Details of Disease

General Information of Disease (ID: DIS66SXL)

• Disease Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 2
• Synonyms: ICF2; immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24; ICF syndrome 2; immunodeficiency-centromeric instability-facial anomalies syndrome 2; immunodeficiency-centromeric instability-facial anomalies syndrome type 2; ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome; immunodeficiency-centromeric instability-Facial anomalies syndrome type 2
• Definition: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.
• Disease Hierarchy:
  DISQ0KIE: Immunodeficiency-centromeric instability-facial anomalies syndrome
  DIS66SXL: Immunodeficiency-centromeric instability-facial anomalies syndrome 2
• Disease Identifiers:
  MONDO ID: MONDO_0013553
  UMLS CUI: C3279748
  OMIM ID: 614069
  MedGen ID: 481378

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
ZBTB24	OT9TPYNM	Strong	Autosomal recessive	[1]

References

• [1] Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19.