Details of Disease

General Information of Disease (ID: DISQAV62)

Disease Name Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Synonyms
immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; ICF1; centromeric instability, immunodeficiency syndrome; immunodeficiency syndrome, variable; ICF syndrome 1; DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome; immunodeficiency-centromeric instability-facial anomalies syndrome type 1; immunodeficiency-centromeric instability-facial anomalies syndrome 1; immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B; immunodeficiency-centromeric instability-Facial anomalies syndrome type 1
Definition Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.
Disease Hierarchy
DISQ0KIE: Immunodeficiency-centromeric instability-facial anomalies syndrome
DISQAV62: Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009454
UMLS CUI
C4551557
OMIM ID
242860
MedGen ID
1636193

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DNMT3B TT6VZ78 Strong Genetic Variation [1]
DNMT3B TT6VZ78 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DNMT3B OTZ0JCNP Definitive Autosomal recessive [2]
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References

1 A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).J Clin Immunol. 2016 Nov;36(8):801-809. doi: 10.1007/s10875-016-0340-z. Epub 2016 Oct 12.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.