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 57 12 75 29 6
Brgda9 57 12 75
Brugada Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brugada syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616399
Disease Ontology 12 DOID:0110226
ICD10 33 I49.8
MeSH 44 D053840

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 : 75 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 9.7 LAMA4 LOC107986633
2 spinocerebellar ataxia 19 9.5 KCND3 LAMA4 LOC107986633

Symptoms & Phenotypes for Brugada Syndrome 9

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

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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