Details of Disease

General Information of Disease (ID: DISQ328A)

Disease Name Hyper-IgM syndrome type 5
Synonyms
hyper IgM syndrome 5; immunodeficiency with hyper IgM type 5; immunodeficiency with hyper-IgM, type 5; hyper-IgM syndrome 5; UNG hyper-IgM syndrome; HIGM5; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase; immunodeficiency with hyper IgM, type 5; hyper-IgM syndrome caused by mutation in UNG; hyper-IgM syndrome type 5
Definition Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.
Disease Hierarchy
DISLWPN6: Hyper-IgM syndrome
DISQ328A: Hyper-IgM syndrome type 5
Disease Identifiers
MONDO ID
MONDO_0011971
MESH ID
D053306
UMLS CUI
C1720958
OMIM ID
608106
MedGen ID
328420
Orphanet ID
101092

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
UNG OTZTWD86 Strong Autosomal recessive [1]
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References

1 Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol. 2003 Oct;4(10):1023-8. doi: 10.1038/ni974. Epub 2003 Sep 7.