Details of Disease

General Information of Disease (ID: DIS6BEGF)

Disease Name Immunodeficiency 25
Synonyms
immunodeficiency due to defect in CD3-zeta; IMD25; severe combined immunodeficiency (disease) caused by mutation in CD247; immunodeficiency 25; CD247 severe combined immunodeficiency (disease); CD3zeta deficiency; immunodeficiency type 25
Definition Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
Disease Hierarchy
DIS6MF4Q: Severe combined immunodeficiency
DISPUD3N: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
DIS6BEGF: Immunodeficiency 25
Disease Identifiers
MONDO ID
MONDO_0012426
MESH ID
C565712
UMLS CUI
C1857798
OMIM ID
610163
MedGen ID
346666

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
CD247 OT45FGUX Definitive Autosomal recessive [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.