BRGDA8
MCID: BRG010
MIFTS: 26

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 72 29 13 6 70
Brgda8 57 12 72
Syndrome, Brugada, Type 8 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110225
OMIM® 57 613123
OMIM Phenotypic Series 57 PS601144
MeSH 44 D053840
ICD10 32 I49.8
MedGen 41 C2751083
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Brugada Syndrome 8, is also known as brgda8. 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 right bundle branch block and ventricular tachycardia

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

UniProtKB/Swiss-Prot : 72 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

Symptoms & Phenotypes for Brugada Syndrome 8

Human phenotypes related to Brugada Syndrome 8:

31
# Description HPO Frequency HPO Source Accession
1 right bundle branch block 31 very rare (1%) HP:0011712
2 ventricular tachycardia 31 very rare (1%) HP:0004756
3 st segment elevation 31 very rare (1%) HP:0012251

Clinical features from OMIM®:

613123 (Updated 20-May-2021)

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:

40
Heart

Publications for Brugada Syndrome 8

Articles related to Brugada Syndrome 8:

# Title Authors PMID Year
1
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 57 6
22840528 2012
2
Role of HCN4 channel in preventing ventricular arrhythmia. 6 57
19165230 2009
3
Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. 6
27173043 2016
4
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy. 6
26206080 2015
5
The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel. 6
25145518 2014
6
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. 6
25145517 2014
7
Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 57
15655131 2005
8
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 61
26743238 2016

Variations for Brugada Syndrome 8

ClinVar genetic disease variations for Brugada Syndrome 8:

6 (show top 50) (show all 477)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCN4 NM_005477.3(HCN4):c.1209+2_1209+3insGTGA Insertion Pathogenic 5177 rs786205418 GRCh37: 15:73635723-73635724
GRCh38: 15:73343382-73343383
2 HCN4 NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) SNV Pathogenic 197253 rs794727637 GRCh37: 15:73622060-73622060
GRCh38: 15:73329719-73329719
3 HCN4 NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) SNV Conflicting interpretations of pathogenicity 190784 rs775803239 GRCh37: 15:73615630-73615630
GRCh38: 15:73323289-73323289
4 overlap with 8 genes NC_000015.10:g.(?_72353681)_(73368280_?)dup Duplication Uncertain significance 831142 GRCh37: 15:72646022-73660621
GRCh38:
5 HCN4 NM_005477.3(HCN4):c.152G>A (p.Arg51Gln) SNV Uncertain significance 834803 GRCh37: 15:73660460-73660460
GRCh38: 15:73368119-73368119
6 HCN4 NM_005477.3(HCN4):c.3503T>C (p.Phe1168Ser) SNV Uncertain significance 835426 GRCh37: 15:73614931-73614931
GRCh38: 15:73322590-73322590
7 HCN4 NM_005477.3(HCN4):c.3178C>T (p.Pro1060Ser) SNV Uncertain significance 835589 GRCh37: 15:73615256-73615256
GRCh38: 15:73322915-73322915
8 HCN4 NM_005477.3(HCN4):c.655G>A (p.Gly219Arg) SNV Uncertain significance 837517 GRCh37: 15:73659957-73659957
GRCh38: 15:73367616-73367616
9 HCN4 NM_005477.3(HCN4):c.3609A>G (p.Leu1203=) SNV Uncertain significance 837958 GRCh37: 15:73614825-73614825
GRCh38: 15:73322484-73322484
10 HCN4 NM_005477.3(HCN4):c.646C>G (p.Arg216Gly) SNV Uncertain significance 838216 GRCh37: 15:73659966-73659966
GRCh38: 15:73367625-73367625
11 HCN4 NM_005477.3(HCN4):c.2630C>T (p.Ser877Leu) SNV Uncertain significance 839390 GRCh37: 15:73615804-73615804
GRCh38: 15:73323463-73323463
12 HCN4 NM_005477.3(HCN4):c.2606C>T (p.Ala869Val) SNV Uncertain significance 839470 GRCh37: 15:73615828-73615828
GRCh38: 15:73323487-73323487
13 HCN4 NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) SNV Uncertain significance 489266 rs375637572 GRCh37: 15:73614852-73614852
GRCh38: 15:73322511-73322511
14 HCN4 NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp) SNV Uncertain significance 840097 GRCh37: 15:73615229-73615229
GRCh38: 15:73322888-73322888
15 HCN4 NM_005477.3(HCN4):c.1190A>C (p.Tyr397Ser) SNV Uncertain significance 840728 GRCh37: 15:73635745-73635745
GRCh38: 15:73343404-73343404
16 HCN4 NM_005477.3(HCN4):c.2828C>A (p.Pro943His) SNV Uncertain significance 841951 GRCh37: 15:73615606-73615606
GRCh38: 15:73323265-73323265
17 HCN4 NM_005477.3(HCN4):c.1612A>G (p.Met538Val) SNV Uncertain significance 843808 GRCh37: 15:73617764-73617764
GRCh38: 15:73325423-73325423
18 HCN4 NM_005477.3(HCN4):c.2470A>G (p.Arg824Gly) SNV Uncertain significance 843999 GRCh37: 15:73615964-73615964
GRCh38: 15:73323623-73323623
19 HCN4 NM_005477.3(HCN4):c.2711T>C (p.Ile904Thr) SNV Uncertain significance 844317 GRCh37: 15:73615723-73615723
GRCh38: 15:73323382-73323382
20 HCN4 NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser) SNV Uncertain significance 844561 GRCh37: 15:73615205-73615205
GRCh38: 15:73322864-73322864
21 HCN4 NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg) SNV Uncertain significance 845170 GRCh37: 15:73615333-73615333
GRCh38: 15:73322992-73322992
22 HCN4 NM_005477.3(HCN4):c.946A>T (p.Thr316Ser) SNV Uncertain significance 846864 GRCh37: 15:73635989-73635989
GRCh38: 15:73343648-73343648
23 HCN4 NM_005477.3(HCN4):c.247G>C (p.Gly83Arg) SNV Uncertain significance 846869 GRCh37: 15:73660365-73660365
GRCh38: 15:73368024-73368024
24 HCN4 NM_005477.3(HCN4):c.2796C>T (p.Gly932=) SNV Uncertain significance 847610 GRCh37: 15:73615638-73615638
GRCh38: 15:73323297-73323297
25 HCN4 NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) SNV Uncertain significance 190779 rs758468167 GRCh37: 15:73635803-73635803
GRCh38: 15:73343462-73343462
26 HCN4 NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln) SNV Uncertain significance 848242 GRCh37: 15:73615369-73615369
GRCh38: 15:73323028-73323028
27 HCN4 NM_005477.3(HCN4):c.1027A>G (p.Met343Val) SNV Uncertain significance 848292 GRCh37: 15:73635908-73635908
GRCh38: 15:73343567-73343567
28 HCN4 NM_005477.3(HCN4):c.1966T>G (p.Ser656Ala) SNV Uncertain significance 849190 GRCh37: 15:73617308-73617308
GRCh38: 15:73324967-73324967
29 HCN4 NM_005477.3(HCN4):c.3452C>T (p.Thr1151Ile) SNV Uncertain significance 849472 GRCh37: 15:73614982-73614982
GRCh38: 15:73322641-73322641
30 HCN4 NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg) SNV Uncertain significance 807287 rs1443227484 GRCh37: 15:73615286-73615286
GRCh38: 15:73322945-73322945
31 HCN4 NM_005477.3(HCN4):c.3490C>G (p.Pro1164Ala) SNV Uncertain significance 849884 GRCh37: 15:73614944-73614944
GRCh38: 15:73322603-73322603
32 HCN4 NM_005477.3(HCN4):c.17C>G (p.Pro6Arg) SNV Uncertain significance 850598 GRCh37: 15:73660595-73660595
GRCh38: 15:73368254-73368254
33 HCN4 NM_005477.3(HCN4):c.1713C>T (p.Gly571=) SNV Uncertain significance 850915 GRCh37: 15:73617663-73617663
GRCh38: 15:73325322-73325322
34 HCN4 NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter) SNV Uncertain significance 851154 GRCh37: 15:73615625-73615625
GRCh38: 15:73323284-73323284
35 HCN4 NM_005477.3(HCN4):c.2350G>A (p.Ala784Thr) SNV Uncertain significance 851506 GRCh37: 15:73616084-73616084
GRCh38: 15:73323743-73323743
36 HCN4 NM_005477.3(HCN4):c.1970A>G (p.Tyr657Cys) SNV Uncertain significance 852521 GRCh37: 15:73617304-73617304
GRCh38: 15:73324963-73324963
37 HCN4 NM_005477.3(HCN4):c.1103A>G (p.Tyr368Cys) SNV Uncertain significance 853718 GRCh37: 15:73635832-73635832
GRCh38: 15:73343491-73343491
38 HCN4 NM_005477.3(HCN4):c.3414del (p.Arg1140fs) Deletion Uncertain significance 518849 rs746402732 GRCh37: 15:73615020-73615020
GRCh38: 15:73322679-73322679
39 HCN4 NM_005477.3(HCN4):c.2198T>C (p.Val733Ala) SNV Uncertain significance 854920 GRCh37: 15:73616236-73616236
GRCh38: 15:73323895-73323895
40 HCN4 NM_005477.3(HCN4):c.2399G>A (p.Arg800His) SNV Uncertain significance 426219 rs375180021 GRCh37: 15:73616035-73616035
GRCh38: 15:73323694-73323694
41 HCN4 NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser) SNV Uncertain significance 856019 GRCh37: 15:73617526-73617526
GRCh38: 15:73325185-73325185
42 HCN4 NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr) SNV Uncertain significance 190783 rs777023781 GRCh37: 15:73615907-73615907
GRCh38: 15:73323566-73323566
43 HCN4 NM_005477.3(HCN4):c.1995_2009del (p.Arg666_Thr670del) Deletion Uncertain significance 857612 GRCh37: 15:73616564-73616578
GRCh38: 15:73324223-73324237
44 HCN4 NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe) SNV Uncertain significance 595951 rs1435000428 GRCh37: 15:73616051-73616051
GRCh38: 15:73323710-73323710
45 HCN4 NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg) SNV Uncertain significance 859517 GRCh37: 15:73615037-73615037
GRCh38: 15:73322696-73322696
46 HCN4 NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe) SNV Uncertain significance 859608 GRCh37: 15:73615214-73615214
GRCh38: 15:73322873-73322873
47 HCN4 NM_005477.3(HCN4):c.743A>G (p.Lys248Arg) SNV Uncertain significance 288482 rs191744064 GRCh37: 15:73659869-73659869
GRCh38: 15:73367528-73367528
48 HCN4 NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser) SNV Uncertain significance 518776 rs779132775 GRCh37: 15:73615052-73615052
GRCh38: 15:73322711-73322711
49 HCN4 NM_005477.3(HCN4):c.955G>A (p.Val319Met) SNV Uncertain significance 860790 GRCh37: 15:73635980-73635980
GRCh38: 15:73343639-73343639
50 HCN4 NM_005477.3(HCN4):c.697A>T (p.Met233Leu) SNV Uncertain significance 862743 GRCh37: 15:73659915-73659915
GRCh38: 15:73367574-73367574

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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