Details of Disease

General Information of Disease (ID: DISGCX89)

Disease Name Jervell and Lange-Nielsen syndrome
Synonyms
prolonged QT interval in EKG and sudden death; deafness, congenital, and functional heart disease; Surdo-cardiac syndrome; Jervell and Lange-Nielsen syndrome type 1; Jervell and Lange-Nielsen syndrome 1; JLNS1; Cardioauditory syndrome of Jervell and Lange-Nielsen; long QT interval-deafness syndrome; Jervell-Lange Nielsen syndrome; Jervell and Lange-Nielson syndrome; Jervell and Lange Nielsen syndrome; Jervell Lange-Nielsen syndrome
Definition An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISGCX89: Jervell and Lange-Nielsen syndrome
Disease Identifiers
MONDO ID
MONDO_0002441
MESH ID
D029593
UMLS CUI
C0022387
MedGen ID
5929
Orphanet ID
90647
SNOMED CT ID
373905003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNQ4 TT8HGRW Limited Genetic Variation [1]
KCNH2 TTQ6VDM Definitive Biomarker [2]
KCNQ1 TT846HF Definitive Genetic Variation [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNQ1 DTYE3RN Definitive Autosomal recessive [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNE1 OTZNQUW9 Limited Biomarker [3]
KCNE2 OTUO214Y Limited Biomarker [5]
KCNQ1 OT8SPJNX Definitive Autosomal recessive [4]
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References

1 Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes.Cell Physiol Biochem. 2006;18(1-3):57-66. doi: 10.1159/000095158. Epub 2006 Aug 15.
2 Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction.Circulation. 2010 Oct 5;122(14):1355-63. doi: 10.1161/CIRCULATIONAHA.110.960377. Epub 2010 Sep 20.
3 Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.