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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:0003460 | Decreased circulating total IgA |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0004313 | Decreased circulating antibody level |
| HP:0005180 | Tricuspid regurgitation |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0011463 | Childhood onset |
| HP:0011967 | Decreased circulating copper concentration |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0012347 | Abnormal protein N-linked glycosylation |
