BRGDA9
MCID: BRG012
MIFTS: 33

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
Brugada Syndrome, 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 19 and brugada syndrome 5. An important gene associated with Brugada Syndrome 9 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3), and among its related pathways/superpathways is Antiarrhythmic Pathway, Pharmacodynamics. 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:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 19 10.3 LAMA4 KCND3
2 brugada syndrome 5 10.1 SCN5A KCND3
3 progressive familial heart block, type ia 10.1 SCN5A MYBPC3
4 cardiac conduction defect 10.1 SCN5A MYBPC3
5 left bundle branch hemiblock 10.0 SCN5A MYBPC3
6 right bundle branch block 10.0 SCN5A KCND3
7 cardiomyopathy, dilated, 1b 10.0 SCN5A MYBPC3
8 myasthenic syndrome, congenital, 5 10.0 SCN5A KCND3
9 ebstein anomaly 10.0 SCN5A MYBPC3
10 spastic paraplegia 75, autosomal recessive 9.9 MTPAP ANO10
11 long qt syndrome 2 9.9 SCN5A KCND3
12 short qt syndrome 9.9 SCN5A KCND3
13 familial isolated dilated cardiomyopathy 9.9 SCN5A MYBPC3 LAMA4
14 familial atrial fibrillation 9.9 SCN5A LAMA4 KCND3
15 long qt syndrome 1 9.9 SCN5A MYBPC3 KCND3
16 long qt syndrome 9.9 SCN5A MYBPC3 KCND3
17 autosomal dominant cerebellar ataxia 9.8 KCND3 ATXN7 ANO10
18 left ventricular noncompaction 9.8 SCN5A MYBPC3 LAMA4
19 aceruloplasminemia 9.7 KCND3 ATXN7 ANO10
20 catecholaminergic polymorphic ventricular tachycardia 9.7 SCN5A MYBPC3 LAMA4 KCND3
21 atrial fibrillation 9.7 SCN5A MYBPC3 LAMA4 KCND3
22 heart conduction disease 9.7 SCN5A KCND3
23 spastic ataxia 9.5 MTPAP KIF1C
24 brugada syndrome 9.4 SCN5A MYBPC3 LAMA4 KCND3 DLG1

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

MGI Mouse Phenotypes related to Brugada Syndrome 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ATXN7 DLG1 GOSR2 KCND3 LAMA4 MTPAP
2 muscle MP:0005369 9.02 ATXN7 DLG1 LAMA4 MYBPC3 SCN5A

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 KCND3 NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe)SNV Conflicting interpretations of pathogenicity 192253 rs150401343 1:112323335-112323335 1:111780713-111780713
2 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile)SNV Conflicting interpretations of pathogenicity 192255 rs786205867 1:112329661-112329661 1:111787039-111787039
3 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845
4 KCND3 NM_004980.4(KCND3):c.1756C>G (p.Leu586Val)SNV Uncertain significance 519297 rs778053688 1:112319658-112319658 1:111777036-111777036
5 KCND3 NM_004980.4(KCND3):c.1370C>T (p.Thr457Met)SNV Uncertain significance 432538 rs199637120 1:112323313-112323313 1:111780691-111780691
6 KCND3 NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg)SNV Uncertain significance 192254 rs149344567 1:112318869-112318869 1:111776247-111776247

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 10.37 SCN5A KCND3

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 lateral plasma membrane GO:0016328 9.16 SCN5A DLG1
2 intercalated disc GO:0014704 8.96 SCN5A DLG1
3 sarcolemma GO:0042383 8.8 SCN5A KCND3 DLG1

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

# Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.26 SCN5A KCND3
2 cardiac muscle contraction GO:0060048 9.16 SCN5A MYBPC3
3 regulation of heart rate by cardiac conduction GO:0086091 8.96 SCN5A KCND3
4 regulation of sodium ion transmembrane transport GO:1902305 8.62 SCN5A DLG1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.8 SCN5A KCND3 DLG1

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
Content
Loading form....