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immunodeficiency 47
Summary
- Synonym
-
- CDG IIs
- CDG2S
- CDGIIs
- IMD47
- congenital disorder of glycosylation type IIs
- 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.
- Super Class
- X-linked recessive disease congenital disorder of glycosylation type II primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0112002
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001873 | Thrombocytopenia |
| HP:0001882 | Leukopenia |
| HP:0001897 | Normocytic anemia |
| HP:0002028 | Chronic diarrhea |
| HP:0002240 | Hepatomegaly |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002719 | Recurrent infections |
| HP:0002850 | Decreased circulating total IgM |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003124 | Hypercholesterolemia |
