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Factor X activation deficiency

MedGen UID:: 870255
•Concept ID:: C4024693
•: Finding

HPO:	HP:0008354

Definition

Reduced ability to transform factor X into its activated form factor Xa. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFactor X activation deficiency

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Abnormality of the common coagulation pathway
        Reduced factor X activity
        Factor X activation deficiency

Conditions with this feature

SCOTT SYNDROME

MedGen UID:: 167107
•Concept ID:: C0796149
•: Disease or Syndrome

Scott syndrome (SCTS) is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003).

See: Condition Record

SCOTT SYNDROME

Professional guidelines

PubMed

The use of prophylaxis in the treatment of rare bleeding disorders.

Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204

Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.

Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217

Management and outcome of pregnancies in women with antithrombin deficiency: a single-center experience and review of literature.

Ilonczai P, Oláh Z, Selmeczi A, Kerényi A, Bereczky Z, Póka R, Schlammadinger Á, Boda Z
Blood Coagul Fibrinolysis 2015 Oct;26(7):798-804. doi: 10.1097/MBC.0000000000000348. PMID: 26226254

See all (20)

Recent clinical studies

Etiology

Prevalence, clinical characteristics and treatment outcome of factor X deficiency in a consecutive cohort of primary light-chain amyloidosis.

Gao YJ, Shen KN, Chang L, Feng J, Mao YY, Zhang L, Cao XX, Zhou DB, Li J
Leuk Res 2022 Sep;120:106917. Epub 2022 Jul 5 doi: 10.1016/j.leukres.2022.106917. PMID: 35849875

Use of plasma-derived factor X concentrate in neonates and infants with congenital factor X deficiency.

Zimowski KL, McGuinn CE, Abajas YL, Schultz CL, Kaicker S, Batsuli G
J Thromb Haemost 2020 Oct;18(10):2551-2556. Epub 2020 Jul 30 doi: 10.1111/jth.14985. PMID: 32613702

The use of prophylaxis in the treatment of rare bleeding disorders.

Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204

Emicizumab Prophylaxis in Hemophilia A with Inhibitors.

Oldenburg J, Mahlangu JN, Kim B, Schmitt C, Callaghan MU, Young G, Santagostino E, Kruse-Jarres R, Negrier C, Kessler C, Valente N, Asikanius E, Levy GG, Windyga J, Shima M
N Engl J Med 2017 Aug 31;377(9):809-818. Epub 2017 Jul 10 doi: 10.1056/NEJMoa1703068. PMID: 28691557

Factor X deficiency.

Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069

See all (119)

Diagnosis

Deficiency of the splicing factor RBM10 limits EGFR inhibitor response in EGFR-mutant lung cancer.

Nanjo S, Wu W, Karachaliou N, Blakely CM, Suzuki J, Chou YT, Ali SM, Kerr DL, Olivas VR, Shue J, Rotow J, Mayekar MK, Haderk F, Chatterjee N, Urisman A, Yeo JC, Skanderup AJ, Tan AC, Tam WL, Arrieta O, Hosomichi K, Nishiyama A, Yano S, Kirichok Y, Tan DS, Rosell R, Okimoto RA, Bivona TG
J Clin Invest 2022 Jul 1;132(13) doi: 10.1172/JCI145099. PMID: 35579943 Free PMC Article

Snake Venoms in Diagnostic Hemostasis and Thrombosis.

Moore GW
Semin Thromb Hemost 2022 Mar;48(2):145-160. Epub 2021 Aug 12 doi: 10.1055/s-0041-1732465. PMID: 34384127

Computationally Driven Discovery in Coagulation.

Link KG, Stobb MT, Monroe DM, Fogelson AL, Neeves KB, Sindi SS, Leiderman K
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):79-86. Epub 2020 Oct 29 doi: 10.1161/ATVBAHA.120.314648. PMID: 33115272 Free PMC Article

Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.

Factor X deficiency.

Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069

See all (133)

Therapy

Deficiency of the splicing factor RBM10 limits EGFR inhibitor response in EGFR-mutant lung cancer.

Coagulation, Protease-Activated Receptors, and Diabetic Kidney Disease: Lessons from eNOS-Deficient Mice.

Oe Y, Miyazaki M, Takahashi N
Tohoku J Exp Med 2021 Sep;255(1):1-8. doi: 10.1620/tjem.255.1. PMID: 34511578

A factor VIIIa-mimetic bispecific antibody, Mim8, ameliorates bleeding upon severe vascular challenge in hemophilia A mice.

Østergaard H, Lund J, Greisen PJ, Kjellev S, Henriksen A, Lorenzen N, Johansson E, Røder G, Rasch MG, Johnsen LB, Egebjerg T, Lund S, Rahbek-Nielsen H, Gandhi PS, Lamberth K, Loftager M, Andersen LM, Bonde AC, Stavenuiter F, Madsen DE, Li X, Holm TL, Ley CD, Thygesen P, Zhu H, Zhou R, Thorn K, Yang Z, Hermit MB, Bjelke JR, Hansen BG, Hilden I
Blood 2021 Oct 7;138(14):1258-1268. doi: 10.1182/blood.2020010331. PMID: 34077951 Free PMC Article

Emicizumab Prophylaxis in Hemophilia A with Inhibitors.

Factor X deficiency.

Menegatti M, Peyvandi F
Semin Thromb Hemost 2009 Jun;35(4):407-15. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225763. PMID: 19598069

See all (125)

Prognosis

Coagulation, Protease-Activated Receptors, and Diabetic Kidney Disease: Lessons from eNOS-Deficient Mice.

Oe Y, Miyazaki M, Takahashi N
Tohoku J Exp Med 2021 Sep;255(1):1-8. doi: 10.1620/tjem.255.1. PMID: 34511578

Acquired factor X deficiency in light-chain (AL) amyloidosis is rare and associated with advanced disease.

Patel G, Hari P, Szabo A, Rein L, Kreuziger LB, Chhabra S, Dhakal B, D'Souza A
Hematol Oncol Stem Cell Ther 2019 Mar;12(1):10-14. Epub 2018 Jun 28 doi: 10.1016/j.hemonc.2018.05.002. PMID: 30879471

Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

Pavlova A, Preisler B, Driesen J, de Moerloose P, Zieger B, Hütker S, Dengler K, Harbrecht U, Oldenburg J
Haemophilia 2015 May;21(3):386-391. Epub 2015 Jan 13 doi: 10.1111/hae.12604. PMID: 25582404

XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway.

Chen X, Iliopoulos D, Zhang Q, Tang Q, Greenblatt MB, Hatziapostolou M, Lim E, Tam WL, Ni M, Chen Y, Mai J, Shen H, Hu DZ, Adoro S, Hu B, Song M, Tan C, Landis MD, Ferrari M, Shin SJ, Brown M, Chang JC, Liu XS, Glimcher LH
Nature 2014 Apr 3;508(7494):103-107. Epub 2014 Mar 23 doi: 10.1038/nature13119. PMID: 24670641 Free PMC Article

Diagnosis and treatment of inherited factor X deficiency.

Brown DL, Kouides PA
Haemophilia 2008 Nov;14(6):1176-82. doi: 10.1111/j.1365-2516.2008.01856.x. PMID: 19141158

See all (56)

Clinical prediction guides

Prevalence, clinical characteristics and treatment outcome of factor X deficiency in a consecutive cohort of primary light-chain amyloidosis.

Gao YJ, Shen KN, Chang L, Feng J, Mao YY, Zhang L, Cao XX, Zhou DB, Li J
Leuk Res 2022 Sep;120:106917. Epub 2022 Jul 5 doi: 10.1016/j.leukres.2022.106917. PMID: 35849875

A factor VIIIa-mimetic bispecific antibody, Mim8, ameliorates bleeding upon severe vascular challenge in hemophilia A mice.

Computationally Driven Discovery in Coagulation.

The use of prophylaxis in the treatment of rare bleeding disorders.

Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204

Protein C.

Esmon CT
Prog Hemost Thromb 1984;7:25-54. PMID: 6099583

See all (173)