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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chediak-Higashi syndrome


Other Names for this Disease
  • Chediak Higashi syndrome
  • CHS
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Overview

Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can become life-threatening. It is caused by mutations in the LYST gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 11/7/2011

References

  1. Chediak Higashi syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome. Accessed 11/7/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chediak-Higashi syndrome. 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • 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 Chediak-Higashi syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chediak Higashi syndrome
  • CHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.