ZFIN Human Disease: immunodeficiency with hyper IgM type 5

OBO ID: DOID:0060759

Term Name:	immunodeficiency with hyper IgM type 5		Search Ontology:
Synonyms:	HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase
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. https://www.ncbi.nlm.nih.gov/pubmed/12958596
References:	GARD:10581 OMIM:608106 ORDO:101092 UMLS_CUI:C1720958
Ontology:	Human Disease ( DOID:0060759 )

Relationships

is a type of:	autosomal recessive disease hyper IgM syndrome autosomal recessive disease hyper IgM syndrome Show first 5 Terms

OTHER immunodeficiency with hyper IgM type 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UNG	unga ungb	Immunodeficiency with hyper IgM, type 5	608106

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None