JLNS1
MCID: JRV004
MIFTS: 56

Jervell and Lange-Nielsen Syndrome 1 (JLNS1)

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

Aliases & Classifications for Jervell and Lange-Nielsen Syndrome 1

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

Name: Jervell and Lange-Nielsen Syndrome 1 56 73 29 6
Jervell and Lange-Nielsen Syndrome 56 74 24 52 25 58 36 29 13 6 39
Jervell-Lange Nielsen Syndrome 12 25 43 15 71
Cardioauditory Syndrome of Jervell and Lange-Nielsen 56 52 25 73
Prolonged Qt Interval in Ekg and Sudden Death 56 52 25 73
Surdo-Cardiac Syndrome 56 52 25 73
Deafness, Congenital, and Functional Heart Disease 56 52 25
Jlns1 56 52 73
Long Qt Interval-Deafness Syndrome 52 58
Jlns 24 25
Congenital Deafness and Functional Heart Disease 73
Long Qt Interval-Hearing Loss Syndrome 58
Autosomal Recessive Long Qt Syndrome 25
Jervell and Lange-Nielson Syndrome 12
Cardio-Auditory-Syncope Syndrome 25
Jervell Lange-Nielsen Syndrome 52
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:

56
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 56 220400
OMIM Phenotypic Series 56 PS220400
KEGG 36 H02091
MeSH 43 D029593
NCIt 49 C84793
SNOMED-CT 67 373905003
MESH via Orphanet 44 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

NIH Rare Diseases : 52 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 syncope, 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 testes, and related phenotypes are bilateral sensorineural hearing impairment and prolonged qtc interval

Genetics Home Reference : 25 Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.

OMIM : 56 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)

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 92)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 31.2 SCN5A KCNQ1 KCNH2 ANK2
2 syncope 31.1 SCN5A KCNQ1 KCNH2
3 cardiac arrest 30.6 SCN5A KCNQ1 KCNH2 CASQ2 ANK2
4 familial long qt syndrome 30.5 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
5 ventricular fibrillation, paroxysmal familial, 1 30.1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C
6 cardiac arrhythmia 29.9 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 CACNA1C
7 sudden infant death syndrome 29.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
8 heart disease 29.4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 long qt syndrome 5 27.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
10 long qt syndrome 2 27.2 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
11 long qt syndrome 27.0 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
12 short qt syndrome 26.8 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2
13 catecholaminergic polymorphic ventricular tachycardia 26.6 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
14 long qt syndrome 1 25.9 SNTA1 SCN5A SCN4B KCNQ1OT1 KCNQ1-AS1 KCNQ1
15 jervell and lange-nielsen syndrome 2 12.0
16 sinoatrial node dysfunction and deafness 11.7
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.9
18 branchiootic syndrome 1 10.8
19 autosomal recessive disease 10.7
20 iron metabolism disease 10.7
21 sensorineural hearing loss 10.6
22 deficiency anemia 10.6
23 iron deficiency anemia 10.6
24 epilepsy 10.5
25 angina pectoris 10.5
26 mutism 10.5
27 pallister w syndrome 10.4
28 inflammatory bowel disease 10.4
29 ischemia 10.4
30 myopathy 10.4
31 pathologic nystagmus 10.4
32 hypoglycemia 10.4
33 nonsyndromic deafness 10.4
34 paroxysmal ventricular fibrillation 10.4
35 cardiogenic shock 10.4
36 precursor t-cell acute lymphoblastic leukemia 10.4
37 short qt syndrome 2 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
38 atrial fibrillation, familial, 3 10.3 KCNQ1OT1 KCNQ1-AS1 KCNQ1
39 fainting 10.3
40 periodic paralyses 10.2 KCNJ2 KCNE3
41 epileptic encephalopathy, early infantile, 14 10.2 SCN5A KCNQ1 KCNH2
42 brugada syndrome 6 10.2 SCN5A KCNE3
43 familial short qt syndrome 10.2 KCNQ1 KCNJ2 KCNH2
44 wilms tumor predisposition 10.2 KCNQ1OT1 KCNQ1
45 third-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
46 progressive familial heart block 10.1 SCN5A KCNQ1 KCNH2
47 first-degree atrioventricular block 10.1 SCN5A KCNJ2
48 hyperkalemic periodic paralysis 10.1 SCN5A KCNJ2 KCNE3
49 long qt syndrome 15 10.1 KCNJ2 KCNE1 CACNA1C
50 paramyotonia congenita of von eulenburg 10.1 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 arrhythmia 58 Frequent (79-30%)
13 prolonged qt interval 31 HP:0001657
14 sudden cardiac death 31 HP:0001645
15 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM:

56
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

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


syncope

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CACNA1C CASQ2 KCNH2 KCNJ2 KCNQ1 MEOX1

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 122647-32-9, 122647-31-8 60753
3 Hormones Phase 2
4 Hormone Antagonists 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
2 Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort Unknown status NCT03544918
3 Long QT Syndrome-Population Genetics and Cardiac Studies Completed NCT00005176

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, Testes

Publications for Jervell and Lange-Nielsen Syndrome 1

Articles related to Jervell and Lange-Nielsen Syndrome 1:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Molecular basis of the long-QT syndrome associated with deafness. 56 6 24
9164812 1997
2
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. 61 56 6
10077519 1999
3
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. 61 24 6
11216980 2001
4
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 56 24 61
11140949 2000
5
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. 6 24 61
9328483 1997
6
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 24 61 6
9354783 1997
7
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. 6 56
9020846 1997
8
Jervell and Lange-Nielsen Syndrome 61 6
20301579 2002
9
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. 61 56
10654932 2000
10
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 61 6
10024302 1999
11
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome. 24 61
25471708 2015
12
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. 61 24
24372464 2015
13
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 24 61
25187895 2014
14
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 24
24552659 2014
15
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. 61 24
22805636 2013
16
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 61 24
22539601 2012
17
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 61 24
22629021 2012
18
Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. 24 61
21380488 2011
19
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family. 61 24
20890437 2010
20
Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome. 24 61
19430811 2009
21
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature. 61 24
18805595 2008
22
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. 61 24
19027783 2008
23
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 24 61
18441444 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. 24 61
18400097 2008
25
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance. 61 24
18595190 2008
26
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. 24 61
18752142 2008
27
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. 24 61
16987380 2006
28
Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome. 24 61
16987820 2006
29
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. 61 24
16911578 2006
30
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. 61 24
16461811 2006
31
Compound mutations: a common cause of severe long-QT syndrome. 56
15051636 2004
32
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 61 24
14510661 2003
33
Cochlear implantation in Jervell and Lange-Nielsen syndrome. 61 24
12443809 2002
34
Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 24 61
12051962 2002
35
Cochlear implantation in Jervell and Lange-Nielsen syndrome. 24 61
11140992 2000
36
Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 24 61
10704188 1999
37
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. 6
9781056 1998
38
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 6
9445165 1998
39
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 6
9354802 1997
40
Long QT and Harvey-ras. 56
1346223 1992
41
Complete denervation of the heart in a child with congenital long QT and deafness. 56
3195493 1988
42
The surdo-cardiac syndrome. 56
2417856 1985
43
Termination of malignant ventricular arrhythmias with an implanted automatic defibrillator in human beings. 56
6991948 1980
44
The Q-T syndrome--a family description. 56
484260 1979
45
Observation on a case of Jervell and Lange-Neilsen syndrome in an adult. 56
5040262 1972
46
Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). 56
5295857 1966
47
GENETICAL ASPECTS OF THE CARDIO-AUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN (CONGENITAL DEAFNESS AND ELECTROCARDIOGRAPHIC ABNORMALITIES). 56
14228001 1964
48
CONGENITAL DEAFNESS ASSOCIATED WITH ELECTROCARDIOGRAPHIC ABNORMALITIES, FAINTING ATTACKS AND SUDDEN DEATH. A RECESSIVE SYNDROME. 56
14176667 1964
49
Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death. 56
13578073 1958
50
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. 56
13435203 1957

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 174) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_181798.1(KCNQ1):c.1045_1048del (p.Met349fs)deletion Pathogenic 496690 rs1554903804 11:2683221-2683224 11:2661991-2661994
2 KCNQ1 NM_000218.3(KCNQ1):c.1732+5deldeletion Pathogenic 517664 rs1554920833 11:2798265-2798265 11:2777035-2777035
3 KCNQ1 NM_181798.1(KCNQ1):c.1153del (p.Ala385fs)deletion Pathogenic 430941 rs1554919471 11:2790091-2790091 11:2768861-2768861
4 KCNQ1 NM_181798.1(KCNQ1):c.352_353del (p.Gly118fs)deletion Pathogenic 438610 rs1554893092 11:2593291-2593292 11:2572061-2572062
5 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser)SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
6 KCNQ1 NM_181798.1(KCNQ1):c.1379C>T (p.Thr460Met)SNV Pathogenic 3138 rs120074189 11:2799233-2799233 11:2778003-2778003
7 KCNQ1 KCNQ1, IVS1undetermined variant Pathogenic 3139
8 KCNQ1 NM_181798.1(KCNQ1):c.1385G>A (p.Gly462Asp)SNV Pathogenic 3140 rs120074190 11:2799239-2799239 11:2778009-2778009
9 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
10 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp)SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
11 KCNQ1 NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs)indel Pathogenic 52999 rs397515637 11:2797229-2797234 11:2775999-2776004
12 KCNQ1 NM_181798.1(KCNQ1):c.1511_1530del (p.Pro504fs)deletion Pathogenic 53025 rs397508103 11:2869093-2869112 11:2847863-2847882
13 KCNQ1 NM_181798.1(KCNQ1):c.70_71del (p.Leu24fs)deletion Pathogenic 53045 rs397508110 11:2549222-2549223 11:2527992-2527993
14 KCNQ1 NM_181798.1(KCNQ1):c.186dup (p.Arg63fs)duplication Pathogenic 53069 rs397508117 11:2591942-2591943 11:2570712-2570713
15 KCNQ1 NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)deletion Pathogenic 53072 rs397508118 11:2591950-2591954 11:2570720-2570724
16 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His)SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
17 KCNQ1 NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter)SNV Pathogenic 375455 rs1554958045 11:2466443-2466443 11:2445213-2445213
18 KCNQ1 NM_181798.1(KCNQ1):c.204del (p.Lys69fs)deletion Pathogenic/Likely pathogenic 53076 rs397508120 11:2591964-2591964 11:2570734-2570734
19 KCNQ1 NM_181798.1(KCNQ1):c.107del (p.Leu36fs)deletion Pathogenic/Likely pathogenic 53050 rs397508112 11:2591868-2591868 11:2570638-2570638
20 KCNQ1 NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys)SNV Pathogenic/Likely pathogenic 3142 rs17221854 11:2799220-2799220 11:2777990-2777990
21 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg)SNV Pathogenic/Likely pathogenic 52953 rs12720458 11:2606494-2606494 11:2585264-2585264
22 KCNQ1 NM_181798.1(KCNQ1):c.533G>C (p.Trp178Ser)SNV Pathogenic/Likely pathogenic 3127 rs120074186 11:2594209-2594209 11:2572979-2572979
23 KCNQ1 NM_181798.1(KCNQ1):c.445del (p.Ser149fs)deletion Likely pathogenic 189232 rs786204778 11:2594121-2594121 11:2572891-2572891
24 KCNQ1 NM_181798.1(KCNQ1):c.22del (p.Val8fs)deletion Likely pathogenic 200891 rs794728565 11:2549173-2549173 11:2527943-2527943
25 KCNQ1 NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His)SNV Conflicting interpretations of pathogenicity 67038 rs199472788 11:2790115-2790115 11:2768885-2768885
26 KCNQ1 NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)SNV Conflicting interpretations of pathogenicity 179293 rs727504769 11:2594195-2594195 11:2572965-2572965
27 KCNQ1 NM_000218.3(KCNQ1):c.1794+11G>ASNV Conflicting interpretations of pathogenicity 138006 rs186188610 11:2799278-2799278 11:2778048-2778048
28 KCNQ1 NM_181798.1(KCNQ1):c.1563C>T (p.Val521=)SNV Conflicting interpretations of pathogenicity 138008 rs201698592 11:2869146-2869146 11:2847916-2847916
29 KCNQ1 NM_000218.3(KCNQ1):c.-5T>CSNV Conflicting interpretations of pathogenicity 138009 rs532941548 11:2466324-2466324 11:2445094-2445094
30 KCNQ1 NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)SNV Conflicting interpretations of pathogenicity 138012 rs148121889 11:2549230-2549230 11:2528000-2528000
31 KCNQ1 NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)SNV Conflicting interpretations of pathogenicity 163744 rs147091980 11:2869002-2869002 11:2847772-2847772
32 KCNQ1 NM_181798.1(KCNQ1):c.747+5G>ASNV Conflicting interpretations of pathogenicity 200842 rs76735093 11:2606542-2606542 11:2585312-2585312
33 KCNQ1 NM_181798.1(KCNQ1):c.1095A>G (p.Glu365=)SNV Conflicting interpretations of pathogenicity 200812 rs370676650 11:2683273-2683273 11:2662043-2662043
34 KCNQ1 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)SNV Conflicting interpretations of pathogenicity 200864 rs11601907 11:2869188-2869188 11:2847958-2847958
35 KCNQ1 NM_181798.1(KCNQ1):c.771C>T (p.Ala257=)SNV Conflicting interpretations of pathogenicity 215662 rs144615901 11:2608823-2608823 11:2587593-2587593
36 KCNQ1 NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=)SNV Conflicting interpretations of pathogenicity 237226 rs112113213 11:2869077-2869077 11:2847847-2847847
37 KCNQ1 NM_181798.1(KCNQ1):c.1133+3G>ASNV Conflicting interpretations of pathogenicity 304226 rs374767819 11:2683314-2683314 11:2662084-2662084
38 KCNQ1 NM_181798.1(KCNQ1):c.1133+9C>TSNV Conflicting interpretations of pathogenicity 304227 rs770840921 11:2683320-2683320 11:2662090-2662090
39 KCNQ1 NM_181798.1(KCNQ1):c.870+13C>TSNV Conflicting interpretations of pathogenicity 304220 rs201364493 11:2608935-2608935 11:2587705-2587705
40 KCNQ1 NM_181798.1(KCNQ1):c.*717T>GSNV Conflicting interpretations of pathogenicity 304257 rs189162344 11:2869950-2869950 11:2848720-2848720
41 KCNQ1 NM_181798.1(KCNQ1):c.*904T>CSNV Conflicting interpretations of pathogenicity 304267 rs186055804 11:2870137-2870137 11:2848907-2848907
42 KCNQ1 NM_181798.1(KCNQ1):c.*391G>ASNV Conflicting interpretations of pathogenicity 304244 rs774059974 11:2869624-2869624 11:2848394-2848394
43 KCNQ1 NM_181798.1(KCNQ1):c.6-7C>TSNV Conflicting interpretations of pathogenicity 304216 rs201682200 11:2549151-2549151 11:2527921-2527921
44 KCNQ1 NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr)SNV Conflicting interpretations of pathogenicity 3128 rs120074187 11:2594193-2594193 11:2572963-2572963
45 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)SNV Conflicting interpretations of pathogenicity 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
46 KCNQ1 NM_000218.3(KCNQ1):c.780+12G>ASNV Conflicting interpretations of pathogenicity 879674 11:2593351-2593351 11:2572121-2572121
47 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)SNV Conflicting interpretations of pathogenicity 13477 rs74315445 21:35821707-35821707 21:34449409-34449409
48 KCNQ1 NM_181798.1(KCNQ1):c.267C>A (p.Gly89=)SNV Conflicting interpretations of pathogenicity 413279 rs146350010 11:2592598-2592598 11:2571368-2571368
49 KCNQ1 NM_000218.3(KCNQ1):c.*81C>TSNV Conflicting interpretations of pathogenicity 880305 11:2869314-2869314 11:2848084-2848084
50 KCNQ1 NM_181798.1(KCNQ1):c.994G>A (p.Asp332Asn)SNV Conflicting interpretations of pathogenicity 628813 rs747704276 11:2610066-2610066 11:2588836-2588836

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
12.62 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 11.93 SNTA1 SCN5A SCN4B KCNQ1 KCNH2
5
Show member pathways
11.82 KCNQ1 KCNJ2 KCNH2
6
Show member pathways
11.73 SCN5A SCN4B ANK2
7
Show member pathways
11.48 SCN5A SCN4B KCNQ1 KCNE5 KCNE4 KCNE3
8 11.18 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5
9 11.06 SCN5A SCN4B ANK2
10 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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 membrane raft GO:0045121 9.67 KCNQ1 KCNE3 KCNE1 ANK2
3 sarcolemma GO:0042383 9.62 SNTA1 SCN5A CACNA1C ANK2
4 T-tubule GO:0030315 9.56 SCN5A KCNJ2 CACNA1C ANK2
5 intercalated disc GO:0014704 9.46 SCN5A SCN4B KCNJ2 ANK2
6 voltage-gated sodium channel complex GO:0001518 9.43 SCN5A SCN4B
7 Z disc GO:0030018 9.35 SCN5A KCNE1 CASQ2 CACNA1C ANK2
8 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 41)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.25 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 muscle contraction GO:0060048 10.02 SCN5A SCN4B KCNQ1 KCNH2 KCNE5 CASQ2
5 cardiac conduction GO:0061337 10.02 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
6 ventricular cardiac muscle cell action potential GO:0086005 9.96 SNTA1 SCN5A KCNQ1 KCNH2 KCNE5 KCNE4
7 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
8 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.93 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.93 SCN5A SCN4B KCNJ2 KCNE2 KCNE1 CACNA1C
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.92 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
11 membrane repolarization during action potential GO:0086011 9.92 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE4 KCNE3
12 regulation of heart rate GO:0002027 9.91 SNTA1 SCN5A CASQ2 ANK2
13 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 CASQ2
14 potassium ion export across plasma membrane GO:0097623 9.91 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
15 regulation of potassium ion transmembrane transport GO:1901379 9.9 KCNH2 KCNE5 KCNE2 KCNE1
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.89 SCN5A SCN4B KCNJ2 CACNA1C
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.89 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
18 membrane repolarization GO:0086009 9.88 KCNQ1 KCNH2 KCNE2 KCNE1
19 atrial cardiac muscle cell action potential GO:0086014 9.88 SCN5A KCNQ1 KCNE5 ANK2
20 cellular response to drug GO:0035690 9.85 KCNQ1 KCNH2 KCNE2
21 regulation of ion transmembrane transport GO:0034765 9.85 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE4
22 potassium ion import across plasma membrane GO:1990573 9.82 KCNJ2 KCNH2 KCNE2
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.8 CASQ2 CACNA1C ANK2
24 regulation of cardiac muscle cell contraction GO:0086004 9.8 SCN5A KCNJ2 ANK2
25 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.79 SCN5A KCNQ1 KCNE5
26 negative regulation of potassium ion export across plasma membrane GO:1903765 9.78 KCNH2 KCNE5 KCNE3
27 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.7 SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE5
28 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
29 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.68 CASQ2 ANK2
30 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A SCN4B
31 negative regulation of potassium ion transmembrane transport GO:1901380 9.68 KCNH2 KCNE5
32 positive regulation of voltage-gated calcium channel activity GO:1901387 9.67 KCNE3 KCNE2
33 regulation of sodium ion transmembrane transport GO:1902305 9.67 SNTA1 SCN5A
34 regulation of delayed rectifier potassium channel activity GO:1902259 9.66 KCNE2 KCNE1
35 SA node cell action potential GO:0086015 9.66 SCN5A ANK2
36 negative regulation of voltage-gated potassium channel activity GO:1903817 9.65 KCNE3 KCNE2
37 membrane depolarization during SA node cell action potential GO:0086046 9.65 SCN5A ANK2
38 membrane depolarization during AV node cell action potential GO:0086045 9.65 SCN5A CACNA1C
39 AV node cell action potential GO:0086016 9.64 SCN5A SCN4B
40 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.63 SCN5A CACNA1C
41 regulation of heart rate by cardiac conduction GO:0086091 9.4 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE5

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

(show all 15)
# 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 9.83 SNTA1 SCN5A KCNQ1 CACNA1C
4 potassium channel regulator activity GO:0015459 9.83 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5 ion channel activity GO:0005216 9.81 SCN5A KCNQ1 KCNH2 CACNA1C
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 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.7 KCNQ1 KCNH2 KCNE5 KCNE4 KCNE3 KCNE2
9 scaffold protein binding GO:0097110 9.67 SCN5A KCNQ1 KCNH2
10 ion channel binding GO:0044325 9.65 SNTA1 SCN5A SCN4B KCNQ1 KCNE5 KCNE4
11 inward rectifier potassium channel activity GO:0005242 9.63 KCNJ2 KCNH2 KCNE2
12 voltage-gated sodium channel activity GO:0005248 9.55 SCN5A SCN4B
13 nitric-oxide synthase binding GO:0050998 9.54 SNTA1 SCN5A
14 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.48 SCN5A SCN4B
15 voltage-gated ion channel activity GO:0005244 9.32 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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