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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:phosphoribosylpyrophosphate synthetase superactivity
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Accession:DOID:0111260 term browser browse the term
Definition:An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)
Synonyms:exact_synonym: PRPP synthetase superactivity;   PRPS1 superactivity;   gout, PRPS-related
 primary_id: MESH:C567064
 alt_id: OMIM:300661;   RDO:0015242
 xref: ORDO:3222
For additional species annotation, visit the Alliance of Genome Resources.

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phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by OMIM:300661
ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity
PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          purine-pyrimidine metabolic disorder 45
            phosphoribosylpyrophosphate synthetase superactivity 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            X-linked monogenic disease 1022
              X-linked recessive disease 381
                phosphoribosylpyrophosphate synthetase superactivity 1
paths to the root