KEGG   DISEASE: Inherited thrombophilia
Entry
H00223                      Disease                                
Name
Inherited thrombophilia;
Thrombophilia due to thrombin defect (THPH)
  Subgroup
Antithrombin III deficiency [DS:H01381]
Congenital dysfibrinogenemia [DS:H00222]
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
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00223  Inherited thrombophilia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B61  Thrombophilia
    H00223  Inherited thrombophilia
Related
pathway
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa04613  Neutrophil extracellular trap formation
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]
Other DBs
ICD-11: 3B61.0
ICD-10: D68.2
OMIM: 188050 188055 176860 612304 612336 613118 300807 612356 613116 614486 301071 616004
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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)
Reference
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)
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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

» Japanese version

DBGET integrated database retrieval system