BRGDA8
MCID: BRG010
MIFTS: 18

Brugada Syndrome 8 (BRGDA8)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 8

MalaCards integrated aliases for Brugada Syndrome 8:

Name: Brugada Syndrome 8 58 12 76 30 13 6 74
Brgda8 58 12 76
Brugada Syndrome, Type 8 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0110225
OMIM 58 613123
MeSH 45 D053840
ICD10 34 I49.8
MedGen 43 C2751083
SNOMED-CT via HPO 70 164931005 25569003 76388001
UMLS 74 C2751083

Summaries for Brugada Syndrome 8

OMIM : 58 Brugada syndrome is characterized by an 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). (613123)

MalaCards based summary : Brugada Syndrome 8, also known as brgda8, is related to brugada syndrome. An important gene associated with Brugada Syndrome 8 is HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4). Affiliated tissues include heart, and related phenotypes are ventricular tachycardia and st segment elevation

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24.

UniProtKB/Swiss-Prot : 76 Brugada syndrome 8: 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 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brugada syndrome 9.5 HCN4 LOC105370890

Symptoms & Phenotypes for Brugada Syndrome 8

Human phenotypes related to Brugada Syndrome 8:

33
# Description HPO Frequency HPO Source Accession
1 ventricular tachycardia 33 HP:0004756
2 st segment elevation 33 HP:0012251

Clinical features from OMIM:

613123

Drugs & Therapeutics for Brugada Syndrome 8

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 8

Genetic Tests for Brugada Syndrome 8

Genetic tests related to Brugada Syndrome 8:

# Genetic test Affiliating Genes
1 Brugada Syndrome 8 30 HCN4

Anatomical Context for Brugada Syndrome 8

MalaCards organs/tissues related to Brugada Syndrome 8:

42
Heart

Publications for Brugada Syndrome 8

Variations for Brugada Syndrome 8

ClinVar genetic disease variations for Brugada Syndrome 8:

6 (show top 50) (show all 436)
# Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1459G> A (p.Val487Met) single nucleotide variant Conflicting interpretations of pathogenicity rs202037304 GRCh37 Chromosome 15, 73622045: 73622045
2 HCN4 NM_005477.2(HCN4): c.1459G> A (p.Val487Met) single nucleotide variant Conflicting interpretations of pathogenicity rs202037304 GRCh38 Chromosome 15, 73329704: 73329704
3 HCN4 NM_005477.2(HCN4): c.3288C> T (p.Asp1096=) single nucleotide variant Benign rs116042117 GRCh37 Chromosome 15, 73615146: 73615146
4 HCN4 NM_005477.2(HCN4): c.3288C> T (p.Asp1096=) single nucleotide variant Benign rs116042117 GRCh38 Chromosome 15, 73322805: 73322805
5 HCN4 NM_005477.2(HCN4): c.2739G> A (p.Ala913=) single nucleotide variant Conflicting interpretations of pathogenicity rs373411041 GRCh38 Chromosome 15, 73323354: 73323354
6 HCN4 NM_005477.2(HCN4): c.2739G> A (p.Ala913=) single nucleotide variant Conflicting interpretations of pathogenicity rs373411041 GRCh37 Chromosome 15, 73615695: 73615695
7 HCN4 NM_005477.2(HCN4): c.621C> G (p.Arg207=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503958 GRCh38 Chromosome 15, 73367650: 73367650
8 HCN4 NM_005477.2(HCN4): c.621C> G (p.Arg207=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503958 GRCh37 Chromosome 15, 73659991: 73659991
9 HCN4 NM_005477.2(HCN4): c.458A> G (p.Glu153Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs560874115 GRCh37 Chromosome 15, 73660154: 73660154
10 HCN4 NM_005477.2(HCN4): c.458A> G (p.Glu153Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs560874115 GRCh38 Chromosome 15, 73367813: 73367813
11 HCN4 NM_005477.2(HCN4): c.3497_3500delCTTT (p.Ser1166Cysfs) deletion Uncertain significance rs774674047 GRCh37 Chromosome 15, 73614934: 73614937
12 HCN4 NM_005477.2(HCN4): c.3497_3500delCTTT (p.Ser1166Cysfs) deletion Uncertain significance rs774674047 GRCh38 Chromosome 15, 73322593: 73322596
13 HCN4 NM_005477.2(HCN4): c.3033T> G (p.Ser1011=) single nucleotide variant Benign rs186728422 GRCh38 Chromosome 15, 73323060: 73323060
14 HCN4 NM_005477.2(HCN4): c.3033T> G (p.Ser1011=) single nucleotide variant Benign rs186728422 GRCh37 Chromosome 15, 73615401: 73615401
15 HCN4 NM_005477.2(HCN4): c.2831C> T (p.Ala944Val) single nucleotide variant Benign rs144450232 GRCh37 Chromosome 15, 73615603: 73615603
16 HCN4 NM_005477.2(HCN4): c.2831C> T (p.Ala944Val) single nucleotide variant Benign rs144450232 GRCh38 Chromosome 15, 73323262: 73323262
17 HCN4 NM_005477.2(HCN4): c.2804C> T (p.Ser935Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs775803239 GRCh37 Chromosome 15, 73615630: 73615630
18 HCN4 NM_005477.2(HCN4): c.2804C> T (p.Ser935Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs775803239 GRCh38 Chromosome 15, 73323289: 73323289
19 HCN4 NM_005477.2(HCN4): c.2800C> T (p.Arg934Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199638465 GRCh38 Chromosome 15, 73323293: 73323293
20 HCN4 NM_005477.2(HCN4): c.2800C> T (p.Arg934Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199638465 GRCh37 Chromosome 15, 73615634: 73615634
21 HCN4 NM_005477.2(HCN4): c.2657C> T (p.Ala886Val) single nucleotide variant Benign/Likely benign rs200575377 GRCh37 Chromosome 15, 73615777: 73615777
22 HCN4 NM_005477.2(HCN4): c.2657C> T (p.Ala886Val) single nucleotide variant Benign/Likely benign rs200575377 GRCh38 Chromosome 15, 73323436: 73323436
23 HCN4 NM_005477.2(HCN4): c.2522C> T (p.Ser841Leu) single nucleotide variant Likely benign rs200546024 GRCh37 Chromosome 15, 73615912: 73615912
24 HCN4 NM_005477.2(HCN4): c.2522C> T (p.Ser841Leu) single nucleotide variant Likely benign rs200546024 GRCh38 Chromosome 15, 73323571: 73323571
25 HCN4 NM_005477.2(HCN4): c.2458G> A (p.Gly820Arg) single nucleotide variant Uncertain significance rs761337460 GRCh37 Chromosome 15, 73615976: 73615976
26 HCN4 NM_005477.2(HCN4): c.2458G> A (p.Gly820Arg) single nucleotide variant Uncertain significance rs761337460 GRCh38 Chromosome 15, 73323635: 73323635
27 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh38 Chromosome 15, 73323818: 73323818
28 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh37 Chromosome 15, 73616159: 73616159
29 HCN4 NM_005477.2(HCN4): c.1703G> C (p.Ser568Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138714806 GRCh37 Chromosome 15, 73617673: 73617673
30 HCN4 NM_005477.2(HCN4): c.1703G> C (p.Ser568Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138714806 GRCh38 Chromosome 15, 73325332: 73325332
31 HCN4 NM_005477.2(HCN4): c.1683C> A (p.Gly561=) single nucleotide variant Benign rs62641690 GRCh37 Chromosome 15, 73617693: 73617693
32 HCN4 NM_005477.2(HCN4): c.1683C> A (p.Gly561=) single nucleotide variant Benign rs62641690 GRCh38 Chromosome 15, 73325352: 73325352
33 HCN4 NM_005477.2(HCN4): c.1371+8C> T single nucleotide variant Benign rs199838832 GRCh37 Chromosome 15, 73624464: 73624464
34 HCN4 NM_005477.2(HCN4): c.1371+8C> T single nucleotide variant Benign rs199838832 GRCh38 Chromosome 15, 73332123: 73332123
35 HCN4 NM_005477.2(HCN4): c.520C> T (p.Pro174Ser) single nucleotide variant Uncertain significance rs542532555 GRCh37 Chromosome 15, 73660092: 73660092
36 HCN4 NM_005477.2(HCN4): c.520C> T (p.Pro174Ser) single nucleotide variant Uncertain significance rs542532555 GRCh38 Chromosome 15, 73367751: 73367751
37 HCN4 NM_005477.2(HCN4): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance rs773857091 GRCh37 Chromosome 15, 73660194: 73660194
38 HCN4 NM_005477.2(HCN4): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance rs773857091 GRCh38 Chromosome 15, 73367853: 73367853
39 HCN4 NM_005477.2(HCN4): c.3577G> C (p.Glu1193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200507617 GRCh37 Chromosome 15, 73614857: 73614857
40 HCN4 NM_005477.2(HCN4): c.3577G> C (p.Glu1193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200507617 GRCh38 Chromosome 15, 73322516: 73322516
41 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 GRCh37 Chromosome 15, 73614933: 73614936
42 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 GRCh38 Chromosome 15, 73322592: 73322595
43 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 NCBI36 Chromosome 15, 71401986: 71401989
44 HCN4 NM_005477.2(HCN4): c.1444G> A (p.Gly482Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
45 HCN4 NM_005477.2(HCN4): c.1444G> A (p.Gly482Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727637 GRCh38 Chromosome 15, 73329719: 73329719
46 HCN4 NM_005477.2(HCN4): c.3587G> A (p.Arg1196His) single nucleotide variant Conflicting interpretations of pathogenicity rs147181577 GRCh37 Chromosome 15, 73614847: 73614847
47 HCN4 NM_005477.2(HCN4): c.3587G> A (p.Arg1196His) single nucleotide variant Conflicting interpretations of pathogenicity rs147181577 GRCh38 Chromosome 15, 73322506: 73322506
48 HCN4 NM_005477.2(HCN4): c.2601C> A (p.Ala867=) single nucleotide variant Benign rs143188160 GRCh37 Chromosome 15, 73615833: 73615833
49 HCN4 NM_005477.2(HCN4): c.2601C> A (p.Ala867=) single nucleotide variant Benign rs143188160 GRCh38 Chromosome 15, 73323492: 73323492
50 HCN4 NM_005477.2(HCN4): c.2523G> A (p.Ser841=) single nucleotide variant Conflicting interpretations of pathogenicity rs768157473 GRCh37 Chromosome 15, 73615911: 73615911

Expression for Brugada Syndrome 8

Search GEO for disease gene expression data for Brugada Syndrome 8.

Pathways for Brugada Syndrome 8

GO Terms for Brugada Syndrome 8

Sources for Brugada Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....