BRGDA9
MCID: BRG012
MIFTS: 21

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 58 12 76 30 6
Brgda9 58 12 76
Brugada Syndrome, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brugada syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110226
OMIM 58 616399
MeSH 45 D053840
ICD10 34 I49.8

Summaries for Brugada Syndrome 9

OMIM : 58 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 : 76 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 9.5 LAMA4 LOC107986633
2 spinocerebellar ataxia 19 9.3 KCND3 LAMA4 LOC107986633

Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

33
# Description HPO Frequency HPO Source Accession
1 palpitations 33 HP:0001962
2 st segment elevation 33 HP:0012251
3 presyncope 33 HP:0031972

Symptoms via clinical synopsis from OMIM:

58
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 30 KCND3

Anatomical Context for Brugada Syndrome 9

MalaCards organs/tissues related to Brugada Syndrome 9:

42
Heart

Publications for Brugada Syndrome 9

Variations for Brugada Syndrome 9

ClinVar genetic disease variations for Brugada Syndrome 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 GRCh37 Chromosome 1, 112323335: 112323335
2 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 GRCh38 Chromosome 1, 111780713: 111780713
3 KCND3 NM_004980.4(KCND3): c.1798G> A (p.Gly600Arg) single nucleotide variant Uncertain significance rs149344567 GRCh37 Chromosome 1, 112318869: 112318869
4 KCND3 NM_004980.4(KCND3): c.1798G> A (p.Gly600Arg) single nucleotide variant Uncertain significance rs149344567 GRCh38 Chromosome 1, 111776247: 111776247
5 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 GRCh37 Chromosome 1, 112329661: 112329661
6 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 GRCh38 Chromosome 1, 111787039: 111787039
7 KCND3 NM_004980.4(KCND3): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs199637120 GRCh37 Chromosome 1, 112323313: 112323313
8 KCND3 NM_004980.4(KCND3): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs199637120 GRCh38 Chromosome 1, 111780691: 111780691
9 LAMA4 NM_001105206.2(LAMA4): c.3742A> G (p.Ile1248Val) single nucleotide variant Uncertain significance rs547323858 GRCh38 Chromosome 6, 112132845: 112132845
10 LAMA4 NM_001105206.2(LAMA4): c.3742A> G (p.Ile1248Val) single nucleotide variant Uncertain significance rs547323858 GRCh37 Chromosome 6, 112454047: 112454047
11 KCND3 NM_004980.4(KCND3): c.1756C> G (p.Leu586Val) single nucleotide variant Uncertain significance rs778053688 GRCh37 Chromosome 1, 112319658: 112319658
12 KCND3 NM_004980.4(KCND3): c.1756C> G (p.Leu586Val) single nucleotide variant Uncertain significance rs778053688 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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