Details of Disease

General Information of Disease (ID: DISMOPYM)

• Disease Name: 22q11.2 deletion syndrome
• Synonyms: VCFS; velocardiofacial syndrome; DiGeorge sequence; DiGeorge syndrome; Takao syndrome; catch 22; 22q11DS; microdeletion 22q11.2; Cayler cardiofacial syndrome; Sedlackova syndrome; monosomy 22q11; conotruncal anomaly face syndrome; Shprintzen syndrome
• Definition: 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  DIS2BIP8: Congenital nervous system disorder
  DISAEGPH: Immune system disorder
  DIS5W295: Chromosome 22q deletion
  DISVO1I5: Cardiac disease
  DISMOPYM: 22q11.2 deletion 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
TBX1	OTQLBPRA	Supportive	Autosomal dominant	[1]

References

• [1] Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. doi: 10.1016/s0140-6736(03)14632-6.