Details of Disease

General Information of Disease (ID: DISW5R4Q)

Disease Name Congenital heart defects, multiple types, 4
Synonyms CHTD4; congenital heart defects, multiple types, 4; congenital heart defects, multiple types caused by mutation in NR2F2; NR2F2 congenital heart defects, multiple types
Definition Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.
Disease Hierarchy
DIS0VY1Z: Familial atrioventricular septal defect
DISWZRYW: Congenital heart defects, multiple types
DISW5R4Q: Congenital heart defects, multiple types, 4
Disease Identifiers
MONDO ID
MONDO_0014344
UMLS CUI
C4014310
OMIM ID
615779
MedGen ID
862747

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
NR2F2 OTJFS67N Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev. 1999 Apr 15;13(8):1037-49. doi: 10.1101/gad.13.8.1037.