SUDS
MCID: BRG001
MIFTS: 59

Brugada Syndrome (SUDS) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Brugada Syndrome:

Name: Brugada Syndrome 11 23 48 24 25 54 27 50 39 13 68
Sudden Unexpected Nocturnal Death Syndrome 23 48 24 25 68
Sudden Unexplained Nocturnal Death Syndrome 11 54 68
Pokkuri Death Syndrome 11 25 54
Bangungut 11 25 54
Sunds 11 25 54
 
Idiopathic Ventricular Fibrillation, Brugada Type 25 54
Sudden Unexplained Death Syndrome 25 27
Dream Disease 11 54
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 48
Brugada Type Idiopathic Ventricular Fibrillation 11
Suds 25

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 I49.8
MeSH39 D053840
NCIt45 C71059
SNOMED-CT62 418818005
Orphanet54 ORPHA130
MESH via Orphanet40 D053840
UMLS via Orphanet69 C1142166
ICD10 via Orphanet31 I49.8

Summaries for Brugada Syndrome

About this section
NIH Rare Diseases:48 Brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). signs and symptoms usually develop in adulthood but the diagnosis may be made at any age. symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the scn5a gene) and is inherited in an autosomal dominant manner. an acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. in some cases, the cause of brugada syndrome is unknown. treatment may include use of an implantable cardioverter defibrillator (icd). last updated: 3/16/2016

MalaCards based summary: Brugada Syndrome, also known as sudden unexpected nocturnal death syndrome, is related to brugada syndrome 2 and brugada syndrome 4. 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 Cardiac muscle contraction. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are cardiovascular system and nervous system.

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

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.

Wikipedia:71 Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG)... more...

GeneReviews for NBK1517

Related Diseases for Brugada Syndrome

About this section

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 Brugada Syndrome, Rangrf-Related
Scn5a-Related Brugada Syndrome

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

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1brugada syndrome 212.3
2brugada syndrome 412.2
3brugada syndrome 312.2
4brugada syndrome 712.2
5brugada syndrome 112.2
6brugada syndrome 612.2
7brugada syndrome 812.2
8brugada syndrome 512.2
9brugada syndrome 912.1
10brugada syndrome, rangrf-related11.7
11scn5a-related brugada syndrome11.7
12sudden arrhythmia death syndrome10.9
13heart block, progressive, type ia10.4CACNA1C, KCNE3, SCN5A
14camurati-engelmann disease10.4SCN1B, SCN5A
15retinal cone dystrophy 410.3CACNA1C, CACNA2D1, CACNB2
16developmental dysplasia of the hip 210.3GPD1L, SCN5A
17fatal infantile encephalomyopathy10.3SCN1B, SCN5A, TRPM4
18isolated encephalocele10.3CACNA1C, KCNH2, SCN5A
19combined oxidative phosphorylation deficiency 1710.3SCN1B, SCN5A, TRPM4
20keppen-lubinsky syndrome10.3CACNA1C, KCNH2, SCN5A
21cerebral creatine deficiency syndrome10.3CACNA1C, CACNA2D1, KCNH2
22patel bixler syndrome10.3CACNA1C, SCN5A
23fanconi anemia complementation group r10.3SCN1B, SCN5A, TRPM4
24sick sinus syndrome 110.3CACNA1C, KCNH2, SCN5A
25short qt syndrome 210.3CACNA1C, KCNH2, SCN5A
26squamous cell papilloma10.3HCN4, RANGRF, SCN5A
27familial periodic paralysis10.3HCN4, KCND3, KCNH2, SCN5A
28micturation-induced seizures10.3HCN4, SCN5A
29migraine with aura 910.3KCNH2, SCN5A
30hyperthyroxinemia10.3CACNA1C, KCND3, KCNE3, KCNH2, SCN5A
31lipodystrophy, familial partial, type 510.3HCN4, SCN5A
32long qt syndrome10.3
33third-degree atrioventricular block10.3HCN4, KCNH2, SCN5A, TRPM4
34multicentric carpotarsal osteolysis syndrome10.2KCNH2, SCN5A
35atrial fibrillation10.2
36adams-oliver syndrome10.2HCN4, KCNH2, SCN1B, SCN2B, SCN3B, SCN5A
37atrial fibrillation, familial, 310.2CACNA1C, KCND3, KCNE3, KCNE5, KCNH2, SCN3B
38fetal alcohol syndrome10.2KCNE3, KCNE5, KCNH2, SCN1B, SCN2B, SCN3B
39right bundle branch block10.2
40atrial fibrillation, familial, 1010.2GPD1L, KCNH2, KCNJ8, SCN1B, SCN2B, SCN3B
41syncope10.2
42proximal renal tubular acidosis10.1CACNA2D1, KCNH2
43cardiomyopathy10.1
44uterine fibroid10.0CACNA1C, CACNB2, GPD1L, HCN4, KCND3, SCN1B
45heart disease10.0
46wolff-parkinson-white syndrome10.0
47cardiac arrest10.0
48catecholaminergic polymorphic ventricular tachycardia10.0
49sick sinus syndrome10.0
50hypokalemia10.0

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



Diseases related to brugada syndrome

Symptoms & Phenotypes for Brugada Syndrome

About this section

MGI Mouse Phenotypes related to Brugada Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.6CACNA1C, CACNA2D1, CACNB2, HCN4, KCND3, KCNE3
2MP:00036319.3ANK3, CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3

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 11593
4LorajminePhase 4, Phase 24
5Anti-Arrhythmia AgentsPhase 4, Phase 2, Phase 3, Phase 13093
6Diuretics, Potassium SparingPhase 4, Phase 2, Phase 3, Phase 11917
7
4-AminopyridineapprovedPhase 369504-24-51727
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 34556-54-2441074
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
β-quinine
9Potassium Channel BlockersPhase 3180
103,4-diaminopyridinePhase 320
11Cytochrome P-450 Enzyme InhibitorsPhase 2, Phase 33917
12Cytochrome P-450 CYP2D6 InhibitorsPhase 2, Phase 3727
13HydroquinidinePhase 2, Phase 32
14Muscarinic AntagonistsPhase 2, Phase 31166
15Cholinergic AntagonistsPhase 2, Phase 31706
16Neurotransmitter AgentsPhase 2, Phase 318340
17Quinidine gluconatePhase 2, Phase 345
18Antiparasitic AgentsPhase 2, Phase 32199
19Cholinergic AgentsPhase 2, Phase 33992
20Adrenergic AgentsPhase 2, Phase 35352
21Adrenergic AntagonistsPhase 2, Phase 31573
22Adrenergic alpha-AntagonistsPhase 2, Phase 3739
23Anti-Infective AgentsPhase 2, Phase 322062
24Antiprotozoal AgentsPhase 2, Phase 32051
25AntimalarialsPhase 2, Phase 31246
26Peripheral Nervous System AgentsPhase 323689
27Autonomic AgentsPhase 310150
28ParasympatholyticsPhase 31085
29Anesthetics9596

Interventional clinical trials:

(show all 20)
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 SubjectsRecruitingNCT02933437Phase 2
9Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesUnknown statusNCT00221832
10AnalyST & Brugada Syndrome - Feasibility StudyCompletedNCT02052765
11Epicardial Ablation in Brugada SyndromeCompletedNCT02641431
12Epicardial Ablation in Brugada Syndrome. An Extension Study of 200 BrS.PatientsRecruitingNCT03106701
13Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada PatientsRecruitingNCT02344277
14Worm Study: Modifier Genes in Sudden Cardiac DeathRecruitingNCT02014961
15Safety of Local Dental Anesthesia in Patients With Cardiac ChannelopathiesRecruitingNCT03182777
16Sudden Unexplained Death in Childhood (SUDC) RegistryRecruitingNCT03109197
17Genetic Markers of Cardiovascular Disease in EpilepsyRecruitingNCT02824822
18Investigating Hereditary Cardiac Disease by Reprogramming Skin Cells to Heart MuscleActive, not recruitingNCT01865981
19Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
20Ablation 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

About this section

Genetic tests related to Brugada Syndrome:

id Genetic test Affiliating Genes
1 Brugada Syndrome27 24 SCN5A
2 Sudden Unexplained Death27

Anatomical Context for Brugada Syndrome

About this section

MalaCards organs/tissues related to Brugada Syndrome:

36
Heart, Testes, Brain, Eye, Myeloid, Skeletal muscle

Publications for Brugada Syndrome

About this section

Articles related to Brugada Syndrome:

(show top 50)    (show all 737)
idTitleAuthorsYear
1
A meta-analysis on the prognostic significance of inferolateral early repolarization pattern in Brugada syndrome. (28087596)
2017
2
Early repolarization syndrome and Brugada syndrome: Similar or different? (27940004)
2017
3
Outcomes of Brugada Syndrome Patients with Coronary Artery Vasospasm. (28090040)
2017
4
Uneventful prolonged propofol infusion in a patient with Brugada syndrome. (28072945)
2017
5
Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome. (28491758)
2017
6
A novel method to enhance phenotype, epicardial functional substrates, and ventricular tachyarrhythmias in brugada syndrome. (28065832)
2017
7
Brugada syndrome: Merely a ion channelopathy, a structural heart disease, or mixed? (27919766)
2016
8
A case of brugada syndrome presenting with ventricular fibrillation storm and prominent early repolarization. (27038845)
2016
9
Brugada syndrome presenting as incessant polymorphic ventricular tachycardia: a rare cause for a common outcome after cardiac arrest in a middle-aged Asian man. (27177936)
2016
10
Risk stratification in Brugada syndrome: Where is the finish line? (27498077)
2016
11
Pathogenesis and management of Brugada syndrome. (27629507)
2016
12
Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management. (27151277)
2016
13
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance. (27200363)
2016
14
Risk stratification of ventricular fibrillation in Brugada syndrome using noninvasive scoring methods. (27424075)
2016
15
Drug-induced Brugada syndrome: Clinical characteristics and risk factors. (27131070)
2016
16
Low-Dose Quinidine Effectively Reduced Shocks in Brugada Syndrome Patients with an Implantable Cardioverter Defibrillator: A Chinese Case Series Report. (27550400)
2016
17
Prevalence and Clinical Impact of Early Repolarization Pattern and QRS-Fragmentation in High-Risk Patients With Brugada Syndrome. (27558008)
2016
18
The utility of T-wave alternans during the morning in the summer for the risk stratification of patients with Brugada syndrome. (27480879)
2016
19
An R1632C variant in the SCN5A gene causing Brugada syndrome. (27082542)
2016
20
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. (26036855)
2016
21
Atypical electrocardiographic presentation of Brugada syndrome. (27567233)
2016
22
Modeling and Genome-Editing Brugada Syndrome in a Dish. (27810049)
2016
23
Management of Brugada Syndrome 2016: Should All High Risk Patients Receive an ICD? All High-Risk Patients Should Receive an Implantable Cardiac Defibrillator. (27906652)
2016
24
Pericarditis mimicking Brugada syndrome: A case report. (27863892)
2016
25
Simultaneous Non-Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms. (27930354)
2016
26
A Zebra Among Horses: A Case of Brugada Syndrome and Coronary Artery Disease. (27139138)
2016
27
Characterization of the epicardial substrate for catheter ablation of Brugada syndrome. (27453126)
2016
28
Prognostic significance of fever-induced Brugada syndrome. (27033637)
2016
29
Brugada Syndrome:Risk Stratification And Management. (27909531)
2016
30
A Zebra Among Horses: A Case of Brugada Syndrome and Coronary Artery Disease. (27139132)
2016
31
The Complex Network of the Brugada Syndrome. (27150696)
2016
32
Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function. (27553229)
2016
33
p.D1690N sodium voltage-gated channelA I+ subunitA 5 mutation reduced sodium current density and is associated with Brugada syndrome. (27108952)
2016
34
Variants of Brugada Syndrome and Early Repolarization Syndrome: An Expanded Concept of J-Wave Syndrome. (28000227)
2016
35
Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome. (26960954)
2016
36
Reply: Search for Evidence-Based Medicine for Brugada Syndrome: The Complex Network of the Brugada Syndrome. (27150697)
2016
37
Risk factors for cardiac events in patients with Brugada syndrome: A PRISMA-compliant meta-analysis and systematic review. (27472692)
2016
38
Reply: Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases : Ibutilide as a Torsade de Pointes Stress Test. (27282904)
2016
39
Low amplitude ECG and QRS fragmentation in provocable coved-type ST-segment elevation on surface ECG are strong predictors of a continuum between arrhythmogenic cardiomypathy and Brugada syndrome. (27061648)
2016
40
Long-Term Trends in Newly Diagnosed Brugada Syndrome: Implications for Risk Stratification. (27491905)
2016
41
Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome. (27032887)
2016
42
Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome: New Insights From Molecular Biology and Clinical Implications. (26987567)
2016
43
Management of Brugada Syndrome 2016: Should All High Risk Patients Receive an ICD? Alternatives to Implantable Cardiac Defibrillator Therapy for Brugada Syndrome. (27906651)
2016
44
Clinical presentation and outcome of Brugada syndrome diagnosed with the new 2013 criteria. (27098113)
2016
45
Intoxication with alcohol: An underestimated trigger of Brugada syndrome? (27186380)
2016
46
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect. (27381756)
2016
47
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. (27282903)
2016
48
Search for Evidence-Based Medicine for Brugada Syndrome. (27150695)
2016
49
Late gadolinium enhancement in Brugada syndrome: A marker for subtle underlying cardiomyopathy? (27919765)
2016
50
Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current. (26729854)
2016

Variations for Brugada Syndrome

About this section

Clinvar genetic disease variations for Brugada Syndrome:

5 (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1SCN5ANM_ 198056.2(SCN5A): c.3963+1G> ASNVLikely pathogenicrs483353016GRCh37Chr 3, 38603905: 38603905
2KCNH2NM_ 000238.3(KCNH2): c.2350C> T (p.Arg784Trp)SNVLikely pathogenic, risk factorrs12720441GRCh37Chr 7, 150647304: 150647304
3SCN5ANM_ 000335.4(SCN5A): c.612-2A> GSNVLikely pathogenicrs370438420GRCh37Chr 3, 38655327: 38655327
4SCN5ANM_ 198056.2(SCN5A): c.255delC (p.Phe86Serfs)deletionLikely pathogenicrs727503411GRCh37Chr 3, 38674544: 38674544
5CACNA1CNM_ 000719.6(CACNA1C): c.116C> T (p.Ala39Val)SNVPathogenicrs121912776GRCh37Chr 12, 2224456: 2224456
6SCN5ANM_ 198056.2(SCN5A): c.3995delC (p.Pro1332Argfs)deletionPathogenicrs727504801GRCh38Chr 3, 38560397: 38560397
7SCN5ANM_ 198056.2(SCN5A): c.1936delC (p.Gln646Argfs)deletionPathogenicrs727505158GRCh38Chr 3, 38599005: 38599005
8SCN5ANM_ 198056.2(SCN5A): c.1338+2T> ASNVPathogenic/ Likely pathogenicrs786204839GRCh37Chr 3, 38647440: 38647440
9SCN5ANM_ 198056.2(SCN5A): c.1652C> T (p.Ala551Val)SNVLikely pathogenicrs201641342GRCh37Chr 3, 38645441: 38645441
10SCN5ANM_ 198056.2(SCN5A): c.2575C> T (p.Gln859Ter)SNVPathogenicrs794728865GRCh37Chr 3, 38627394: 38627394
11SCN5ANM_ 198056.2(SCN5A): c.2582_ 2583delTT (p.Phe861Trpfs)deletionPathogenicrs794728914GRCh37Chr 3, 38627386: 38627387
12SCN5ANM_ 198056.2(SCN5A): c.4519_ 4527delCAGAAGCCC (p.Gln1507_ Pro1509del)deletionPathogenic/ Likely pathogenicrs397514251GRCh37Chr 3, 38597162: 38597170
13SCN5ANM_ 198056.2(SCN5A): c.4182C> G (p.Tyr1394Ter)SNVPathogenicrs863224532GRCh38Chr 3, 38560210: 38560210
14SCN5ANM_ 198056.2(SCN5A): c.4845_ 4847delCTTinsGTA (p.Tyr1615Ter)indelPathogenicrs863224533GRCh37Chr 3, 38593016: 38593018
15SCN5ANM_ 198056.2(SCN5A): c.4772G> A (p.Trp1591Ter)SNVPathogenicrs863225273GRCh37Chr 3, 38595811: 38595811
16SCN5ANM_ 198056.2(SCN5A): c.784A> C (p.Ser262Arg)SNVLikely pathogenicrs777689378GRCh38Chr 3, 38609884: 38609884
17SCN5ANM_ 198056.2(SCN5A): c.3352C> T (p.Gln1118Ter)SNVPathogenic/ Likely pathogenicrs869025520GRCh37Chr 3, 38620863: 38620863
18SCN5ANM_ 001099404.1(SCN5A): c.4132G> A (p.Val1378Met)SNVLikely pathogenicrs748312802GRCh37Chr 3, 38601751: 38601751
19SCN5ANM_ 198056.2(SCN5A): c.4477_ 4479delAAG (p.Lys1493del)deletionLikely pathogenicrs869025522GRCh37Chr 3, 38597210: 38597212
20SCN5ANM_ 000335.4(SCN5A): c.3142_ 3154delCCCATCGCTGTGGinsTCTGACTGTGT (p.Pro1048Serfs)indelPathogenicrs878855287GRCh38Chr 3, 38581005: 38581017
21SCN5ANM_ 198056.2(SCN5A): c.656G> A (p.Arg219His)SNVLikely pathogenicrs878855296GRCh38Chr 3, 38613790: 38613790
22SCN5ANM_ 198056.2(SCN5A): c.665G> A (p.Arg222Gln)SNVPathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
23SCN5ANM_ 198056.2(SCN5A): c.2636G> A (p.Trp879Ter)SNVPathogenicrs1060501114GRCh38Chr 3, 38585842: 38585842
24SCN5ANM_ 198056.2(SCN5A): c.5417_ 5420delCTCA (p.Thr1806Serfs)deletionLikely pathogenicrs1060501127GRCh38Chr 3, 38550952: 38550955
25SCN5ANM_ 198056.2(SCN5A): c.3010_ 3022delTGCATTGCCACCC (p.Cys1004Profs)deletionPathogenic/ Likely pathogenicGRCh38Chr 3, 38581137: 38581149
26SCN5ANM_ 198056.2(SCN5A): c.2787+1G> TSNVLikely pathogenicrs1060501130GRCh38Chr 3, 38585690: 38585690
27SCN5ANM_ 198056.2(SCN5A): c.2933G> A (p.Trp978Ter)SNVPathogenicrs1060501135GRCh37Chr 3, 38622717: 38622717
28SCN5ANM_ 198056.2(SCN5A): c.904G> T (p.Glu302Ter)SNVPathogenicrs1060501136GRCh38Chr 3, 38609764: 38609764
29SCN5ANM_ 198056.2(SCN5A): c.3285G> A (p.Trp1095Ter)SNVPathogenicrs759924541GRCh38Chr 3, 38579439: 38579439
30SCN5ANM_ 198056.2(SCN5A): c.104delG (p.Gly35Alafs)deletionPathogenicrs1060501142GRCh38Chr 3, 38633204: 38633204
31SCN5ANM_ 198056.2(SCN5A): c.5428G> T (p.Glu1810Ter)SNVPathogenicrs1060501145GRCh38Chr 3, 38550944: 38550944
32SCN5ANC_ 000003.12: g.(?_ 38613743)_ (38622489_ ?)deldeletionPathogenicGRCh37Chr 3, 38655234: 38663980
33SCN5ANC_ 000003.12: g.(?_ 38548062)_ (38551558_ ?)deldeletionLikely pathogenicGRCh38Chr 3, 38548062: 38551558
34SCN5ANC_ 000003.12: g.(?_ 38633035)_ (38633359_ ?)deldeletionPathogenicGRCh37Chr 3, 38674526: 38674850
35SCN5ANM_ 198056.2(SCN5A): c.1066G> A (p.Asp356Asn)SNVLikely pathogenicrs199473565GRCh37Chr 3, 38648234: 38648234
36SCN5ANM_ 198056.2(SCN5A): c.1099C> T (p.Arg367Cys)SNVLikely pathogenicrs199473097GRCh37Chr 3, 38648201: 38648201
37SCN5ANM_ 198056.2(SCN5A): c.1127G> A (p.Arg376His)SNVPathogenicrs199473101GRCh37Chr 3, 38648173: 38648173
38SCN5ANM_ 000335.4(SCN5A): c.1231G> A (p.Val411Met)SNVPathogenicrs72549410GRCh37Chr 3, 38647549: 38647549
39SCN5ANM_ 198056.2(SCN5A): c.1595T> G (p.Phe532Cys)SNVLikely pathogenicrs199473573GRCh37Chr 3, 38645498: 38645498
40SCN5ANM_ 198056.2(SCN5A): c.2254G> A (p.Gly752Arg)SNVPathogenic/ Likely pathogenicrs199473153GRCh37Chr 3, 38639228: 38639228
41SCN5ANM_ 198056.2(SCN5A): c.2440C> T (p.Arg814Trp)SNVPathogenic/ Likely pathogenicrs199473161GRCh37Chr 3, 38627529: 38627529
42SCN5ANM_ 198056.2(SCN5A): c.2632C> T (p.Arg878Cys)SNVPathogenicrs199473168GRCh37Chr 3, 38627337: 38627337
43SCN5ANM_ 198056.2(SCN5A): c.2893C> T (p.Arg965Cys)SNVLikely pathogenicrs199473180GRCh37Chr 3, 38622757: 38622757
44SCN5ANM_ 198056.2(SCN5A): c.310C> T (p.Arg104Trp)SNVLikely pathogenicrs199473055GRCh37Chr 3, 38671884: 38671884
45SCN5ANM_ 198056.2(SCN5A): c.311G> A (p.Arg104Gln)SNVPathogenicrs199473554GRCh37Chr 3, 38671883: 38671883
46SCN5ANM_ 198056.2(SCN5A): c.361C> T (p.Arg121Trp)SNVLikely pathogenicrs199473556GRCh37Chr 3, 38671833: 38671833
47SCN5ANM_ 198056.2(SCN5A): c.362G> A (p.Arg121Gln)SNVPathogenicrs199473058GRCh37Chr 3, 38671832: 38671832
48SCN5ANM_ 198056.2(SCN5A): c.3695G> A (p.Arg1232Gln)SNVLikely pathogenicrs199473206GRCh37Chr 3, 38608045: 38608045
49SCN5ANM_ 198056.2(SCN5A): c.3956G> T (p.Gly1319Val)SNVLikely pathogenicrs199473220GRCh37Chr 3, 38603913: 38603913
50SCN5ANM_ 198056.2(SCN5A): c.3995C> T (p.Pro1332Leu)SNVPathogenicrs199473225GRCh37Chr 3, 38601888: 38601888
51SCN5ANM_ 198056.2(SCN5A): c.4057G> A (p.Val1353Met)SNVPathogenicrs199473233GRCh37Chr 3, 38601826: 38601826
52SCN5ANM_ 198056.2(SCN5A): c.4217G> A (p.Gly1406Glu)SNVPathogenicrs199473609GRCh37Chr 3, 38601666: 38601666
53SCN5ANM_ 198056.2(SCN5A): c.4321G> C (p.Glu1441Gln)SNVLikely pathogenicrs199473249GRCh37Chr 3, 38598048: 38598048
54SCN5ANM_ 198056.2(SCN5A): c.4346A> G (p.Tyr1449Cys)SNVLikely pathogenicrs199473613GRCh37Chr 3, 38598023: 38598023
55SCN5ANM_ 198056.2(SCN5A): c.4501C> G (p.Leu1501Val)SNVLikely pathogenicrs199473266GRCh37Chr 3, 38597188: 38597188
56SCN5ANM_ 198056.2(SCN5A): c.481G> A (p.Glu161Lys)SNVPathogenicrs199473062GRCh37Chr 3, 38663892: 38663892
57SCN5ANM_ 198056.2(SCN5A): c.4859C> T (p.Thr1620Met)SNVPathogenicrs199473282GRCh37Chr 3, 38593004: 38593004
58SCN5ANM_ 198056.2(SCN5A): c.5227G> A (p.Gly1743Arg)SNVPathogenicrs199473305GRCh37Chr 3, 38592636: 38592636
59SCN5ANM_ 198056.2(SCN5A): c.844C> T (p.Arg282Cys)SNVLikely pathogenicrs199473082GRCh37Chr 3, 38651315: 38651315
60SCN5ANM_ 198056.2(SCN5A): c.845G> A (p.Arg282His)SNVPathogenicrs199473083GRCh37Chr 3, 38651314: 38651314
61SCN5ANM_ 198056.2(SCN5A): c.4931G> A (p.Arg1644His)SNVPathogenicrs28937316GRCh37Chr 3, 38592932: 38592932
62SCN5ANM_ 198056.2(SCN5A): c.5350G> A (p.Glu1784Lys)SNVPathogenicrs137854601GRCh37Chr 3, 38592513: 38592513
63SCN5ANM_ 198056.2(SCN5A): c.5770G> A (p.Ala1924Thr)SNVPathogenic/ Likely pathogenicrs137854603GRCh37Chr 3, 38592093: 38592093
64SCN5ANM_ 198056.2(SCN5A): c.4783G> A (p.Asp1595Asn)SNVPathogenic/ Likely pathogenicrs137854607GRCh37Chr 3, 38595800: 38595800
65SCN5ANM_ 198056.2(SCN5A): c.1100G> A (p.Arg367His)SNVPathogenicrs28937318GRCh37Chr 3, 38648200: 38648200
66SCN5ANM_ 198056.2(SCN5A): c.2204C> T (p.Ala735Val)SNVPathogenic/ Likely pathogenicrs137854611GRCh37Chr 3, 38639278: 38639278
67SCN5ANM_ 198056.2(SCN5A): c.4222G> A (p.Gly1408Arg)SNVPathogenicrs137854612GRCh37Chr 3, 38601661: 38601661
68SCN5ANM_ 000335.4(SCN5A): c.5380T> C (p.Tyr1794His)SNVPathogenicrs137854615GRCh37Chr 3, 38592480: 38592480
69SCN5ANM_ 000335.4(SCN5A): c.3781G> A (p.Gly1261Ser)SNVPathogenicrs137854616GRCh37Chr 3, 38607956: 38607956
70SCN5ANM_ 198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)SNVPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917

Expression for genes affiliated with Brugada Syndrome

About this section
Search GEO for disease gene expression data for Brugada Syndrome.

Pathways for genes affiliated with Brugada Syndrome

About this section

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

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
110.1CACNA1C, CACNA2D1, CACNB2
210.1CACNA1C, CACNA2D1, CACNB2
310.1CACNA1C, CACNA2D1, CACNB2
410.0SCN10A, SCN1B, SCN2B, SCN5A
5
Show member pathways
10.0CACNA1C, CACNA2D1, CACNB2, PKP2
6
Show member pathways
9.9HCN4, KCND3, KCNH2, KCNJ8
79.9GPD1L, KCNH2, KCNJ8, SCN3B, SCN5A
8
Show member pathways
9.8CACNA1C, CACNA2D1, CACNB2, KCNJ8, SCN1B, SCN5A
99.8CACNA1C, CACNB2, KCND3, KCNE3, KCNH2, KCNJ8
10
Show member pathways
9.7CACNA2D1, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
119.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
12
Show member pathways
9.7ANK3, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
13
Show member pathways
9.7CACNA2D1, 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
9.3ANK3, CACNA1C, CACNB2, PKP2, SCN10A, SCN1B
17
Show member pathways
9.1CACNA1C, CACNA2D1, CACNB2, KCNE3, KCNE5, RANGRF
189.0CACNA1C, CACNB2, HCN4, KCND3, KCNE3, KCNE5
19
Show member pathways
8.8CACNA1C, CACNA2D1, CACNB2, KCND3, KCNE3, KCNE5

GO Terms for genes affiliated with Brugada Syndrome

About this section

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1node of RanvierGO:003326811.0ANK3, SCN1B
2L-type voltage-gated calcium channel complexGO:199045411.0CACNA1C, CACNA2D1, CACNB2
3sodium channel complexGO:003470610.9SCN1B, TRPM4
4voltage-gated calcium channel complexGO:000589110.7CACNA1C, CACNA2D1, CACNB2
5intercalated discGO:001470410.6ANK3, PKP2, RANGRF, SCN1B, SCN5A
6T-tubuleGO:003031510.6ANK3, CACNA2D1, SCN1B, SCN5A
7voltage-gated sodium channel complexGO:000151810.4SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
8sarcolemmaGO:004238310.4ANK3, CACNB2, KCND3, KCNJ8, SCN5A, SLMAP
9voltage-gated potassium channel complexGO:000807610.3KCND3, KCNE3, KCNE5, KCNH2, KCNJ8
10Z discGO:003001810.0ANK3, CACNA1C, SCN3B, SCN5A
11integral component of membraneGO:00160219.3CACNA1C, CACNA2D1, HCN4, KCND3, KCNE3, KCNE5
12membraneGO:00160209.0ANK3, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4
13plasma membraneGO:00058868.7ANK3, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4

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

(show top 50)    (show all 63)
idNameGO IDScoreTop Affiliating Genes
1AV node cell action potentialGO:008601611.0SCN10A, SCN5A
2bundle of His cell action potentialGO:008604311.0SCN10A, SCN5A
3calcium ion transmembrane transport via high voltage-gated calcium channelGO:006157711.0CACNA1C, CACNA2D1
4calcium ion transport into cytosolGO:006040211.0CACNA1C, CACNA2D1
5positive regulation of heart rateGO:001046011.0SCN3B, TRPM4
6membrane depolarization during SA node cell action potentialGO:008604611.0HCN4, SCN5A
7positive regulation of high voltage-gated calcium channel activityGO:190184311.0CACNA2D1, CACNB2
8sodium ion import across plasma membraneGO:009871911.0HCN4, TRPM4
9cell communication by electrical coupling involved in cardiac conductionGO:008606411.0CACNA1C, PKP2
10potassium ion export across plasma membraneGO:009762311.0KCND3, KCNH2
11positive regulation of protein localization to cell surfaceGO:200001011.0GPD1L, RANGRF
12potassium ion import across plasma membraneGO:199057311.0HCN4, KCNJ8
13regulation of cardiac muscle contractionGO:005511711.0HCN4, SCN10A
14regulation of atrial cardiac muscle cell membrane repolarizationGO:006037211.0KCNE5, SCN5A
15response to pyrethroidGO:004668411.0SCN1B, SCN2B
16negative regulation of delayed rectifier potassium channel activityGO:190226011.0ANK3, KCNE3
17regulation of membrane depolarization during cardiac muscle cell action potentialGO:190082511.0RANGRF, SLMAP
18membrane depolarization during atrial cardiac muscle cell action potentialGO:009891211.0CACNA1C, CACNB2, SCN5A
19regulation of potassium ion transportGO:004326611.0ANK3, KCNE3
20regulation of cardiac muscle cell action potential involved in regulation of contractionGO:009890911.0HCN4, RANGRF
21regulation of membrane depolarizationGO:000325411.0HCN4, RANGRF
22membrane depolarization during Purkinje myocyte cell action potentialGO:008604710.9SCN1B, SCN5A, TRPM4
23negative regulation of potassium ion transmembrane transportGO:190138010.9KCNE5, KCNH2
24membrane depolarization during bundle of His cell action potentialGO:008604810.9CACNA2D1, SCN5A, TRPM4
25membrane depolarizationGO:005189910.9SCN1B, SCN3B, SCN5A
26positive regulation of potassium ion transmembrane transportGO:190138110.9KCNE5, KCNH2
27regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.9GPD1L, SCN3B, SCN5A
28regulation of membrane repolarizationGO:006030610.9KCNE5, KCNH2
29regulation of potassium ion transmembrane transportGO:190137910.9KCNE5, KCNH2
30SA node cell action potentialGO:008601510.9HCN4, SCN3B, SCN5A
31atrial cardiac muscle cell action potentialGO:008601410.9KCNE5, SCN3B, SCN5A
32regulation of ventricular cardiac muscle cell action potentialGO:009891110.9CACNA1C, PKP2, TRPM4
33neuronal action potentialGO:001922810.9ANK3, SCN10A, SCN5A
34regulation of sodium ion transmembrane transportGO:190230510.9RANGRF, SCN5A, SLMAP
35membrane depolarization during AV node cell action potentialGO:008604510.9CACNA1C, CACNB2, SCN5A, TRPM4
36protein localization to plasma membraneGO:007265910.9ANK3, SCN3B, SLMAP
37membrane repolarization during ventricular cardiac muscle cell action potentialGO:009891510.9KCND3, KCNH2, KCNJ8
38calcium ion transmembrane transportGO:007058810.8CACNA1C, CACNA2D1, CACNB2, TRPM4
39calcium ion transportGO:000681610.8CACNA1C, CACNA2D1, CACNB2, TRPM4
40membrane repolarization during cardiac muscle cell action potentialGO:008601310.8KCND3, KCNE5, KCNH2
41potassium ion exportGO:007143510.8KCND3, KCNE5, KCNH2
42membrane depolarization during action potentialGO:008601010.8KCNH2, SCN10A, SCN3B, SCN5A
43regulation of membrane potentialGO:004239110.7HCN4, KCNH2, RANGRF, TRPM4
44regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.6SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
45regulation of heart rateGO:000202710.6GPD1L, HCN4, RANGRF, SCN10A, SCN5A
46potassium ion transportGO:000681310.6HCN4, KCND3, KCNE3, KCNH2, KCNJ8
47regulation of sodium ion transmembrane transporter activityGO:200064910.6GPD1L, RANGRF, SCN1B, SCN2B, SCN3B
48regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.6CACNA2D1, KCNE5, KCNH2, SCN1B, SCN5A
49membrane depolarization during cardiac muscle cell action potentialGO:008601210.6CACNA1C, HCN4, SCN1B, SCN2B, SCN3B, SCN5A
50regulation of postsynaptic membrane potentialGO:006007810.5HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:000833111.0CACNA1C, CACNB2
2voltage-gated calcium channel activity involved in AV node cell action potentialGO:008605610.9CACNA1C, CACNB2
3inward rectifier potassium channel activityGO:000524210.9KCNH2, KCNJ8
4voltage-gated calcium channel activityGO:000524510.7CACNA1C, CACNA2D1, CACNB2
5voltage-gated calcium channel activity involved in cardiac muscle cell action potentialGO:008600710.7CACNA1C, CACNA2D1, CACNB2
6calcium channel activityGO:000526210.7CACNA1C, CACNA2D1, CACNB2, TRPM4
7potassium channel activityGO:000526710.6HCN4, KCND3, KCNE3, KCNH2
8voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.5KCND3, KCNH2, KCNJ8
9voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.5KCND3, KCNE5, KCNH2
10ion channel activityGO:000521610.4CACNA1C, HCN4, KCNH2, SCN10A, SCN5A, TRPM4
11voltage-gated sodium channel activity involved in Purkinje myocyte action potentialGO:008606210.3SCN1B, SCN5A
12sodium channel activityGO:000527210.3HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
13voltage-gated potassium channel activityGO:000524910.2HCN4, KCND3, KCNE3, KCNE5, KCNH2
14sodium channel regulator activityGO:001708010.2GPD1L, PKP2, RANGRF, SCN1B, SCN2B, SCN3B
15voltage-gated sodium channel activityGO:00052489.9HCN4, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A
16voltage-gated sodium channel activity involved in cardiac muscle cell action potentialGO:00860069.9SCN1B, SCN2B, SCN3B, SCN5A
17voltage-gated ion channel activityGO:00052449.8CACNA1C, HCN4, KCND3, KCNH2, KCNJ8, SCN10A
18ion channel bindingGO:00443259.8ANK3, GPD1L, KCND3, KCNE3, KCNE5, PKP2

Sources for Brugada Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet