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Coagulation factor deficiency syndrome

MedGen UID:: 543969
•Concept ID:: C0272315
•: Disease or Syndrome

Synonyms:	Decreased coagulation factors; Deficiency of coagulation factors
SNOMED CT:	Coagulation factor deficiency syndrome (86075001); Coagulation factor disorder (86075001); Blood clotting factor deficiency disorder (86075001)

Definition

Includes both quantitative and qualitative disorders of procoagulants [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Coagulation factor deficiency syndrome

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation factor deficiency syndrome
        Acquired coagulation factor deficiency
        Acquired Factor I Deficiency
        Factor I Inactivation
        Acquired Factor III Deficiency
        Factor III Inactivation
        Acquired factor V deficiency
        Factor V Inactivation
        Acquired factor VII deficiency
        Factor VII Inactivation
        Acquired factor VIII deficiency disease
        Factor VIII Inactivation
        Acquired factor X deficiency
        Factor X Inactivation
        Acquired factor XI deficiency
        Factor XI Inactivation
        Acquired Factor XII Deficiency
        Factor XII Inactivation
        Acquired factor XIII deficiency
        Factor XIII Inactivation
        Acquired hemophilia B
        Factor IX Inactivation
        Acquired hypoprothrombinemia
        Factor II Inactivation
        Factor V deficiency
        Congenital factor V deficiency
        Factor VII deficiency
        Congenital factor VII deficiency
        Factor X deficiency
        Hereditary factor X deficiency disease
        Factor XII deficiency disease
        Hereditary factor XII deficiency disease
        Factor XIII deficiency
        Hereditary factor XIII deficiency disease
        Fibrinogen deficiency
        Afibrinogenemia
        Hereditary factor I deficiency disease
        Congenital afibrinogenemia
        Dysfibrinogenemia
        Familial hypodysfibrinogenemia
        Hemophilia
        Factor XI deficiency
        Hereditary factor XI 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 coagulation factor deficiency
        Congenital prothrombin deficiency
        Hereditary Factor III Deficiency
        Prothrombin deficiency
        Tissue Factor Deficiency

Professional guidelines

PubMed

EMAS position statement: Vitamin D and menopausal health.

Anagnostis P, Livadas S, Goulis DG, Bretz S, Ceausu I, Durmusoglu F, Erkkola R, Fistonic I, Gambacciani M, Geukes M, Hamoda H, Hartley C, Hirschberg AL, Meczekalski B, Mendoza N, Mueck A, Smetnik A, Stute P, van Trotsenburg M, Rees M, Lambrinoudaki I
Maturitas 2023 Mar;169:2-9. Epub 2022 Dec 21 doi: 10.1016/j.maturitas.2022.12.006. PMID: 36566517

Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.

Laurent MR, Goemaere S, Verroken C, Bergmann P, Body JJ, Bruyère O, Cavalier E, Rozenberg S, Lapauw B, Gielen E
Front Endocrinol (Lausanne) 2022;13:908727. Epub 2022 Jun 9 doi: 10.3389/fendo.2022.908727. PMID: 35757436 Free PMC Article

Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

Do C, Vasquez PC, Soleimani M
Am J Kidney Dis 2022 Oct;80(4):536-551. Epub 2022 May 5 doi: 10.1053/j.ajkd.2021.12.016. PMID: 35525634 Free PMC Article

See all (54)

Recent clinical studies

Etiology

Factor XI inhibitors: cardiovascular perspectives.

De Caterina R, Prisco D, Eikelboom JW
Eur Heart J 2023 Jan 21;44(4):280-292. doi: 10.1093/eurheartj/ehac464. PMID: 36263776

Factor XI Deficiency.

Lewandowska MD, Connors JM
Hematol Oncol Clin North Am 2021 Dec;35(6):1157-1169. Epub 2021 Sep 15 doi: 10.1016/j.hoc.2021.07.012. PMID: 34535287

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

Coagulation Testing in the Core Laboratory.

Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301

Coagulation disorders in liver disease.

Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081

See all (660)

Diagnosis

Osteomalacia Is Not a Single Disease.

Cianferotti L
Int J Mol Sci 2022 Nov 28;23(23) doi: 10.3390/ijms232314896. PMID: 36499221 Free PMC Article

Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

Do C, Vasquez PC, Soleimani M
Am J Kidney Dis 2022 Oct;80(4):536-551. Epub 2022 May 5 doi: 10.1053/j.ajkd.2021.12.016. PMID: 35525634 Free PMC Article

Factor XI Deficiency.

Lewandowska MD, Connors JM
Hematol Oncol Clin North Am 2021 Dec;35(6):1157-1169. Epub 2021 Sep 15 doi: 10.1016/j.hoc.2021.07.012. PMID: 34535287

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

Disseminated intravascular coagulation.

Gando S, Levi M, Toh CH
Nat Rev Dis Primers 2016 Jun 2;2:16037. doi: 10.1038/nrdp.2016.37. PMID: 27250996

See all (564)

Therapy

Calcium Release Deficiency Syndrome: A New Inherited Arrhythmia Syndrome.

Kallas D, Roberts JD, Sanatani S, Roston TM
Card Electrophysiol Clin 2023 Sep;15(3):319-329. Epub 2023 Jun 20 doi: 10.1016/j.ccep.2023.05.003. PMID: 37558302

Factor XI inhibitors: cardiovascular perspectives.

De Caterina R, Prisco D, Eikelboom JW
Eur Heart J 2023 Jan 21;44(4):280-292. doi: 10.1093/eurheartj/ehac464. PMID: 36263776

Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

Do C, Vasquez PC, Soleimani M
Am J Kidney Dis 2022 Oct;80(4):536-551. Epub 2022 May 5 doi: 10.1053/j.ajkd.2021.12.016. PMID: 35525634 Free 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

Disseminated intravascular coagulation.

Gando S, Levi M, Toh CH
Nat Rev Dis Primers 2016 Jun 2;2:16037. doi: 10.1038/nrdp.2016.37. PMID: 27250996

See all (573)

Prognosis

Acquired bleeding disorders.

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

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2021 Feb;27 Suppl 3:5-13. Epub 2020 Jun 1 doi: 10.1111/hae.14033. PMID: 32476241

Acquired von Willebrand Syndrome.

Mital A
Adv Clin Exp Med 2016 Nov-Dec;25(6):1337-1344. doi: 10.17219/acem/64942. PMID: 28028990

Disseminated intravascular coagulation.

Gando S, Levi M, Toh CH
Nat Rev Dis Primers 2016 Jun 2;2:16037. doi: 10.1038/nrdp.2016.37. PMID: 27250996

Surgical hemostasis.

Owen CA Jr, Bowie EJ
J Neurosurg 1979 Aug;51(2):137-42. doi: 10.3171/jns.1979.51.2.0137. PMID: 376788

See all (247)

Clinical prediction guides

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.

Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group, Mace E, Milner JD, Ombrello MJ
J Allergy Clin Immunol 2024 Jan;153(1):230-242. Epub 2023 Sep 26 doi: 10.1016/j.jaci.2023.08.036. PMID: 37769878 Free PMC Article

Prevention and Treatment of Glucocorticoid-Induced Osteoporosis in Adults: Consensus Recommendations From the Belgian Bone Club.

Acquired bleeding disorders.

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

Acquired bleeding disorders.

Tiede A, Zieger B, Lisman T
Haemophilia 2021 Feb;27 Suppl 3:5-13. Epub 2020 Jun 1 doi: 10.1111/hae.14033. PMID: 32476241

Disseminated intravascular coagulation.

Gando S, Levi M, Toh CH
Nat Rev Dis Primers 2016 Jun 2;2:16037. doi: 10.1038/nrdp.2016.37. PMID: 27250996

See all (357)

Recent systematic reviews

Association between irritable bowel syndrome and micronutrients: A systematic review.

Bek S, Teo YN, Tan XH, Fan KHR, Siah KTH
J Gastroenterol Hepatol 2022 Aug;37(8):1485-1497. Epub 2022 May 28 doi: 10.1111/jgh.15891. PMID: 35581170

Are serum vitamin D, calcium and phosphorous associated with restless leg syndrome? A systematic review and meta-analysis.

Mansourian M, Rafie N, Khorvash F, Hadi A, Arab A
Sleep Med 2020 Nov;75:326-334. Epub 2020 Aug 27 doi: 10.1016/j.sleep.2020.08.022. PMID: 32950014

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492 Free PMC Article

The role of vitamin D and calcium in type 2 diabetes. A systematic review and meta-analysis.

Pittas AG, Lau J, Hu FB, Dawson-Hughes B
J Clin Endocrinol Metab 2007 Jun;92(6):2017-29. Epub 2007 Mar 27 doi: 10.1210/jc.2007-0298. PMID: 17389701 Free PMC Article

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D
Kidney Blood Press Res 2002;25(6):354-62. doi: 10.1159/000068695. PMID: 12590198

See all (9)

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Coagulation factor deficiency syndrome

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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