BRGDA6
MCID: BRG008
MIFTS: 17

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 75 29 13 6 73
Brgda6 57 12 75
Brugada Syndrome, Type 6 40

Characteristics:

HPO:

32
brugada syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613119
Disease Ontology 12 DOID:0110223
ICD10 33 I49.8
MedGen 42 C2751089
MeSH 44 D053840
UMLS 73 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)

MalaCards based summary : Brugada Syndrome 6, is also known as brgda6. An important gene associated with Brugada Syndrome 6 is KCNE3 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3). Affiliated tissues include heart, 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 : 75 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

Symptoms & Phenotypes for Brugada Syndrome 6

Clinical features from OMIM:

613119

Human phenotypes related to Brugada Syndrome 6:

32
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 32 HP:0001695
2 ventricular fibrillation 32 HP:0001663
3 st segment elevation 32 HP:0012251

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:

41
Heart

Publications for Brugada Syndrome 6

Variations for Brugada Syndrome 6

ClinVar genetic disease variations for Brugada Syndrome 6:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh37 Chromosome 11, 74168361: 74168361
2 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh38 Chromosome 11, 74457316: 74457316
3 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh37 Chromosome 11, 74168313: 74168313
4 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh38 Chromosome 11, 74457268: 74457268
5 KCNE3 NM_005472.4(KCNE3): c.10A> G (p.Thr4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200856070 GRCh38 Chromosome 11, 74457554: 74457554
6 KCNE3 NM_005472.4(KCNE3): c.10A> G (p.Thr4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200856070 GRCh37 Chromosome 11, 74168599: 74168599
7 KCNE3 NM_005472.4(KCNE3): c.20C> T (p.Thr7Met) single nucleotide variant Uncertain significance rs547194943 GRCh38 Chromosome 11, 74457544: 74457544
8 KCNE3 NM_005472.4(KCNE3): c.20C> T (p.Thr7Met) single nucleotide variant Uncertain significance rs547194943 GRCh37 Chromosome 11, 74168589: 74168589
9 KCNE3 NM_005472.4(KCNE3): c.95G> A (p.Arg32Gln) single nucleotide variant Uncertain significance rs745645715 GRCh38 Chromosome 11, 74457469: 74457469
10 KCNE3 NM_005472.4(KCNE3): c.95G> A (p.Arg32Gln) single nucleotide variant Uncertain significance rs745645715 GRCh37 Chromosome 11, 74168514: 74168514
11 KCNE3 NM_005472.4(KCNE3): c.310T> C (p.Ter104Gln) single nucleotide variant Uncertain significance rs141695803 GRCh38 Chromosome 11, 74457254: 74457254
12 KCNE3 NM_005472.4(KCNE3): c.310T> C (p.Ter104Gln) single nucleotide variant Uncertain significance rs141695803 GRCh37 Chromosome 11, 74168299: 74168299
13 KCNE3 NM_005472.4(KCNE3): c.262C> T (p.Arg88Cys) single nucleotide variant Uncertain significance rs763157740 GRCh38 Chromosome 11, 74457302: 74457302
14 KCNE3 NM_005472.4(KCNE3): c.262C> T (p.Arg88Cys) single nucleotide variant Uncertain significance rs763157740 GRCh37 Chromosome 11, 74168347: 74168347
15 KCNE3 NM_005472.4(KCNE3): c.120C> G (p.Asp40Glu) single nucleotide variant Uncertain significance rs141880803 GRCh38 Chromosome 11, 74457444: 74457444
16 KCNE3 NM_005472.4(KCNE3): c.120C> G (p.Asp40Glu) single nucleotide variant Uncertain significance rs141880803 GRCh37 Chromosome 11, 74168489: 74168489
17 KCNE3 NM_005472.4(KCNE3): c.175A> C (p.Met59Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 74168434: 74168434
18 KCNE3 NM_005472.4(KCNE3): c.175A> C (p.Met59Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 74457389: 74457389
19 KCNE3 NM_005472.4(KCNE3): c.116C> G (p.Pro39Arg) single nucleotide variant Uncertain significance rs34604640 GRCh37 Chromosome 11, 74168493: 74168493
20 KCNE3 NM_005472.4(KCNE3): c.116C> G (p.Pro39Arg) single nucleotide variant Uncertain significance rs34604640 GRCh38 Chromosome 11, 74457448: 74457448
21 KCNE3 NM_005472.4(KCNE3): c.67G> C (p.Ala23Pro) single nucleotide variant Uncertain significance rs759641427 GRCh37 Chromosome 11, 74168542: 74168542
22 KCNE3 NM_005472.4(KCNE3): c.67G> C (p.Ala23Pro) single nucleotide variant Uncertain significance rs759641427 GRCh38 Chromosome 11, 74457497: 74457497

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

Sources for Brugada Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....