Gene:
HPRT1
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.


last updated 10/25/2013

FDA Label for mycophenolic acid and HPRT1

This label is on the FDA Biomarker List
Actionable PGx

Summary

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.

Annotation

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.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Leukopenia
    • Warnings section, Adverse reactions section, Precautions section
    • source: PHONT
  • HPRT1
    • Warnings and precautions section, toxicity
    • source: FDA 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.

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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?

Overview

Alternate Names:  Lesch-Nyhan syndrome
Alternate Symbols:  HGPRT
PharmGKB Accession Id: PA29427

Details

Cytogenetic Location: chrX : q26.1 - q26.3
GP mRNA Boundary: chrX : 133594175 - 133634698
GP Gene Boundary: chrX : 133584175 - 133637698
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

External Pathways

Links to non-PharmGKB pathways.

  1. Ribonucleotide salvage - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
mycophenolic acid
No related diseases are available

Publications related to HPRT1: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Human mutation. 2004. Duan Jianxin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003. Ross Mary E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Purine enzymes in patients with rheumatoid arthritis treated with methotrexate. Annals of the rheumatic diseases. 2002. van Ede A E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Thiopurine treatment in childhood leukemia. Metabolic aspects and sensitivity. Advances in experimental medicine and biology. 1998. De Abreu R A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Biochemical mechanism of resistance of cultured sarcoma 180 cells to 6-thioguanine. Biochemical pharmacology. 1981. Lee S H, et al. PubMed

LinkOuts

Entrez Gene:
3251
OMIM:
300322
300323
308000
UCSC Genome Browser:
NM_000194
RefSeq RNA:
NM_000194
RefSeq Protein:
NP_000185
RefSeq DNA:
AC_000066
AC_000155
NC_000023
NG_012329
NT_011786
NW_001842400
NW_927721
UniProtKB:
HPRT_HUMAN (P00492)
Ensembl:
ENSG00000165704
GenAtlas:
HPRT1
GeneCard:
HPRT1
MutDB:
HPRT1
ALFRED:
LO000365O
HuGE:
HPRT1
Comparative Toxicogenomics Database:
3251
ModBase:
P00492
HumanCyc Gene:
HS09275
HGNC:
5157

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