| H00223 | |
| H number | H00223 |
| Name | Inherited thrombophilia; Thrombophilia due to thrombin defect (THPH) |
| Description | 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. |
| Category | Hematologic disease |
| Network | nt06514 Coagulation cascade |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B61.0 ICD-10: D68.2 OMIM: 188050 188055 176860 612304 612336 613118 300807 612356 613116 614486 301071 616004 |
| Reference | PMID:12787534 AUTHORS Buchanan GS, Rodgers GM, Ware Branch D TITLE The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. JOURNAL Best Pract Res Clin Obstet Gynaecol 17:397-411 (2003) DOI:10.1016/S1521-6934(03)00010-5 PMID:17024597 AUTHORS Simioni P, Tormene D, Spiezia L, Tognin G, Rossetto V, Radu C, Prandoni P TITLE Inherited thrombophilia and venous thromboembolism. JOURNAL Semin Thromb Hemost 32:700-8 (2006) DOI:10.1055/s-2006-951298 PMID:18574041 AUTHORS Dahlback B TITLE Advances in understanding pathogenic mechanisms of thrombophilic disorders. JOURNAL Blood 112:19-27 (2008) DOI:10.1182/blood-2008-01-077909 PMID:31577252 (THPH, FGA, FGB, FGG) AUTHORS Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M TITLE Hereditary thrombophilia. JOURNAL Acta Biomed 90:44-46 (2019) DOI:10.23750/abm.v90i10-S.8758 PMID:22716977 (THPH1) AUTHORS 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 TITLE Thrombosis from a prothrombin mutation conveying antithrombin resistance. JOURNAL N Engl J Med 366:2390-6 (2012) DOI:10.1056/NEJMoa1201994 PMID:8164741 (THPH2) AUTHORS Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH TITLE Mutation in blood coagulation factor V associated with resistance to activated protein C. JOURNAL Nature 369:64-7 (1994) DOI:10.1038/369064a0 PMID:2437584 (THPH3) AUTHORS Romeo G, Hassan HJ, Staempfli S, Roncuzzi L, Cianetti L, Leonardi A, Vicente V, Mannucci PM, Bertina R, Peschle C, et al. TITLE Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. JOURNAL Proc Natl Acad Sci U S A 84:2829-32 (1987) DOI:10.1073/pnas.84.9.2829 PMID:10942114 (THPH4) AUTHORS Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN TITLE Molecular genetic analysis of severe protein C deficiency. JOURNAL Hum Genet 106:646-53 (2000) DOI:10.1007/s004390000315 PMID:7545463 (THPH5) AUTHORS 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 TITLE Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. JOURNAL Blood 86:2632-41 (1995) PMID:10063989 (THPH6) AUTHORS Pung-amritt P, Poort SR, Vos HL, Bertina RM, Mahasandana C, Tanphaichitr VS, Veerakul G, Kankirawatana S, Suvatte V TITLE Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. JOURNAL Thromb Haemost 81:189-92 (1999) PMID:6582486 (THPH7) AUTHORS Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N TITLE Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. JOURNAL Proc Natl Acad Sci U S A 81:289-93 (1984) DOI:10.1073/pnas.81.2.289 PMID:19846852 (THPH8) AUTHORS Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP, Finn JD, Spiezia L, Radu C, Arruda VR TITLE X-linked thrombophilia with a mutant factor IX (factor IX Padua). JOURNAL N Engl J Med 361:1671-5 (2009) DOI:10.1056/NEJMoa0904377 PMID:2647747 (THPH10) AUTHORS Blinder MA, Andersson TR, Abildgaard U, Tollefsen DM TITLE Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. JOURNAL J Biol Chem 264:5128-33 (1989) DOI:10.1016/S0021-9258(18)83708-5 PMID:9414276 (THPH11) AUTHORS Shigekiyo T, Yoshida H, Matsumoto K, Azuma H, Wakabayashi S, Saito S, Fujikawa K, Koide T TITLE HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. JOURNAL Blood 91:128-33 (1998) DOI:10.1182/blood.V91.1.128 PMID:22036808 (THPH12) AUTHORS Anastasiou G, Gialeraki A, Merkouri E, Politou M, Travlou A TITLE Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis. JOURNAL Blood Coagul Fibrinolysis 23:1-10 (2012) DOI:10.1097/MBC.0b013e32834cb271 PMID:33275657 (THPH13) AUTHORS 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 TITLE Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia. JOURNAL Blood 137:2383-2393 (2021) DOI:10.1182/blood.2020008168 |