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Genetic and Rare Diseases Information Center (GARD)

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Pearson syndrome

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
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Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea.[1] 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.[1][2] Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.[2]  
Last updated: 11/21/2011


  1. Rogers ZR, Quinn CT. Pearson Syndrome . eMedicine. January 25, 2010; Accessed 11/21/2011.
  2. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes . GeneReviews. May 3, 2011; Accessed 11/21/2011.
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Basic 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. 

In Depth Information

  • 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.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.

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