U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary Factor III Deficiency

MedGen UID:
1393364
•Concept ID:
C4330257
•
Disease or Syndrome

Definition

An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Factor III Deficiency

Professional guidelines

PubMed

The Chinese Society of Clinical Oncology (CSCO): Clinical guidelines for the diagnosis and treatment of gastric cancer, 2023.
Wang FH, Zhang XT, Tang L, Wu Q, Cai MY, Li YF, Qu XJ, Qiu H, Zhang YJ, Ying JE, Zhang J, Sun LY, Lin RB, Wang C, Liu H, Qiu MZ, Guan WL, Rao SX, Ji JF, Xin Y, Sheng WQ, Xu HM, Zhou ZW, Zhou AP, Jin J, Yuan XL, Bi F, Liu TS, Liang H, Zhang YQ, Li GX, Liang J, Liu BR, Shen L, Li J, Xu RH
Cancer Commun (Lond) 2024 Jan;44(1):127-172. Epub 2023 Dec 31 doi: 10.1002/cac2.12516. PMID: 38160327Free PMC Article
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Diagnosis and treatment of hereditary angioedema.
Canonica GW, Rossi O
Panminerva Med 2012 Sep;54(3):241-53. PMID: 22801442

Recent clinical studies

Etiology

Lewy bodies, iron, inflammation and neuromelanin: pathological aspects underlying Parkinson's disease.
Riederer P, Nagatsu T, Youdim MBH, Wulf M, Dijkstra JM, Sian-Huelsmann J
J Neural Transm (Vienna) 2023 May;130(5):627-646. Epub 2023 Apr 16 doi: 10.1007/s00702-023-02630-9. PMID: 37062012Free PMC Article
A Review of FXIa Inhibition as a Novel Target for Anticoagulation.
Koulas I, Spyropoulos AC
Hamostaseologie 2023 Feb;43(1):28-36. Epub 2023 Feb 20 doi: 10.1055/a-1984-7021. PMID: 36807817
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Venous thrombosis in athletes.
Grabowski G, Whiteside WK, Kanwisher M
J Am Acad Orthop Surg 2013 Feb;21(2):108-17. doi: 10.5435/JAAOS-21-02-108. PMID: 23378374

Diagnosis

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Sinnathamby ES, Issa PP, Roberts L, Norwood H, Malone K, Vemulapalli H, Ahmadzadeh S, Cornett EM, Shekoohi S, Kaye AD
Adv Ther 2023 Mar;40(3):814-827. Epub 2023 Jan 7 doi: 10.1007/s12325-022-02401-0. PMID: 36609679Free PMC Article
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Antithrombin.
Hepner M, Karlaftis V
Methods Mol Biol 2013;992:355-64. doi: 10.1007/978-1-62703-339-8_28. PMID: 23546728
Pathophysiology of hereditary angioedema.
Zuraw BL, Christiansen SC
Am J Rhinol Allergy 2011 Nov-Dec;25(6):373-8. doi: 10.2500/ajra.2011.25.3661. PMID: 22185738

Therapy

A Review of FXIa Inhibition as a Novel Target for Anticoagulation.
Koulas I, Spyropoulos AC
Hamostaseologie 2023 Feb;43(1):28-36. Epub 2023 Feb 20 doi: 10.1055/a-1984-7021. PMID: 36807817
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Laboratory Diagnostics in Thrombophilia.
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, Koné-Paut I, Lachmann HJ, Ozen S, Simon A, Zeft A, Calvo Penades I, Moutschen M, Quartier P, Kasapcopur O, Shcherbina A, Hofer M, Hashkes PJ, Van der Hilst J, Hara R, Bujan-Rivas S, Constantin T, Gul A, Livneh A, Brogan P, Cattalini M, Obici L, Lheritier K, Speziale A, Junge G
N Engl J Med 2018 May 17;378(20):1908-1919. doi: 10.1056/NEJMoa1706314. PMID: 29768139
Bradykinin-mediated diseases.
Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394

Prognosis

Whole-exome sequencing reveals a novel frameshift mutation in a consanguineous family with a hereditary coagulation factor XII deficiency.
Ren S, Cai D, Xiao L, Shen H, Ren C
Clin Biochem 2023 Aug;118:110602. Epub 2023 Jun 28 doi: 10.1016/j.clinbiochem.2023.110602. PMID: 37391120
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Venous thrombosis in athletes.
Grabowski G, Whiteside WK, Kanwisher M
J Am Acad Orthop Surg 2013 Feb;21(2):108-17. doi: 10.5435/JAAOS-21-02-108. PMID: 23378374
Hereditary angioedema in childhood: an approach to management.
Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ
Paediatr Drugs 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. PMID: 20593909
The balance between von-Willebrand factor and its cleaving protease ADAMTS13: biomarker in systemic inflammation and development of organ failure?
Claus RA, Bockmeyer CL, Sossdorf M, Lösche W
Curr Mol Med 2010 Mar;10(2):236-48. doi: 10.2174/156652410790963367. PMID: 20196724

Clinical prediction guides

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
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
Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency.
Dossenbach-Glaninger A, Hopmeier P
Blood Coagul Fibrinolysis 2005 Jun;16(4):231-8. doi: 10.1097/01.mbc.0000169214.62560.a5. PMID: 15870541
Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia.
Seligsohn U, Peretz H
Haemostasis 1994 Mar-Apr;24(2):81-5. doi: 10.1159/000217088. PMID: 7959366

Recent systematic reviews

Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports.
Girolami A, Rolland C, Sexton D, Vardi M, Bernstein JA
Allergy Asthma Proc 2020 Jan 17;41(1):10-18. doi: 10.2500/aap.2020.41.190005. PMID: 31888778

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...