| H01254 | |
| H番号 | H01254 |
| 名称 | プロトロンビン欠乏症 |
| 概要 | Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06514(H01254) Coagulation cascade |
| 病因遺伝子 | F2 [HSA:2147] [KO:K01313] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B14 ICD-10: D68 OMIM: 613679 |
| 文献 | PMID:19141155 著者 Meeks SL, Abshire TC タイトル Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 雑誌 Haemophilia 14:1159-63 (2008) DOI:10.1111/j.1365-2516.2008.01832.x PMID:21692854 著者 Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A タイトル A severe neonatal presentation of factor II deficiency. 雑誌 Eur J Haematol 87:464-6 (2011) DOI:10.1111/j.1600-0609.2011.01670.x |