Details of Disease

General Information of Disease (ID: DISN9D8D)

Disease Name Atrial septal defect 4
Synonyms ASD4; TBX20 atrial heart septal defect; atrial heart septal defect type 4; atrial septal defect type 4; atrial septal defect 4; atrial heart septal defect caused by mutation in TBX20
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISN9D8D: Atrial septal defect 4
Disease Identifiers
MONDO ID
MONDO_0012654
MESH ID
C566963
UMLS CUI
C1969657
OMIM ID
611363
MedGen ID
369556

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
TBX20 OTMPU2XQ Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16.