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
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4860 PNP purine nucleoside phosphorylase
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 49 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024