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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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

OMIM Phenotypic Series ⁵⁷ PS601144

MeSH ⁴⁴ D053840

ICD10 ³² I49.8

MedGen ⁴¹ C4225340 CN231147

SNOMED-CT via HPO ⁶⁸ 164931005 263681008 76388001 more

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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) (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.

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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	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:

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Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

³¹

#	Description	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

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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:

⁴⁰

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. ⁶ ⁵⁷	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. ⁶ ⁵⁷	Giudicessi JR...Ackerman MJ	21349352	2011
3	Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. ⁵⁷	Antzelevitch C...Wilde A	15655131	2005
4	Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. ⁶¹	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	PubMed IDs
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	1048.38	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22457051 21349352
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	6.97	GeneCards inferred via : Variants (show sections)
3	DYNC1I1	Dynein Cytoplasmic 1 Intermediate Chain 1	Protein Coding	6.56	DISEASES inferred ¹⁵
4	CEP120	Centrosomal Protein 120	Protein Coding	6.4	DISEASES inferred ¹⁵
5	GABRB2	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2	Protein Coding	6.02	DISEASES inferred ¹⁵
6	FAF1	Fas Associated Factor 1	Protein Coding	5.91	DISEASES inferred ¹⁵
7	MON1B	MON1 Homolog B, Secretory Trafficking Associated	Protein Coding	5.9	DISEASES inferred ¹⁵
8	KNDC1	Kinase Non-Catalytic C-Lobe Domain Containing 1	Protein Coding	5.65	DISEASES inferred ¹⁵
9	DLG1	Discs Large MAGUK Scaffold Protein 1	Protein Coding	5.61	DISEASES inferred ¹⁵

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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

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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

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

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Sources for Brugada Syndrome 9

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⁶⁹ Tocris

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⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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:

Graphical network of the top 20 diseases related to Brugada Syndrome 9:

Symptoms & Phenotypes for Brugada Syndrome 9

Human phenotypes related to Brugada Syndrome 9:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Brugada Syndrome 9:

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

Cellular components related to Brugada Syndrome 9 according to GeneCards Suite gene sharing:

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

Sources for Brugada Syndrome 9