KEGG   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.
Category
Inherited metabolic disorder, Mitochondrial disease
Brite
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
Pathway
hsa00190  Oxidative phosphorylation
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
ICD-11: 5C53.2Y
MeSH: C567195
OMIM: 612714
Reference
  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
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