Other Names for this Disease
- Chediak Higashi syndrome
- Chédiak-Higashi disease
- Chédiak-Higashi syndrome
- Chédiak-Higashi-Steinbrink syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.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,
Last updated: 11/7/2011
- Chediak Higashi syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome. Accessed 11/7/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Chediak-Higashi syndrome. We will answer your question and update these pages with new resources and 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) 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.