Details of Disease

General Information of Disease (ID: DISA82MV)

• Disease Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 3
• Synonyms: immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3; ICF3; immunodeficiency-centromeric instability-Facial anomalies syndrome type 3; CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome; ICF syndrome 3; immunodeficiency-centromeric instability-Facial anomalies syndrome 3; immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7; immunodeficiency-centromeric instability-facial anomalies syndrome type 3
• Definition: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.
• Disease Hierarchy:
  DISQ0KIE: Immunodeficiency-centromeric instability-facial anomalies syndrome
  DISA82MV: Immunodeficiency-centromeric instability-facial anomalies syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0014828
  UMLS CUI: C4310799
  OMIM ID: 616910
  MedGen ID: 934766

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
CDCA7	OT12HDZY	Strong	Autosomal recessive	[1]

References

• [1] Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870.