BRGDA6
MCID: BRG008
MIFTS: 32

Brugada Syndrome 6 (BRGDA6)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 6

MalaCards integrated aliases for Brugada Syndrome 6:

Name: Brugada Syndrome 6 57 12 72 29 13 6 15 70
Brgda6 57 12 72
Syndrome, Brugada, Type 6 39

Characteristics:

HPO:

31
brugada syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110223
OMIM® 57 613119
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 I49.8
MedGen 41 C2751089
UMLS 70 C2751089

Summaries for Brugada Syndrome 6

OMIM® : 57 Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). (613119) (Updated 20-May-2021)

MalaCards based summary : Brugada Syndrome 6, also known as brgda6, is related to familial periodic paralysis and long qt syndrome 5. An important gene associated with Brugada Syndrome 6 is KCNE3 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3), and among its related pathways/superpathways are Cardiac conduction and Phase 0 - rapid depolarisation. Affiliated tissues include heart and brain, and related phenotypes are st segment elevation and cardiac arrest

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the KCNE3 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 72 Brugada syndrome 6: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Related Diseases for Brugada Syndrome 6

Graphical network of the top 20 diseases related to Brugada Syndrome 6:



Diseases related to Brugada Syndrome 6

Symptoms & Phenotypes for Brugada Syndrome 6

Human phenotypes related to Brugada Syndrome 6:

31
# Description HPO Frequency HPO Source Accession
1 st segment elevation 31 very rare (1%) HP:0012251
2 cardiac arrest 31 HP:0001695
3 ventricular fibrillation 31 HP:0001663

Clinical features from OMIM®:

613119 (Updated 20-May-2021)

Drugs & Therapeutics for Brugada Syndrome 6

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 6

Genetic Tests for Brugada Syndrome 6

Genetic tests related to Brugada Syndrome 6:

# Genetic test Affiliating Genes
1 Brugada Syndrome 6 29 KCNE3

Anatomical Context for Brugada Syndrome 6

MalaCards organs/tissues related to Brugada Syndrome 6:

40
Heart, Brain

Publications for Brugada Syndrome 6

Articles related to Brugada Syndrome 6:

# Title Authors PMID Year
1
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 57 6
19122847 2008
2
KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram. 6
22987075 2012
3
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. 6
19306396 2009
4
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
5
A case of Brugada syndrome which developed status epilepticus. 61
27890882 2016
6
Abnormal myocardial presynaptic norepinephrine recycling in patients with Brugada syndrome. 61
15520312 2004

Variations for Brugada Syndrome 6

ClinVar genetic disease variations for Brugada Syndrome 6:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPT2 , KCNE3 NM_005472.5(KCNE3):c.248G>A (p.Arg83His) SNV Conflicting interpretations of pathogenicity 5541 rs17215437 GRCh37: 11:74168361-74168361
GRCh38: 11:74457316-74457316
2 LIPT2 , KCNE3 NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) SNV Conflicting interpretations of pathogenicity 126426 rs200856070 GRCh37: 11:74168599-74168599
GRCh38: 11:74457554-74457554
3 KCNE3 NM_005472.5(KCNE3):c.304A>G (p.Met102Val) SNV Uncertain significance 1003756 GRCh37: 11:74168305-74168305
GRCh38: 11:74457260-74457260
4 KCNE3 NM_005472.4(KCNE3):c.296G>A (p.Arg99His) SNV Uncertain significance 5542 rs121908441 GRCh37: 11:74168313-74168313
GRCh38: 11:74457268-74457268
5 KCNE3 NM_005472.4(KCNE3):c.20C>T (p.Thr7Met) SNV Uncertain significance 190800 rs547194943 GRCh37: 11:74168589-74168589
GRCh38: 11:74457544-74457544
6 KCNE3 NM_005472.4(KCNE3):c.95G>A (p.Arg32Gln) SNV Uncertain significance 470686 rs745645715 GRCh37: 11:74168514-74168514
GRCh38: 11:74457469-74457469
7 KCNE3 NM_005472.4(KCNE3):c.120C>G (p.Asp40Glu) SNV Uncertain significance 538115 rs141880803 GRCh37: 11:74168489-74168489
GRCh38: 11:74457444-74457444
8 KCNE3 NM_005472.4(KCNE3):c.175A>C (p.Met59Leu) SNV Uncertain significance 538116 rs1555108630 GRCh37: 11:74168434-74168434
GRCh38: 11:74457389-74457389
9 KCNE3 NM_005472.4(KCNE3):c.262C>T (p.Arg88Cys) SNV Uncertain significance 538117 rs763157740 GRCh37: 11:74168347-74168347
GRCh38: 11:74457302-74457302
10 KCNE3 NM_005472.4(KCNE3):c.310T>C (p.Ter104Gln) SNV Uncertain significance 538118 rs141695803 GRCh37: 11:74168299-74168299
GRCh38: 11:74457254-74457254
11 KCNE3 NM_005472.4(KCNE3):c.67G>C (p.Ala23Pro) SNV Uncertain significance 571438 rs759641427 GRCh37: 11:74168542-74168542
GRCh38: 11:74457497-74457497
12 KCNE3 NM_005472.4(KCNE3):c.263G>A (p.Arg88His) SNV Uncertain significance 190801 rs17221833 GRCh37: 11:74168346-74168346
GRCh38: 11:74457301-74457301
13 KCNE3 NM_005472.4(KCNE3):c.49G>A (p.Val17Met) SNV Uncertain significance 658553 rs773287275 GRCh37: 11:74168560-74168560
GRCh38: 11:74457515-74457515
14 KCNE3 NM_005472.5(KCNE3):c.279T>A (p.His93Gln) SNV Uncertain significance 843374 GRCh37: 11:74168330-74168330
GRCh38: 11:74457285-74457285
15 KCNE3 NM_005472.4(KCNE3):c.26C>T (p.Thr9Ile) SNV Uncertain significance 264211 rs139040374 GRCh37: 11:74168583-74168583
GRCh38: 11:74457538-74457538
16 KCNE3 NM_005472.5(KCNE3):c.158G>A (p.Arg53His) SNV Uncertain significance 402993 rs565287436 GRCh37: 11:74168451-74168451
GRCh38: 11:74457406-74457406
17 KCNE3 NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) SNV Uncertain significance 402994 rs765329541 GRCh37: 11:74168607-74168607
GRCh38: 11:74457562-74457562
18 KCNE3 NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys) SNV Uncertain significance 972690 GRCh37: 11:74168368-74168368
GRCh38: 11:74457323-74457323
19 KCNE3 NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu) SNV Uncertain significance 1010885 GRCh37: 11:74168496-74168496
GRCh38: 11:74457451-74457451
20 KCNE3 NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg) SNV Uncertain significance 1035425 GRCh37: 11:74168387-74168387
GRCh38: 11:74457342-74457342
21 KCNE3 NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp) SNV Uncertain significance 1041613 GRCh37: 11:74168515-74168515
GRCh38: 11:74457470-74457470
22 KCNE3 NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly) SNV Uncertain significance 1053155 GRCh37: 11:74168574-74168574
GRCh38: 11:74457529-74457529
23 KCNE3 NM_005472.4(KCNE3):c.116C>G (p.Pro39Arg) SNV Uncertain significance 582464 rs34604640 GRCh37: 11:74168493-74168493
GRCh38: 11:74457448-74457448
24 KCNE3 NM_005472.4(KCNE3):c.228C>T (p.Ile76=) SNV Benign 698783 rs17221826 GRCh37: 11:74168381-74168381
GRCh38: 11:74457336-74457336
25 KCNE3 NM_005472.4(KCNE3):c.198T>C (p.Phe66=) SNV Benign 259778 rs2270676 GRCh37: 11:74168411-74168411
GRCh38: 11:74457366-74457366

Expression for Brugada Syndrome 6

Search GEO for disease gene expression data for Brugada Syndrome 6.

Pathways for Brugada Syndrome 6

GO Terms for Brugada Syndrome 6

Biological processes related to Brugada Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.26 SCN5A KCNE3
2 regulation of heart rate by cardiac conduction GO:0086091 9.16 SCN5A KCNE3
3 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 8.96 SCN5A KCNE3
4 ventricular cardiac muscle cell action potential GO:0086005 8.62 SCN5A KCNE3

Molecular functions related to Brugada Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.96 SCN5A KCNE3
2 ion channel binding GO:0044325 8.62 SCN5A KCNE3

Sources for Brugada Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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