ORPHA:130
Brugada syndrome
Synonyms: Ventricular fibrillation, Brugada type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult, Childhood
- Status
- active
A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brugada syndrome | Ventricular fibrillation, Brugada type |
| fr | Syndrome de Brugada | Fibrillation ventriculaire type Brugada |
| de | Brugada-Syndrom | Kammerflimmern vom Typ Brugada |
| es | Síndrome de Brugada | Fibrilación ventricular tipo Brugada |
| it | Sindrome di Brugada | SUNDS |
| nl | Syndroom van Brugada | Kamerfibrillatie, Brugada-type · Ventrikelfibrillatie, Brugada-type · Ventrikelfibrilleren, Brugada-type |
| pt | Síndrome Brugada | Fibrilação ventricular, tipo Brugada |
| pl | Zespół Brugada | Bangungut · Dream disease · Idiopatyczne migotanie komór, typu Brugada · SUNDS · Zespół nagłej niewyjaśnionej nocnej śmierci · Zespół Pokkuri |
| cs | Syndrom Brugadových | Bangungut · Snová choroba · Idiopatická fibrilace komor, typ Brugadových · Syndrom smrti "Pokkuri · SUNDS · Syndrom náhlé nevysvětlené noční smrti · Syndrom bratří Brugadů |
| uk | Синдром Бругада | Ідіопатична фібриляція шлуночків, тип Бругада |
| zh | Brugada综合征 | 特发性心室颤动Brugada型 |
| tr | Brugada sendromu | SUNDS · Bangungut · Dream hastalığı · Pokkuri letal sendromu · Açıklanamayan ani gece ölüm sendromu · İdiyopatik ventriküler fibrilasyon, Brugada tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601144 | E | validated | |
| OMIM | 611777 | BTNT | validated | |
| OMIM | 611875 | BTNT | validated | |
| OMIM | 611876 | BTNT | validated | |
| OMIM | 612838 | BTNT | validated | |
| OMIM | 613119 | BTNT | validated | |
| OMIM | 613120 | BTNT | validated | |
| OMIM | 613123 | BTNT | validated | |
| OMIM | 616399 | BTNT | validated | |
| ICD-10 | I49.8 | NTBT | inclusion | validated |
| ICD-11 | BC65.1 | E | specific | validated |
| MONDO | 0015263 | E | validated | |
| MeSH | D053840 | E | validated | |
| UMLS | C1142166 | E | validated | |
| GARD | 1030 | E | validated | |
| MedDRA | 10059027 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
22 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC9 | Candidate gene tested in | Not yet assessed | HGNC:60 | ENSG00000069431 | 601439 | 12p12.1 | ATP binding cassette subfamily C member 9 | 24439875[PMID] |
| AKAP9 | Candidate gene tested in | Not yet assessed | HGNC:379 | ENSG00000127914 | 604001 | 7q21.2 | A-kinase anchoring protein 9 | 27707468[PMID]_25016126[PMID] |
| CACNA1C | Candidate gene tested in | Not yet assessed | HGNC:1390 | ENSG00000151067 | 114205 | 12p13.33 | calcium voltage-gated channel subunit alpha1 C | 20301690[PMID] |
| CACNA2D1 | Candidate gene tested in | Not yet assessed | HGNC:1399 | ENSG00000153956 | 114204 | 7q21.11 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 20301690[PMID]_20817017[PMID]_17224476[PMID] |
| CACNB2 | Candidate gene tested in | Not yet assessed | HGNC:1402 | ENSG00000165995 | 600003 | 10p12 | calcium voltage-gated channel auxiliary subunit beta 2 | 20301690[PMID] |
| GPD1L | Candidate gene tested in | Not yet assessed | HGNC:28956 | ENSG00000152642 | 611778 | 3p22.3 | glycerol-3-phosphate dehydrogenase 1 like | 20301690[PMID] |
| HCN4 | Candidate gene tested in | Not yet assessed | HGNC:16882 | ENSG00000138622 | 605206 | 15q24.1 | hyperpolarization activated cyclic nucleotide gated potassium channel 4 | 20301690[PMID] |
| KCND3 | Candidate gene tested in | Not yet assessed | HGNC:6239 | ENSG00000171385 | 605411 | 1p13.2 | potassium voltage-gated channel subfamily D member 3 | 21349352[PMID]_20301690[PMID] |
| KCNE3 | Candidate gene tested in | Not yet assessed | HGNC:6243 | ENSG00000175538 | 604433 | 11q13.4 | potassium voltage-gated channel subfamily E regulatory subunit 3 | 20301690[PMID] |
| KCNE5 | Candidate gene tested in | Not yet assessed | HGNC:6241 | ENSG00000176076 | 300328 | Xq23 | potassium voltage-gated channel subfamily E regulatory subunit 5 | 21493962[PMID] |
| KCNJ8 | Candidate gene tested in | Not yet assessed | HGNC:6269 | ENSG00000121361 | 600935 | 12p12.1 | potassium inwardly rectifying channel subfamily J member 8 | 22056721[PMID]_20301690[PMID] |
| PKP2 | Candidate gene tested in | Not yet assessed | HGNC:9024 | ENSG00000057294 | 602861 | 12p11.21 | plakophilin 2 | 27085656[PMID] |
| RANGRF | Candidate gene tested in | Not yet assessed | HGNC:17679 | ENSG00000108961 | 607954 | 17p13.1 | RAN guanine nucleotide release factor | 24142675[PMID] |
| SCN10A | Candidate gene tested in | Not yet assessed | HGNC:10582 | ENSG00000185313 | 604427 | 3p22.2 | sodium voltage-gated channel alpha subunit 10 | 24998131[PMID]_25691538[PMID] |
| SCN1B | Candidate gene tested in | Not yet assessed | HGNC:10586 | ENSG00000105711 | 600235 | 19q13.11 | sodium voltage-gated channel beta subunit 1 | 20301690[PMID] |
| SCN2B | Candidate gene tested in | Not yet assessed | HGNC:10589 | ENSG00000149575 | 601327 | 11q23.3 | sodium voltage-gated channel beta subunit 2 | 23559163[PMID]_30821013[PMID] |
| SCN3B | Candidate gene tested in | Not yet assessed | HGNC:20665 | ENSG00000166257 | 608214 | 11q24.1 | sodium voltage-gated channel beta subunit 3 | 20301690[PMID] |
| SCNN1A | Candidate gene tested in | Not yet assessed | HGNC:10599 | ENSG00000111319 | 600228 | 12p13.31 | sodium channel epithelial 1 subunit alpha | 30821013[PMID] |
| SEMA3A | Candidate gene tested in | Not yet assessed | HGNC:10723 | ENSG00000075213 | 603961 | 7q21.11 | semaphorin 3A | 30821013[PMID] |
| SLMAP | Candidate gene tested in | Not yet assessed | HGNC:16643 | ENSG00000163681 | 602701 | 3p14.3 | sarcolemma associated protein | 20301690[PMID]_23064965[PMID] |
| TRPM4 | Candidate gene tested in | Not yet assessed | HGNC:17993 | ENSG00000130529 | 606936 | 19q13.33 | transient receptor potential cation channel subfamily M member 4 | 23382873[PMID]_20301690[PMID] |
| SCN5A | Disease-causing germline mutation(s) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 20301690[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 6-9 / 10 000 | 75 / 100 000 | South East Asia | Value and class | Not yet validated | 15898165[PMID]_23916535[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
12 annotations · validated 2019-05-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001695 | Cardiac arrest | |
| HP:0011712 | Right bundle branch block | |
| HP:0012251 | ST segment elevation | |
| HP:0001279 | Syncope | |
| Occasional (29-5%) | ||
| HP:0011705 | First degree atrioventricular block | |
| HP:0004751 | Paroxysmal ventricular tachycardia | |
| HP:0011704 | Sick sinus syndrome | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0001649 | Tachycardia | |
| HP:0001663 | Ventricular fibrillation | |
| Very rare (<4-1%) | ||
| HP:0011715 | Trifascicular block | |
| HP:0004308 | Ventricular arrhythmia | |
Annotation source: 29020354[PMID]_29254832[PMID]_26220970[PMID]_20301690[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/130
- This record as JSON: /data/d/130.json