immunodeficiency 47

Term ID

DOID:0112002

Synonyms

CDG IIs
CDG2S
CDGIIs
congenital disorder of glycosylation type IIs
IMD47
immunodeficiency and hepatopathy with or without neurologic features

Definition

A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/27231034/

References

OMIM:300972
UMLS_CUI:C4310819

Ontology

Human Disease ( DOID:0112002 )

Relationships

is a type of: congenital disorder of glycosylation type II primary immunodeficiency disease X-linked recessive disease

congenital disorder of glycosylation type II primary immunodeficiency disease X-linked recessive disease Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations