Details of Disease

Disease Name

Brugada syndrome 1

sudden unexplained nocturnal death syndrome; Cardiac conduction defect, nonspecific; right bundle branch block, St segment elevation, and sudden death syndrome; Brugada syndrome type 1; BRGDA1; Brugada syndrome caused by mutation in SCN5A; Brugada syndrome 1; SCN5A Brugada syndrome

Definition

Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.

Disease Hierarchy

DISSGN0E: Brugada syndrome

DISKBA7V: Brugada syndrome 1

Disease Identifiers

MONDO ID

MONDO_0011001

MESH ID

D053840

UMLS CUI

C4551804

OMIM ID

601144

MedGen ID

1646402

General Information of Disease (ID: DISKBA7V)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D1	TTFK1JQ	Disputed	Autosomal dominant	[1]
CACNA2D1	TTFK1JQ	Disputed	Biomarker	[2]
HCN4	TTQP04A	Disputed	Autosomal dominant	[1]
HCN4	TTQP04A	Disputed	Biomarker	[3]
KCND3	TTPLQO0	Disputed	Autosomal dominant	[1]
KCND3	TTPLQO0	Disputed	Biomarker	[4]
SCN10A	TT90XZ8	Disputed	Autosomal dominant	[1]
SCN10A	TT90XZ8	Disputed	Biomarker	[5]
SCN5A	TTZOVE0	Definitive	Autosomal dominant	[6]
SCN5A	TTZOVE0	Definitive	Biomarker	[7]
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⏷ Show the Full List of 10 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNB2	DTBZWL4	Disputed	Autosomal dominant	[1]
CACNB2	DTBZWL4	Disputed	Biomarker	[8]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D1	OT5YLZIH	Disputed	Autosomal dominant	[1]
CACNB2	OT53K8W2	Disputed	Autosomal dominant	[1]
GPD1L	OTVLWW9T	Disputed	Autosomal dominant	[1]
HCN4	OTPH3RRX	Disputed	Autosomal dominant	[1]
KCND3	OTRPIH7J	Disputed	Autosomal dominant	[1]
KCNJ8	OTZ8G8FE	Disputed	Autosomal dominant	[1]
PKP2	OTJOVF68	Disputed	Autosomal dominant	[1]
SCN10A	OTPCGJAC	Disputed	Autosomal dominant	[1]
SCN1B	OTGD78J3	Disputed	Autosomal dominant	[1]
SCN2B	OTFAHJ38	Disputed	Autosomal dominant	[1]
SCN3B	OTNTQT9O	Disputed	Autosomal dominant	[1]
HEY2	OTU4J3ZI	moderate	Biomarker	[9]
ALPK3	OTLUYSMO	Strong	Autosomal dominant	[10]
SCN5A	OTGYZWR6	Definitive	Autosomal dominant	[6]
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⏷ Show the Full List of 14 DOT(s)

References

1	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.
2	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.
3	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.
4	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.
5	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.
6	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
7	Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels.JCI Insight. 2018 Sep 20;3(18):e96291. doi: 10.1172/jci.insight.96291. eCollection 2018 Sep 20.
8	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.
9	Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21.
10	Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424.