DISEASE: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Entry
H00920 Disease
Name
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Description
Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, lead to failure to absorb fat and deficiency of fat-soluble vitamins.
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes also show steatorrhea and malabsorption of lipid-soluble vitamin. In addition, Shwachman-Bodian-Diamond and Pearson syndromes are associated with hematologic dysfunction.