ATFB16
MCID: BRG009
MIFTS: 21

Brugada Syndrome 7 (ATFB16)

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 58 12 76 30 13 6 74
Atrial Fibrillation, Familial, 16 58 76 6
Brgda7 58 12 76
Brugada Syndrome, Type 7 41
Atfb16 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brugada syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110224
OMIM 58 613120
ICD10 34 I49.8
UMLS 74 C2751088

Summaries for Brugada Syndrome 7

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 613120

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 9.5 LOC105369543 SCN3B

Symptoms & Phenotypes for Brugada Syndrome 7

Human phenotypes related to Brugada Syndrome 7:

33
# Description HPO Frequency HPO Source Accession
1 st segment elevation 33 HP:0012251
2 atrial flutter 33 HP:0004749

Symptoms via clinical synopsis from OMIM:

58
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 30 SCN3B

Anatomical Context for Brugada Syndrome 7

MalaCards organs/tissues related to Brugada Syndrome 7:

42
Heart

Publications for Brugada Syndrome 7

Articles related to Brugada Syndrome 7:

# Title Authors Year
1
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. ( 21051419 )
2011
2
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. ( 20558140 )
2010
3
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. ( 20031595 )
2009

Variations for Brugada Syndrome 7

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

76
# 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

ClinVar genetic disease variations for Brugada Syndrome 7:

6 (show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 GRCh37 Chromosome 11, 123524481: 123524481
2 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 GRCh38 Chromosome 11, 123653773: 123653773
3 SCN3B NM_018400.3(SCN3B): c.29T> C (p.Leu10Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121918282 NCBI36 Chromosome 11, 123029691: 123029691
4 SCN3B NM_018400.3(SCN3B): c.390G> A (p.Ala130=) single nucleotide variant Benign/Likely benign rs148484744 GRCh38 Chromosome 11, 123642501: 123642501
5 SCN3B NM_018400.3(SCN3B): c.390G> A (p.Ala130=) single nucleotide variant Benign/Likely benign rs148484744 GRCh37 Chromosome 11, 123513209: 123513209
6 SCN3B NM_018400.3(SCN3B): c.389C> T (p.Ala130Val) single nucleotide variant Uncertain significance rs587777556 GRCh38 Chromosome 11, 123642502: 123642502
7 SCN3B NM_018400.3(SCN3B): c.389C> T (p.Ala130Val) single nucleotide variant Uncertain significance rs587777556 GRCh37 Chromosome 11, 123513210: 123513210
8 SCN3B NM_018400.3(SCN3B): c.482T> C (p.Met161Thr) single nucleotide variant Pathogenic rs587777557 GRCh38 Chromosome 11, 123638288: 123638288
9 SCN3B NM_018400.3(SCN3B): c.482T> C (p.Met161Thr) single nucleotide variant Pathogenic rs587777557 GRCh37 Chromosome 11, 123508996: 123508996
10 SCN3B NM_018400.3(SCN3B): c.17G> A (p.Arg6Lys) single nucleotide variant Pathogenic rs587777558 GRCh38 Chromosome 11, 123653785: 123653785
11 SCN3B NM_018400.3(SCN3B): c.17G> A (p.Arg6Lys) single nucleotide variant Pathogenic rs587777558 GRCh37 Chromosome 11, 123524493: 123524493
12 SCN3B NM_018400.3(SCN3B): c.582C> T (p.Asn194=) single nucleotide variant Benign/Likely benign rs34964168 GRCh38 Chromosome 11, 123638188: 123638188
13 SCN3B NM_018400.3(SCN3B): c.582C> T (p.Asn194=) single nucleotide variant Benign/Likely benign rs34964168 GRCh37 Chromosome 11, 123508896: 123508896
14 SCN3B NM_018400.3(SCN3B): c.328G> A (p.Val110Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147205617 GRCh38 Chromosome 11, 123642563: 123642563
15 SCN3B NM_018400.3(SCN3B): c.328G> A (p.Val110Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147205617 GRCh37 Chromosome 11, 123513271: 123513271
16 SCN3B NM_018400.3(SCN3B): c.198C> T (p.Pro66=) single nucleotide variant Benign/Likely benign rs115752338 GRCh38 Chromosome 11, 123645608: 123645608
17 SCN3B NM_018400.3(SCN3B): c.198C> T (p.Pro66=) single nucleotide variant Benign/Likely benign rs115752338 GRCh37 Chromosome 11, 123516316: 123516316
18 SCN3B NM_018400.3(SCN3B): c.105C> T (p.Ala35=) single nucleotide variant Likely benign rs368979661 GRCh38 Chromosome 11, 123645701: 123645701
19 SCN3B NM_018400.3(SCN3B): c.105C> T (p.Ala35=) single nucleotide variant Likely benign rs368979661 GRCh37 Chromosome 11, 123516409: 123516409
20 SCN3B NM_018400.3(SCN3B): c.327C> T (p.Asn109=) single nucleotide variant Likely benign rs199937307 GRCh37 Chromosome 11, 123513272: 123513272
21 SCN3B NM_018400.3(SCN3B): c.327C> T (p.Asn109=) single nucleotide variant Likely benign rs199937307 GRCh38 Chromosome 11, 123642564: 123642564
22 SCN3B NM_018400.3(SCN3B): c.249G> A (p.Glu83=) single nucleotide variant Benign rs199974089 GRCh37 Chromosome 11, 123513350: 123513350
23 SCN3B NM_018400.3(SCN3B): c.249G> A (p.Glu83=) single nucleotide variant Benign rs199974089 GRCh38 Chromosome 11, 123642642: 123642642
24 SCN3B NM_018400.3(SCN3B): c.632T> G (p.Val211Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 123634159: 123634159
25 SCN3B NM_018400.3(SCN3B): c.632T> G (p.Val211Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 123504867: 123504867
26 SCN3B NM_018400.3(SCN3B): c.98C> T (p.Thr33Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 123516416: 123516416
27 SCN3B NM_018400.3(SCN3B): c.98C> T (p.Thr33Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 123645708: 123645708

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
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10 dbSNP
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