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purine nucleoside phosphorylase deficiency
Summary
- Synonym
-
- PNP deficiency
- Purine-Nucleoside Phosphorylase deficiency
- deficiency of inosine phosphorylase
- Definition
- A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011935 | Decreased urinary urate |
| HP:0001276 | Hypertonia |
| HP:0002719 | Recurrent infections |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0002960 | Autoimmunity |
| HP:0001249 | Intellectual disability |
| HP:0011442 | Abnormal central motor function |
| HP:0001263 | Global developmental delay |
| HP:0002664 | Neoplasm |
