Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002313 | Spastic paraparesis |
| HP:0001257 | Spasticity |
| HP:0005363 | Humoral immunodeficiency |
| HP:0000752 | Hyperactivity |
| HP:0002843 | Abnormal T cell morphology |
| HP:0001888 | Lymphopenia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0003537 | Hypouricemia |
| HP:0001251 | Ataxia |
