BRUGADA SYNDROME 8

General Information (adopted from Orphanet):

Synonyms, Signs: BRGDA8
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613123
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004756) Ventricular tachycardia 55 / 7739
2
(HPO:0012251) ST segment elevation 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ueda et al. (2009) studied a 41-year-old man who had recurrent episodes of syncope at rest and whose electrocardiogram (ECG) showed saddle-back ST segment elevation in leads V1 and V2, incomplete right bundle branch block, and QT intervals ...
Molecular genetics OMIM In a 41-year-old man with Brugada syndrome who was negative for mutation in the SCN5A gene (600163), Ueda et al. (2009) identified heterozygosity for a splice site mutation in the HCN4 gene (605206.0005) that was not found in ...