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 |