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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pearson syndrome


Other Names for this Disease
  • Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
  • Pearson's marrow/pancreas syndrome
  • Pearson's syndrome
  • Pearson marrow-pancreas syndrome
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Overview

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

References

  1. Rogers ZR, Quinn CT. Pearson Syndrome . eMedicine. January 25, 2010; http://emedicine.medscape.com/article/957186-overview#showall. Accessed 11/21/2011.
  2. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes . GeneReviews. May 3, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1203/. 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.
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In Depth Information

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