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.


Annotated Labels

  1. FDA Label for mycophenolic acid and HPRT1
  2. PMDA Label for mycophenolic acid and HPRT1
  3. HCSC Label for mycophenolic acid and HPRT1

last updated 10/25/2013

1. FDA Label for mycophenolic acid and HPRT1

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.

There's more of this label. Read more.


last updated 01/26/2015

2. PMDA Label for mycophenolic acid and HPRT1

Actionable PGx

Summary

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.

There's more of this label. Read more.


last updated 06/08/2015

3. HCSC Label for mycophenolic acid and HPRT1

Actionable PGx

Summary

The product monograph for mycophenolic acid (MYFORTIC) states that it should be avoid in patients with hereditary deficiencies of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT, encoded by HPRT1), such as Lesch-Nyhan and Kelley-Seegmiller syndrome.

There's more of this label. Read more.


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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Overview

Alternate Names:  HPRT; 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

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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 ?

Curated Information ?

Publications related to HPRT1: 8

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of childhood acute lymphoblastic leukemia. Pharmacogenomics. 2014. Lopez-Lopez Elixabet, 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
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

NCBI Gene:
3251
OMIM:
300322
300323
308000
UCSC Genome Browser:
NM_000194
RefSeq RNA:
NM_000194
RefSeq Protein:
NP_000185
RefSeq DNA:
NG_012329
NT_011786
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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