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Coagulation protein disease

MedGen UID:: 108723
•Concept ID:: C0600503
•: Disease or Syndrome

Synonyms:	Blood Coagulation Factor Deficiencies; Coagulation Protein Disorder; Coagulation Protein Disorders; Coagulation Proteins Disorder; Coagulation Proteins Disorders; Disorder, Coagulation Protein; Disorder, Coagulation Proteins; Disorders, Coagulation Protein; Disorders, Coagulation Proteins; Protein Disorder, Coagulation; Protein Disorders, Coagulation; Proteins Disorder, Coagulation; Proteins Disorders, Coagulation

Monarch Initiative:	MONDO:0002242

Definition

Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCoagulation protein disease

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation protein disease
        Afibrinogenemia
        Congenital factor V deficiency
        Factor VII deficiency
        Acquired factor VII deficiency
        Factor VII Inactivation
        Congenital factor VII deficiency
        Factor X deficiency
        Acquired factor X deficiency
        Factor X Inactivation
        Hereditary factor X deficiency disease
        Factor XII deficiency disease
        Acquired Factor XII Deficiency
        Factor XII Inactivation
        Hereditary factor XII deficiency disease
        Hereditary factor IX deficiency disease
        Hemophilia B Brandenburg
        Hemophilia B leyden
        Hemophilia b(m)
        Mild hemophilia B
        Moderately severe hemophilia B
        Severe hemophilia B
        Symptomatic form of hemophilia B in female carriers
        Hereditary factor VIII deficiency disease
        Hemophilia A with vascular abnormality
        Mild hemophilia A
        Moderately severe hemophilia A
        Severe hemophilia A
        Symptomatic form of hemophilia A in female carriers
        Hereditary factor XI deficiency disease
        Hereditary factor XIII deficiency disease
        Prothrombin deficiency
        Acquired hypoprothrombinemia
        Factor II Inactivation
        Congenital prothrombin deficiency
        Resistance to activated protein C
        von Willebrand disorder
        Acquired von willebrand syndrome
        Hereditary von Willebrand disease
        Pseudo von Willebrand disease
        von Willebrand disease type 1
        von Willebrand disease type 2
        von Willebrand disease type 3
        Von Willebrand disease, X-linked form
        Von Willebrand disease type 2A
        Von Willebrand disease type 2B
        von Willebrand disease type 2M
        von Willebrand disease type 2N

Professional guidelines

PubMed

Disseminated intravascular coagulation: epidemiology, biomarkers, and management.

Adelborg K, Larsen JB, Hvas AM
Br J Haematol 2021 Mar;192(5):803-818. Epub 2021 Feb 8 doi: 10.1111/bjh.17172. PMID: 33555051

Diagnosis and Treatment of Hyponatremia: Compilation of the Guidelines.

Hoorn EJ, Zietse R
J Am Soc Nephrol 2017 May;28(5):1340-1349. Epub 2017 Feb 7 doi: 10.1681/ASN.2016101139. PMID: 28174217 Free PMC Article

Clinical practice guideline on diagnosis and treatment of hyponatraemia.

Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

See all (2324)

Recent clinical studies

Etiology

Pathophysiology and management of bleeding and thrombosis in patients with liver disease.

van den Boom BP, Lisman T
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):79-88. Epub 2022 Apr 21 doi: 10.1111/ijlh.13856. PMID: 35446468 Free PMC Article

Interplay between platelets and coagulation.

Sang Y, Roest M, de Laat B, de Groot PG, Huskens D
Blood Rev 2021 Mar;46:100733. Epub 2020 Jul 12 doi: 10.1016/j.blre.2020.100733. PMID: 32682574 Free PMC Article

Uncertain thrombophilia markers.

Franchini M, Martinelli I, Mannucci PM
Thromb Haemost 2016 Jan;115(1):25-30. Epub 2015 Aug 13 doi: 10.1160/TH15-06-0478. PMID: 26271270

Protein C and protein S deficiency - practical diagnostic issues.

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Plasma fibrinogen.

Lowe GD, Rumley A, Mackie IJ
Ann Clin Biochem 2004 Nov;41(Pt 6):430-40. doi: 10.1258/0004563042466884. PMID: 15588432

See all (18266)

Diagnosis

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Interplay between platelets and coagulation.

Sang Y, Roest M, de Laat B, de Groot PG, Huskens D
Blood Rev 2021 Mar;46:100733. Epub 2020 Jul 12 doi: 10.1016/j.blre.2020.100733. PMID: 32682574 Free PMC Article

Guidance from the Scientific and Standardization Committee for lupus anticoagulant/antiphospholipid antibodies of the International Society on Thrombosis and Haemostasis: Update of the guidelines for lupus anticoagulant detection and interpretation.

Devreese KMJ, de Groot PG, de Laat B, Erkan D, Favaloro EJ, Mackie I, Martinuzzo M, Ortel TL, Pengo V, Rand JH, Tripodi A, Wahl D, Cohen H
J Thromb Haemost 2020 Nov;18(11):2828-2839. doi: 10.1111/jth.15047. PMID: 33462974

Uncertain thrombophilia markers.

Franchini M, Martinelli I, Mannucci PM
Thromb Haemost 2016 Jan;115(1):25-30. Epub 2015 Aug 13 doi: 10.1160/TH15-06-0478. PMID: 26271270

Protein C and protein S deficiency - practical diagnostic issues.

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

See all (12336)

Therapy

Haemostatic alterations and management of haemostasis in patients with cirrhosis.

Lisman T, Caldwell SH, Intagliata NM
J Hepatol 2022 Jun;76(6):1291-1305. doi: 10.1016/j.jhep.2021.11.004. PMID: 35589251

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

Curcumin, hemostasis, thrombosis, and coagulation.

Keihanian F, Saeidinia A, Bagheri RK, Johnston TP, Sahebkar A
J Cell Physiol 2018 Jun;233(6):4497-4511. Epub 2017 Dec 26 doi: 10.1002/jcp.26249. PMID: 29052850

Protein C and protein S deficiency - practical diagnostic issues.

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Inflammation and coagulation in urticaria and angioedema.

Cugno M, Asero R, Tedeschi A, Lazzari R, Marzano AV
Curr Vasc Pharmacol 2012 Sep;10(5):653-8. doi: 10.2174/157016112801784558. PMID: 22272913

See all (15881)

Prognosis

The effects of coagulation factors on the risk of endometriosis: a Mendelian randomization study.

Li Y, Liu H, Ye S, Zhang B, Li X, Yuan J, Du Y, Wang J, Yang Y
BMC Med 2023 May 25;21(1):195. doi: 10.1186/s12916-023-02881-z. PMID: 37226166 Free PMC Article

COVID-19-associated coagulopathy and disseminated intravascular coagulation.

Asakura H, Ogawa H
Int J Hematol 2021 Jan;113(1):45-57. Epub 2020 Nov 7 doi: 10.1007/s12185-020-03029-y. PMID: 33161508 Free PMC Article

Fibrinolysis and the control of blood coagulation.

Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122 Free PMC Article

Protein C and protein S deficiency - practical diagnostic issues.

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Heat stroke.

Bouchama A, Knochel JP
N Engl J Med 2002 Jun 20;346(25):1978-88. doi: 10.1056/NEJMra011089. PMID: 12075060

See all (8812)

Clinical prediction guides

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2022 May;28 Suppl 4:68-76. doi: 10.1111/hae.14548. PMID: 35521729

AGA Clinical Practice Update: Coagulation in Cirrhosis.

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390

Uncertain thrombophilia markers.

Franchini M, Martinelli I, Mannucci PM
Thromb Haemost 2016 Jan;115(1):25-30. Epub 2015 Aug 13 doi: 10.1160/TH15-06-0478. PMID: 26271270

Fibrinolysis and the control of blood coagulation.

Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122 Free PMC Article

Protein C and protein S deficiency - practical diagnostic issues.

Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

See all (12190)

Recent systematic reviews

Antioxidant vitamins supplementation reduce endometriosis related pelvic pain in humans: a systematic review and meta-analysis.

Zheng SH, Chen XX, Chen Y, Wu ZC, Chen XQ, Li XL
Reprod Biol Endocrinol 2023 Aug 29;21(1):79. doi: 10.1186/s12958-023-01126-1. PMID: 37644533 Free PMC Article

Pulmonary Embolism and Deep Vein Thrombosis in COVID-19: A Systematic Review and Meta-Analysis.

Suh YJ, Hong H, Ohana M, Bompard F, Revel MP, Valle C, Gervaise A, Poissy J, Susen S, Hékimian G, Artifoni M, Periard D, Contou D, Delaloye J, Sanchez B, Fang C, Garzillo G, Robbie H, Yoon SH
Radiology 2021 Feb;298(2):E70-E80. Epub 2020 Dec 15 doi: 10.1148/radiol.2020203557. PMID: 33320063 Free PMC Article

D-dimer level in COVID-19 infection: a systematic review.

Rostami M, Mansouritorghabeh H
Expert Rev Hematol 2020 Nov;13(11):1265-1275. Epub 2020 Oct 12 doi: 10.1080/17474086.2020.1831383. PMID: 32997543

Hematological findings and complications of COVID-19.

Terpos E, Ntanasis-Stathopoulos I, Elalamy I, Kastritis E, Sergentanis TN, Politou M, Psaltopoulou T, Gerotziafas G, Dimopoulos MA
Am J Hematol 2020 Jul;95(7):834-847. Epub 2020 May 23 doi: 10.1002/ajh.25829. PMID: 32282949 Free PMC Article

Acute Aortic Dissection and Intramural Hematoma: A Systematic Review.

Mussa FF, Horton JD, Moridzadeh R, Nicholson J, Trimarchi S, Eagle KA
JAMA 2016 Aug 16;316(7):754-63. doi: 10.1001/jama.2016.10026. PMID: 27533160

See all (343)

MedGen

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Coagulation protein disease

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

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