KEGG   DISEASE: H00920Help
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. Mutatioins in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, leads to failure to absorb fat and deficiency of fat-soluble vitamins.
Category
Metabolic disease; Pancreas disease; Hematologic disease; Skeletal dysplasia
BRITE hierarchy
Pathway
Oxidative phosphorylation
Metabolic pathways
Gene
COX4I2 [HSA:84701] [KO:K02263]
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
MeSH: 
OMIM: 
Reference
PMID:19268275 (description, gene)
  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)

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