hypoxanthine phosphoribosyltransferase 1
PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.
PharmGKB gathers information regarding PGx on FDA drug labels from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels", and from FDA-approved FDA and EMA-approved (European Medicines Agency) EMA labels brought to our attention. Excerpts from the label and downloadable highlighted label PDFs are manually curated by PharmGKB.
Please note that some drugs may have been removed from or added to the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" without our knowledge. We periodically check the table for additions to this table and update PharmGKB accordingly.
There is currently no such list for European drug labels - we are working with the EMA to establish a list of European Public Assessment Reports (EPAR)s that contain PGx information. We are constructing this list by initially searching for drugs for which we have PGx-containing FDA drug labels - of these 44 EMA EPARs were identified and are being curated for pgx information.
We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA or other Medicine Agencies around the world - please contact feedback.
Myfortic is an IMPDH Inhibitor that should be avoided in patients with rare hereditary deficiency of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) such as Lesch-Nyhan and Kelley-Seegmiller syndrome.
The FDA Pharmacogenomic Biomarkers in Drug Labels table lists HGPRT as a biomarker for mycophenolic acid, with information contained in the Precautions section.
Excerpts from the mycophenolic acid (Myfortic) drug label:
Myfortic is an inosine monophosphate dehydrogenase inhibitor (IMPDH Inhibitor). Myfortic should be avoided in patients with rare hereditary deficiency of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) such as Lesch-Nyhan and Kelley-Seegmiller syndromes because it may cause an exacerbation of disease symptoms characterized by the overproduction and accumulation of uric acid leading to symptoms associated with gout such as acute arthritis, tophi, nephrolithiasis or urolithiasis and renal disease including renal failure.
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the mycophenolic acid (Myfortic) drug label.
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Genes and/or phenotypes found in this label
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.
A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).
|PGx Test||Variants Assayed||Related Drugs?|
|Alternate Names:||Lesch-Nyhan syndrome|
|Alternate Symbols: ||HGPRT|
|PharmGKB Accession Id:||PA29427|
|Cytogenetic Location:||chrX : q26.1 - q26.3|
|GP mRNA Boundary†:||chrX : 133594175 - 133634698|
|GP Gene Boundary†:||chrX : 133584175 - 133637698|
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
Links to non-PharmGKB pathways.
Publications related to HPRT1: 7
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