Disease & disorder
mild phosphoribosylpyrophosphate synthetase superactivity
MONDO:0018463
Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
Loading mapped interventions…
MONDO disease family
Loading verified ontology relationships…
Recruiting studies by city
Loading research-site locations…
Trial status
Loading…
Trial phase
Loading…
Study start year
Loading…
Investigated drug interventions
Loading…
Background context
mild phosphoribosylpyrophosphate synthetase superactivity
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.