Brugada syndrome 1

Preferred Label : Brugada syndrome 1;

Symbol : BRGDA1;

CISMeF acronym : BRGDA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Right bundle branch block, st segment elevation, and sudden death syndrome; Sudden unexplained nocturnal death syndrome; SUNDS;

Included titles and symbols : Cardiac conduction defect, nonspecific;

Description : 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 occurs in infants and children (summary by Antzelevitch et al., 2005). - Genetic Heterogeneity of Brugada Syndrome Brugada syndrome-2 (611777) is caused by mutation in the GPD1L gene (611778). Brugada syndrome-3 (611875) and Brugada syndrome-4 (611876), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C (114205) and CACNB2 (600003) genes, respectively. Brugada syndrome-5 (612838) is caused by mutation in the SCN1B gene (600235). Brugada syndrome-6 (613119) is caused by mutation in the KCNE3 gene (604433). Brugada syndrome-7 (613120) is caused by mutation in the SCN3B gene (608214). Brugada syndrome-8 (613123) is caused by mutation in the HCN4 gene (605206).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type V, alpha subunit gene (SCN5A, 600163.0004);

Prefixed ID : #601144;

Details

Origin ID

601144;

UMLS CUI

C4551804;

Automatic exact mappings (from CISMeF team)
- Brugada syndrome [ORDO Disease]
- Brugada syndrome [DO Concept]
- Brugada syndrome [ICD-11 Subcategory]
- brugada syndrome [MeSH Descriptor]
- cardiac conduction defect, nonspecific [MeSH Supplementary Concept]
- cardiac conduction defect, nonspecific [MeSH concept]
Currated CISMeF NLP mapping
- Brugada syndrome 1 [DO Concept]
- Brugada syndrome type 1 [Disease (Nov.)]
DO Cross reference
- Brugada syndrome 1 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial flutter [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Idiopathic ventricular fibrillation [HPO term]
- Right bundle branch block [HPO term]
- Sudden cardiac death [HPO term]
- Supraventricular tachycardia with an accessory connection mediated pathway [HPO term]
- Syncope [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Brugada syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brugada Syndrome [NCIt concept]
- Brugada syndrome [MedDRA Preferred Term]
- Brugada syndrome (disorder) [SNOMED CT concept]
- Brugada syndrome 1 [DO Concept]
- Brugada syndrome type 1 [Disease (Nov.)]
- Idiopathic ventricular fibrillation [HPO term]
- brugada syndrome [MeSH Descriptor]
- brugada syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Brugada Syndrome [NCIt concept]
- Brugada syndrome [ORDO Disease]
- Brugada syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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