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Factor XII deficiency disease

MedGen UID:
8772
Concept ID:
C0015526
Disease or Syndrome
Synonyms: Coagulation factor 12 deficiency; F12 deficiency; Factor 12 deficiency; HAF deficiency; Hageman factor deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Factor XII deficiency (46981006); Hageman factor deficiency (46981006); Factor XII deficiency disease (46981006)
 
Gene: F12
Cytogenetic location: 5q35.3
OMIM: 234000

Definition

An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time. [from MeSH]

Clinical features

Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
An abnormal laboratory test result in which the partial thromboplastin time is found to be greater than the control value. As a possible indicator of coagulopathy, a prolonged partial thromboplastin time (PTT) may occur in a variety of diseases and disorders, both primary and related to treatment.
Reduced factor XII activity
MedGen UID:
505700
Concept ID:
CN004286
Finding
Decreased activity of `coagulation factor XII` (PR:000007296). Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.
Prolonged whole-blood clotting time
MedGen UID:
446672
Concept ID:
CN004908
Finding
An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFactor XII deficiency disease

Recent clinical studies

Etiology

Dendrinos S, Deliveliotou A, Anastasiou A, Creatsas GK
J Reprod Med 2014 Jan-Feb;59(1-2):56-62. PMID: 24597288
Matafonov A, Leung PY, Gailani AE, Grach SL, Puy C, Cheng Q, Sun MF, McCarty OJ, Tucker EI, Kataoka H, Renné T, Morrissey JH, Gruber A, Gailani D
Blood 2014 Mar 13;123(11):1739-46. Epub 2014 Jan 9 doi: 10.1182/blood-2013-04-499111. [Epub ahead of print] PMID: 24408325Free PMC Article
Pham M, Stoll G, Nieswandt B, Bendszus M, Kleinschnitz C
J Mol Med (Berl) 2012 Feb;90(2):119-26. Epub 2011 Sep 10 doi: 10.1007/s00109-011-0812-9. [Epub ahead of print] PMID: 21909687
Conaglen PJ, Akowuah E, Theodore S, Atkinson V
Ann Thorac Surg 2010 Feb;89(2):625-6. doi: 10.1016/j.athoracsur.2009.07.042. PMID: 20103363
Sternic N, Pavlovic A, Miljic P, Bajcetic M, Lackovic M, Lackovic V
Neurol India 2009 Sep-Oct;57(5):657-9. doi: 10.4103/0028-3886.57806. PMID: 19934572

Diagnosis

Rygał P, Kuc A
Anaesthesiol Intensive Ther 2012 Oct-Dec;44(4):217-20. PMID: 23348490
Kanjanapongkul S
J Med Assoc Thai 2011 Aug;94 Suppl 3:S231-2. PMID: 22043782
Matsuki E, Miyakawa Y, Okamoto S
Blood Coagul Fibrinolysis 2011 Apr;22(3):227-30. doi: 10.1097/MBC.0b013e328343f928. PMID: 21297451
Matsukuma E, Gotoh Y, Kuroyanagi Y, Yamada T, Iwasa M, Yamakawa S, Nagai T, Takagi N, Mae H, Iijima K, Bresin E
Clin Exp Nephrol 2011 Apr;15(2):269-74. Epub 2011 Jan 27 doi: 10.1007/s10157-010-0375-z. [Epub ahead of print] PMID: 21271273
Kasapoglu Gunal E, Kamali S, Akdogan MF, Cimen AO, Ocal L, Agan M, Gul A, Inanc M, Konice M, Aral O
Clin Rheumatol 2009 Jun;28(6):733-6. Epub 2009 Mar 27 doi: 10.1007/s10067-009-1127-x. [Epub ahead of print] PMID: 19326165

Therapy

van Montfoort ML, Meijers JC
Thromb Haemost 2013 Aug;110(2):223-32. Epub 2013 Jun 6 doi: 10.1160/TH12-11-0803. [Epub ahead of print] PMID: 23739841
Müller F, Gailani D, Renné T
Curr Opin Hematol 2011 Sep;18(5):349-55. doi: 10.1097/MOH.0b013e3283497e61. PMID: 21730835
Conaglen PJ, Akowuah E, Theodore S, Atkinson V
Ann Thorac Surg 2010 Feb;89(2):625-6. doi: 10.1016/j.athoracsur.2009.07.042. PMID: 20103363
Miller GJ, Martin JC, Mitropoulos KA, Esnouf MP, Cooper JA, Morrissey JH, Howarth DJ, Tuddenham EG
Blood 1996 May 15;87(10):4187-96. PMID: 8639777
Kelsey PR, Bottomley J, Grotte GJ, Maciver JE
Clin Lab Haematol 1985;7(4):379-81. PMID: 3879475

Prognosis

Rygał P, Kuc A
Anaesthesiol Intensive Ther 2012 Oct-Dec;44(4):217-20. PMID: 23348490
Bach J, Endler G, Winkelmann BR, Boehm BO, Maerz W, Mannhalter C, Hellstern P
J Thromb Haemost 2008 Feb;6(2):291-6. Epub 2007 Nov 15 doi: 10.1111/j.1538-7836.2007.02839.x. [Epub ahead of print] PMID: 18021303
Endler G, Marsik C, Jilma B, Schickbauer T, Quehenberger P, Mannhalter C
J Thromb Haemost 2007 Jun;5(6):1143-8. doi: 10.1111/j.1538-7836.2007.02530.x. PMID: 17388965
Zeitler P, Meissner N, Kreth HW
Acta Paediatr 1999 Nov;88(11):1233-7. PMID: 10591425
Zeerleder S, Schloesser M, Redondo M, Wuillemin WA, Engel W, Furlan M, Lämmle B
Thromb Haemost 1999 Oct;82(4):1240-6. PMID: 10544906

Clinical prediction guides

Bhattacharjee G, Revenko AS, Crosby JR, May C, Gao D, Zhao C, Monia BP, MacLeod AR
Nucleic Acid Ther 2013 Jun;23(3):175-87. Epub 2013 Apr 12 doi: 10.1089/nat.2013.0417. [Epub ahead of print] PMID: 23582057
Suzuki K, Murai K, Suwabe A, Ishida Y
Thromb Res 2010 May;125(5):438-43. Epub 2009 Dec 22 doi: 10.1016/j.thromres.2009.12.004. [Epub ahead of print] PMID: 20022356
Pham M, Kleinschnitz C, Helluy X, Bartsch AJ, Austinat M, Behr VC, Renné T, Nieswandt B, Stoll G, Bendszus M
Neuroimage 2010 Feb 15;49(4):2907-14. Epub 2009 Dec 1 doi: 10.1016/j.neuroimage.2009.11.061. [Epub ahead of print] PMID: 19958838
Bork K, Wulff K, Hardt J, Witzke G, Staubach P
J Allergy Clin Immunol 2009 Jul;124(1):129-34. Epub 2009 May 27 doi: 10.1016/j.jaci.2009.03.038. [Epub ahead of print] PMID: 19477491
Miller GJ, Martin JC, Mitropoulos KA, Esnouf MP, Cooper JA, Morrissey JH, Howarth DJ, Tuddenham EG
Blood 1996 May 15;87(10):4187-96. PMID: 8639777

Recent systematic reviews

Banerji A
Ann Allergy Asthma Immunol 2013 Nov;111(5):329-36. Epub 2013 Sep 18 doi: 10.1016/j.anai.2013.08.019. [Epub ahead of print] PMID: 24125136
Müller F, Gailani D, Renné T
Curr Opin Hematol 2011 Sep;18(5):349-55. doi: 10.1097/MOH.0b013e3283497e61. PMID: 21730835
Kaplan AP, Joseph K
Ann Allergy Asthma Immunol 2010 Mar;104(3):193-204. doi: 10.1016/j.anai.2010.01.007. PMID: 20377108
Sotiriadis A, Makrigiannakis A, Stefos T, Paraskevaidis E, Kalantaridou SN
Obstet Gynecol 2007 May;109(5):1146-55. doi: 10.1097/01.AOG.0000260873.94196.d6. PMID: 17470597
Kitchens CS
Arch Pathol Lab Med 2002 Nov;126(11):1382-6. doi: 10.1043/0003-9985(2002)126<1382:TCS>2.0.CO;2. PMID: 12421145

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