H00920 | |
H number | H00920 |
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. |
Category | Inherited metabolic disorder, Mitochondrial disease |
Network | - |
Gene | COX4I2 [HSA:84701] [KO:K02263] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | 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. |
Other DBs | ICD-11: 5C53.2Y MeSH: C567195 OMIM: 612714 |
Reference | PMID:19268275 AUTHORS Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O TITLE Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. JOURNAL Am J Hum Genet 84:412-7 (2009) DOI:10.1016/j.ajhg.2009.02.006 |