Details of Disease

General Information of Disease (ID: DISIEALR)

• Disease Name: NR2F2 related multiple congenital anomalies/dysmorphic syndrome
• Synonyms: TCOUP2-related multiple congenital anomalies/dysmorphic syndrome; NR2F2 related multiple congenital anomalies/dysmorphic syndrome; ARP1-related multiple congenital anomalies/dysmorphic syndrome; COUPTFII-related multiple congenital anomalies/dysmorphic syndrome
• Definition: A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS0LF2K: Multiple congenital anomalies/dysmorphic syndrome
  DISIEALR: NR2F2 related multiple congenital anomalies/dysmorphic syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NR2F2	OTJFS67N	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.