BRGDA9
MCID: BRG012
MIFTS: 24

Brugada Syndrome 9 (BRGDA9)

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

Aliases & Classifications for Brugada Syndrome 9

MalaCards integrated aliases for Brugada Syndrome 9:

Name: Brugada Syndrome 9 57 12 74 29 6
Brgda9 57 12 74
Brugada Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brugada syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110226
MeSH 44 D053840
ICD10 33 I49.8

Summaries for Brugada Syndrome 9

OMIM : 57 Brugada syndrome is characterized by 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 discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144). (616399)

MalaCards based summary : Brugada Syndrome 9, also known as brgda9, is related to familial atrial fibrillation and spinocerebellar ataxia 19. An important gene associated with Brugada Syndrome 9 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3). Affiliated tissues include heart, and related phenotypes are palpitations and st segment elevation

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13.

UniProtKB/Swiss-Prot : 74 Brugada syndrome 9: 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 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial atrial fibrillation 9.2 LOC107986633 LAMA4
2 spinocerebellar ataxia 19 8.8 LOC107986633 LAMA4 KCND3

Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

32
# Description HPO Frequency HPO Source Accession
1 palpitations 32 HP:0001962
2 st segment elevation 32 HP:0012251
3 presyncope 32 HP:0031972

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
palpitations
syncope or presyncope
sudden unexplained death
st segment elevation over precordial leads on ecg

Laboratory Abnormalities:
flecainide administration unmasks a coved-type (type 1) ecg pattern

Clinical features from OMIM:

616399

Drugs & Therapeutics for Brugada Syndrome 9

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 9

Genetic Tests for Brugada Syndrome 9

Genetic tests related to Brugada Syndrome 9:

# Genetic test Affiliating Genes
1 Brugada Syndrome 9 29 KCND3

Anatomical Context for Brugada Syndrome 9

MalaCards organs/tissues related to Brugada Syndrome 9:

41
Heart

Publications for Brugada Syndrome 9

Articles related to Brugada Syndrome 9:

# Title Authors PMID Year
1
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 8 71
22457051 2012
2
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 8 71
21349352 2011
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
4
Brugada Syndrome 71
20301690 2005
5
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 8
15655131 2005
6
Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. 38
20877689 2010

Variations for Brugada Syndrome 9

ClinVar genetic disease variations for Brugada Syndrome 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 1:112323335-112323335 1:111780713-111780713
2 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 1:112329661-112329661 1:111787039-111787039
3 KCND3 NM_004980.4(KCND3): c.1798G> A (p.Gly600Arg) single nucleotide variant Uncertain significance rs149344567 1:112318869-112318869 1:111776247-111776247
4 KCND3 NM_004980.4(KCND3): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs199637120 1:112323313-112323313 1:111780691-111780691
5 LAMA4 NM_002290.5(LAMA4): c.3721A> G (p.Ile1241Val) single nucleotide variant Uncertain significance rs547323858 6:112454047-112454047 6:112132845-112132845
6 KCND3 NM_004980.4(KCND3): c.1756C> G (p.Leu586Val) single nucleotide variant Uncertain significance rs778053688 1:112319658-112319658 1:111777036-111777036

Expression for Brugada Syndrome 9

Search GEO for disease gene expression data for Brugada Syndrome 9.

Pathways for Brugada Syndrome 9

GO Terms for Brugada Syndrome 9

Sources for Brugada Syndrome 9

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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