Details of Disease | DrugMAP

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

Molecular Interaction Atlas (MIA)

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]
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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.