| H00920 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | COX4I2 [HSA:84701] [KO:K02263] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| 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 |