Brugada Syndrome 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Brugada Syndrome 9

MalaCards integrated aliases for Brugada Syndrome 9:

Name: Brugada Syndrome 9 ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶

Brgda9 ⁵⁷ ¹² ⁷⁴

Brugada Syndrome, Type 9 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

brugada syndrome 9:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other cardiac arrhythmias

Other specified cardiac arrhythmias

External Ids:

Disease Ontology ¹² DOID:0110226

OMIM ⁵⁷ 616399 PS601144

MeSH ⁴⁴ D053840

ICD10 ³³ I49.8

MedGen ⁴² C4225340 CN231147

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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 : ⁷⁴ 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.

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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	9.2	LOC107986633 LAMA4
2	spinocerebellar ataxia 19	8.8	LOC107986633 LAMA4 KCND3

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Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

³²

#	Description	HPO Source Accession
1	palpitations ³²	HP:0001962
2	st segment elevation ³²	HP:0012251
3	presyncope ³²	HP:0031972

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

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Drugs & Therapeutics for Brugada Syndrome 9

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 9

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Genetic Tests for Brugada Syndrome 9

Genetic tests related to Brugada Syndrome 9:

#	Genetic test	Affiliating Genes
1	Brugada Syndrome 9 ²⁹	KCND3

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Anatomical Context for Brugada Syndrome 9

MalaCards organs/tissues related to Brugada Syndrome 9:

⁴¹

Heart

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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. ⁸ ⁷¹	Giudicessi JR...Ackerman MJ	22457051	2012
2	Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. ⁸ ⁷¹	Giudicessi JR...Ackerman MJ	21349352	2011
3	Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ⁷¹	Priori SG...Asia Pacific Heart Rhythm Society	23994779	2013
4	Brugada Syndrome ⁷¹	Brugada R...Hong K	20301690	2005
5	Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. ⁸	Antzelevitch C...Wilde A	15655131	2005
6	Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. ³⁸	Liang P...Hu D	20877689	2010

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Genes for Brugada Syndrome 9

Genes related to Brugada Syndrome 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	627.76	Molecular basis known ⁵⁷ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	17.27	GeneCards inferred via : Variants (show sections)
3	LOC107986633	Uncharacterized LOC107986633	RNA Gene	7.27	GeneCards inferred via : Variants (show sections)

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Variations for Brugada Syndrome 9

ClinVar genetic disease variations for Brugada Syndrome 9:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	KCND3	NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150401343	1:112323335-112323335	1:111780713-111780713
2	KCND3	NM_004980.4(KCND3): c.1174G> A (p.Val392Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786205867	1:112329661-112329661	1:111787039-111787039
3	KCND3	NM_004980.4(KCND3): c.1798G> A (p.Gly600Arg)	single nucleotide variant	Uncertain significance	rs149344567	1:112318869-112318869	1:111776247-111776247
4	KCND3	NM_004980.4(KCND3): c.1370C> T (p.Thr457Met)	single nucleotide variant	Uncertain significance	rs199637120	1:112323313-112323313	1:111780691-111780691
5	LAMA4	NM_002290.5(LAMA4): c.3721A> G (p.Ile1241Val)	single nucleotide variant	Uncertain significance	rs547323858	6:112454047-112454047	6:112132845-112132845
6	KCND3	NM_004980.4(KCND3): c.1756C> G (p.Leu586Val)	single nucleotide variant	Uncertain significance	rs778053688	1:112319658-112319658	1:111777036-111777036

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Expression for Brugada Syndrome 9

Search GEO for disease gene expression data for Brugada Syndrome 9.

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Pathways for Brugada Syndrome 9

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GO Terms for Brugada Syndrome 9

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Brugada Syndrome 9 (BRGDA9)

Aliases & Classifications for Brugada Syndrome 9

MalaCards integrated aliases for Brugada Syndrome 9:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Brugada Syndrome 9

Related Diseases for Brugada Syndrome 9

Diseases in the Brugada Syndrome family:

Diseases related to Brugada Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Brugada Syndrome 9

Genetic Tests for Brugada Syndrome 9

Genetic tests related to Brugada Syndrome 9:

Anatomical Context for Brugada Syndrome 9

MalaCards organs/tissues related to Brugada Syndrome 9:

Publications for Brugada Syndrome 9

Articles related to Brugada Syndrome 9:

Genes for Brugada Syndrome 9

Genes related to Brugada Syndrome 9 (1 elite genes):

Variations for Brugada Syndrome 9

ClinVar genetic disease variations for Brugada Syndrome 9:

Expression for Brugada Syndrome 9

Pathways for Brugada Syndrome 9

GO Terms for Brugada Syndrome 9

Sources for Brugada Syndrome 9