JLNS1
MCID: JRV004
MIFTS: 56

Jervell and Lange-Nielsen Syndrome 1 (JLNS1)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Muscle 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 72 29 6
Jervell and Lange-Nielsen Syndrome 57 73 25 20 43 58 36 29 13 6 39
Jervell-Lange Nielsen Syndrome 12 43 44 15 70
Cardioauditory Syndrome of Jervell and Lange-Nielsen 57 20 43 72
Prolonged Qt Interval in Ekg and Sudden Death 57 20 43 72
Surdo-Cardiac Syndrome 57 20 43 72
Deafness, Congenital, and Functional Heart Disease 57 20 43
Jlns1 57 20 72
Long Qt Interval-Deafness Syndrome 20 58
Jlns 25 43
Congenital Deafness and Functional Heart Disease 72
Long Qt Interval-Hearing Loss Syndrome 58
Autosomal Recessive Long Qt Syndrome 43
Jervell and Lange-Nielson Syndrome 12
Cardio-Auditory-Syncope Syndrome 43
Jervell Lange-Nielsen Syndrome 20
Long Qt Interval-Deafness 72

Characteristics:

Orphanet epidemiological data:

58
jervell and lange-nielsen syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
jervell and lange-nielsen syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:2842
OMIM® 57 220400
OMIM Phenotypic Series 57 PS220400
KEGG 36 H02091
MeSH 44 D029593
NCIt 50 C84793
SNOMED-CT 67 49518001
MESH via Orphanet 45 D029593
ICD10 via Orphanet 33 I45.8
UMLS via Orphanet 71 C0022387
Orphanet 58 ORPHA90647
UMLS 70 C0022387

Summaries for Jervell and Lange-Nielsen Syndrome 1

GARD : 20 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 conduction defect and cardiac arrest, 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. The drugs Progesterone and Ibutilide have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are bilateral sensorineural hearing impairment and prolonged qtc interval

MedlinePlus Genetics : 43 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) (Updated 20-May-2021)

KEGG : 36 Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. Recently, mutations in KCNE1 also have been found to cause JLNS.

UniProtKB/Swiss-Prot : 72 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 : 73 Jervell and Lange-Nielsen syndrome (JLNS) is a rare 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 top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 31.5 SCN5A KCNQ1 CACNA1C
2 cardiac arrest 31.0 SCN5A KCNQ1 KCNH2 CASQ2 ANK2
3 syncope 30.9 SCN5A KCNQ1 KCNH2
4 cardiac arrhythmia 30.5 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE2
5 ventricular fibrillation, paroxysmal familial, 1 30.4 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
6 heart disease 30.2 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
7 sudden infant death syndrome 30.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.0 SCN5A KCNQ1 KCNJ2 KCNH2 CASQ2 ANK2
9 familial long qt syndrome 29.6 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
10 short qt syndrome 29.5 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2 KCNH2
11 long qt syndrome 5 29.3 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
12 long qt syndrome 3 29.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
13 long qt syndrome 2 29.1 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
14 catecholaminergic polymorphic ventricular tachycardia 28.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
15 long qt syndrome 28.7 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
16 long qt syndrome 1 28.4 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
17 jervell and lange-nielsen syndrome 2 11.7
18 sinoatrial node dysfunction and deafness 11.4
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
20 branchiootic syndrome 1 10.6
21 autosomal recessive disease 10.5
22 iron metabolism disease 10.5
23 sensorineural hearing loss 10.5
24 myocardial infarction 10.5
25 deficiency anemia 10.5
26 iron deficiency anemia 10.5
27 epilepsy 10.3
28 atrial fibrillation, familial, 3 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
29 short qt syndrome 2 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
30 pallister w syndrome 10.3
31 ischemia 10.3
32 myopathy 10.3
33 pathologic nystagmus 10.3
34 hypoglycemia 10.3
35 nonsyndromic deafness 10.3
36 paroxysmal ventricular fibrillation 10.3
37 cardiogenic shock 10.3
38 precursor t-cell acute lymphoblastic leukemia 10.3
39 brugada syndrome 6 10.3 SCN5A KCNE3
40 periodic paralyses 10.3 KCNJ2 KCNE3
41 familial short qt syndrome 10.3 KCNQ1 KCNJ2 KCNH2
42 developmental and epileptic encephalopathy 14 10.3 SCN5A KCNQ1 KCNH2
43 mutism 10.3
44 first-degree atrioventricular block 10.3 SCN5A KCNJ2 KCNH2
45 third-degree atrioventricular block 10.3 SCN5A KCNJ2 KCNH2
46 long qt syndrome 15 10.2 KCNJ2 KCNE1 CACNA1C
47 idiopathic ventricular fibrillation, non brugada type 10.2 SCN5A CACNA1C
48 hyperkalemic periodic paralysis 10.2 SCN5A KCNJ2 KCNE3
49 noonan syndrome with multiple lentigines 10.2 SCN5A KCNQ1 KCNH2
50 paramyotonia congenita of von eulenburg 10.2 SCN5A KCNJ2 KCNE3

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

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

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bilateral sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008619
2 prolonged qtc interval 58 31 hallmark (90%) Very frequent (99-80%) HP:0005184
3 profound sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0011476
4 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
5 loss of consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007185
6 torsade de pointes 58 31 frequent (33%) Frequent (79-30%) HP:0001664
7 postexertional malaise 58 31 frequent (33%) Frequent (79-30%) HP:0030973
8 iron deficiency anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001891
9 ventricular fibrillation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001663
10 seizure 31 occasional (7.5%) HP:0001250
11 seizures 58 Occasional (29-5%)
12 sudden cardiac death 31 HP:0001645
13 prolonged qt interval 31 HP:0001657
14 arrhythmia 58 Frequent (79-30%)
15 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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


syncope

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 CACNA1C CASQ2 CAV3 KCNH2 KCNJ2 KCNQ1

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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
2
Ibutilide Approved Phase 2 122647-31-8, 122647-32-9 60753
3 Anti-Arrhythmia Agents Phase 2
4 Hormones Phase 2
5 Hormone Antagonists Phase 2
6 Progestins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Progesterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes Completed NCT01929083 Phase 2 Progesterone;Placebo;Ibutilide

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:

40
Heart

Publications for Jervell and Lange-Nielsen Syndrome 1

Articles related to Jervell and Lange-Nielsen Syndrome 1:

(show top 50) (show all 226)
# Title Authors PMID Year
1
Molecular basis of the long-QT syndrome associated with deafness. 25 6 57
9164812 1997
2
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. 57 6 61
10077519 1999
3
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 61 6 25
22539601 2012
4
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 61 25 6
11216980 2001
5
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 61 25 57
11140949 2000
6
Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 61 25 6
10704188 1999
7
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 61 6 25
9354783 1997
8
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. 25 61 6
9328483 1997
9
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. 6 57
9020846 1997
10
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 6 61
29372044 2018
11
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. 61 6
28595573 2017
12
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 6 61
11530100 2001
13
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. 61 57
10654932 2000
14
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 61 6
10024302 1999
15
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 6
26187847 2015
16
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 6
24666684 2015
17
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. 61 25
25471708 2015
18
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. 25 61
24372464 2015
19
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 61 25
25187895 2014
20
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 6
24561134 2014
21
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 6
24606995 2014
22
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 61 25
24552659 2014
23
Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 6
24400172 2013
24
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 6
23631430 2013
25
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. 25 61
22805636 2013
26
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 25 61
22629021 2012
27
Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. 25 61
21380488 2011
28
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. 25 61
20890437 2010
29
Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome. 25 61
19430811 2009
30
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 6
19716085 2009
31
Intracellular domains interactions and gated motions of I(KS) potassium channel subunits. 6
19521339 2009
32
Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 6
19340287 2009
33
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels. 6
19008479 2008
34
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature. 61 25
18805595 2008
35
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. 25 61
19027783 2008
36
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 61 25
18441444 2008
37
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. 61 25
18400097 2008
38
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. 25 61
18595190 2008
39
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 61 25
18752142 2008
40
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. 25 61
16987380 2006
41
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. 61 25
16911578 2006
42
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. 25 61
16987820 2006
43
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 6
16818210 2006
44
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. 61 25
16461811 2006
45
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 6
15840476 2005
46
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 6
15466642 2004
47
Compound mutations: a common cause of severe long-QT syndrome. 57
15051636 2004
48
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 61 25
14510661 2003
49
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 6
12566567 2003
50
Cochlear implantation in Jervell and Lange-Nielsen syndrome. 61 25
12443809 2002

Variations for Jervell and Lange-Nielsen Syndrome 1

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

6 (show top 50) (show all 286)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ1 NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) Duplication Pathogenic 53069 rs397508117 GRCh37: 11:2591942-2591943
GRCh38: 11:2570712-2570713
2 KCNQ1 NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) SNV Pathogenic 3127 rs120074186 GRCh37: 11:2594209-2594209
GRCh38: 11:2572979-2572979
3 KCNQ1 NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) Deletion Pathogenic 53045 rs397508110 GRCh37: 11:2549222-2549223
GRCh38: 11:2527992-2527993
4 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) Deletion Pathogenic 53025 rs397508103 GRCh37: 11:2869093-2869112
GRCh38: 11:2847863-2847882
5 KCNQ1 NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) SNV Pathogenic 3138 rs120074189 GRCh37: 11:2799233-2799233
GRCh38: 11:2778003-2778003
6 KCNQ1 KCNQ1, IVS1 Variation Pathogenic 3139 GRCh37:
GRCh38:
7 KCNE1 NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro) Indel Pathogenic 13475 rs281865421 GRCh37: 21:35821756-35821761
GRCh38: 21:34449458-34449463
8 KCNE1 NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) SNV Pathogenic 13476 rs28933384 GRCh37: 21:35821913-35821913
GRCh38: 21:34449615-34449615
9 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
10 KCNQ1 NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) Deletion Pathogenic 438610 rs1554893092 GRCh37: 11:2593291-2593292
GRCh38: 11:2572061-2572062
11 KCNQ1 NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) SNV Pathogenic 375455 rs1554958045 GRCh37: 11:2466443-2466443
GRCh38: 11:2445213-2445213
12 KCNE1 NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) SNV Pathogenic 547162 rs758346045 GRCh37: 21:35821795-35821795
GRCh38: 21:34449497-34449497
13 KCNE1 NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) SNV Pathogenic 547163 rs779124360 GRCh37: 21:35821883-35821883
GRCh38: 21:34449585-34449585
14 KCNE1 NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) SNV Pathogenic 547164 rs1244688796 GRCh37: 21:35821882-35821882
GRCh38: 21:34449584-34449584
15 KCNQ1OT1 , KCNQ1 NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) Deletion Pathogenic 496690 rs1554903804 GRCh37: 11:2683221-2683224
GRCh38: 11:2661991-2661994
16 KCNQ1 NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) Deletion Pathogenic 430941 rs1554919471 GRCh37: 11:2790091-2790091
GRCh38: 11:2768861-2768861
17 KCNQ1 NM_000218.3(KCNQ1):c.1732+5del Deletion Pathogenic 517664 rs1554920833 GRCh37: 11:2798265-2798265
GRCh38: 11:2777035-2777035
18 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) SNV Pathogenic 3140 rs120074190 GRCh37: 11:2799239-2799239
GRCh38: 11:2778009-2778009
19 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 GRCh37: 11:2591950-2591954
GRCh38: 11:2570720-2570724
20 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 GRCh37: 11:2591950-2591954
GRCh38: 11:2570720-2570724
21 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 GRCh37: 11:2593251-2593251
GRCh38: 11:2572021-2572021
22 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) SNV Pathogenic 3144 rs120074193 GRCh37: 11:2594100-2594100
GRCh38: 11:2572870-2572870
23 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) SNV Pathogenic 52953 rs12720458 GRCh37: 11:2606494-2606494
GRCh38: 11:2585264-2585264
24 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 GRCh37: 11:2797214-2797214
GRCh38: 11:2775984-2775984
25 KCNQ1 NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) Indel Pathogenic 52999 rs397515637 GRCh37: 11:2797229-2797234
GRCh38: 11:2775999-2776004
26 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) SNV Pathogenic 52996 rs397508097 GRCh37: 11:2790147-2790147
GRCh38: 11:2768917-2768917
27 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 GRCh37: 11:2591950-2591954
GRCh38: 11:2570720-2570724
28 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) SNV Pathogenic 52946 rs397508072 GRCh37: 11:2606475-2606475
GRCh38: 11:2585245-2585245
29 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) SNV Pathogenic 3140 rs120074190 GRCh37: 11:2799239-2799239
GRCh38: 11:2778009-2778009
30 KCNQ1 NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) SNV Pathogenic 53018 rs199472815 GRCh37: 11:2799254-2799254
GRCh38: 11:2778024-2778024
31 KCNQ1 NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) SNV Likely pathogenic 53061 rs120074177 GRCh37: 11:2591912-2591912
GRCh38: 11:2570682-2570682
32 KCNQ1 NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) SNV Likely pathogenic 3142 rs17221854 GRCh37: 11:2799220-2799220
GRCh38: 11:2777990-2777990
33 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) Deletion Likely pathogenic 53050 rs397508112 GRCh37: 11:2591868-2591868
GRCh38: 11:2570638-2570638
34 KCNQ1 NM_000218.3(KCNQ1):c.1686-9T>C SNV Likely pathogenic 983505 GRCh37: 11:2798207-2798207
GRCh38: 11:2776977-2776977
35 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
36 KCNQ1 NM_181798.1(KCNQ1):c.22del (p.Val8fs) Deletion Likely pathogenic 200891 rs794728565 GRCh37: 11:2549173-2549173
GRCh38: 11:2527943-2527943
37 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
38 KCNQ1 NM_181798.1(KCNQ1):c.445del (p.Ser149fs) Deletion Likely pathogenic 189232 rs786204778 GRCh37: 11:2594121-2594121
GRCh38: 11:2572891-2572891
39 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Conflicting interpretations of pathogenicity 13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
40 KCNE1 NM_000219.6(KCNE1):c.-170C>T SNV Uncertain significance 898605 GRCh37: 21:35883407-35883407
GRCh38: 21:34511109-34511109
41 KCNE1 NM_000219.6(KCNE1):c.200G>A (p.Arg67His) SNV Uncertain significance 132661 rs79654911 GRCh37: 21:35821733-35821733
GRCh38: 21:34449435-34449435
42 KCNE1 NM_000219.6(KCNE1):c.*1556G>A SNV Uncertain significance 339745 rs886057019 GRCh37: 21:35819987-35819987
GRCh38: 21:34447689-34447689
43 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*837G>A SNV Uncertain significance 304261 rs139633955 GRCh37: 11:2870070-2870070
GRCh38: 11:2848840-2848840
44 KCNQ1 NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) SNV Uncertain significance 52970 rs199472776 GRCh37: 11:2608860-2608860
GRCh38: 11:2587630-2587630
45 KCNQ1 NM_000218.2(KCNQ1):c.-69G>A SNV Uncertain significance 304212 rs886048159 GRCh37: 11:2466260-2466260
GRCh38: 11:2445030-2445030
46 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*1025G>C SNV Uncertain significance 304270 rs181226788 GRCh37: 11:2870258-2870258
GRCh38: 11:2849028-2849028
47 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*392A>C SNV Uncertain significance 304245 rs868129989 GRCh37: 11:2869625-2869625
GRCh38: 11:2848395-2848395
48 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*633G>A SNV Uncertain significance 304254 rs886048173 GRCh37: 11:2869866-2869866
GRCh38: 11:2848636-2848636
49 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*712G>A SNV Uncertain significance 304256 rs745447199 GRCh37: 11:2869945-2869945
GRCh38: 11:2848715-2848715
50 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*904T>C SNV Uncertain significance 304267 rs186055804 GRCh37: 11:2870137-2870137
GRCh38: 11:2848907-2848907

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

72
# 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

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:

36
# 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
12.66 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
2
Show member pathways
12.33 SCN5A SCN4B KCNQ1 KCNE1 CACNA1C
3 12.22 KCNQ1 KCNJ2 KCNH2 KCNE4 KCNE3 KCNE2
4 12.01 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
5
Show member pathways
11.73 SCN5A SCN4B ANK2
6
Show member pathways
11.48 SCN5A SCN4B KCNQ1 KCNE5 KCNE4 KCNE3
7 11.18 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
8 11.06 SCN5A SCN4B ANK2
9 10.82 KCNQ1 KCNJ2 KCNE1

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 cell surface GO:0009986 9.89 SCN5A KCNH2 KCNE2 KCNE1 CAV3
3 membrane raft GO:0045121 9.77 KCNQ1 KCNE3 KCNE1 CAV3 ANK2
4 Z disc GO:0030018 9.73 SCN5A KCNE1 CAV3 CASQ2 CACNA1C ANK2
5 sarcolemma GO:0042383 9.72 SNTA1 SCN5A CAV3 CACNA1C ANK2
6 lateral plasma membrane GO:0016328 9.61 SNTA1 SCN5A KCNQ1
7 intercalated disc GO:0014704 9.55 SCN5A SCN4B KCNJ2 CAV3 ANK2
8 dystrophin-associated glycoprotein complex GO:0016010 9.48 SNTA1 CAV3
9 voltage-gated sodium channel complex GO:0001518 9.46 SCN5A SCN4B
10 T-tubule GO:0030315 9.35 SCN5A KCNJ2 CAV3 CACNA1C ANK2
11 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE4 KCNE3

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.26 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
2 potassium ion transport GO:0006813 10.11 KCNQ1 KCNJ2 KCNH2 KCNE4 KCNE3 KCNE2
3 potassium ion transmembrane transport GO:0071805 10.1 KCNQ1 KCNJ2 KCNH2 KCNE4 KCNE3 KCNE2
4 cardiac conduction GO:0061337 10.04 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 cardiac muscle contraction GO:0060048 10.02 SCN5A SCN4B KCNQ1 KCNH2 KCNE5 CASQ2
6 regulation of heart rate GO:0002027 9.97 SNTA1 SCN5A CAV3 CASQ2 ANK2
7 regulation of ion transmembrane transport GO:0034765 9.96 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE4
8 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.95 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
9 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.93 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.93 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
12 membrane repolarization during action potential GO:0086011 9.92 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE4 KCNE3
13 regulation of potassium ion transmembrane transport GO:1901379 9.91 KCNH2 KCNE5 KCNE2 KCNE1
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
15 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 CASQ2
16 potassium ion export across plasma membrane GO:0097623 9.91 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
17 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.9 SCN5A SCN4B KCNJ2 CACNA1C
18 ventricular cardiac muscle cell action potential GO:0086005 9.9 SNTA1 SCN5A KCNQ1 KCNH2 KCNE5 KCNE4
19 membrane repolarization GO:0086009 9.89 KCNQ1 KCNH2 KCNE2 KCNE1
20 atrial cardiac muscle cell action potential GO:0086014 9.88 SCN5A KCNQ1 KCNE5 ANK2
21 cellular response to drug GO:0035690 9.86 KCNQ1 KCNH2 KCNE2
22 potassium ion import across plasma membrane GO:1990573 9.83 KCNJ2 KCNH2 KCNE2
23 regulation of heart contraction GO:0008016 9.83 KCNQ1 KCNE5 CAV3
24 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.81 CASQ2 CACNA1C ANK2
25 regulation of cardiac muscle cell contraction GO:0086004 9.81 SCN5A KCNJ2 ANK2
26 negative regulation of potassium ion transmembrane transport GO:1901380 9.8 KCNH2 KCNE5 CAV3
27 negative regulation of voltage-gated potassium channel activity GO:1903817 9.8 KCNQ1 KCNE3 KCNE2
28 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.79 SCN5A KCNQ1 KCNE5
29 negative regulation of potassium ion export across plasma membrane GO:1903765 9.79 KCNH2 KCNE5 KCNE3
30 regulation of heart rate by cardiac conduction GO:0086091 9.73 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
31 regulation of cardiac muscle contraction GO:0055117 9.7 CAV3 ANK2
32 regulation of sodium ion transmembrane transporter activity GO:2000649 9.7 SCN4B CAV3
33 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.7 CASQ2 ANK2
34 membrane depolarization during action potential GO:0086010 9.7 SCN5A KCNH2
35 positive regulation of sodium ion transport GO:0010765 9.69 SCN5A SCN4B
36 T-tubule organization GO:0033292 9.69 CAV3 ANK2
37 regulation of sodium ion transmembrane transport GO:1902305 9.68 SNTA1 SCN5A
38 positive regulation of voltage-gated calcium channel activity GO:1901387 9.68 KCNE3 KCNE2
39 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.68 CAV3 CASQ2
40 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE2 KCNE1
41 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.67 SCN5A CAV3
42 membrane depolarization during SA node cell action potential GO:0086046 9.67 SCN5A ANK2
43 membrane depolarization during AV node cell action potential GO:0086045 9.67 SCN5A CACNA1C
44 SA node cell action potential GO:0086015 9.66 SCN5A ANK2
45 AV node cell action potential GO:0086016 9.65 SCN5A SCN4B
46 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.65 SCN5A CACNA1C
47 regulation of calcium ion transmembrane transporter activity GO:1901019 9.64 CAV3 ANK2
48 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.4 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE5

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.91 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
2 potassium channel activity GO:0005267 9.88 KCNQ1 KCNH2 KCNE4 KCNE3 KCNE2 KCNE1
3 calmodulin binding GO:0005516 9.85 SNTA1 SCN5A KCNQ1 CACNA1C
4 ion channel activity GO:0005216 9.83 SCN5A KCNQ1 KCNH2 CACNA1C
5 potassium channel regulator activity GO:0015459 9.83 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
7 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.72 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
8 scaffold protein binding GO:0097110 9.71 SCN5A KCNQ1 KCNH2
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.7 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
10 sodium channel regulator activity GO:0017080 9.67 SNTA1 SCN4B CAV3
11 inward rectifier potassium channel activity GO:0005242 9.65 KCNJ2 KCNH2 KCNE2
12 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE4
13 nitric-oxide synthase binding GO:0050998 9.63 SNTA1 SCN5A CAV3
14 voltage-gated sodium channel activity GO:0005248 9.56 SCN5A SCN4B
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.51 SCN5A SCN4B
16 ion channel binding GO:0044325 9.36 SNTA1 SCN5A SCN4B KCNQ1 KCNE5 KCNE4

Sources for Jervell and Lange-Nielsen Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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