Phosphoribosylpyrophosphate Synthetase Superactivity (PRPS1 SUPERACTIVITY)

Alias:
Prps1 Superactivity
Prpp Synthetase Superactivity
Gout, Prps-Related
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Superactivity, Phosphoribosylpyrophosphate Synthetase
Severe Prpp Synthetase Superactivity
Mild Prpp Synthetase Superactivity
Prpp Synthetase Overactivity
Severe Prps1 Superactivity
Mild Prps1 Superactivity
Prs Superactivity
Prps-Related Gout
Prs Overactivity
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphoribosylpyrophosphate Synthetase Superactivity, also known as prps1 superactivity, is related to disorder of purine metabolism and gout. An important gene associated with Phosphoribosylpyrophosphate Synthetase Superactivity is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include kidney and eye, and related phenotypes are ataxia and sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
13
299
32

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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