JLNS2
MCID: JRV002
MIFTS: 26

Jervell and Lange-Nielsen Syndrome 2 (JLNS2)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic 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 53 75 29 13 6 73
Jlns2 57 53 75
Cardioauditory Syndrome of Jervell and Lange-Nielsen 75
Congenital Deafness and Functional Heart Disease 75
Prolonged Qt Interval in Ekg and Sudden Death 75
Jervell and Lange-Nielsen Syndrome, Type 2 40
Jervell-Lange Nielsen Syndrome 73
Long Qt Interval-Deafness 75
Surdo-Cardiac Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
jervell and lange-nielsen syndrome 2:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Jervell and Lange-Nielsen Syndrome 2

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Jervell and Lange-Nielsen Syndrome 2, also known as jlns2, is related to jervell and lange-nielsen 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). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Description from OMIM: 612347

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 12.2

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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


syncope

Drugs & Therapeutics for Jervell and Lange-Nielsen Syndrome 2

Search Clinical Trials , 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:

41
Heart

Publications for Jervell and Lange-Nielsen Syndrome 2

Articles related to Jervell and Lange-Nielsen Syndrome 2:

# Title Authors Year
1
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. ( 11140949 )
2000

Variations for Jervell and Lange-Nielsen Syndrome 2

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

75
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE1 NM_000219.5(KCNE1): c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro) indel Pathogenic rs281865421 GRCh37 Chromosome 21, 35821756: 35821761
2 KCNE1 NM_000219.5(KCNE1): c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro) indel Pathogenic rs281865421 GRCh38 Chromosome 21, 34449458: 34449463
3 KCNE1 NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh37 Chromosome 21, 35821913: 35821913
4 KCNE1 NM_000219.5(KCNE1): c.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh38 Chromosome 21, 34449615: 34449615
5 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
6 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh38 Chromosome 21, 34449409: 34449409
7 KCNE1 NM_000219.5(KCNE1): c.138C> A (p.Tyr46Ter) single nucleotide variant Pathogenic rs758346045 GRCh38 Chromosome 21, 34449497: 34449497
8 KCNE1 NM_000219.5(KCNE1): c.138C> A (p.Tyr46Ter) single nucleotide variant Pathogenic rs758346045 GRCh37 Chromosome 21, 35821795: 35821795
9 KCNE1 NM_000219.5(KCNE1): c.51G> A (p.Trp17Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 35821882: 35821882
10 KCNE1 NM_000219.5(KCNE1): c.51G> A (p.Trp17Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 34449584: 34449584
11 KCNE1 NM_000219.5(KCNE1): c.50G> A (p.Trp17Ter) single nucleotide variant Pathogenic rs779124360 GRCh38 Chromosome 21, 34449585: 34449585
12 KCNE1 NM_000219.5(KCNE1): c.50G> A (p.Trp17Ter) single nucleotide variant Pathogenic rs779124360 GRCh37 Chromosome 21, 35821883: 35821883

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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