Pearson syndrome

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.

Disease data

Classification

Disease

ORPHA code

699

OMIM code

557000

ICD10 code

D64.0

ICD11 code

3A72.01

*Soruce