Details of Disease

General Information of Disease (ID: DIST7UL9)

Disease Name Short QT syndrome type 3
Synonyms SQT3; short QT syndrome 3; KCNJ2 short QT syndrome; short QT syndrome caused by mutation in KCNJ2; short QT syndrome type 3
Definition Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.
Disease Hierarchy
DISOI9X1: Short QT syndrome
DIST7UL9: Short QT syndrome type 3
Disease Identifiers
MONDO ID
MONDO_0012314
MESH ID
C566504
UMLS CUI
C1865018
OMIM ID
609622
MedGen ID
400662

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNH2 TTQ6VDM Strong Biomarker [1]
KCNJ2 TTH7UO3 Strong Autosomal dominant [2]
KCNJ2 TTH7UO3 Strong CausalMutation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNJ2 OT2OQEZS Strong Autosomal dominant [2]
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References

1 Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia.Mol Cell Biol. 2003 Mar;23(6):1856-62. doi: 10.1128/MCB.23.6.1856-1862.2003.
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 Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.Int Heart J. 2017 Feb 7;58(1):81-87. doi: 10.1536/ihj.16-133. Epub 2016 Dec 21.