Details of Disease

General Information of Disease (ID: DISM8343)

Disease Name Severe phosphoribosylpyrophosphate synthetase superactivity
Synonyms severe PRPS1 superactivity; severe PRPP synthetase superactivity
Definition
Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
Disease Hierarchy
DISD5WC1: Phosphoribosylpyrophosphate synthetase superactivity
DISM8343: Severe phosphoribosylpyrophosphate synthetase superactivity
Disease Identifiers
MONDO ID
MONDO_0018464
UMLS CUI
C5680017
MedGen ID
1843045
Orphanet ID
411543

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRPS1 OTN3A6CN Supportive X-linked [1]
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References

1 Phosphoribosylpyrophosphate Synthetase Superactivity. 2008 Sep 23 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.