Details of Disease

General Information of Disease (ID: DISHGLMM)

• Disease Name: Short QT syndrome type 2
• Synonyms: SQT2; short QT syndrome 2; KCNQ1 short QT syndrome; short QT syndrome type 2; short QT syndrome caused by mutation in KCNQ1
• Definition: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
• Disease Hierarchy:
  DISOI9X1: Short QT syndrome
  DISHGLMM: Short QT syndrome type 2
• Disease Identifiers:
  MONDO ID: MONDO_0012313
  MESH ID: C566505
  UMLS CUI: C1865019
  OMIM ID: 609621
  MedGen ID: 355890

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	TT846HF	Limited	Biomarker	[1]
KCNH2	TTQ6VDM	Strong	Biomarker	[2]
KCNJ2	TTH7UO3	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	DTYE3RN	Strong	Autosomal dominant	[4]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	OT8SPJNX	Strong	Autosomal dominant	[4]

References

• [1] Emerging therapeutic targets in the short QT syndrome.Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621.
• [2] 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.
• [3] Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.Cardiol J. 2013;20(5):464-71. doi: 10.5603/CJ.a2013.0052. Epub 2013 May 15.
• [4] Structural interplay of K(V)7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (K(V)7.1-A287T). HeartRhythm Case Rep. 2016 Sep 12;2(6):521-529. doi: 10.1016/j.hrcr.2016.08.015. eCollection 2016 Nov.