Details of Disease

General Information of Disease (ID: DISEKEM0)

Disease Name Short QT syndrome type 1
Synonyms SQT1; short QT syndrome 1; SQTS; short QT syndrome type 1; KCNH2 short QT syndrome; short QT syndrome caused by mutation in KCNH2
Definition Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.
Disease Hierarchy
DISOI9X1: Short QT syndrome
DISEKEM0: Short QT syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0012312
MESH ID
C566506
UMLS CUI
C1865020
OMIM ID
609620
MedGen ID
355891

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA2D1 TTFK1JQ Strong GermlineCausalMutation [1]
KCNJ2 TTH7UO3 Strong GermlineCausalMutation [2]
KCNQ1 TT846HF Strong GermlineCausalMutation [3]
KCNH2 TTQ6VDM Definitive Biomarker [4]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNH2 DTD0BMQ Definitive Autosomal dominant [5]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNH2 OTZX881H Definitive Autosomal dominant [5]
------------------------------------------------------------------------------------

References

1 Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.
2 A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005 Apr 15;96(7):800-7. doi: 10.1161/01.RES.0000162101.76263.8c. Epub 2005 Mar 10.
3 Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.J Geriatr Cardiol. 2015 Jul;12(4):394-401. doi: 10.11909/j.issn.1671-5411.2015.04.002.
4 Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. J Am Heart Assoc. 2018 Mar 24;7(7):e007394. doi: 10.1161/JAHA.117.007394.
5 Sudden cardiac arrest during marathon training in a young adult with short QT syndrome. Int J Cardiol Heart Vasc. 2017 Nov 22;18:101-103. doi: 10.1016/j.ijcha.2017.11.002. eCollection 2018 Mar.