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Pearson syndrome

Disease definition

A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Mitochondrial inheritance or Not applicable 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: D64.0
  • ICD-11: 3A72.01
  • OMIM: 557000
  • UMLS: C0342784
  • MeSH: -
  • GARD: 7343
  • MedDRA: 10062941

Detailed information

General public


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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.