Details of Disease | DrugMAP

General Information of Disease (ID: DISRNNCY)

Disease Name	Familial long QT syndrome
Synonyms	LQTS; Long QT Syndrome; Ward-Romano syndrome; Romano-Ward long QT syndrome; familial long QT syndrome; hereditary long QT syndrome; congenital long QT syndrome; Romano-Ward syndrome
Definition	A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISMKWS3: Long QT syndrome DISRNNCY: Familial long QT syndrome
Disease Identifiers	MONDO ID MONDO_0019171 UMLS CUI C1141890 MedGen ID 685787 Orphanet ID 101016 SNOMED CT ID 442917000

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
KCNA5	TTW0CMT	Strong	Biomarker	[1]
KCNK3	TTGR91N	Strong	Biomarker	[1]
SCN5A	TTZOVE0	Strong	Biomarker	[2]
SCN5A	TTZOVE0	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN4B	OT3JSUWO	Limited	Biomarker	[4]
AKAP9	OT7Z2YRP	Strong	Biomarker	[5]
ATP2B4	OTMWFDAC	Strong	Genetic Variation	[6]
CAV3	OTWSFDB4	Strong	Genetic Variation	[7]
EDA	OTAKS5WS	Strong	Biomarker	[8]
GOLGA2	OT5S9KYM	Strong	Genetic Variation	[9]
HAND2	OTCXYW4Y	Strong	Biomarker	[8]
HGS	OTCYYCAC	Strong	Biomarker	[10]
KCNA4	OTTIGYN7	Strong	Biomarker	[1]
KCNE2	OTUO214Y	Strong	Biomarker	[11]
SRSF5	OTC5WP98	Strong	Biomarker	[10]
TRDN	OTXVE9SF	Strong	Autosomal recessive	[12]
CALM3	OTNYA92F	Definitive	Autosomal dominant	[13]
SCN5A	OTGYZWR6	Definitive	Autosomal dominant	[3]
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⏷ Show the Full List of 14 DOT(s)

References

1	Drug-induced torsades de pointes: the evolving role of pharmacogenetics.Heart Rhythm. 2005 Nov;2(2 Suppl):S30-7. doi: 10.1016/j.hrthm.2005.08.007.
2	Re-evaluatingpathogenicity of variants associated with the long QT syndrome.J Cardiovasc Electrophysiol. 2018 Jan;29(1):98-104. doi: 10.1111/jce.13355. Epub 2017 Nov 1.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation. 2007 Jul 10;116(2):134-42. doi: 10.1161/CIRCULATIONAHA.106.659086. Epub 2007 Jun 25.
5	AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2.
6	Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9355-60. doi: 10.1073/pnas.0801294105. Epub 2008 Jun 30.
7	Long QT syndrome caveolin-3 mutations differentially modulate K(v) 4 and Ca(v) 1.2 channels to contribute to action potential prolongation.J Physiol. 2019 Mar;597(6):1531-1551. doi: 10.1113/JP276014. Epub 2019 Jan 24.
8	Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease.Am J Physiol Heart Circ Physiol. 2003 Sep;285(3):H1286-93. doi: 10.1152/ajpheart.00276.2003. Epub 2003 May 29.
9	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.
10	Update of diagnosis and management of inherited cardiac arrhythmias.Circ J. 2013;77(12):2867-72. doi: 10.1253/circj.cj-13-1217. Epub 2013 Nov 7.
11	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.Ann Med. 2004;36 Suppl 1:53-63. doi: 10.1080/17431380410032689.
12	International Triadin Knockout Syndrome Registry. Circ Genom Precis Med. 2019 Feb;12(2):e002419. doi: 10.1161/CIRCGEN.118.002419.
13	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.