KEGG   DISEASE: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
エントリ  
H00920                                                             
名称    
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
概要    
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.
カテゴリ  
先天性代謝異常症, ミトコンドリア病
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
パスウェイ 
hsa00190  Oxidative phosphorylation
病因遺伝子 
COX4I2 [HSA:84701] [KO:K02263]
コメント  
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.
リンク   
ICD-11: 5C53.2Y
MeSH: C567195
OMIM: 612714
文献    
PMID:19268275
  著者
Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O
  タイトル
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
  雑誌
Am J Hum Genet 84:412-7 (2009)
DOI:10.1016/j.ajhg.2009.02.006
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