Details of Disease

General Information of Disease (ID: DISED5HG)

• Disease Name: Conduction system disorder
• Synonyms: conducting system of heart disease or disorder; disease or disorder of conducting system of heart; disease of conducting system of heart; conducting system of heart disease; disorder of conducting system of heart
• Definition: A disease involving the conducting system of heart.
• Disease Hierarchy:
  DISRYD6K: Myocardial disease
  DISWD40R: Disease
  DISXAP3G: Muscle tissue disorder
  DISED5HG: Conduction system disorder
• Disease Identifiers:
  MONDO ID: MONDO_0005449
  MESH ID: C567557
  UMLS CUI: C2748542
  MedGen ID: 412576

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
CACNA2D1	TTFK1JQ	Disputed	Biomarker	[1]
HCN4	TTQP04A	Disputed	Biomarker	[2]
KCND3	TTPLQO0	Disputed	Biomarker	[3]
SCN10A	TT90XZ8	Disputed	Biomarker	[4]
SCN5A	TTZOVE0	Strong	Biomarker	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNB2	DTBZWL4	Disputed	Biomarker	[6]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPD1L	OTVLWW9T	Disputed	Biomarker	[7]
KCNJ8	OTZ8G8FE	Disputed	Biomarker	[8]
PKP2	OTJOVF68	Disputed	Biomarker	[9]
SCN1B	OTGD78J3	Disputed	Biomarker	[10]
SCN2B	OTFAHJ38	Disputed	Biomarker	[11]
SCN3B	OTNTQT9O	Disputed	Biomarker	[12]

References

• [1] Functional characterization of CaV2 mutations associated with sudden cardiac death.J Biol Chem. 2015 Jan 30;290(5):2854-69. doi: 10.1074/jbc.M114.597930. Epub 2014 Dec 19.
• [2] Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.Pflugers Arch. 2016 Oct;468(10):1663-71. doi: 10.1007/s00424-016-1870-1. Epub 2016 Aug 23.
• [3] Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function.Int J Mol Med. 2015 Jul;36(1):309-15. doi: 10.3892/ijmm.2015.2223. Epub 2015 May 26.
• [4] Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.Int J Legal Med. 2017 Jan;131(1):53-60. doi: 10.1007/s00414-016-1397-1. Epub 2016 Jun 7.
• [5] Spatial and temporal heterogeneities are localized to the right ventricular outflow tract in a heterozygotic Scn5a mouse model.Am J Physiol Heart Circ Physiol. 2011 Feb;300(2):H605-16. doi: 10.1152/ajpheart.00824.2010. Epub 2010 Nov 19.
• [6] Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.Circulation. 2012 Jan 3;125(1):14-22. doi: 10.1161/CIRCULATIONAHA.111.054007. Epub 2011 Nov 16.
• [7] GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. doi: 10.1152/ajpheart.00513.2009. Epub 2009 Aug 7.
• [8] Role of ATP-sensitive K+ channels in cardiac arrhythmias.J Cardiovasc Pharmacol Ther. 2014 May;19(3):237-43. doi: 10.1177/1074248413515078. Epub 2013 Dec 23.
• [9] Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes.Circ Arrhythm Electrophysiol. 2015 Apr;8(2):505-7. doi: 10.1161/CIRCEP.114.002342.
• [10] Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation.J Arrhythm. 2017 Feb;33(1):35-39. doi: 10.1016/j.joa.2016.05.007. Epub 2016 Jul 2.
• [11] Scn2b Deletion in Mice Results in Ventricular and Atrial Arrhythmias.Circ Arrhythm Electrophysiol. 2016 Dec;9(12):e003923. doi: 10.1161/CIRCEP.116.003923.
• [12] Embryonic type Na(+) channel -subunit, SCN3B masks the disease phenotype of Brugada syndrome.Sci Rep. 2016 Sep 28;6:34198. doi: 10.1038/srep34198.