immunodeficiency with hyper IgM type 5

Summary

DOID:0060759 - immunodeficiency with hyper IgM type 5

Disease Ontology Definition:A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.

Synonyms: HIGM5, hyper-IgM syndrome 5, hyper-IgM syndrome due to UNG deficiency, hyper-IgM syndrome due to uracil N-glycosylase,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ung

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011971 - hyper-IgM syndrome type 5

MONDO:0011971 - hyper-IgM syndrome type 5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hyperimmunoglobulin syndrome (is_a)