Details of Disease

General Information of Disease (ID: DIS0WTRT)

Disease Name Brugada syndrome 5
Synonyms Cardiac conduction defect, nonspecific; Brugada syndrome 5; Brugada syndrome caused by mutation in SCN1B; Brugada syndrome type 5; SCN1B Brugada syndrome; BRGDA5
Definition Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.
Disease Hierarchy
DISSGN0E: Brugada syndrome
DIS0WTRT: Brugada syndrome 5
Disease Identifiers
MONDO ID
MONDO_0013015
MESH ID
C567556
UMLS CUI
C2748541
OMIM ID
612838
MedGen ID
411607

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN1B OTGD78J3 Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain. 2007 Jan;130(Pt 1):100-9. doi: 10.1093/brain/awl272. Epub 2006 Oct 4.