Details of Disease

General Information of Disease (ID: DISHLZH1)

Disease Name Brugada syndrome 8
Synonyms BRGDA8; Brugada syndrome type 8; Brugada syndrome caused by mutation in HCN4; Brugada syndrome 8; HCN4 Brugada syndrome
Definition Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.
Disease Hierarchy
DISSGN0E: Brugada syndrome
DISHLZH1: Brugada syndrome 8
Disease Identifiers
MONDO ID
MONDO_0013148
MESH ID
C567732
UMLS CUI
C2751083
OMIM ID
613123
MedGen ID
413928

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HCN4 TTQP04A Moderate Autosomal dominant [1]
HCN4 TTQP04A Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HCN4 OTPH3RRX Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Genetics of Brugada syndrome.J Arrhythm. 2016 Oct;32(5):418-425. doi: 10.1016/j.joa.2016.07.012. Epub 2016 Sep 12.