MCID: JRV002
MIFTS: 21

Jervell and Lange-Nielsen Syndrome 2

Categories: Genetic diseases, Rare diseases, Ear diseases, Cardiovascular diseases, Fetal 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 autosomal recessive inheritance heterogeneous


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 syncope and sudden cardiac death

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:

57
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:

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

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
# 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

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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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