BRGDA7
MCID: BRG009
MIFTS: 26

Brugada Syndrome 7 (BRGDA7)

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

Aliases & Classifications for Brugada Syndrome 7

MalaCards integrated aliases for Brugada Syndrome 7:

Name: Brugada Syndrome 7 57 12 74 29 13 6 72
Atrial Fibrillation, Familial, 16 57 74 29 6
Brgda7 57 12 74
Brugada Syndrome, Type 7 40
Atfb16 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brugada syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110224
ICD10 33 I49.8
UMLS 72 C2751088

Summaries for Brugada Syndrome 7

UniProtKB/Swiss-Prot : 74 Atrial fibrillation, familial, 16: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Brugada syndrome 7: 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.

MalaCards based summary : Brugada Syndrome 7, also known as atrial fibrillation, familial, 16, is related to brugada syndrome. An important gene associated with Brugada Syndrome 7 is SCN3B (Sodium Voltage-Gated Channel Beta Subunit 3). Affiliated tissues include heart, and related phenotypes are st segment elevation and atrial flutter

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24.

More information from OMIM: 613120 PS601144 PS608583

Related Diseases for Brugada Syndrome 7

Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

Diseases related to Brugada Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 9.2 SCN3B LOC105369543

Symptoms & Phenotypes for Brugada Syndrome 7

Human phenotypes related to Brugada Syndrome 7:

32
# Description HPO Frequency HPO Source Accession
1 st segment elevation 32 HP:0012251
2 atrial flutter 32 HP:0004749

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
brugada pattern on electrocardiography (in some patients)
atrial fibrillation, paroxysmal or persistent (in some patients)
atrial flutter (in some patients)

Clinical features from OMIM:

613120

Drugs & Therapeutics for Brugada Syndrome 7

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 7

Genetic Tests for Brugada Syndrome 7

Genetic tests related to Brugada Syndrome 7:

# Genetic test Affiliating Genes
1 Brugada Syndrome 7 29 SCN3B
2 Atrial Fibrillation, Familial, 16 29

Anatomical Context for Brugada Syndrome 7

MalaCards organs/tissues related to Brugada Syndrome 7:

41
Heart

Publications for Brugada Syndrome 7

Articles related to Brugada Syndrome 7:

# Title Authors PMID Year
1
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. 8 71
21051419 2011
2
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. 8 71
20558140 2010
3
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 8 71
20031595 2009
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
5
Brugada Syndrome 71
20301690 2005
6
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
7
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. 38
30403391 2018
8
Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience. 38
28912206 2017

Variations for Brugada Syndrome 7

ClinVar genetic disease variations for Brugada Syndrome 7:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN3B NM_018400.3(SCN3B): c.482T> C (p.Met161Thr) single nucleotide variant Pathogenic rs587777557 11:123508996-123508996 11:123638288-123638288
2 SCN3B NM_018400.3(SCN3B): c.17G> A (p.Arg6Lys) single nucleotide variant Pathogenic rs587777558 11:123524493-123524493 11:123653785-123653785
3 SCN3B NM_018400.3(SCN3B): c.328G> A (p.Val110Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147205617 11:123513271-123513271 11:123642563-123642563
4 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 11:123524481-123524481 11:123653773-123653773
5 SCN3B NM_018400.3(SCN3B): c.632T> G (p.Val211Gly) single nucleotide variant Uncertain significance 11:123504867-123504867 11:123634159-123634159
6 SCN3B NM_018400.3(SCN3B): c.98C> T (p.Thr33Met) single nucleotide variant Uncertain significance 11:123516416-123516416 11:123645708-123645708
7 SCN3B NM_018400.3(SCN3B): c.583G> A (p.Ala195Thr) single nucleotide variant Uncertain significance 11:123508895-123508895 11:123638187-123638187
8 SCN3B NM_018400.3(SCN3B): c.395G> A (p.Arg132Gln) single nucleotide variant Uncertain significance 11:123513204-123513204 11:123642496-123642496
9 SCN3B NM_018400.3(SCN3B): c.394C> T (p.Arg132Trp) single nucleotide variant Uncertain significance 11:123513205-123513205 11:123642497-123642497
10 SCN3B NM_018400.3(SCN3B): c.389C> T (p.Ala130Val) single nucleotide variant Uncertain significance rs587777556 11:123513210-123513210 11:123642502-123642502
11 SCN3B NM_018400.3(SCN3B): c.105C> T (p.Ala35=) single nucleotide variant Likely benign rs368979661 11:123516409-123516409 11:123645701-123645701
12 SCN3B NM_018400.3(SCN3B): c.327C> T (p.Asn109=) single nucleotide variant Likely benign rs199937307 11:123513272-123513272 11:123642564-123642564
13 SCN3B NM_018400.3(SCN3B): c.390G> A (p.Ala130=) single nucleotide variant Benign/Likely benign rs148484744 11:123513209-123513209 11:123642501-123642501
14 SCN3B NM_018400.3(SCN3B): c.198C> T (p.Pro66=) single nucleotide variant Benign/Likely benign rs115752338 11:123516316-123516316 11:123645608-123645608
15 SCN3B NM_018400.3(SCN3B): c.582C> T (p.Asn194=) single nucleotide variant Benign/Likely benign rs34964168 11:123508896-123508896 11:123638188-123638188
16 SCN3B NM_018400.3(SCN3B): c.249G> A (p.Glu83=) single nucleotide variant Benign rs199974089 11:123513350-123513350 11:123642642-123642642

UniProtKB/Swiss-Prot genetic disease variations for Brugada Syndrome 7:

74
# Symbol AA change Variation ID SNP ID
1 SCN3B p.Arg6Lys VAR_071314 rs587777558
2 SCN3B p.Ala130Val VAR_071315 rs587777556
3 SCN3B p.Met161Thr VAR_071316 rs587777557

Expression for Brugada Syndrome 7

Search GEO for disease gene expression data for Brugada Syndrome 7.

Pathways for Brugada Syndrome 7

GO Terms for Brugada Syndrome 7

Sources for Brugada Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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