
32
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. ( 18441444 )
2008
33
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. ( 19027783 )
2008
34
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. ( 18595190 )
2008
35
[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome]. ( 17646758 )
2007
36
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. ( 16461811 )
2006
37
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. ( 16987820 )
2006
38
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. ( 16911578 )
2006
39
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome]. ( 15924777 )
2005
40
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). ( 14510661 )
2003
41
Cochlear implantation in Jervell and Lange-Nielsen syndrome. ( 12443809 )
2002
42
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. ( 12051962 )
2002
43
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. ( 11226272 )
2001
44
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. ( 10077519 )
1999
45
Jervell and Lange-Nielsen syndrome: a Norwegian perspective. ( 10704188 )
1999
46
Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation. ( 10593671 )
1999
47
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
48
KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. ( 9354783 )
1997
49
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. ( 9328483 )
1997
50
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange- Nielsen syndrome. ( 8899564 )
1996

Variations for Jervell and Lange-Nielsen Syndrome

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

71
id 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:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.914G> C (p.Trp305Ser) single nucleotide variant Pathogenic rs120074186 GRCh37 Chromosome 11, 2594209: 2594209
2 KCNQ1 NM_000218.2(KCNQ1): c.1760C> T (p.Thr587Met) single nucleotide variant Pathogenic rs120074189 GRCh37 Chromosome 11, 2799233: 2799233
3 KCNQ1 KCNQ1, IVS1 undetermined variant Pathogenic
4 KCNQ1 NM_000218.2(KCNQ1): c.1766G> A (p.Gly589Asp) single nucleotide variant Pathogenic rs120074190 GRCh37 Chromosome 11, 2799239: 2799239
5 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
6 KCNE1 NM_000219.5(KCNE1): c.253G> A (p.Asp85Asn) single nucleotide variant risk factor rs1805128 GRCh37 Chromosome 21, 35821680: 35821680
7 KCNQ1 NM_000218.2(KCNQ1): c.1008delC (p.Ile337Serfs) deletion Pathogenic rs397508067 GRCh37 Chromosome 11, 2604751: 2604751
8 KCNQ1 NM_000218.2(KCNQ1): c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) indel Pathogenic rs397515637 GRCh37 Chromosome 11, 2797229: 2797234
9 KCNQ1 NM_000218.2(KCNQ1): c.1892_1911del20 (p.Pro631Hisfs) deletion Pathogenic rs397508103 GRCh37 Chromosome 11, 2869094: 2869113
10 KCNQ1 NM_000218.2(KCNQ1): c.451_452delCT (p.Leu151Glyfs) deletion Pathogenic rs397508110 GRCh37 Chromosome 11, 2549222: 2549223
11 KCNQ1 NM_000218.2(KCNQ1): c.488delT (p.Leu163Argfs) deletion Pathogenic/Likely pathogenic rs397508112 GRCh37 Chromosome 11, 2591868: 2591868
12 KCNQ1 NM_000218.2(KCNQ1): c.567dupG (p.Arg190Alafs) duplication Pathogenic rs397508117 GRCh37 Chromosome 11, 2591947: 2591947
13 KCNQ1 NM_000218.2(KCNQ1): c.573_577delGCGCT (p.Arg192Cysfs) deletion Pathogenic rs397508118 GRCh37 Chromosome 11, 2591953: 2591957
14 KCNQ1 NM_000218.2(KCNQ1): c.585delG (p.Lys196Serfs) deletion Pathogenic/Likely pathogenic rs397508120 GRCh37 Chromosome 11, 2591965: 2591965
15 KCNQ1 NM_000218.2(KCNQ1): c.604G> A (p.Asp202Asn) single nucleotide variant Pathogenic rs199472702 GRCh37 Chromosome 11, 2591984: 2591984
16 KCNQ1 NM_000218.2(KCNQ1): c.828_830delCTC (p.Ser277del) deletion Pathogenic rs397508127 GRCh37 Chromosome 11, 2594123: 2594125
17 KCNQ1 NM_000218.2(KCNQ1): c.921G> A (p.Val307=) single nucleotide variant Likely pathogenic rs397508131 GRCh37 Chromosome 11, 2594216: 2594216
18 KCNQ1 NM_000218.2(KCNQ1): c.998_999delCT (p.Ser333Cysfs) deletion Pathogenic rs397508134 GRCh37 Chromosome 11, 2604741: 2604742
19 KCNQ1 NM_000218.2(KCNQ1): c.826delT (p.Ser276Profs) deletion Likely pathogenic rs786204778 GRCh37 Chromosome 11, 2594121: 2594121

Expression for Jervell and Lange-Nielsen Syndrome

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

Pathways for Jervell and Lange-Nielsen Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 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 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

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.8 CAV3 KCNQ1 NOTCH1 SCN5A
2 membrane raft GO:0045121 9.63 CAV3 KCNE1 KCNQ1
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 9.32 SCN4B SCN5A
8 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1
9 membrane GO:0016020 10.13 CACNA1C CAV3 CDK9 KCNE1 KCNE2 KCNH2
10 integral component of membrane GO:0016021 10.06 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1
11 plasma membrane GO:0005886 10.02 CACNA1C CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

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

(show all 38)
id 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 transmembrane transport GO:0071805 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
4 potassium ion transport GO:0006813 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
5 cellular response to drug GO:0035690 9.8 KCNE2 KCNH2 KCNQ1
6 cardiac muscle contraction GO:0060048 9.8 KCNH2 KCNQ1 SCN4B SCN5A
7 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
8 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE1 KCNE2 KCNH2
9 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNE1 KCNH2 KCNQ1
10 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
11 cardiac conduction GO:0061337 9.73 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 CACNA1C SCN4B SCN5A
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 CACNA1C KCNE1 KCNE2 SCN4B SCN5A
14 regulation of membrane repolarization GO:0060306 9.71 KCNE2 KCNH2 KCNQ1
15 membrane repolarization during action potential GO:0086011 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.7 KCNE1 KCNH2 KCNQ1
17 regulation of heart rate by cardiac conduction GO:0086091 9.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
18 regulation of postsynaptic membrane potential GO:0060078 9.68 SCN4B SCN5A
19 regulation of heart contraction GO:0008016 9.67 CAV3 KCNQ1
20 regulation of heart rate GO:0002027 9.67 CAV3 SCN5A
21 membrane depolarization during action potential GO:0086010 9.66 KCNH2 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 membrane repolarization GO:0086009 9.65 KCNE1 KCNE2 KCNQ1
27 negative regulation of potassium ion transmembrane transport GO:1901380 9.64 CAV3 KCNH2
28 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.64 CAV3 SCN5A
29 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
30 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.62 KCNQ1 SCN5A
31 membrane depolarization during AV node cell action potential GO:0086045 9.61 CACNA1C SCN5A
32 potassium ion export across plasma membrane GO:0097623 9.61 KCNH2 KCNQ1
33 AV node cell action potential GO:0086016 9.6 SCN4B SCN5A
34 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.59 CACNA1C SCN5A
35 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
36 ventricular cardiac muscle cell action potential GO:0086005 9.1 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
37 transport GO:0006810 10.18 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B
38 ion transport GO:0006811 10.05 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN4B

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

(show all 17)
id 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 ion channel binding GO:0044325 9.65 CAV3 KCNE2 KCNQ1 SCN4B SCN5A
6 scaffold protein binding GO:0097110 9.63 KCNH2 KCNQ1 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 9.48 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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