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 73 29 6
Jervell and Lange-Nielsen Syndrome 57 74 25 20 43 58 36 29 13 6 39
Jervell-Lange Nielsen Syndrome 12 43 44 15 71
Cardioauditory Syndrome of Jervell and Lange-Nielsen 57 20 43 73
Prolonged Qt Interval in Ekg and Sudden Death 57 20 43 73
Surdo-Cardiac Syndrome 57 20 43 73
Deafness, Congenital, and Functional Heart Disease 57 20 43
Jlns1 57 20 73
Long Qt Interval-Deafness Syndrome 20 58
Jlns 25 43
Congenital Deafness and Functional Heart Disease 73
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 73

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 05-Mar-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 72 C0022387
Orphanet 58 ORPHA90647
UMLS 71 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 05-Mar-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 : 73 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 : 74 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 31.4 SCN5A KCNQ1 KCNH2 CACNA1C
2 cardiac arrest 30.9 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 familial long qt syndrome 30.1 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
9 short qt syndrome 29.5 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2 KCNH2
10 long qt syndrome 5 29.3 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
11 long qt syndrome 2 28.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
12 catecholaminergic polymorphic ventricular tachycardia 28.7 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
13 long qt syndrome 28.6 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
14 long qt syndrome 1 28.4 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
15 jervell and lange-nielsen syndrome 2 11.7
16 sinoatrial node dysfunction and deafness 11.4
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
18 branchiootic syndrome 1 10.6
19 autosomal recessive disease 10.5
20 iron metabolism disease 10.5
21 sensorineural hearing loss 10.5
22 deficiency anemia 10.5
23 iron deficiency anemia 10.5
24 epilepsy 10.3
25 short qt syndrome 2 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
26 atrial fibrillation, familial, 3 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
27 periodic paralyses 10.3 KCNJ2 KCNE3
28 pallister w syndrome 10.3
29 myocardial infarction 10.3
30 ischemia 10.3
31 myopathy 10.3
32 pathologic nystagmus 10.3
33 hypoglycemia 10.3
34 nonsyndromic deafness 10.3
35 paroxysmal ventricular fibrillation 10.3
36 cardiogenic shock 10.3
37 precursor t-cell acute lymphoblastic leukemia 10.3
38 familial short qt syndrome 10.3 KCNQ1 KCNJ2 KCNH2
39 brugada syndrome 6 10.3 SCN5A KCNE3
40 developmental and epileptic encephalopathy 14 10.3 SCN5A KCNQ1 KCNH2
41 mutism 10.3
42 first-degree atrioventricular block 10.3 SCN5A KCNJ2 KCNH2
43 third-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2
44 long qt syndrome 15 10.2 KCNJ2 KCNE1 CACNA1C
45 hyperkalemic periodic paralysis 10.2 SCN5A KCNJ2 KCNE3
46 idiopathic ventricular fibrillation, non brugada type 10.2 SCN5A CACNA1C
47 noonan syndrome with multiple lentigines 10.2 SCN5A KCNQ1 KCNH2
48 neuromuscular junction disease 10.2 SCN5A KCNH2 CACNA1C
49 brugada syndrome 3 10.2 KCNE2 CACNA1C ANK2
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 05-Mar-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 05-Mar-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 Hormone Antagonists Phase 2
4 Hormones Phase 2
5 Progestins Phase 2
6 Anti-Arrhythmia Agents 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 209)
# 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. 6 57 61
10077519 1999
3
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 6 61 25
11216980 2001
4
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 25 57 61
11140949 2000
5
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 25 61 6
9354783 1997
6
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. 61 25 6
9328483 1997
7
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. 57 6
9020846 1997
8
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. 61 57
10654932 2000
9
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 61 6
10024302 1999
10
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. 61 25
25471708 2015
11
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. 25 61
24372464 2015
12
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 25 61
25187895 2014
13
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 25 61
24552659 2014
14
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
15
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 61 25
22539601 2012
16
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 61 25
22629021 2012
17
Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. 61 25
21380488 2011
18
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. 25 61
20890437 2010
19
Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome. 61 25
19430811 2009
20
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature. 25 61
18805595 2008
21
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. 61 25
19027783 2008
22
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 61 25
18441444 2008
23
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. 61 25
18595190 2008
24
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
25
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 25 61
18752142 2008
26
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. 61 25
16911578 2006
27
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. 25 61
16987380 2006
28
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. 25 61
16987820 2006
29
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. 61 25
16461811 2006
30
Compound mutations: a common cause of severe long-QT syndrome. 57
15051636 2004
31
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 25 61
14510661 2003
32
Cochlear implantation in Jervell and Lange-Nielsen syndrome. 25 61
12443809 2002
33
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 25 61
12051962 2002
34
Cochlear implantation in Jervell and Lange-Nielsen syndrome. 61 25
11140992 2000
35
Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 25 61
10704188 1999
36
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. 6
9781056 1998
37
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 6
9445165 1998
38
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 6
9354802 1997
39
Long QT and Harvey-ras. 57
1346223 1992
40
Complete denervation of the heart in a child with congenital long QT and deafness. 57
3195493 1988
41
The surdo-cardiac syndrome. 57
2417856 1985
42
Termination of malignant ventricular arrhythmias with an implanted automatic defibrillator in human beings. 57
6991948 1980
43
The Q-T syndrome--a family description. 57
484260 1979
44
Observation on a case of Jervell and Lange-Neilsen syndrome in an adult. 57
5040262 1972
45
Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). 57
5295857 1966
46
GENETICAL ASPECTS OF THE CARDIO-AUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN (CONGENITAL DEAFNESS AND ELECTROCARDIOGRAPHIC ABNORMALITIES). 57
14228001 1964
47
CONGENITAL DEAFNESS ASSOCIATED WITH ELECTROCARDIOGRAPHIC ABNORMALITIES, FAINTING ATTACKS AND SUDDEN DEATH. A RECESSIVE SYNDROME. 57
14176667 1964
48
Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death. 57
13578073 1958
49
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. 57
13435203 1957
50
Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent? 25
27659101 2017

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 284)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_181798.1(KCNQ1):c.186dup (p.Arg63fs) Duplication Pathogenic 53069 rs397508117 11:2591942-2591943 11:2570712-2570713
2 KCNQ1 NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser) SNV Pathogenic 3127 rs120074186 11:2594209-2594209 11:2572979-2572979
3 KCNQ1 NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs) Deletion Pathogenic 53045 rs397508110 11:2549222-2549223 11:2527992-2527993
4 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs) Deletion Pathogenic 53025 rs397508103 11:2869093-2869112 11:2847863-2847882
5 KCNQ1 NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met) SNV Pathogenic 3138 rs120074189 11:2799233-2799233 11:2778003-2778003
6 KCNQ1 KCNQ1, IVS1 Variation Pathogenic 3139
7 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) SNV Pathogenic 3140 rs120074190 11:2799239-2799239 11:2778009-2778009
8 KCNE1 NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro) Indel Pathogenic 13475 rs281865421 21:35821756-35821761 21:34449458-34449463
9 KCNE1 NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) SNV Pathogenic 13476 rs28933384 21:35821913-35821913 21:34449615-34449615
10 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
11 KCNQ1 NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs) Deletion Pathogenic 438610 rs1554893092 11:2593291-2593292 11:2572061-2572062
12 KCNQ1 NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) SNV Pathogenic 375455 rs1554958045 11:2466443-2466443 11:2445213-2445213
13 KCNE1 NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) SNV Pathogenic 547162 rs758346045 21:35821795-35821795 21:34449497-34449497
14 KCNE1 NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) SNV Pathogenic 547163 rs779124360 21:35821883-35821883 21:34449585-34449585
15 KCNE1 NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) SNV Pathogenic 547164 rs1244688796 21:35821882-35821882 21:34449584-34449584
16 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
17 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
18 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) SNV Pathogenic 52953 rs12720458 11:2606494-2606494 11:2585264-2585264
19 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
20 KCNQ1OT1 NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs) Deletion Pathogenic 496690 rs1554903804 11:2683221-2683224 11:2661991-2661994
21 KCNQ1 NM_181798.1(KCNQ1):c.1153del (p.Ala385fs) Deletion Pathogenic 430941 rs1554919471 11:2790091-2790091 11:2768861-2768861
22 KCNQ1 NM_000218.3(KCNQ1):c.1732+5del Deletion Pathogenic 517664 rs1554920833 11:2798265-2798265 11:2777035-2777035
23 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
24 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) Deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
25 KCNQ1 NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) SNV Pathogenic 52946 rs397508072 11:2606475-2606475 11:2585245-2585245
26 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp) SNV Pathogenic 3140 rs120074190 11:2799239-2799239 11:2778009-2778009
27 KCNQ1 NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) SNV Pathogenic 53018 rs199472815 11:2799254-2799254 11:2778024-2778024
28 KCNQ1 NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) Indel Pathogenic 52999 rs397515637 11:2797229-2797234 11:2775999-2776004
29 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Pathogenic 13477 rs74315445 21:35821707-35821707 21:34449409-34449409
30 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
31 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely pathogenic 13477 rs74315445 21:35821707-35821707 21:34449409-34449409
32 KCNQ1 NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) SNV Likely pathogenic 53061 rs120074177 11:2591912-2591912 11:2570682-2570682
33 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Likely pathogenic 13477 rs74315445 21:35821707-35821707 21:34449409-34449409
34 KCNQ1 NM_181798.1(KCNQ1):c.22del (p.Val8fs) Deletion Likely pathogenic 200891 rs794728565 11:2549173-2549173 11:2527943-2527943
35 KCNQ1 NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) SNV Likely pathogenic 3142 rs17221854 11:2799220-2799220 11:2777990-2777990
36 KCNQ1 NM_181798.1(KCNQ1):c.445del (p.Ser149fs) Deletion Likely pathogenic 189232 rs786204778 11:2594121-2594121 11:2572891-2572891
37 KCNQ1 NM_000218.3(KCNQ1):c.488del (p.Leu163fs) Deletion Likely pathogenic 53050 rs397508112 11:2591868-2591868 11:2570638-2570638
38 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Conflicting interpretations of pathogenicity 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
39 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*391G>A SNV Uncertain significance 304244 rs774059974 11:2869624-2869624 11:2848394-2848394
40 KCNQ1 NM_181798.1(KCNQ1):c.1413+12C>T SNV Uncertain significance 304229 rs727505084 11:2799279-2799279 11:2778049-2778049
41 KCNE1 NM_000219.6(KCNE1):c.*1447C>G SNV Uncertain significance 339747 rs886057020 21:35820096-35820096 21:34447798-34447798
42 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*897G>T SNV Uncertain significance 304266 rs561861522 11:2870130-2870130 11:2848900-2848900
43 KCNE1 NM_000219.6(KCNE1):c.*196C>G SNV Uncertain significance 339767 rs76568182 21:35821347-35821347 21:34449049-34449049
44 KCNE1 NM_000219.6(KCNE1):c.*553A>G SNV Uncertain significance 339760 rs570907779 21:35820990-35820990 21:34448692-34448692
45 KCNE1 NM_000219.6(KCNE1):c.-377+13G>A SNV Uncertain significance 339783 rs41315351 21:35884312-35884312 21:34512014-34512014
46 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn) SNV Uncertain significance 304230 rs377661455 11:2869175-2869175 11:2847945-2847945
47 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*47A>C SNV Uncertain significance 304233 rs754931159 11:2869280-2869280 11:2848050-2848050
48 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*877C>G SNV Uncertain significance 304263 rs763163556 11:2870110-2870110 11:2848880-2848880
49 KCNE1 NM_000219.6(KCNE1):c.*2320G>T SNV Uncertain significance 339726 rs745512218 21:35819223-35819223 21:34446925-34446925
50 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*1055C>T SNV Uncertain significance 304271 rs375155898 11:2870288-2870288 11:2849058-2849058

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

73
# 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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