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 annotates drug labels containing pharmacogenetic information approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA) and the Pharmaceuticals and Medical Devices Agency, Japan (PMDA). PharmGKB annotations provide a brief summary of the PGx in the label, an excerpt from the label and a downloadable highlighted label PDF file. A list of genes and phenotypes found within the label is mapped to label section headers and listed at the end of each annotation. PharmGKB also attempts to interpret the level of action implied in each label with the "PGx Level" tag.
- FDA Information is gathered from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" and from FDA-approved labels brought to our attention. Please note that drugs may be removed from or added to the FDA's Table without our knowledge. We periodically check the Table for changes and update PharmGKB accordingly. Drugs listed on the Table to our knowledge are tagged with the Biomarker icon. A drug label that has been removed from the Table will not have the Biomarker icon but will continue to have an annotation on PharmGKB stating the label has been removed from the FDA's Table. We acquire label PDF files from DailyMed.
- EMA European Public Assessment Reports (EPARs) that contain PGx information were identified from [Article:24433361] and also by searching for drugs for which we have PGx-containing FDA drug labels.
- PMDA Japanese drug label annotation information is sourced from Shimazawa and Ikeda (2013), whose paper provided translations of the pharmacogenetic information contained in PMDA package inserts. The authors selected which PMDA package inserts to examine for PGx information based the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels".
We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA, PMDA 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.
*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.
Genes and/or phenotypes found in this label
The PMDA package insert for mycophenolic acid notes that it should be avoided in patients with hereditary deficiency of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) such as Lesch-Nyhan and Kelley-Seegmiller syndromes, due to the risk for exacerbation of hyperuricemia.
Please note that the information contained within this drug label annotation is sourced from Shimazawa and Ikeda (2013), whose paper provided an unofficial translation of the pharmacogenetic information contained in the PMDA package insert for research purposes.
Excerpt from the package insert for mycophenolic acid:
Mycophenolic Acid is an inosine monophosphate dehydrogenase (IMPDH) inhibitor. Therefore, it should be avoided in patients with hereditary deficiencies of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) such as Lesch-Nyhan and Kelley-Seegmiller syndrome, because hyperuricemia could be exacerbated by mycophenolic acid.
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the mycophenolic acid package insert (in Japanese).
*Disclaimer: The contents of this page have not been endorsed by the PMDA and are the sole responsibility of PharmGKB.
Genes and/or phenotypes found in this label
- Precautions section, toxicity
- source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
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:||HPRT; 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: 8
The following icons indicate that data of a certain type is available:
- DG Dosing Guideline information is available
- DL Drug Label information is available
- CA High-level Clinical Annotation is available
- VA Variant Annotation is available
- VIP VIP information is available
- PW Pathway is available
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