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phosphoribosylpyrophosphate synthetase superactivity
Summary
- Synonym
-
- PRPP synthetase superactivity
- PRPS1 superactivity
- Definition
- An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.
- Super Class
- X-linked recessive disease inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111260
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase | |
| P60891 | Ribose-phosphate pyrophosphokinase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0009830 | Peripheral neuropathy |
| HP:0000707 | Abnormality of the nervous system |
| HP:0002149 | Hyperuricemia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001919 | Acute kidney injury |
| HP:0003240 | Increased phosphoribosylpyrophosphate synthetase level |
| HP:0001249 | Intellectual disability |
| HP:0000083 | Renal insufficiency |
| HP:0001999 | Abnormal facial shape |
