BRUGADA SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: BRGDA5 CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612838
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001663) Ventricular fibrillation 18464934 IBIS 35 / 7739
2
(HPO:0011710) Bundle branch block 18464934 IBIS 14 / 7739
3
(HPO:0012251) ST segment elevation 18464934 IBIS 7 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Watanabe et al. (2008) studied 3 kindreds with conduction abnormalities, 1 Turkish, 1 French, and 1 Dutch; none of the families had a history of syncope, sudden cardiac death, or epilepsy. The Turkish proband was a 50-year-old woman ...
Molecular genetics OMIM Watanabe et al. (2008) analyzed the SCN1B gene in 282 probands with Brugada syndrome and 44 patients with conduction disease in whom mutation in the SCN5A gene (600163) had been excluded, and identified 3 mutations in 3 kindreds, ...