JLNS2
MCID: JRV002
MIFTS: 31

Jervell and Lange-Nielsen Syndrome 2 (JLNS2)

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

Aliases & Classifications for Jervell and Lange-Nielsen Syndrome 2

MalaCards integrated aliases for Jervell and Lange-Nielsen Syndrome 2:

Name: Jervell and Lange-Nielsen Syndrome 2 57 72 29 13 6 70
Jlns2 57 72
Cardioauditory Syndrome of Jervell and Lange-Nielsen 72
Congenital Deafness and Functional Heart Disease 72
Prolonged Qt Interval in Ekg and Sudden Death 72
Jervell and Lange-Nielsen Syndrome, Type 2 39
Jervell-Lange Nielsen Syndrome 70
Long Qt Interval-Deafness 72
Surdo-Cardiac Syndrome 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
jervell and lange-nielsen syndrome 2:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 612347
OMIM Phenotypic Series 57 PS220400
MeSH 44 D029593
MedGen 41 C2676723
UMLS 70 C0022387 C2676723

Summaries for Jervell and Lange-Nielsen Syndrome 2

OMIM® : 57 The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness. For a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see 220400. (612347) (Updated 05-Apr-2021)

MalaCards based summary : Jervell and Lange-Nielsen Syndrome 2, also known as jlns2, is related to jervell and lange-nielsen syndrome 1 and branchiootic syndrome 1, and has symptoms including syncope An important gene associated with Jervell and Lange-Nielsen Syndrome 2 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1). The drugs Progesterone and Ibutilide have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

UniProtKB/Swiss-Prot : 72 Jervell and Lange-Nielsen syndrome 2: 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.

Related Diseases for Jervell and Lange-Nielsen Syndrome 2

Diseases in the Jervell and Lange-Nielsen Syndrome 1 family:

Jervell and Lange-Nielsen Syndrome 2

Diseases related to Jervell and Lange-Nielsen Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 jervell and lange-nielsen syndrome 1 12.0
2 branchiootic syndrome 1 10.6
3 sensorineural hearing loss 10.5
4 long qt syndrome 10.5
5 familial long qt syndrome 10.5
6 syncope 10.3
7 ventricular fibrillation, paroxysmal familial, 1 10.2
8 fainting 10.1

Graphical network of the top 20 diseases related to Jervell and Lange-Nielsen Syndrome 2:



Diseases related to Jervell and Lange-Nielsen Syndrome 2

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome 2

Human phenotypes related to Jervell and Lange-Nielsen Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 prolonged qt interval 31 HP:0001657
3 congenital sensorineural hearing impairment 31 HP:0008527
4 syncope 31 HP:0001279
5 torsade de pointes 31 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
prolonged qt interval on ekg
torsades de pointes

Head And Neck Ears:
congenital sensorineural hearing loss

Clinical features from OMIM®:

612347 (Updated 05-Apr-2021)

UMLS symptoms related to Jervell and Lange-Nielsen Syndrome 2:


syncope

Drugs & Therapeutics for Jervell and Lange-Nielsen Syndrome 2

Drugs for Jervell and Lange-Nielsen Syndrome 2 (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 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 2

Genetic Tests for Jervell and Lange-Nielsen Syndrome 2

Genetic tests related to Jervell and Lange-Nielsen Syndrome 2:

# Genetic test Affiliating Genes
1 Jervell and Lange-Nielsen Syndrome 2 29 KCNE1

Anatomical Context for Jervell and Lange-Nielsen Syndrome 2

MalaCards organs/tissues related to Jervell and Lange-Nielsen Syndrome 2:

40
Heart

Publications for Jervell and Lange-Nielsen Syndrome 2

Articles related to Jervell and Lange-Nielsen Syndrome 2:

# Title Authors PMID Year
1
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 6 57
9445165 1998
2
Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 6
9354802 1997
3
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 6
9354783 1997
4
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
9328483 1997
5
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. 57
9341873 1997
6
Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2. 61
33514733 2021
7
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. 61
30461122 2019

Variations for Jervell and Lange-Nielsen Syndrome 2

ClinVar genetic disease variations for Jervell and Lange-Nielsen Syndrome 2:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE1 NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro) Indel Pathogenic 13475 rs281865421 GRCh37: 21:35821756-35821761
GRCh38: 21:34449458-34449463
2 KCNE1 NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) SNV Pathogenic 13476 rs28933384 GRCh37: 21:35821913-35821913
GRCh38: 21:34449615-34449615
3 KCNE1 NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) SNV Pathogenic 547162 rs758346045 GRCh37: 21:35821795-35821795
GRCh38: 21:34449497-34449497
4 KCNE1 NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) SNV Pathogenic 547163 rs779124360 GRCh37: 21:35821883-35821883
GRCh38: 21:34449585-34449585
5 KCNE1 NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) SNV Pathogenic 547164 rs1244688796 GRCh37: 21:35821882-35821882
GRCh38: 21:34449584-34449584
6 KCNE1 NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) SNV Pathogenic 13477 rs74315445 GRCh37: 21:35821707-35821707
GRCh38: 21:34449409-34449409
7 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
8 KCNE1 NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) SNV Uncertain significance 132673 rs199473360 GRCh37: 21:35821686-35821686
GRCh38: 21:34449388-34449388
9 KCNE1 NM_000219.6(KCNE1):c.200G>A (p.Arg67His) SNV Uncertain significance 132661 rs79654911 GRCh37: 21:35821733-35821733
GRCh38: 21:34449435-34449435
10 KCNE1 NM_000219.6(KCNE1):c.111C>T (p.Ser37=) SNV Uncertain significance 506395 rs150458884 GRCh37: 21:35821822-35821822
GRCh38: 21:34449524-34449524
11 KCNE1 NM_000219.6(KCNE1):c.95G>A (p.Arg32His) SNV Uncertain significance 132683 rs17857111 GRCh37: 21:35821838-35821838
GRCh38: 21:34449540-34449540
12 KCNE1 NM_000219.6(KCNE1):c.*1556G>A SNV Uncertain significance 339745 rs886057019 GRCh37: 21:35819987-35819987
GRCh38: 21:34447689-34447689
13 KCNE1 NM_000219.6(KCNE1):c.*553A>G SNV Uncertain significance 339760 rs570907779 GRCh37: 21:35820990-35820990
GRCh38: 21:34448692-34448692
14 KCNE1 NM_000219.6(KCNE1):c.-377+13G>A SNV Uncertain significance 339783 rs41315351 GRCh37: 21:35884312-35884312
GRCh38: 21:34512014-34512014
15 KCNE1 NM_000219.6(KCNE1):c.*2320G>T SNV Uncertain significance 339726 rs745512218 GRCh37: 21:35819223-35819223
GRCh38: 21:34446925-34446925
16 KCNE1 NM_000219.6(KCNE1):c.*493C>T SNV Uncertain significance 339761 rs77190660 GRCh37: 21:35821050-35821050
GRCh38: 21:34448752-34448752
17 KCNE1 NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) SNV Uncertain significance 898534 GRCh37: 21:35821586-35821586
GRCh38: 21:34449288-34449288
18 KCNE1 NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) SNV Uncertain significance 854638 GRCh37: 21:35821754-35821754
GRCh38: 21:34449456-34449456
19 KCNE1 NM_000219.6(KCNE1):c.*1539C>A SNV Uncertain significance 898400 GRCh37: 21:35820004-35820004
GRCh38: 21:34447706-34447706
20 KCNE1 NM_000219.6(KCNE1):c.*1542G>A SNV Uncertain significance 898399 GRCh37: 21:35820001-35820001
GRCh38: 21:34447703-34447703
21 KCNE1 NM_000219.6(KCNE1):c.-521G>A SNV Uncertain significance 897503 GRCh37: 21:35884469-35884469
GRCh38: 21:34512171-34512171
22 KCNE1 NM_000219.6(KCNE1):c.-24A>G SNV Uncertain significance 897437 GRCh37: 21:35821956-35821956
GRCh38: 21:34449658-34449658
23 KCNE1 NM_000219.6(KCNE1):c.-170C>T SNV Uncertain significance 898605 GRCh37: 21:35883407-35883407
GRCh38: 21:34511109-34511109
24 KCNE1 NM_000219.6(KCNE1):c.*2475A>G SNV Uncertain significance 895258 GRCh37: 21:35819068-35819068
GRCh38: 21:34446770-34446770
25 KCNE1 NM_000219.6(KCNE1):c.*1290G>A SNV Uncertain significance 895411 GRCh37: 21:35820253-35820253
GRCh38: 21:34447955-34447955
26 KCNE1 NM_000219.6(KCNE1):c.*375C>T SNV Uncertain significance 895472 GRCh37: 21:35821168-35821168
GRCh38: 21:34448870-34448870
27 KCNE1 NM_000219.6(KCNE1):c.*2393C>T SNV Uncertain significance 896696 GRCh37: 21:35819150-35819150
GRCh38: 21:34446852-34446852
28 KCNE1 NM_000219.6(KCNE1):c.*1857G>A SNV Uncertain significance 896751 GRCh37: 21:35819686-35819686
GRCh38: 21:34447388-34447388
29 KCNE1 NM_000219.6(KCNE1):c.*1078G>A SNV Uncertain significance 896808 GRCh37: 21:35820465-35820465
GRCh38: 21:34448167-34448167
30 KCNE1 NM_000219.6(KCNE1):c.*366A>C SNV Uncertain significance 896876 GRCh37: 21:35821177-35821177
GRCh38: 21:34448879-34448879
31 KCNE1 NM_000219.6(KCNE1):c.*278A>T SNV Uncertain significance 896877 GRCh37: 21:35821265-35821265
GRCh38: 21:34448967-34448967
32 KCNE1 NM_000219.6(KCNE1):c.-5C>A SNV Uncertain significance 504745 rs191334763 GRCh37: 21:35821937-35821937
GRCh38: 21:34449639-34449639
33 KCNE1 NM_000219.6(KCNE1):c.-334G>A SNV Uncertain significance 897027 GRCh37: 21:35883571-35883571
GRCh38: 21:34511273-34511273
34 KCNE1 NM_000219.6(KCNE1):c.*2298C>G SNV Uncertain significance 897146 GRCh37: 21:35819245-35819245
GRCh38: 21:34446947-34446947
35 KCNE1 NM_000219.6(KCNE1):c.*2206G>A SNV Uncertain significance 897147 GRCh37: 21:35819337-35819337
GRCh38: 21:34447039-34447039
36 KCNE1 NM_000219.6(KCNE1):c.*960C>T SNV Uncertain significance 897296 GRCh37: 21:35820583-35820583
GRCh38: 21:34448285-34448285
37 KCNE1 NM_000219.6(KCNE1):c.*2008G>A SNV Uncertain significance 339731 rs886057011 GRCh37: 21:35819535-35819535
GRCh38: 21:34447237-34447237
38 KCNE1 NM_000219.6(KCNE1):c.-82T>G SNV Uncertain significance 339775 rs145416040 GRCh37: 21:35830983-35830983
GRCh38: 21:34458685-34458685
39 KCNE1 NM_000219.6(KCNE1):c.*2413T>A SNV Uncertain significance 339724 rs747442476 GRCh37: 21:35819130-35819130
GRCh38: 21:34446832-34446832
40 KCNE1 NM_000219.6(KCNE1):c.*1043T>C SNV Uncertain significance 339754 rs886057022 GRCh37: 21:35820500-35820500
GRCh38: 21:34448202-34448202
41 KCNE1 NM_000219.6(KCNE1):c.*1192A>G SNV Uncertain significance 339752 rs886057021 GRCh37: 21:35820351-35820351
GRCh38: 21:34448053-34448053
42 KCNE1 NM_000219.6(KCNE1):c.54G>A (p.Gln18=) SNV Uncertain significance 339772 rs149875299 GRCh37: 21:35821879-35821879
GRCh38: 21:34449581-34449581
43 KCNE1 NM_000219.6(KCNE1):c.*1928T>C SNV Uncertain significance 339735 rs886057015 GRCh37: 21:35819615-35819615
GRCh38: 21:34447317-34447317
44 KCNE1 NM_000219.6(KCNE1):c.*1701A>G SNV Uncertain significance 339741 rs886057017 GRCh37: 21:35819842-35819842
GRCh38: 21:34447544-34447544
45 KCNE1 NM_000219.6(KCNE1):c.*1832C>T SNV Uncertain significance 339738 rs886057016 GRCh37: 21:35819711-35819711
GRCh38: 21:34447413-34447413
46 KCNE1 NM_000219.6(KCNE1):c.*1859G>A SNV Uncertain significance 339736 rs754021039 GRCh37: 21:35819684-35819684
GRCh38: 21:34447386-34447386
47 KCNE1 NM_000219.6(KCNE1):c.*995G>C SNV Uncertain significance 339755 rs886057023 GRCh37: 21:35820548-35820548
GRCh38: 21:34448250-34448250
48 KCNE1 NM_000219.6(KCNE1):c.*1447C>G SNV Uncertain significance 339747 rs886057020 GRCh37: 21:35820096-35820096
GRCh38: 21:34447798-34447798
49 KCNE1 NM_000219.6(KCNE1):c.*196C>G SNV Uncertain significance 339767 rs76568182 GRCh37: 21:35821347-35821347
GRCh38: 21:34449049-34449049
50 KCNE1 NM_000219.6(KCNE1):c.-467A>T SNV Uncertain significance 339786 rs558817846 GRCh37: 21:35884415-35884415
GRCh38: 21:34512117-34512117

UniProtKB/Swiss-Prot genetic disease variations for Jervell and Lange-Nielsen Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 KCNE1 p.Thr7Ile VAR_008897 rs28933384
2 KCNE1 p.Val47Phe VAR_008898 rs199473353
3 KCNE1 p.Leu51His VAR_008899
4 KCNE1 p.Asp76Asn VAR_008901 rs74315445

Expression for Jervell and Lange-Nielsen Syndrome 2

Search GEO for disease gene expression data for Jervell and Lange-Nielsen Syndrome 2.

Pathways for Jervell and Lange-Nielsen Syndrome 2

GO Terms for Jervell and Lange-Nielsen Syndrome 2

Sources for Jervell and Lange-Nielsen Syndrome 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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