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Genetic and Rare Diseases Information Center (GARD)

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Xeroderma pigmentosum


Other Names for this Disease

  • Xeroderma pigmentosa
  • XP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner.[1]
Last updated: 10/21/2010

References

  1. Xeroderma pigmentosum. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum. Accessed 10/21/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Xeroderma pigmentosum. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Clinical Center at the National Institutes of Health (NIH) has published an online information page about xeroderma pigmentosum. Visit the above link to access this information.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Xeroderma pigmentosum. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Xeroderma pigmentosa
  • XP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.