Details of Disease

General Information of Disease (ID: DISM0EDE)

• Disease Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 4
• Synonyms: ICF4; immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS; immunodeficiency-centromeric instability-facial anomalies syndrome type 4; HELLS immunodeficiency-centromeric instability-facial anomalies syndrome; immunodeficiency-centromeric instability-Facial anomalies syndrome 4; immunodeficiency-centromeric instability-Facial anomalies syndrome type 4; ICF syndrome 4
• Definition: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
• Disease Hierarchy:
  DISQ0KIE: Immunodeficiency-centromeric instability-facial anomalies syndrome
  DISM0EDE: Immunodeficiency-centromeric instability-facial anomalies syndrome 4
• Disease Identifiers:
  MONDO ID: MONDO_0014829
  UMLS CUI: C4310798
  OMIM ID: 616911
  MedGen ID: 934765

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
HELLS	OTVVV668	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.