Other Names for this Disease
- Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)
- Pearson's marrow/pancreas syndrome
- Pearson's syndrome
- Pearson marrow-pancreas syndrome
- Mitochondrial DNA Deletion Syndromes
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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.
- 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 Pearson syndrome. Click on the link to view a sample search on this topic.