Details of Disease

General Information of Disease (ID: DISW0L5G)

Disease Name Pancytopenia due to IKZF1 mutations
Synonyms
syndrome with combined immunodeficiency caused by mutation in IKZF1; IKZF1 syndrome with combined immunodeficiency; Cid due to IKAROS deficiency; immunodeficiency, common variable, type 13; combined immunodeficiency due to IKAROS deficiency; CVID13; immunodeficiency, common variable, 13
Definition Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.
Disease Hierarchy
DISHE7JQ: Common variable immunodeficiency
DISW0L5G: Pancytopenia due to IKZF1 mutations
Disease Identifiers
MONDO ID
MONDO_0014810
UMLS CUI
C4225173
OMIM ID
616873
MedGen ID
905078
Orphanet ID
317473

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
IKZF1 OTCW1FKL Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.