Details of Disease

General Information of Disease (ID: DISQ0KIE)

Disease Name Immunodeficiency-centromeric instability-facial anomalies syndrome
Synonyms ICF syndrome; CIID; immunodeficiency-centromeric instability-facial anomalies syndrome; immunodeficiency-centromeric instability-facial anomalies
Definition
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISLXQHV: Telomere syndrome
DISQ0KIE: Immunodeficiency-centromeric instability-facial anomalies syndrome
Disease Identifiers
MONDO ID
MONDO_0000133
MESH ID
C537362
UMLS CUI
C0398788
MedGen ID
140770
Orphanet ID
2268
SNOMED CT ID
234633000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZBTB24 OT9TPYNM Supportive Autosomal recessive [1]
CDCA7 OT12HDZY Supportive Autosomal recessive [4]
DNMT3B OTZ0JCNP Supportive Autosomal recessive [2]
HELLS OTVVV668 Supportive Autosomal recessive [4]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DNMT3B TT6VZ78 Supportive Autosomal recessive [2]
DNMT3B TT6VZ78 Strong CausalMutation [3]
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References

1 A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Clin Genet. 2012 Nov;82(5):489-93. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5.
2 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14412-7. doi: 10.1073/pnas.96.25.14412.
3 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13.
4 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870.