Details of Disease

General Information of Disease (ID: DISXC8UD)

Disease Name Long QT syndrome 13
Synonyms long QT syndrome caused by mutation in KCNJ5; LQT13; KCNJ5 long QT syndrome; long QT syndrome 13; long QT syndrome type 13
Definition Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISXC8UD: Long QT syndrome 13
Disease Identifiers
MONDO ID
MONDO_0013279
UMLS CUI
C3150733
OMIM ID
613485
MedGen ID
462083

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNJ5 TTEO25X Limited Autosomal dominant [1]
KCNJ5 TTEO25X Limited Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNJ5 OTA2MBIE Limited 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.
2 Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet. 2010 Jun 11;86(6):872-80. doi: 10.1016/j.ajhg.2010.04.017.