Details of Disease

General Information of Disease (ID: DISD5WC1)

• Disease Name: Phosphoribosylpyrophosphate synthetase superactivity
• Synonyms: gout, PRPS-related; gout, PRPS-related, X-linked recessive; PRPP synthetase superactivity; PRPS1 superactivity; phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive; phosphoribosylpyrophosphate synthetase superactivity
• Definition: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).
• Disease Hierarchy:
  DISQZI8H: Inborn disorder of purine metabolism
  DISD5WC1: Phosphoribosylpyrophosphate synthetase superactivity
• Disease Identifiers:
  MONDO ID: MONDO_0010395
  MESH ID: C567064
  UMLS CUI: C1970827
  OMIM ID: 300661
  MedGen ID: 370358
  Orphanet ID: 3222
  SNOMED CT ID: 723454008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADK	TTL732K	Definitive	Altered Expression	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADSL	OTSNJALL	Definitive	Biomarker	[1]
PRPS1	OTN3A6CN	Definitive	X-linked	[2]

References

• [1] Inborn errors of purine metabolism: clinical update and therapies.J Inherit Metab Dis. 2014 Sep;37(5):669-86. doi: 10.1007/s10545-014-9731-6. Epub 2014 Jun 28.
• [2] Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. J Clin Invest. 1975 Nov;56(5):1093-9. doi: 10.1172/JCI108183.