| H01241 | |
| H番号 | H01241 |
| 名称 | 先天性横隔膜ヘルニア |
| 概要 | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ZFPM2 [HSA:23414] [KO:K17442] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB00.0 ICD-10: Q79.0 MeSH: C538080 OMIM: 610187 |
| 文献 | PMID:17436238 著者 Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA タイトル Genetic factors in congenital diaphragmatic hernia. 雑誌 Am J Hum Genet 80:825-45 (2007) DOI:10.1086/513442 PMID:16103912 著者 Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR タイトル Fog2 is required for normal diaphragm and lung development in mice and humans. 雑誌 PLoS Genet 1:58-65 (2005) DOI:10.1371/journal.pgen.0010010 |