Other Names for this Disease
- Pearson marrow-pancreas syndrome
- Pearson's marrow/pancreas syndrome
- Pearson's syndrome
- Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent
Last updated: 11/21/2011
- Rogers ZR, Quinn CT. Pearson Syndrome . eMedicine. January 25, 2010; http://emedicine.medscape.com/article/957186-overview#showall. Accessed 11/21/2011.
- DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes . GeneReviews. May 3, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1203/. Accessed 11/21/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Pearson syndrome. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference contains information on Pearson syndrome. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public. Click on the link to view information on this topic.
- 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.
- 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 Pearson syndrome. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.