KEGG DISEASE: Inherited thrombophilia

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H00223  Inherited thrombophilia
Immune system
  nt06514  Coagulation cascade
   H00223  Inherited thrombophilia

Pathway

hsa04610

Complement and coagulation cascades

hsa04611

Platelet activation

hsa04613

Neutrophil extracellular trap formation

hsa04148

Efferocytosis

Network

nt06514 Coagulation cascade
nt06535 Efferocytosis

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

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

Reference

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

Reference

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

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

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