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 58 12 76 30 13 6 74
Brgda6 58 12 76
Brugada Syndrome, Type 6 41

Characteristics:

HPO:

33
brugada syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110223
OMIM 58 613119
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2751089
UMLS 74 C2751089

Summaries for Brugada Syndrome 6

OMIM : 58 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 : 76 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

Human phenotypes related to Brugada Syndrome 6:

33
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 33 HP:0001695
2 ventricular fibrillation 33 HP:0001663
3 st segment elevation 33 HP:0012251

Clinical features from OMIM:

613119

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 30 KCNE3

Anatomical Context for Brugada Syndrome 6

MalaCards organs/tissues related to Brugada Syndrome 6:

42
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.20C> T (p.Thr7Met) single nucleotide variant Uncertain significance rs547194943 GRCh38 Chromosome 11, 74457544: 74457544
2 KCNE3 NM_005472.4(KCNE3): c.20C> T (p.Thr7Met) single nucleotide variant Uncertain significance rs547194943 GRCh37 Chromosome 11, 74168589: 74168589
3 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh37 Chromosome 11, 74168361: 74168361
4 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh38 Chromosome 11, 74457316: 74457316
5 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh37 Chromosome 11, 74168313: 74168313
6 KCNE3 NM_005472.4(KCNE3): c.296G> A (p.Arg99His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908441 GRCh38 Chromosome 11, 74457268: 74457268
7 KCNE3 NM_005472.4(KCNE3): c.10A> G (p.Thr4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200856070 GRCh38 Chromosome 11, 74457554: 74457554
8 KCNE3 NM_005472.4(KCNE3): c.10A> G (p.Thr4Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200856070 GRCh37 Chromosome 11, 74168599: 74168599
9 KCNE3 NM_005472.4(KCNE3): c.95G> A (p.Arg32Gln) single nucleotide variant Uncertain significance rs745645715 GRCh37 Chromosome 11, 74168514: 74168514
10 KCNE3 NM_005472.4(KCNE3): c.95G> A (p.Arg32Gln) single nucleotide variant Uncertain significance rs745645715 GRCh38 Chromosome 11, 74457469: 74457469
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 GRCh37 Chromosome 11, 74168347: 74168347
14 KCNE3 NM_005472.4(KCNE3): c.262C> T (p.Arg88Cys) single nucleotide variant Uncertain significance rs763157740 GRCh38 Chromosome 11, 74457302: 74457302
15 KCNE3 NM_005472.4(KCNE3): c.120C> G (p.Asp40Glu) single nucleotide variant Uncertain significance rs141880803 GRCh37 Chromosome 11, 74168489: 74168489
16 KCNE3 NM_005472.4(KCNE3): c.120C> G (p.Asp40Glu) single nucleotide variant Uncertain significance rs141880803 GRCh38 Chromosome 11, 74457444: 74457444
17 KCNE3 NM_005472.4(KCNE3): c.175A> C (p.Met59Leu) single nucleotide variant Uncertain significance rs1555108630 GRCh37 Chromosome 11, 74168434: 74168434
18 KCNE3 NM_005472.4(KCNE3): c.175A> C (p.Met59Leu) single nucleotide variant Uncertain significance rs1555108630 GRCh38 Chromosome 11, 74457389: 74457389
19 KCNE3 NM_005472.4(KCNE3): c.116C> G (p.Pro39Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 74457448: 74457448
20 KCNE3 NM_005472.4(KCNE3): c.116C> G (p.Pro39Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 74168493: 74168493
21 KCNE3 NM_005472.4(KCNE3): c.67G> C (p.Ala23Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 74168542: 74168542
22 KCNE3 NM_005472.4(KCNE3): c.67G> C (p.Ala23Pro) single nucleotide variant Uncertain significance 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

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