Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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

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

Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations.

Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

See all (2342)

Recent clinical studies

Etiology

Clinical use of thrombin generation assays.

Binder NB, Depasse F, Mueller J, Wissel T, Schwers S, Germer M, Hermes B, Turecek PL
J Thromb Haemost 2021 Dec;19(12):2918-2929. Epub 2021 Oct 8 doi: 10.1111/jth.15538. PMID: 34592058 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

Age dependency for coagulation parameters in paediatric populations. Results of a multicentre study aimed at defining the age-specific reference ranges.

Toulon P, Berruyer M, Brionne-François M, Grand F, Lasne D, Telion C, Arcizet J, Giacomello R, De Pooter N
Thromb Haemost 2016 Jul 4;116(1):9-16. Epub 2016 Mar 17 doi: 10.1160/TH15-12-0964. PMID: 26988943

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 (18473)

Diagnosis

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

Diagnostic strategies in disorders of hemostasis.

Hrachovinová I
Vnitr Lek 2018 Summer;64(5):537-544. PMID: 30193524

Kolev K, Longstaff C
Br J Haematol 2016 Oct;175(1):12-23. Epub 2016 Aug 1 doi: 10.1111/bjh.14255. PMID: 27477022 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 (12490)

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

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

Kolev K, Longstaff C
Br J Haematol 2016 Oct;175(1):12-23. Epub 2016 Aug 1 doi: 10.1111/bjh.14255. PMID: 27477022 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

Hemostasis and malignancy.

Francis JL, Biggerstaff J, Amirkhosravi A
Semin Thromb Hemost 1998;24(2):93-109. doi: 10.1055/s-2007-995829. PMID: 9579631

See all (16012)

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 (8933)

Clinical prediction guides

Clot Waveform Analysis for Hemostatic Abnormalities.

Wada H, Shiraki K, Matsumoto T, Shimpo H, Shimaoka M
Ann Lab Med 2023 Nov 1;43(6):531-538. Epub 2023 Jun 30 doi: 10.3343/alm.2023.43.6.531. PMID: 37387486 Free PMC Article

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

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

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 (12353)

Recent systematic reviews

Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.

Garred P, Tenner AJ, Mollnes TE
Pharmacol Rev 2021 Apr;73(2):792-827. doi: 10.1124/pharmrev.120.000072. PMID: 33687995 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

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

Vasopressors for the Treatment of Septic Shock: Systematic Review and Meta-Analysis.

Avni T, Lador A, Lev S, Leibovici L, Paul M, Grossman A
PLoS One 2015;10(8):e0129305. Epub 2015 Aug 3 doi: 10.1371/journal.pone.0129305. PMID: 26237037 Free PMC Article

See all (352)

MedGen

National Center for Biotechnology Information

Send to:

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

Recent activity