| H00941 | |
| H番号 | H00941 |
| 名称 | 先天性第XII因子欠乏症 |
| 概要 | Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06514(H00941) Coagulation cascade |
| 病因遺伝子 | F12 [HSA:2161] [KO:K01328] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B15 ICD-10: D68.2 OMIM: 234000 |
| 文献 | PMID:20022081 著者 Stavrou E, Schmaier AH タイトル Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis. 雑誌 Thromb Res 125:210-5 (2010) DOI:10.1016/j.thromres.2009.11.028 PMID:16324213 著者 D'Uva M, Strina I, Mollo A, Ranieri A, De Placido G, Di Micco P タイトル Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. 雑誌 J Transl Med 3:43 (2005) DOI:10.1186/1479-5876-3-43 PMID:18294355 著者 Matsubayashi H, Sugi T, Suzuki T, Uchida N, Atsumi H, Izumi S, Mikami M タイトル Decreased factor XII activity is associated with recurrent IVF-ET failure. 雑誌 Am J Reprod Immunol 59:316-22 (2008) DOI:10.1111/j.1600-0897.2007.00564.x |