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 57 12 75 29 13 6 73
Brgda8 57 12 75
Brugada Syndrome, Type 8 40

Classifications:



External Ids:

OMIM 57 613123
Disease Ontology 12 DOID:0110225
ICD10 33 I49.8
MedGen 42 C2751083
MeSH 44 D053840
SNOMED-CT via HPO 69 25569003 164931005 76388001
UMLS 73 C2751083

Summaries for Brugada Syndrome 8

OMIM : 57 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 : 75 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 9.7 HCN4 LOC105370890

Symptoms & Phenotypes for Brugada Syndrome 8

Clinical features from OMIM:

613123

Human phenotypes related to Brugada Syndrome 8:

32
# Description HPO Frequency HPO Source Accession
1 ventricular tachycardia 32 HP:0004756
2 st segment elevation 32 HP:0012251

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 29 HCN4

Anatomical Context for Brugada Syndrome 8

MalaCards organs/tissues related to Brugada Syndrome 8:

41
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.1209_1209+1insGTGA insertion Uncertain significance rs786205418 GRCh37 Chromosome 15, 73635725: 73635726
2 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Uncertain significance rs786205418 GRCh38 Chromosome 15, 73343384: 73343385
3 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Uncertain significance rs786205418 NCBI36 Chromosome 15, 71422778: 71422779
4 HCN4 NM_005477.2(HCN4): c.1371+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200303699 GRCh37 Chromosome 15, 73624463: 73624463
5 HCN4 NM_005477.2(HCN4): c.1371+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200303699 GRCh38 Chromosome 15, 73332122: 73332122
6 HCN4 NM_005477.2(HCN4): c.2556G> A (p.Pro852=) single nucleotide variant Benign rs117819825 GRCh37 Chromosome 15, 73615878: 73615878
7 HCN4 NM_005477.2(HCN4): c.2556G> A (p.Pro852=) single nucleotide variant Benign rs117819825 GRCh38 Chromosome 15, 73323537: 73323537
8 HCN4 NM_005477.2(HCN4): c.36C> G (p.Leu12=) single nucleotide variant Benign rs201193660 GRCh37 Chromosome 15, 73660576: 73660576
9 HCN4 NM_005477.2(HCN4): c.36C> G (p.Leu12=) single nucleotide variant Benign rs201193660 GRCh38 Chromosome 15, 73368235: 73368235
10 HCN4 NM_005477.2(HCN4): c.1518C> T (p.Tyr506=) single nucleotide variant Benign/Likely benign rs139590882 GRCh38 Chromosome 15, 73329645: 73329645
11 HCN4 NM_005477.2(HCN4): c.1518C> T (p.Tyr506=) single nucleotide variant Benign/Likely benign rs139590882 GRCh37 Chromosome 15, 73621986: 73621986
12 HCN4 NM_005477.2(HCN4): c.1839C> T (p.Phe613=) single nucleotide variant Benign rs117731813 GRCh38 Chromosome 15, 73325094: 73325094
13 HCN4 NM_005477.2(HCN4): c.1839C> T (p.Phe613=) single nucleotide variant Benign rs117731813 GRCh37 Chromosome 15, 73617435: 73617435
14 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh38 Chromosome 15, 73323445: 73323445
15 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh37 Chromosome 15, 73615786: 73615786
16 HCN4 NM_005477.2(HCN4): c.3337A> G (p.Met1113Val) single nucleotide variant Benign rs142735148 GRCh38 Chromosome 15, 73322756: 73322756
17 HCN4 NM_005477.2(HCN4): c.3337A> G (p.Met1113Val) single nucleotide variant Benign rs142735148 GRCh37 Chromosome 15, 73615097: 73615097
18 HCN4 NM_005477.2(HCN4): c.1459G> A (p.Val487Met) single nucleotide variant Conflicting interpretations of pathogenicity rs202037304 GRCh37 Chromosome 15, 73622045: 73622045
19 HCN4 NM_005477.2(HCN4): c.1459G> A (p.Val487Met) single nucleotide variant Conflicting interpretations of pathogenicity rs202037304 GRCh38 Chromosome 15, 73329704: 73329704
20 HCN4 NM_005477.2(HCN4): c.3288C> T (p.Asp1096=) single nucleotide variant Benign rs116042117 GRCh37 Chromosome 15, 73615146: 73615146
21 HCN4 NM_005477.2(HCN4): c.3288C> T (p.Asp1096=) single nucleotide variant Benign rs116042117 GRCh38 Chromosome 15, 73322805: 73322805
22 HCN4 NM_005477.2(HCN4): c.2739G> A (p.Ala913=) single nucleotide variant Conflicting interpretations of pathogenicity rs373411041 GRCh37 Chromosome 15, 73615695: 73615695
23 HCN4 NM_005477.2(HCN4): c.2739G> A (p.Ala913=) single nucleotide variant Conflicting interpretations of pathogenicity rs373411041 GRCh38 Chromosome 15, 73323354: 73323354
24 HCN4 NM_005477.2(HCN4): c.621C> G (p.Arg207=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503958 GRCh37 Chromosome 15, 73659991: 73659991
25 HCN4 NM_005477.2(HCN4): c.621C> G (p.Arg207=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503958 GRCh38 Chromosome 15, 73367650: 73367650
26 HCN4 NM_005477.2(HCN4): c.458A> G (p.Glu153Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs560874115 GRCh37 Chromosome 15, 73660154: 73660154
27 HCN4 NM_005477.2(HCN4): c.458A> G (p.Glu153Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs560874115 GRCh38 Chromosome 15, 73367813: 73367813
28 HCN4 NM_005477.2(HCN4): c.3497_3500delCTTT (p.Ser1166Cysfs) deletion Uncertain significance rs774674047 GRCh37 Chromosome 15, 73614934: 73614937
29 HCN4 NM_005477.2(HCN4): c.3497_3500delCTTT (p.Ser1166Cysfs) deletion Uncertain significance rs774674047 GRCh38 Chromosome 15, 73322593: 73322596
30 HCN4 NM_005477.2(HCN4): c.3033T> G (p.Ser1011=) single nucleotide variant Benign rs186728422 GRCh38 Chromosome 15, 73323060: 73323060
31 HCN4 NM_005477.2(HCN4): c.3033T> G (p.Ser1011=) single nucleotide variant Benign rs186728422 GRCh37 Chromosome 15, 73615401: 73615401
32 HCN4 NM_005477.2(HCN4): c.2831C> T (p.Ala944Val) single nucleotide variant Benign rs144450232 GRCh37 Chromosome 15, 73615603: 73615603
33 HCN4 NM_005477.2(HCN4): c.2831C> T (p.Ala944Val) single nucleotide variant Benign rs144450232 GRCh38 Chromosome 15, 73323262: 73323262
34 HCN4 NM_005477.2(HCN4): c.2804C> T (p.Ser935Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs775803239 GRCh37 Chromosome 15, 73615630: 73615630
35 HCN4 NM_005477.2(HCN4): c.2804C> T (p.Ser935Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs775803239 GRCh38 Chromosome 15, 73323289: 73323289
36 HCN4 NM_005477.2(HCN4): c.2800C> T (p.Arg934Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199638465 GRCh38 Chromosome 15, 73323293: 73323293
37 HCN4 NM_005477.2(HCN4): c.2800C> T (p.Arg934Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199638465 GRCh37 Chromosome 15, 73615634: 73615634
38 HCN4 NM_005477.2(HCN4): c.2657C> T (p.Ala886Val) single nucleotide variant Benign/Likely benign rs200575377 GRCh37 Chromosome 15, 73615777: 73615777
39 HCN4 NM_005477.2(HCN4): c.2657C> T (p.Ala886Val) single nucleotide variant Benign/Likely benign rs200575377 GRCh38 Chromosome 15, 73323436: 73323436
40 HCN4 NM_005477.2(HCN4): c.2522C> T (p.Ser841Leu) single nucleotide variant Likely benign rs200546024 GRCh37 Chromosome 15, 73615912: 73615912
41 HCN4 NM_005477.2(HCN4): c.2522C> T (p.Ser841Leu) single nucleotide variant Likely benign rs200546024 GRCh38 Chromosome 15, 73323571: 73323571
42 HCN4 NM_005477.2(HCN4): c.2458G> A (p.Gly820Arg) single nucleotide variant Uncertain significance rs761337460 GRCh37 Chromosome 15, 73615976: 73615976
43 HCN4 NM_005477.2(HCN4): c.2458G> A (p.Gly820Arg) single nucleotide variant Uncertain significance rs761337460 GRCh38 Chromosome 15, 73323635: 73323635
44 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh38 Chromosome 15, 73323818: 73323818
45 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh37 Chromosome 15, 73616159: 73616159
46 HCN4 NM_005477.2(HCN4): c.1703G> C (p.Ser568Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138714806 GRCh37 Chromosome 15, 73617673: 73617673
47 HCN4 NM_005477.2(HCN4): c.1703G> C (p.Ser568Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138714806 GRCh38 Chromosome 15, 73325332: 73325332
48 HCN4 NM_005477.2(HCN4): c.1683C> A (p.Gly561=) single nucleotide variant Benign rs62641690 GRCh37 Chromosome 15, 73617693: 73617693
49 HCN4 NM_005477.2(HCN4): c.1683C> A (p.Gly561=) single nucleotide variant Benign rs62641690 GRCh38 Chromosome 15, 73325352: 73325352
50 HCN4 NM_005477.2(HCN4): c.1371+8C> T single nucleotide variant Benign rs199838832 GRCh37 Chromosome 15, 73624464: 73624464

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

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