Details of Disease

General Information of Disease (ID: DIS75N4V)

Disease Name Jervell and Lange-Nielsen syndrome 2
Synonyms JLNS2; Jervell and Lange-Nielsen syndrome 2; Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1; KCNE1 Jervell and Lange-Nielsen syndrome; Jervell and Lange-Nielsen syndrome type 2
Definition Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
Disease Hierarchy
DISTN36Q: Long QT syndrome 5
DISGCX89: Jervell and Lange-Nielsen syndrome
DIS75N4V: Jervell and Lange-Nielsen syndrome 2
Disease Identifiers
MONDO ID
MONDO_0012871
MESH ID
C567343
UMLS CUI
C2676723
OMIM ID
612347
MedGen ID
394108

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNE1 OTZNQUW9 Strong Autosomal recessive [1]
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References

1 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.