Details of Disease | DrugMAP

General Information of Disease (ID: DISTN36Q)

Disease Name	Long QT syndrome 5
Synonyms	long QT syndrome 2/5, digenic; long QT syndrome 5, acquired, susceptibility to; long QT syndrome type 5; long QT syndrome caused by mutation in KCNE1; LQT5; long QT syndrome 5; KCNE1 long QT syndrome
Definition	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
Disease Hierarchy	DISRNNCY: Familial long QT syndrome DISTN36Q: Long QT syndrome 5
Disease Identifiers	MONDO ID MONDO_0013372 UMLS CUI C1867904 OMIM ID 613695 MedGen ID 358092

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	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.