National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

CYP2C19-related poor drug metabolism

Not a rare disease Not a rare disease
CYP2C19-related poor drug metabolism is a condition in which the body is unable to properly process certain types of medications such as clopidogrel, mephenytoin, omeprazole, and/or proguanil. As a result, these medications are less effective in affected people who are treated with them. The condition is caused by changes (mutations) in the CYP2C19 gene and is inherited in an autosomal recessive manner. Specific treatment is generally not necessary as affected people do not have additional signs and symptoms aside from poor drug metabolism. However, medications that are poorly metabolized may need to be prescribed in a modified dose or avoided entirely.[1][2]
Last updated: 1/28/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on CYP2C19-related poor drug metabolism. This website is maintained by the National Library of Medicine.
  • MyResults.org is hosted by the Children's Hospital of Philadelphia (CHOP) and entirely funded by the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH). Click on the link to access their information page on CYP2C19-related poor drug metabolism.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss CYP2C19-related poor drug metabolism. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. DRUG METABOLISM, POOR, CYP2C19-RELATED. OMIM. November 2015; http://omim.org/entry/609535.
  2. CYP2C19. Genetics Home Reference. December 2015; http://ghr.nlm.nih.gov/gene/CYP2C19.