Other Names for this Disease
- Chediak Higashi syndrome
- Chédiak-Higashi disease
- Chédiak-Higashi syndrome
- Chédiak-Higashi-Steinbrink syndrome
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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.
- Genetics Home Reference (GHR) contains information on Chediak-Higashi syndrome. This website is maintained by the National Library of Medicine.
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- 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.
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- 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.