MCID: BRG001
MIFTS: 59

Brugada Syndrome malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Brugada Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Brugada Syndrome:

Name: Brugada Syndrome 11 23 47 24 25 53 26 49 38 13 67
Sudden Unexpected Nocturnal Death Syndrome 23 47 24 25 67
Idiopathic Ventricular Fibrillation, Brugada Type 25 53
Sudden Unexplained Nocturnal Death Syndrome 53 67
Sudden Unexplained Death Syndrome 25 26
Pokkuri Death Syndrome 25 53
 
Bangungut 25 53
Sunds 25 53
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 47
Dream Disease 53
Suds 25

Characteristics:

Orphanet epidemiological data:

53
brugada syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult

GeneReviews:

23
Penetrance: among individuals with an scn5a pathogenic variant:...


Classifications:



External Ids:

Disease Ontology11 DOID:0050451
ICD1029 I49.8
MeSH38 D053840
NCIt44 C71059
SNOMED-CT61 418818005
Orphanet53 ORPHA130
MESH via Orphanet39 D053840
UMLS via Orphanet68 C1142166
ICD10 via Orphanet30 I49.8
UMLS67 C1142166, C1721096, C1955837

Summaries for Brugada Syndrome

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Genetics Home Reference:25 Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.

MalaCards based summary: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 1 and brugada syndrome 3. An important gene associated with Brugada Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways are Netrin Signaling and Fc-GammaR Pathway. Affiliated tissues include heart, testes and skin, and related mouse phenotypes are muscle and cardiovascular system.

Disease Ontology:11 A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.

Wikipedia:70 Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

GeneReviews for NBK1517

Related Diseases for Brugada Syndrome

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Diseases in the Brugada Syndrome family:

Brugada Syndrome 9 Brugada Syndrome 2
Brugada Syndrome 1 Brugada Syndrome 4
Brugada Syndrome 6 Brugada Syndrome 7
Brugada Syndrome 3 Brugada Syndrome 8
Brugada Syndrome 5 Scn5a-Related Brugada Syndrome

Diseases related to Brugada Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 134.1CACNA1C, KCNE3, KCNH2, SCN5A
2brugada syndrome 334.0CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNQ1
3brugada syndrome 233.8GPD1L, SCN5A
4sudden infant death syndrome29.6GPD1L, KCNH2, KCNJ8, KCNQ1, SCN1B, SCN2B
5brugada syndrome 412.2
6brugada syndrome 712.2
7brugada syndrome 612.2
8brugada syndrome 812.2
9brugada syndrome 512.2
10brugada syndrome 912.1
11scn5a-related brugada syndrome11.7
12lipomyelomeningocele10.6SCN1B, SCN5A, TRPM4
13ventricular fibrillation, familial, 110.6CACNA1C, SCN5A
14bird fancier's lung10.5HCN4, RANGRF, SCN5A
15todd's paralysis10.5KCNH2, KCNQ1, SCN5A
16acute tricyclic antidepressant poisoning10.5CACNA2D1, KCNH2, KCNQ1
17benign infantile seizures associated to mild gastroenteritis10.5HCN4, SCN5A
18microcephaly-polymicrogyria-corpus callosum agenesis syndrome10.5CACNA1C, KCNH2, KCNQ1, SCN5A
19sult4a1-related altered drug metabolism10.5KCNH2, KCNQ1, SCN5A
20atrial fibrillation, familial, 310.5CACNA1C, KCNH2, KCNQ1, SCN5A
21jervell and lange-nielsen syndrome10.5KCNH2, KCNQ1, SCN5A
22camurati-engelmann disease10.5SCN1B, SCN5A
23second-degree atrioventricular block10.5HCN4, KCNH2, KCNQ1, SCN5A
24cardiac conduction disease with or without dilated cardiomyopathy10.4KCNH2, KCNQ1
25prostate malignant phyllodes tumor10.4HCN4, KCND3, KCNH2, KCNQ1, SCN5A
26adams-oliver syndrome10.3HCN4, KCNQ1, SCN1B, SCN2B, SCN3B, SCN5A
27atrial fibrillation10.2
28right bundle branch block10.2
29cone dystrophy10.2CACNA1C, CACNA2D1, CACNB2, KCND3, KCNH2, KCNQ1
30syncope10.2
31melancholia10.1CACNA1C, HCN4, KCND3, KCNE3, KCNH2, KCNQ1
32cardiomyopathy10.1
33heart disease10.0
34submucous uterine fibroid10.0CACNA1C, CACNB2, GPD1L, HCN4, KCND3, SCN1B
35wolff-parkinson-white syndrome10.0
36cardiac arrest10.0
37catecholaminergic polymorphic ventricular tachycardia10.0
38sick sinus syndrome10.0
39hypokalemia10.0
40arrhythmogenic right ventricular cardiomyopathy9.9
41epilepsy9.9
42cardiac conduction defect9.8
43short qt syndrome9.8
44ischemia9.8
45sudden cardiac death9.8
46autonomic dysfunction9.8
47coronary artery disease9.8
48artery disease9.8
49left ventricular noncompaction9.8
50pericarditis9.8

Graphical network of the top 20 diseases related to Brugada Syndrome:



Diseases related to brugada syndrome

Symptoms for Brugada Syndrome

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Drugs & Therapeutics for Brugada Syndrome

About this section

Drugs for Brugada Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProcainamideapprovedPhase 41251-06-94913
Synonyms:
2-Diethylaminoethylamid kyseliny p-aminobenzoove
2-Diethylaminoethylamid kyseliny p-aminobenzoove [Czech]
4-14-00-01154 (Beilstein Handbook Reference)
4-Amino-N-(2-(Diethylamino)Ethyl)Benzamide Sulfate
4-Amino-N-(2-(diethylamino)ethyl)benzamide
4-Amino-N-[2-(diethylamino)ethyl]benzamide
4-amino-N-(2-diethylaminoethyl)-benzamide
4-amino-N-(2-diethylaminoethyl)benzamide
51-06-9
614-39-1 (hydrochloride)
AB00053530
AC1L1J8A
AC1Q2ZC8
AC1Q2ZC9
AC1Q2ZCA
AKOS000271131
ARONIS023727
BIDD:GT0579
BPBio1_000411
BRD-K75089421-001-02-5
BRD-K75089421-003-04-7
BRD-K75089421-003-05-4
BRN 2214285
BSPBio_000373
BSPBio_001463
BSPBio_002229
Benzamide, 4-amino-N-(2-(diethylamino)ethyl)- (9CI)
Bio1_000391
Bio1_000880
Bio1_001369
Bio2_000183
Bio2_000663
Biocoryl
C07401
C13H21N3O
CAS-614-39-1
CBDivE_003757
CHEBI:8428
CHEMBL640
CID4913
D08421
DB01035
DivK1c_000931
EINECS 200-078-8
HMS1361J05
HMS1791J05
HMS1989J05
HMS2089E13
HMS553P13
HSDB 3170
IDI1_000931
IDI1_033933
KBio1_000931
KBio2_000183
KBio2_001316
KBio2_002751
KBio2_003884
KBio2_005319
KBio2_006452
KBio3_000365
 
KBio3_000366
KBio3_001729
KBioGR_000183
KBioGR_000973
KBioSS_000183
KBioSS_001316
L001052
LS-25492
Lopac-P-9391
Lopac0_000995
Maybridge1_004389
MolPort-001-783-481
NCGC00015859-01
NCGC00015859-02
NCGC00015859-03
NCGC00015859-10
NCGC00024323-03
NCGC00024323-04
NCGC00024323-05
NCGC00024323-06
NINDS_000931
NSC 27461
NSC27461
Novocainamid
Novocainamide
Novocaine amide
Novocamid
PROCAINAMIDE
Prestwick0_000337
Prestwick1_000337
Prestwick2_000337
Prestwick3_000337
Procainamida
Procainamida [INN-Spanish]
Procainamide
Procainamide (INN)
Procainamide [INN:BAN]
Procainamidum
Procainamidum [INN-Latin]
Procaine amide
Procamide
Procan
Procanbid
Procapan
Procapan (free base)
Pronestyl
Pronestyl-Sr
SMP1_000055
SPBio_001329
SPBio_002294
ST077772
STK367963
Spectrum2_001295
Spectrum3_000555
Spectrum4_000487
Spectrum5_000986
Spectrum_000836
UNII-L39WTC366D
WLN: ZR DVM2N2&2
p-Amino-N-(2-diethylaminoethyl)benzamide
p-Aminobenzoic diethylaminoethylamide
2
Ajmalineapproved, NutraceuticalPhase 4, Phase 244360-12-7441080
Synonyms:
(+)-Ajmaline
 
(5AR,6S,8S,10S,11S,11as,12ar,13R)-5-methyl-5a,6,8,9,10,11,11a,12-octahydro-5H-6,10:11,12a-dimethanoindolo[3,2-b]quinolizine-8,13-diol
Ajmalin
3Sodium Channel BlockersPhase 4, Phase 2, Phase 3, Phase 11515
4LorajminePhase 4, Phase 24
5Anti-Arrhythmia AgentsPhase 4, Phase 2, Phase 3, Phase 12969
6Diuretics, Potassium SparingPhase 4, Phase 2, Phase 3, Phase 11827
7
4-AminopyridineapprovedPhase 368504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
8
QuinidineapprovedPhase 2, Phase 34456-54-2441074
Synonyms:
(+)-quinidine
(-)-Quinine
(8R,9S)-Quinidine
(R)-(6-Methoxyquinolin-4-yl)((3S,4R,7S)-3-vinylquinuclidin-7-yl)methanol
(S)-(6-Methoxy-quinolin-4-yl)-((2R,5R)-5-vinyl-1-aza-bicyclo[2.2.2]oct-2-yl)-methanol
(S)-(6-Methoxyquinolin-4-yl)((2R,5R)-5-vinylquinuclidin-2-yl)methanol
11010-73-4
12239-42-8
128544-03-6
130-89-2
130-95-0
1407-83-6
21480-31-9
22600_FLUKA
22620_FLUKA
22620_SIGMA
50-54-4
500225-45-6
549-56-4
55980-20-6
56-54-2
572-59-8
6-Methoxy-alpha-(5-vinyl-2-quinuclidinyl)-4-quinolinemethanol
6119-70-6
6151-39-9
6151-40-2
6183-68-2
6591-63-5
6912-57-8
72646-90-3
767303-40-2
804-63-7
840482-04-4
845886-64-8
857212-53-4
864908-93-0
875538-34-4
882741-47-1
883881-01-4
888714-03-2
890027-24-4
894767-09-0
898813-59-7
898814-00-1
898814-28-3
899813-83-3
900786-66-5
900789-95-9
906550-97-8
909263-47-4
909767-48-2
909882-78-6
910878-25-0
910880-97-6
910899-51-3
911445-75-5
918778-04-8
AB00514657
AC1L199L
AC1L1ANE
AC1L1LHL
AC1L1R7Y
AC1L3RNZ
AC1L9AHT
AC1L9AHW
AC1LCUGN
AC1LDI43
AC1LDI46
AC1MBNAI
AC1MHDEF
AC1MHUCH
AC1MHWS7
AC1MI1Q5
AC1NSV55
AC1NSV58
AC1NSZYR
AC1NSZYU
AC1NUNML
AC1NUNMO
AC1NX8JM
AC1O56R7
AC1O7EE0
AC1O7GNZ
AC1OAH7Z
AC1OCD5W
AC1OCD62
AC1OFCPL
AC1Q4EZ5
AC1Q4EZ6
AC1Q58AF
AR-1A4833
AR-1H2065
Aflukin
Apo-Quinidine
Auriquin
BB_NC-0697
BIB1110
BIDD:GT0144
Biquin Durules
C06526
C06527
C20H24N2O2
CCRIS 5755
CCRIS 672
CHEBI:111177
CHEBI:15854
CHEBI:28593
CHEMBL170
CHEMBL21578
CHEMBL576997
CHEMBL601807
CHEMBL97
CID10448938
CID1065
CID25522
CID2728270
CID3000825
CID3032576
CID3034034
CID3036746
CID441073
CID441074
CID5317111
CID5317112
CID5320867
CID5320868
 
CID5484444
CID5484450
CID5748152
CID5953
CID637552
CID6453100
CID6602154
CID6604605
CID667448
CID667449
CID6857801
CID6916033
CID6916036
CID7048767
CID8549
CID94175
CID9967055
CIN-QUIN
CPD000857275
Cardioquin
Chinidin
Chinidine
Chinidinum
Chinin
Chinine
Cin-Quin
Coccinine
Coco-Quinine
Conchinin
Conchinine
Conquinine
D08458
D08460
DB00468
DB00908
Duraquin
Epiquinidine
FT-0082277
GNF-PF-5459
GNF-Pf-180
GNF-Pf-5423
HMS1304I22
HMS1607A11
HMS1989J09
HMS2089E05
HSDB 225
HSDB 2501
I14-3348
I14-3397
IBS-L0034250
IDI1_000134
KBio1_000134
KBio2_001392
KBio2_003960
KBio2_006528
KBio3_001551
KST-1A1085
Kinidin
Kinidin (TN)
L001278
LS-141252
LS-187236
LS-194958
LS-221
LS-4562
LT00645788
Lopac-Q-0875
Lopac-Q-1250
MLS001304041
MLS001335913
MLS001335914
NCI-C56246
NCI60_004320
NINDS_000134
NSC 192949
NSC 5362
NSC131458
NSC192949
NSC5362
NSC667852
Novoquinidin
OR28880
Pitayin
Pitayine
Q0006
Q3625_SIGMA
Quin-Release
Quinact
Quinaglute
Quinaglute Dura-Tabs
Quinalan
Quinate
Quinatime
Quindan
Quindine
Quinicardine
Quinidex
Quinidex Extentabs
Quinidina
Quinidine
Quinidine Gluconate
Quinidine Sulfate
Quiniduran
Quinimax
Quinine
Quinine Dab
Quinora
Quniacridine
RH01857
SAM002264644
SB01652
SMP1_000254
SMR000718748
SMR000857275
SPBio_001375
SPBio_002379
ST056282
TCMDC-131239
TNP00086
alpha-(6-Methoxy-4-quinolyl)-5-vinyl-2-quinuclidinemethanol
beta-Quinine
bmse000511
chinidinum
chininum
quinidina
quinidine
quinina
╬▓-quinine
9Potassium Channel BlockersPhase 3176
103,4-diaminopyridinePhase 319
11Cytochrome P-450 Enzyme InhibitorsPhase 2, Phase 33822
12Cytochrome P-450 CYP2D6 InhibitorsPhase 2, Phase 3716
13HydroquinidinePhase 2, Phase 32
14Muscarinic AntagonistsPhase 2, Phase 31134
15Cholinergic AntagonistsPhase 2, Phase 31658
16Neurotransmitter AgentsPhase 2, Phase 317734
17Quinidine gluconatePhase 2, Phase 344
18Antiparasitic AgentsPhase 2, Phase 32127
19Cholinergic AgentsPhase 2, Phase 33846
20Adrenergic AgentsPhase 2, Phase 35140
21Adrenergic AntagonistsPhase 2, Phase 31535
22Adrenergic alpha-AntagonistsPhase 2, Phase 3727
23Anti-Infective AgentsPhase 2, Phase 321402
24Antiprotozoal AgentsPhase 2, Phase 31986
25AntimalarialsPhase 2, Phase 31216
26Peripheral Nervous System AgentsPhase 322776
27Autonomic AgentsPhase 39774
28ParasympatholyticsPhase 31050
29Anesthetics9001

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Ajmaline Utilization in the Diagnosis and Treatment of Cardiac ArrhythmiasCompletedNCT00702117Phase 4
2DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada SyndromeUnknown statusNCT00701077Phase 3
3Empiric Quinidine for Asymptomatic Brugada SyndromeRecruitingNCT00789165Phase 2, Phase 3
4Efficacy of Transcatheter Ablation Using Anatomic Approach of Ganglionated Plexi Located in the Right Atrium to Prevent Neuromediated Cardioinhibitory SyncopeRecruitingNCT01814228Phase 3
5Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
6Hydroquinidine Versus Placebo in Patients With Brugada SyndromeTerminatedNCT00927732Phase 3
7Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
8The Response To Ajmaline Provocation in Healthy SubjectsNot yet recruitingNCT02933437Phase 2
9Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesUnknown statusNCT00221832
10AnalyST & Brugada Syndrome - Feasibility StudyCompletedNCT02052765
11Epicardial Ablation in Brugada SyndromeCompletedNCT02641431
12Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada PatientsRecruitingNCT02344277
13Worm Study: Modifier Genes in Sudden Cardiac DeathRecruitingNCT02014961
14Genetic Markers of Cardiovascular Disease in EpilepsyRecruitingNCT02824822
15Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart MuscleActive, not recruitingNCT01865981
16Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
17Ablation in Brugada Syndrome for the Prevention of VFNot yet recruitingNCT02704416

Search NIH Clinical Center for Brugada Syndrome


Cochrane evidence based reviews: brugada syndrome

Genetic Tests for Brugada Syndrome

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Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome26 24 SCN5A
2 Sudden Unexplained Death26

Anatomical Context for Brugada Syndrome

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MalaCards organs/tissues related to Brugada Syndrome:

35
Heart, Testes, Skin, Eye, Myeloid, Brain, Skeletal muscle

Animal Models for Brugada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brugada Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.3CACNA1C, CACNA2D1, HCN4, KCNH2, KCNQ1, PKP2
2MP:00053859.5CACNA1C, CACNA2D1, CACNB2, HCN4, KCND3, KCNE3
3MP:00036319.1ANK3, CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3

Publications for Brugada Syndrome

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Articles related to Brugada Syndrome:

(show top 50)    (show all 737)
idTitleAuthorsYear
1
Search for Evidence-Based Medicine for Brugada Syndrome. (27150695)
2016
2
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. (26036855)
2016
3
Prevalence and Clinical Impact of Early Repolarization Pattern and QRS-Fragmentation in High-Risk Patients With Brugada Syndrome. (27558008)
2016
4
Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient. (25678966)
2015
5
Management of Brugada Syndrome: A 33-Year Experience Using Electrophysiologically-Guided Therapy with Class 1A Antiarrhythmic Drugs. (26354972)
2015
6
VERP in Brugada syndrome - Very effective risk predictor? (25731832)
2015
7
Enhanced Classification of Brugada Syndrome- and Long QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel. (25904541)
2015
8
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter. (24903439)
2015
9
Right coronary cusp as a new window of ablation for pilsicainide-induced ventricular premature contractions in a patient with Brugada syndrome. (26510553)
2015
10
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
11
Brugada Syndrome: A Heterogeneous Disease with a Common Ecg Phenotype? (24405173)
2014
12
Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. (23503384)
2013
13
Role of mutations in L-type calcium channel genes in Brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block. (23739544)
2013
14
Brugada burden in Brugada syndrome: the way to go in risk stratification? (23583498)
2013
15
Ventricular fibrillation with a 2:1 conduction block over the right ventricle in a Brugada syndrome patient. (24065342)
2013
16
The Brugada syndrome revisited. (24332084)
2013
17
Prognostic value of programmed ventricular stimulation in Brugada syndrome according to clinical presentation: an updated meta-analysis of worldwide published data. (23642819)
2013
18
Brugada syndrome 2012. (22789973)
2012
19
Use of implantable loop recorders in patients with Brugada syndrome and suspected risk of ventricular arrhythmia. (21979995)
2012
20
Insights into the location of type I ECG in patients with Brugada syndrome: correlation of ECG and cardiovascular magnetic resonance imaging. (22119454)
2012
21
Late perforation of the ventricular ICD lead causes a pericarditis like ECG in a patient with Brugada syndrome. (22370366)
2012
22
Effect of sodium-channel blockade on early repolarization in inferior/lateral leads in patients with idiopathic ventricular fibrillation and Brugada syndrome. (21855521)
2012
23
Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations. (22529811)
2012
24
An atypical case of Brugada syndrome. (22008499)
2011
25
Does a Brugada pattern ECG precipitated by excessive-dose flecainide provide a diagnosis of a Brugada syndrome patient and/or contraindicate its use? A case study. (21846883)
2011
26
The psychological impact of implantable cardioverter defibrillator implantation on Brugada syndrome patients. (21427091)
2011
27
Rebuttal to EP testing does not predict cardiac events in patients with Brugada syndrome. (21782776)
2011
28
Role of the R1135H KCNH2 mutation in Brugada syndrome. (19174314)
2010
29
Local conduction block of the atria by premature stimulus in a patient with Brugada syndrome. (19698955)
2010
30
Brugada syndrome: Controversies in Risk stratification and Management. (20930958)
2010
31
Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome. (19880418)
2010
32
Abnormal atrial repolarization and depolarization contribute to the inducibility of atrial fibrillation in Brugada syndrome. (20558904)
2010
33
Prevalence of the Brugada-type electrocardiogram and incidence of Brugada syndrome in patients with sick sinus syndrome. (20019410)
2010
34
Prevention of inappropriate ICD shocks in patients with Brugada syndrome. (19760052)
2010
35
Ischemia-induced Brugada-type ST-segment alternans and Brugada syndrome. (19345432)
2010
36
Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation. (19411664)
2009
37
Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). (19716089)
2009
38
A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome. (17445919)
2007
39
The management of Brugada syndrome patients. (18651443)
2007
40
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. (17854786)
2007
41
Brugada syndrome in a north Indian female-a case report. (19057062)
2006
42
Brugada syndrome--an update. (15880981)
2005
43
Atrial fibrillation and recurrent ventricular fibrillation during hypokalemia in Brugada syndrome. (16403168)
2005
44
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. (15910881)
2005
45
PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome]. (14625171)
2003
46
Electrical alternans in long QT syndrome resembling a Brugada syndrome pattern. (14516346)
2003
47
Natural history of Brugada syndrome: insights for risk stratification and management. (11901046)
2002
48
Brugada syndrome: the syndrome of right bundle branch block, ST segment elevation in V1 to V3 and sudden death. (17006566)
2001
49
Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes. (11150514)
2000
50
Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient. (11155778)
2000

Variations for Brugada Syndrome

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Clinvar genetic disease variations for Brugada Syndrome:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1CNM_000719.6(CACNA1C): c.116C> T (p.Ala39Val)SNVPathogenicrs121912776GRCh37Chr 12, 2224456: 2224456
2SCN5ANM_198056.2(SCN5A): c.3995delC (p.Pro1332Argfs)deletionPathogenicrs727504801GRCh38Chr 3, 38560397: 38560397
3SCN5ANM_198056.2(SCN5A): c.1936delC (p.Gln646Argfs)deletionPathogenicrs727505158GRCh38Chr 3, 38599005: 38599005
4SCN5ANM_198056.2(SCN5A): c.2582_2583delTT (p.Phe861Trpfs)deletionPathogenicrs794728914GRCh37Chr 3, 38627386: 38627387
5SCN5ANM_198056.2(SCN5A): c.4182C> G (p.Tyr1394Ter)SNVPathogenicrs863224532GRCh38Chr 3, 38560210: 38560210
6SCN5ANM_198056.2(SCN5A): c.4845_4847delCTTinsGTA (p.Tyr1615Ter)indelPathogenicrs863224533GRCh37Chr 3, 38593016: 38593018
7SCN5ANM_198056.2(SCN5A): c.4772G> A (p.Trp1591Ter)SNVPathogenicrs863225273GRCh37Chr 3, 38595811: 38595811
8SCN5ANM_198056.2(SCN5A): c.3352C> T (p.Gln1118Ter)SNVLikely pathogenic, Pathogenicrs869025520GRCh37Chr 3, 38620863: 38620863
9SCN5ANM_000335.4(SCN5A)indelPathogenicrs878855287GRCh38Chr 3, 38581005: 38581017
10SCN3BNM_018400.3(SCN3B): c.29T> C (p.Leu10Pro)SNVLikely pathogenic, Pathogenicrs121918282GRCh37Chr 11, 123524481: 123524481
11KCNE3NM_005472.4(KCNE3): c.296G> A (p.Arg99His)SNVPathogenicrs121908441GRCh37Chr 11, 74168313: 74168313
12SCN5ANM_198056.2(SCN5A): c.1127G> A (p.Arg376His)SNVPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
13SCN5ANM_000335.4(SCN5A): c.1231G> A (p.Val411Met)SNVPathogenicrs72549410GRCh37Chr 3, 38647549: 38647549
14SCN5ANM_198056.2(SCN5A): c.2254G> A (p.Gly752Arg)SNVLikely pathogenic, Pathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
15SCN5ANM_198056.2(SCN5A): c.2632C> T (p.Arg878Cys)SNVPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
16SCN5ANM_198056.2(SCN5A): c.311G> A (p.Arg104Gln)SNVPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
17SCN5ANM_198056.2(SCN5A): c.3995C> T (p.Pro1332Leu)SNVPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
18SCN5ANM_198056.2(SCN5A): c.4057G> A (p.Val1353Met)SNVPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
19SCN5ANM_198056.2(SCN5A): c.4217G> A (p.Gly1406Glu)SNVPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
20SCN5ANM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met)SNVPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
21SCN5ANM_198056.2(SCN5A): c.5227G> A (p.Gly1743Arg)SNVPathogenicrs199473305GRCh37Chr 3, 38592636: 38592636
22SCN5ANM_198056.2(SCN5A): c.845G> A (p.Arg282His)SNVPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
23SCN5ANM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys)SNVPathogenicrs137854601GRCh37Chr 3, 38592513: 38592513
24SCN5ANM_000335.4(SCN5A): c.5767G> A (p.Ala1923Thr)SNVPathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
25SCN5ANM_198056.2(SCN5A): c.1100G> A (p.Arg367His)SNVPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
26SCN5ANM_000335.4(SCN5A): c.2204C> T (p.Ala735Val)SNVPathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
27SCN5ANM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg)SNVPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
28SCN5ANM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His)SNVPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
29SCN5ANM_000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)SNVPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
30SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)SNVPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917

Expression for genes affiliated with Brugada Syndrome

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Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for genes affiliated with Brugada Syndrome

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Pathways related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
110.1CACNA1C, CACNA2D1, CACNB2
2
Show member pathways
10.1CACNA1C, CACNA2D1, CACNB2
310.1CACNA1C, CACNA2D1, CACNB2
410.0SCN10A, SCN1B, SCN2B, SCN5A
510.0CACNA1C, CACNA2D1, CACNB2, KCNQ1
6
Show member pathways
9.8HCN4, KCND3, KCNH2, KCNJ8, KCNQ1
7
Show member pathways
9.7CACNA2D1, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
8
Show member pathways
9.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
99.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
109.7GPD1L, KCNH2, KCNJ8, KCNQ1, SCN3B, SCN5A
11
Show member pathways
9.6CACNA1C, CACNA2D1, CACNB2, KCNJ8, KCNQ1, SCN1B
129.6CACNA1C, CACNB2, KCND3, KCNE3, KCNH2, KCNJ8
13
Show member pathways
9.6CACNA2D1, CACNB2, HCN4, KCND3, KCNH2, KCNJ8
14
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
15
Show member pathways
9.5CACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B
16
Show member pathways
9.5ANK3, CACNA1C, CACNB2, SCN10A, SCN1B, SCN2B
179.0CACNA1C, CACNB2, HCN4, KCND3, KCNE3, KCNH2
18
Show member pathways
8.8CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE3, KCNH2

GO Terms for genes affiliated with Brugada Syndrome

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Cellular components related to Brugada Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1L-type voltage-gated calcium channel complexGO:199045410.8CACNA1C, CACNA2D1, CACNB2
2voltage-gated calcium channel complexGO:000589110.8CACNA1C, CACNA2D1, CACNB2
3node of RanvierGO:003326810.7ANK3, SCN1B
4T-tubuleGO:003031510.6ANK3, CACNA2D1, SCN1B, SCN5A
5voltage-gated sodium channel complexGO:000151810.6SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
6Z discGO:003001810.2ANK3, CACNA1C, SCN3B, SCN5A
7sarcolemmaGO:004238310.2ANK3, KCND3, KCNJ8, SCN5A, SLMAP
8voltage-gated potassium channel complexGO:00080769.9KCND3, KCNE3, KCNH2, KCNJ8, KCNQ1
9intercalated discGO:00147049.8ANK3, PKP2, RANGRF, SCN1B, SCN5A
10plasma membraneGO:00058868.3ANK3, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4

Biological processes related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell action potentialGO:008604310.9SCN10A, SCN5A
2negative regulation of delayed rectifier potassium channel activityGO:190226010.9ANK3, KCNE3
3membrane depolarization during Purkinje myocyte cell action potentialGO:008604710.9SCN1B, SCN5A
4atrial cardiac muscle cell action potentialGO:008601410.8KCNQ1, SCN3B
5membrane repolarization during action potentialGO:008601110.8KCNH2, KCNQ1
6potassium ion export across plasma membraneGO:009762310.8KCNH2, KCNQ1
7membrane repolarization during ventricular cardiac muscle cell action potentialGO:009891510.8KCNH2, KCNQ1
8positive regulation of potassium ion transmembrane transportGO:190138110.8KCNH2, KCNQ1
9positive regulation of protein localization to cell surfaceGO:200001010.8GPD1L, RANGRF
10AV node cell action potentialGO:008601610.8SCN10A, SCN5A
11membrane depolarization during atrial cardiac muscle cell action potentialGO:009891210.8CACNA1C, CACNB2
12membrane repolarizationGO:008600910.8KCND3, KCNQ1
13calcium ion transport into cytosolGO:006040210.8CACNA1C, CACNA2D1
14calcium ion transmembrane transport via high voltage-gated calcium channelGO:006157710.8CACNA1C, CACNA2D1
15positive regulation of high voltage-gated calcium channel activityGO:190184310.8CACNA2D1, CACNB2
16cell communication by electrical coupling involved in cardiac conductionGO:008606410.8CACNA1C, PKP2
17membrane repolarization during cardiac muscle cell action potentialGO:008601310.8KCNH2, KCNQ1
18regulation of atrial cardiac muscle cell membrane repolarizationGO:006037210.7KCNQ1, SCN5A
19potassium ion exportGO:007143510.7KCND3, KCNH2, KCNQ1
20SA node cell action potentialGO:008601510.7HCN4, SCN3B, SCN5A
21membrane depolarization during AV node cell action potentialGO:008604510.7CACNA1C, CACNB2, SCN5A
22regulation of cardiac muscle contractionGO:005511710.7HCN4, SCN10A
23regulation of membrane depolarizationGO:000325410.7HCN4, RANGRF
24positive regulation of heart rateGO:001046010.7KCNQ1, SCN3B, TRPM4
25regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.7GPD1L, SCN3B, SCN5A
26membrane depolarizationGO:005189910.6SCN1B, SCN3B, SCN5A
27regulation of membrane repolarizationGO:006030610.6KCNE3, KCNH2, KCNQ1
28response to pyrethroidGO:004668410.5SCN1B, SCN2B
29regulation of sodium ion transmembrane transportGO:190230510.5RANGRF, SCN5A
30regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.5SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
31membrane depolarization during action potentialGO:008601010.4KCNH2, SCN10A, SCN3B, SCN5A
32sodium ion transportGO:000681410.4SCN10A, SCN3B, SCN5A
33regulation of sodium ion transmembrane transporter activityGO:200064910.3GPD1L, RANGRF, SCN1B, SCN2B, SCN3B
34regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.3CACNA2D1, KCNH2, KCNQ1, SCN1B, SCN5A
35membrane depolarization during cardiac muscle cell action potentialGO:008601210.3CACNA1C, CACNA2D1, SCN1B, SCN2B, SCN3B, SCN5A
36potassium ion transmembrane transportGO:007180510.3HCN4, KCNE3, KCNH2, KCNQ1
37regulation of ion transmembrane transportGO:003476510.3HCN4, KCND3, KCNJ8, SCN10A
38regulation of postsynaptic membrane potentialGO:006007810.2HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
39regulation of potassium ion transportGO:004326610.2ANK3, KCNE3
40regulation of ventricular cardiac muscle cell action potentialGO:009891110.2CACNA1C, PKP2
41regulation of membrane potentialGO:004239110.2HCN4, KCNH2, RANGRF
42ventricular cardiac muscle cell action potentialGO:008600510.2GPD1L, KCNH2, KCNQ1, PKP2, SCN3B, SCN5A
43neuronal action potentialGO:001922810.1ANK3, SCN10A, SCN5A
44cardiac muscle cell action potential involved in contractionGO:008600210.1CACNA1C, CACNA2D1, PKP2, SCN1B, SCN2B, SCN3B
45positive regulation of sodium ion transportGO:001076510.1ANK3, GPD1L, PKP2, SCN1B, SCN3B, SCN5A
46sodium ion transmembrane transportGO:003572510.0HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
47cardiac muscle contractionGO:00600489.8KCNH2, KCNQ1, SCN1B, SCN2B, SCN3B, SCN5A
48cardiac conductionGO:00613379.8CACNA1C, CACNA2D1, CACNB2, KCND3, KCNH2, KCNQ1
49regulation of heart rateGO:00020279.6GPD1L, HCN4, RANGRF, SCN10A, SCN5A
50regulation of heart rate by cardiac conductionGO:00860919.0CACNA1C, CACNA2D1, CACNB2, HCN4, KCNH2, KCNQ1

Molecular functions related to Brugada Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activity involved in Purkinje myocyte action potentialGO:008606210.8SCN1B, SCN5A
2inward rectifier potassium channel activityGO:000524210.8KCNH2, KCNJ8
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.8KCNH2, KCNQ1
4voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.8KCNH2, KCNQ1
5voltage-gated calcium channel activity involved in AV node cell action potentialGO:008605610.8CACNA1C, CACNB2
6high voltage-gated calcium channel activityGO:000833110.7CACNA1C, CACNB2
7delayed rectifier potassium channel activityGO:000525110.7KCND3, KCNH2, KCNQ1
8voltage-gated calcium channel activity involved in cardiac muscle cell action potentialGO:008600710.6CACNA1C, CACNA2D1, CACNB2
9voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:008600610.6SCN1B, SCN2B, SCN3B, SCN5A
10voltage-gated calcium channel activityGO:000524510.5CACNA1C, CACNA2D1, CACNB2
11voltage-gated sodium channel activityGO:000524810.2HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
12voltage-gated potassium channel activityGO:000524910.2HCN4, KCNE3, KCNH2, KCNQ1
13sodium channel regulator activityGO:001708010.1GPD1L, PKP2, RANGRF, SCN1B, SCN2B, SCN3B
14calmodulin bindingGO:000551610.1CACNA1C, KCNQ1, SCN5A, TRPM4
15scaffold protein bindingGO:00971109.8KCNH2, KCNQ1, SCN5A
16ion channel bindingGO:00443259.1ANK3, GPD1L, KCND3, KCNE3, KCNQ1, PKP2

Sources for Brugada Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet