Details of Disease

General Information of Disease (ID: DISVWU3A)

• Disease Name: Jervell and Lange-Nielsen syndrome 1
• Synonyms: Cardioauditory syndrome of Jervell and Lange-Nielsen; prolonged QT interval in Ekg and sudden death; deafness, congenital, and functional heart disease; JLNS1; Surdo-Cardiac syndrome; Jervell and Lange-Nielsen syndrome; Jervell and Lange-Nielsen syndrome 1; KCNQ1 Jervell and Lange-Nielsen syndrome; Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1
• Definition: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
• Disease Hierarchy:
  DISGCX89: Jervell and Lange-Nielsen syndrome
  DISVWU3A: Jervell and Lange-Nielsen syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0024540
  MESH ID: D029593
  UMLS CUI: C4551509
  OMIM ID: 220400
  MedGen ID: 1646925

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	TT846HF	moderate	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	DTYE3RN	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNE1	OTZNQUW9	Strong	Biomarker	[3]
KCNQ1	OT8SPJNX	Definitive	Autosomal recessive	[2]

References

• [1] Emerging therapeutic targets in the short QT syndrome.Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] KCNE1 mutations cause jervell and Lange-Nielsen syndrome.Nat Genet. 1997 Nov;17(3):267-8. doi: 10.1038/ng1197-267.