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 56 12 73 29 13 6 15 71
Brgda6 56 12 73
Brugada Syndrome, Type 6 39

Characteristics:

HPO:

31
brugada syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110223
OMIM 56 613119
OMIM Phenotypic Series 56 PS601144
MeSH 43 D053840
ICD10 32 I49.8
MedGen 41 C2751089
UMLS 71 C2751089

Summaries for Brugada Syndrome 6

OMIM : 56 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)

MalaCards based summary : Brugada Syndrome 6, also known as brgda6, is related to encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities and familial periodic paralysis. 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 Phase 0 - rapid depolarisation and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include heart and brain, and related phenotypes are cardiac arrest and ventricular fibrillation

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

UniProtKB/Swiss-Prot : 73 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 cardiac arrest 31 HP:0001695
2 ventricular fibrillation 31 HP:0001663
3 st segment elevation 31 HP:0012251

Clinical features from OMIM:

613119

GenomeRNAi Phenotypes related to Brugada Syndrome 6 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.4 SCN5A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.4 SCN5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.4 MPG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.4 MPG SCN5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.4 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 SCN5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.4 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.4 SCN5A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.4 MPG

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. 56 6
19122847 2008
2
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
3
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. 6
19306396 2009
4
Brugada Syndrome 6
20301690 2005
5
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
6
A case of Brugada syndrome which developed status epilepticus. 61
27890882 2016
7
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE3 , LIPT2 NM_005472.4(KCNE3):c.248G>A (p.Arg83His)SNV Conflicting interpretations of pathogenicity 5541 rs17215437 11:74168361-74168361 11:74457316-74457316
2 KCNE3 NM_005472.4(KCNE3):c.296G>A (p.Arg99His)SNV Conflicting interpretations of pathogenicity 5542 rs121908441 11:74168313-74168313 11:74457268-74457268
3 KCNE3 , LIPT2 NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala)SNV Conflicting interpretations of pathogenicity 126426 rs200856070 11:74168599-74168599 11:74457554-74457554
4 KCNE3 NM_005472.4(KCNE3):c.95G>A (p.Arg32Gln)SNV Uncertain significance 470686 rs745645715 11:74168514-74168514 11:74457469-74457469
5 KCNE3 NM_005472.4(KCNE3):c.310T>C (p.Ter104Gln)SNV Uncertain significance 538118 rs141695803 11:74168299-74168299 11:74457254-74457254
6 KCNE3 NM_005472.4(KCNE3):c.262C>T (p.Arg88Cys)SNV Uncertain significance 538117 rs763157740 11:74168347-74168347 11:74457302-74457302
7 KCNE3 NM_005472.4(KCNE3):c.120C>G (p.Asp40Glu)SNV Uncertain significance 538115 rs141880803 11:74168489-74168489 11:74457444-74457444
8 KCNE3 NM_005472.4(KCNE3):c.175A>C (p.Met59Leu)SNV Uncertain significance 538116 rs1555108630 11:74168434-74168434 11:74457389-74457389
9 KCNE3 NM_005472.4(KCNE3):c.116C>G (p.Pro39Arg)SNV Uncertain significance 582464 rs34604640 11:74168493-74168493 11:74457448-74457448
10 KCNE3 NM_005472.4(KCNE3):c.67G>C (p.Ala23Pro)SNV Uncertain significance 571438 rs759641427 11:74168542-74168542 11:74457497-74457497
11 KCNE3 NM_005472.4(KCNE3):c.49G>A (p.Val17Met)SNV Uncertain significance 658553 11:74168560-74168560 11:74457515-74457515
12 KCNE3 NM_005472.4(KCNE3):c.263G>A (p.Arg88His)SNV Uncertain significance 190801 rs17221833 11:74168346-74168346 11:74457301-74457301
13 KCNE3 NM_005472.4(KCNE3):c.20C>T (p.Thr7Met)SNV Uncertain significance 190800 rs547194943 11:74168589-74168589 11:74457544-74457544

Expression for Brugada Syndrome 6

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

Pathways for Brugada Syndrome 6

Pathways related to Brugada Syndrome 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 SCN5A KCNE3
2 10.37 SCN5A KCNE3

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 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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