| H00223 | |
| H番号 | H00223 |
| 名称 | 遺伝性血栓性素因 |
| 概要 | Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06514 Coagulation cascade |
| 病因遺伝子 | (THPH1) F2 [HSA:2147] [KO:K01313] (THPH2) F5 [HSA:2153] [KO:K03902] (THPH3/4) PROC [HSA:5624] [KO:K01344] (THPH5/6) PROS1 [HSA:5627] [KO:K03908] (THPH7) SERPINC1 [HSA:462] [KO:K03911] (THPH8) F9 [HSA:2158] [KO:K01321] (THPH10) SERPIND1 [HSA:3053] [KO:K03912] (THPH11) HRG [HSA:3273] [KO:K23410] (THPH12) THBD [HSA:7056] [KO:K03907] (THPH13) F8 [HSA:2157] [KO:K03899] FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B61.0 ICD-10: D68.2 OMIM: 188050 188055 176860 612304 612336 613118 300807 612356 613116 614486 301071 616004 |
| 文献 | PMID:12787534 著者 Buchanan GS, Rodgers GM, Ware Branch D タイトル The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. 雑誌 Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003) DOI:10.1016/S1521-6934(03)00010-5 PMID:17024597 著者 Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P タイトル Inherited thrombophilia and venous thromboembolism. 雑誌 Semin Thromb Hemost 32:700-8 (2006) DOI:10.1055/s-2006-951298 PMID:18574041 著者 Dahlback B タイトル Advances in understanding pathogenic mechanisms of thrombophilic disorders. 雑誌 Blood 112:19-27 (2008) DOI:10.1182/blood-2008-01-077909 PMID:31577252 (THPH, FGA, FGB, FGG) 著者 Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M タイトル Hereditary thrombophilia. 雑誌 Acta Biomed 90:44-46 (2019) DOI:10.23750/abm.v90i10-S.8758 PMID:22716977 (THPH1) 著者 Miyawaki Y, Suzuki A, Fujita J, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Kunishima S, Sakai M, Okamoto K, Matsushita T, Naoe T, Saito H, Kojima T タイトル Thrombosis from a prothrombin mutation conveying antithrombin resistance. 雑誌 N Engl J Med 366:2390-6 (2012) DOI:10.1056/NEJMoa1201994 PMID:8164741 (THPH2) 著者 Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH タイトル Mutation in blood coagulation factor V associated with resistance to activated protein C. 雑誌 Nature 369:64-7 (1994) DOI:10.1038/369064a0 PMID:2437584 (THPH3) 著者 Romeo G, Hassan HJ, Staempfli S, Roncuzzi L, Cianetti L, Leonardi A, Vicente V, Mannucci PM, Bertina R, Peschle C, et al. タイトル Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. 雑誌 Proc Natl Acad Sci U S A 84:2829-32 (1987) DOI:10.1073/pnas.84.9.2829 PMID:10942114 (THPH4) 著者 Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN タイトル Molecular genetic analysis of severe protein C deficiency. 雑誌 Hum Genet 106:646-53 (2000) DOI:10.1007/s004390000315 PMID:7545463 (THPH5) 著者 Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EG, Kakkar VV, Cooper DN タイトル Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. 雑誌 Blood 86:2632-41 (1995) PMID:10063989 (THPH6) 著者 Pung-amritt P, Poort SR, Vos HL, Bertina RM, Mahasandana C, Tanphaichitr VS, Veerakul G, Kankirawatana S, Suvatte V タイトル Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. 雑誌 Thromb Haemost 81:189-92 (1999) PMID:6582486 (THPH7) 著者 Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N タイトル Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. 雑誌 Proc Natl Acad Sci U S A 81:289-93 (1984) DOI:10.1073/pnas.81.2.289 PMID:19846852 (THPH8) 著者 Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR タイトル X-linked thrombophilia with a mutant factor IX (factor IX Padua). 雑誌 N Engl J Med 361:1671-5 (2009) DOI:10.1056/NEJMoa0904377 PMID:2647747 (THPH10) 著者 Blinder MA, Andersson TR, Abildgaard U, Tollefsen DM タイトル Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. 雑誌 J Biol Chem 264:5128-33 (1989) DOI:10.1016/S0021-9258(18)83708-5 PMID:9414276 (THPH11) 著者 Shigekiyo T, Yoshida H, Matsumoto K, Azuma H, Wakabayashi S, Saito S, Fujikawa K, Koide T タイトル HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. 雑誌 Blood 91:128-33 (1998) DOI:10.1182/blood.V91.1.128 PMID:22036808 (THPH12) 著者 Anastasiou G, Gialeraki A, Merkouri E, Politou M, Travlou A タイトル Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis. 雑誌 Blood Coagul Fibrinolysis 23:1-10 (2012) DOI:10.1097/MBC.0b013e32834cb271 PMID:33275657 (THPH13) 著者 Simioni P, Cagnin S, Sartorello F, Sales G, Pagani L, Bulato C, Gavasso S, Nuzzo F, Chemello F, Radu CM, Tormene D, Spiezia L, Hackeng TM, Campello E, Castoldi E タイトル Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia. 雑誌 Blood 137:2383-2393 (2021) DOI:10.1182/blood.2020008168 |