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Pearson syndrome

Disease definition

Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.

ORPHA:699

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Mitochondrial inheritance or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D64.0
  • OMIM: 557000
  • UMLS: C0342773  C0342784
  • MeSH: -
  • GARD: 7343
  • MedDRA: 10062941

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.