| H01078 | |
| H番号 | H01078 |
| 名称 | Fletcher因子欠乏症; プレカリクレイン欠乏症 |
| 概要 | Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal bleeding tendency, their blood showed much prolonged activated partial thromboplastin time and delayed thromboplastin generation but normal prothrombin time. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06514(H01078) Coagulation cascade |
| 病因遺伝子 | KLKB1 [HSA:3818] [KO:K01324] |
| 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: D68.8 OMIM: 612423 |
| 文献 | PMID:21091145 著者 Girolami A, Scarparo P, Candeo N, Lombardi AM タイトル Congenital prekallikrein deficiency. 雑誌 Expert Rev Hematol 3:685-95 (2010) DOI:10.1586/ehm.10.69 PMID:6902559 著者 Ragni MV, Lewis JH, Hasiba U, Spero JA タイトル Prekallikrein (Fletcher factor) deficiency in clinical disease states. 雑誌 Thromb Res 18:45-54 (1980) DOI:10.1016/0049-3848(80)90169-3 |