BRGDA9
MCID: BRG012
MIFTS: 31

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 56 12 73 29 6 15
Brgda9 56 12 73
Syndrome, Brugada, Type 9 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brugada syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110226
OMIM 56 616399
OMIM Phenotypic Series 56 PS601144
MeSH 43 D053840
ICD10 32 I49.8

Summaries for Brugada Syndrome 9

OMIM : 56 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 spinocerebellar ataxia type 19/22 and brugada syndrome. An important gene associated with Brugada Syndrome 9 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3), and among its related pathways/superpathways are Cell cycle_Spindle assembly and chromosome separation and Signal transduction_PKA signaling. 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 : 73 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 spinocerebellar ataxia type 19/22 9.9 LAMA4 KCND3
2 brugada syndrome 9.6 LAMA4 KCND3 DLG1
3 cleft lip/palate 9.5 DLG1 CEP120
4 lipoid proteinosis of urbach and wiethe 9.3 ECM1 DYNC1I1 CEP120
5 joubert syndrome 31 8.2 GABRB2 FAF1 ECM1 DYNC1I1 CEP120 ANAPC4

Graphical network of the top 20 diseases related to Brugada Syndrome 9:



Diseases related to Brugada Syndrome 9

Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

31
# Description HPO Frequency HPO Source Accession
1 palpitations 31 HP:0001962
2 st segment elevation 31 HP:0012251
3 presyncope 31 HP:0031972

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in HCT116 cells GR00103-A-0 8.32 ANAPC4

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:

40
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. 56 6
22457051 2012
2
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 56 6
21349352 2011
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
4
Brugada Syndrome 6
20301690 2005
5
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 56
15655131 2005
6
Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. 61
20877689 2010

Variations for Brugada Syndrome 9

ClinVar genetic disease variations for Brugada Syndrome 9:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845
2 KCND3 NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe)SNV Conflicting interpretations of pathogenicity 192253 rs150401343 1:112323335-112323335 1:111780713-111780713
3 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile)SNV Conflicting interpretations of pathogenicity 192255 rs786205867 1:112329661-112329661 1:111787039-111787039
4 KCND3 NM_004980.4(KCND3):c.1370C>T (p.Thr457Met)SNV Uncertain significance 432538 rs199637120 1:112323313-112323313 1:111780691-111780691
5 KCND3 NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg)SNV Uncertain significance 192254 rs149344567 1:112318869-112318869 1:111776247-111776247
6 KCND3 NM_004980.4(KCND3):c.1756C>G (p.Leu586Val)SNV Uncertain significance 519297 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

Pathways related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 DYNC1I1 ANAPC4
2 10.56 GABRB2 ANAPC4

GO Terms for Brugada Syndrome 9

Cellular components related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.26 LAMA4 DLG1
2 neuromuscular junction GO:0031594 9.16 LAMA4 DLG1
3 GABA-ergic synapse GO:0098982 8.96 KCND3 GABRB2
4 integral component of postsynaptic specialization membrane GO:0099060 8.62 KCND3 GABRB2

Biological processes related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell adhesion GO:0030155 8.96 LAMA4 FAF1
2 astral microtubule organization GO:0030953 8.62 DLG1 CEP120

Molecular functions related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.8 ECM1 DLG1 CEP120

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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