Details of Disease

General Information of Disease (ID: DISN0ZAK)

Disease Name Mild phosphoribosylpyrophosphate synthetase superactivity
Synonyms mild PRPP synthetase superactivity; mild PRPS1 superactivity
Definition
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.
Disease Hierarchy
DISD5WC1: Phosphoribosylpyrophosphate synthetase superactivity
DISN0ZAK: Mild phosphoribosylpyrophosphate synthetase superactivity
Disease Identifiers
MONDO ID
MONDO_0018463
UMLS CUI
C5680016
MedGen ID
1843112
Orphanet ID
411536

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.