BRGDA9
MCID: BRG012
MIFTS: 29

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 72 29 6 15
Brgda9 57 12 72
Syndrome, Brugada, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
brugada syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110226
OMIM® 57 616399
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 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) (Updated 05-Apr-2021)

MalaCards based summary : Brugada Syndrome 9, also known as brgda9, is related to spinocerebellar ataxia type 19/22 and lipoid proteinosis of urbach and wiethe. 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 : 72 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 10.0 LAMA4 KCND3
2 lipoid proteinosis of urbach and wiethe 9.9 DYNC1I1 CEP120
3 brugada syndrome 1 9.9 KCND3 DLG1
4 brugada syndrome 9.8 LAMA4 KCND3 DLG1
5 cleft lip/palate 9.7 DLG1 CEP120
6 joubert syndrome 31 8.7 MON1B KNDC1 GABRB2 FAF1 DYNC1I1 CEP120

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Brugada Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 CEP120 DLG1 FAF1 GABRB2 KCND3 KNDC1

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. 6 57
22457051 2012
2
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. 6 57
21349352 2011
3
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
4
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 Position
1 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) SNV Pathogenic 192255 rs786205867 GRCh37: 1:112329661-112329661
GRCh38: 1:111787039-111787039
2 KCND3 NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) SNV Pathogenic 192254 rs149344567 GRCh37: 1:112318869-112318869
GRCh38: 1:111776247-111776247
3 KCND3 NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) SNV Likely pathogenic 192253 rs150401343 GRCh37: 1:112323335-112323335
GRCh38: 1:111780713-111780713
4 KCND3 NM_004980.4(KCND3):c.1756C>G (p.Leu586Val) SNV Uncertain significance 519297 rs778053688 GRCh37: 1:112319658-112319658
GRCh38: 1:111777036-111777036
5 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) SNV Uncertain significance 488160 rs547323858 GRCh37: 6:112454047-112454047
GRCh38: 6:112132845-112132845
6 KCND3 NM_004980.4(KCND3):c.1370C>T (p.Thr457Met) SNV Uncertain significance 432538 rs199637120 GRCh37: 1:112323313-112323313
GRCh38: 1:111780691-111780691

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

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 membrane potential GO:0042391 9.16 GABRB2 DLG1
2 regulation of cell adhesion GO:0030155 8.96 LAMA4 FAF1
3 astral microtubule organization GO:0030953 8.62 DLG1 CEP120

Sources for Brugada Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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