Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0002719 | Recurrent infections |
| HP:0003196 | Short nose |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003577 | Congenital onset |
| HP:0003819 | Death in childhood |
| HP:0004322 | Short stature |
| HP:0005280 | Depressed nasal bridge |
| HP:0008070 | Sparse hair |
| HP:0011220 | Prominent forehead |
