MCID: JRV002
MIFTS: 22

Jervell and Lange-Nielsen Syndrome 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases, Ear 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 53 49 71 28 13 69
Jlns2 53 49 71
Cardioauditory Syndrome of Jervell and Lange-Nielsen 71
Congenital Deafness and Functional Heart Disease 71
Prolonged Qt Interval in Ekg and Sudden Death 71
Jervell-Lange Nielsen Syndrome 69
Long Qt Interval-Deafness 71
Surdo-Cardiac Syndrome 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



Summaries for Jervell and Lange-Nielsen Syndrome 2

UniProtKB/Swiss-Prot : 71 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, sudden cardiac death and sensorineural hearing impairment. 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.

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 11.9

Symptoms & Phenotypes for Jervell and Lange-Nielsen Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
congenital sensorineural hearing loss

Cardiovascular Heart:
prolonged qt interval on ekg
syncope
torsades de pointes
sudden cardiac death


Clinical features from OMIM:

612347

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 sudden cardiac death 31 HP:0001645
3 sensorineural hearing impairment 31 HP:0000407
4 prolonged qt interval 31 HP:0001657
5 congenital sensorineural hearing impairment 31 HP:0008527
6 torsade de pointes 31 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 28 KCNE1

Anatomical Context for Jervell and Lange-Nielsen Syndrome 2

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

38
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:

71
# 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
# 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.20C> T (p.Thr7Ile) single nucleotide variant Pathogenic rs28933384 GRCh37 Chromosome 21, 35821913: 35821913
3 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Pathogenic/Likely pathogenic rs74315445 GRCh37 Chromosome 21, 35821707: 35821707

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....