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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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 ⁵⁸ 616399

MeSH ⁴⁵ D053840

ICD10 ³⁴ I49.8

MedGen ⁴³ C4225340 CN231147

SNOMED-CT via HPO ⁷⁰ 164931005 263681008 76388001 more

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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.

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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	9.5	LAMA4 LOC107986633
2	spinocerebellar ataxia 19	9.3	KCND3 LAMA4 LOC107986633

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Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

³³

#	Description	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

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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 ³⁰	KCND3

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Anatomical Context for Brugada Syndrome 9

MalaCards organs/tissues related to Brugada Syndrome 9:

⁴²

Heart

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Publications for Brugada Syndrome 9

Articles related to Brugada Syndrome 9:

#	Title	Authors	Year
1	Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. ( 22457051 )	Giudicessi JR...Ackerman MJ	2012
2	Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. ( 21349352 )	Giudicessi JR...Ackerman MJ	2011

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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	627.74	Molecular basis known ⁵⁸ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	17.3	GeneCards inferred via : Variants (show sections)
3	LOC107986633	Uncharacterized LOC107986633	RNA Gene	7.3	GeneCards inferred via : Variants (show sections)

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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

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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