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
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  血液疾患
   H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
 消化器系疾患
  膵疾患
   H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
ICD-11 による疾患分類 [BR:jp08403]
 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
パスウェイ 
hsa00190  酸化的リン酸化
hsa01100  代謝パスウェイ
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    
  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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