Details of Disease

General Information of Disease (ID: DISQQFTJ)

Disease Name Long QT syndrome 2
Synonyms
long QT syndrome 2, acquired, susceptibility to; long QT syndrome 2/3, digenic; long QT syndrome 2/9, digenic; long QT syndrome 1/2, digenic; long QT syndrome 2/5, digenic; Long QT syndrome, acquired, reduced susceptibility to; long QT syndrome 2; long QT syndrome type 2; LQT2
Definition
An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISQQFTJ: Long QT syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013367
MESH ID
C563614
UMLS CUI
C3150943
OMIM ID
613688
MedGen ID
462293

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNH2 DTD0BMQ Definitive Autosomal dominant [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALG10B OTAHWAKE Limited Unknown [2]
GOLGA2 OT5S9KYM Strong Genetic Variation [3]
RAB11B OT6GI23M Strong Biomarker [4]
KCNH2 OTZX881H 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.
2 Beh?et's disease. An update based on the 1985 International Conference in London. Arch Dermatol. 1986 May;122(5):556-8. doi: 10.1001/archderm.122.5.556.
3 Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether--go-go-Related Gene.J Biol Chem. 2002 Dec 6;277(49):47779-85. doi: 10.1074/jbc.M206638200. Epub 2002 Sep 20.
4 Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.Am J Physiol Cell Physiol. 2013 Nov 1;305(9):C919-30. doi: 10.1152/ajpcell.00406.2012. Epub 2013 Jul 17.