| H00945 | |
| H番号 | H00945 |
| 名称 | 先天性第XIII因子欠乏症 |
| 概要 | Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06514(H00945) Coagulation cascade |
| 病因遺伝子 | F13A1 [HSA:2162] [KO:K03917] F13B [HSA:2165] [KO:K03906] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | 乾燥濃縮人血液凝固第XIII因子 [DR:D08802] カトリデカコグ [DR:D10532] |
| コメント | - |
| リンク | ICD-11: 3B14.Z ICD-10: D68.2 OMIM: 613225 613235 |
| 文献 | PMID:19141159 著者 Hsieh L, Nugent D タイトル Factor XIII deficiency. 雑誌 Haemophilia 14:1190-200 (2008) DOI:10.1111/j.1365-2516.2008.01857.x PMID:9028951 著者 Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A タイトル Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. 雑誌 Blood 89:1279-87 (1997) |