Details of Disease

General Information of Disease (ID: DISXK5OU)

• Disease Name: Long QT syndrome 1
• Synonyms: long QT syndrome 1/2, digenic; long QT syndrome 1, acquired, susceptibility to; long QT syndrome 1; ventricular fibrillation with prolonged QT interval; long QT syndrome type 1; LQT1
• Disease Hierarchy:
  DISRNNCY: Familial long QT syndrome
  DISXK5OU: Long QT syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0100316
  MESH ID: D029597
  UMLS CUI: C4551647
  OMIM ID: 192500
  MedGen ID: 1641146
  SNOMED CT ID: 20852007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNH2	TTQ6VDM	Limited	Genetic Variation	[1]
KCNQ4	TT8HGRW	Limited	Genetic Variation	[2]
SCN5A	TTZOVE0	Limited	Biomarker	[3]
KCNA5	TTW0CMT	Strong	Genetic Variation	[4]
KCNK3	TTGR91N	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	DTYE3RN	Definitive	Autosomal dominant	[6]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSP	OTB2MOP8	moderate	CausalMutation	[7]
IER3IP1	OTCYSU28	Strong	Genetic Variation	[8]
KCNA4	OTTIGYN7	Strong	Genetic Variation	[5]
KCNE1	OTZNQUW9	Strong	Genetic Variation	[9]
NOS1AP	OTDFOBRU	Strong	Genetic Variation	[10]
POLR3A	OT5MSK10	Strong	Genetic Variation	[11]
KCNE2	OTUO214Y	Definitive	Genetic Variation	[12]
KCNQ1	OT8SPJNX	Definitive	Autosomal dominant	[6]

References

• [1] Comparison of automated interval measurements by widely used algorithms in digital electrocardiographs.Am Heart J. 2018 Jun;200:1-10. doi: 10.1016/j.ahj.2018.02.014. Epub 2018 Feb 26.
• [2] Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes.Cell Physiol Biochem. 2006;18(1-3):57-66. doi: 10.1159/000095158. Epub 2006 Aug 15.
• [3] Heart rate dependence of the QT interval duration: differences among congenital long QT syndrome subtypes.J Cardiovasc Electrophysiol. 2004 May;15(5):550-6. doi: 10.1046/j.1540-8167.2004.03096.x.
• [4] Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.Pediatr Cardiol. 2011 Jan;32(1):102-4. doi: 10.1007/s00246-010-9821-7. Epub 2010 Oct 28.
• [5] A recessive variant of the Romano-Ward long-QT syndrome?.Circulation. 1998 Jun 23;97(24):2420-5. doi: 10.1161/01.cir.97.24.2420.
• [6] KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. Am J Med Genet A. 2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4.
• [7] Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
• [8] A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18.
• [9] Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12.
• [10] Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.Stem Cell Res. 2019 Apr;36:101416. doi: 10.1016/j.scr.2019.101416. Epub 2019 Mar 6.
• [11] Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.
• [12] Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.