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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
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Factor XII deficiency (46981006); Hageman factor deficiency (46981006); Factor XII deficiency disease (46981006)
 
Gene (location): F12 (5q35.3)
OMIM®: 234000
HPO: HP:0004841
Orphanet: ORPHA330

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

Factor XII deficiency disease
MedGen UID:
8772
Concept ID:
C0015526
Disease or Syndrome
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.
Prolonged whole-blood clotting time
MedGen UID:
488780
Concept ID:
C0151563
Finding
An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor XII deficiency disease
Follow this link to review classifications for Factor XII deficiency disease in Orphanet.

Conditions with this feature

Factor XII deficiency disease
MedGen UID:
8772
Concept ID:
C0015526
Disease or Syndrome
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.
Noonan syndrome 1
MedGen UID:
22527
Concept ID:
C0041409
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Carbohydrate-deficient glycoprotein syndrome type II
MedGen UID:
87610
Concept ID:
C0349654
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II Multiple forms of CDG type II have been identified; see CDG2B (606056) through CDG2Q (617395).

Recent clinical studies

Etiology

Ozgu-Erdinc AS, Togrul C, Aktulay A, Buyukkagnici U, Yapar Eyi EG, Erkaya S
J Pregnancy 2014;2014:459192. Epub 2014 Nov 12 doi: 10.1155/2014/459192. PMID: 25436153Free PMC Article
Dendrinos S, Deliveliotou A, Anastasiou A, Creatsas GK
J Reprod Med 2014 Jan-Feb;59(1-2):56-62. PMID: 24597288
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
Pauer HU, Burfeind P, Köstering H, Emons G, Hinney B
Fertil Steril 2003 Sep;80(3):590-4. PMID: 12969703

Diagnosis

Ozgu-Erdinc AS, Togrul C, Aktulay A, Buyukkagnici U, Yapar Eyi EG, Erkaya S
J Pregnancy 2014;2014:459192. Epub 2014 Nov 12 doi: 10.1155/2014/459192. PMID: 25436153Free PMC Article
Borrego-Sanz L, Santos-Bueso E, Sáenz-Francés F, Martínez-de-la-Casa JM, García-Feijoo J, Gegúndez-Fernández JA, García-Sánchez J
Arch Soc Esp Oftalmol 2014 Aug;89(8):329-31. Epub 2013 Aug 7 doi: 10.1016/j.oftal.2013.06.006. PMID: 24269423
Kanjanapongkul S
J Med Assoc Thai 2011 Aug;94 Suppl 3:S231-2. PMID: 22043782
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. PMID: 19326165
Lessiani G, Falco A, Nicolucci E, Rolandi G, Davì G
J Thromb Thrombolysis 2009 Apr;27(3):348-51. Epub 2008 Apr 6 doi: 10.1007/s11239-008-0222-1. PMID: 18392695

Therapy

Nickel KF, Long AT, Fuchs TA, Butler LM, Renné T
Arterioscler Thromb Vasc Biol 2017 Jan;37(1):13-20. Epub 2016 Nov 10 doi: 10.1161/ATVBAHA.116.308595. PMID: 27834692
Hopp S, Albert-Weissenberger C, Mencl S, Bieber M, Schuhmann MK, Stetter C, Nieswandt B, Schmidt PM, Monoranu CM, Alafuzoff I, Marklund N, Nolte MW, Sirén AL, Kleinschnitz C
Ann Neurol 2016 Jun;79(6):970-82. Epub 2016 Apr 28 doi: 10.1002/ana.24655. PMID: 27043916Free PMC Article
Uppal V, Rosin M
J Extra Corpor Technol 2014 Sep;46(3):254-7. PMID: 26357792Free PMC Article
Cronbaugh RD, Fuller LA, Miller SD, Richenbacher WE
J Extra Corpor Technol 2014 Sep;46(3):251-3. PMID: 26357791Free PMC Article
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

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. PMID: 18021303
Hlibczuk V
J Emerg Med 2007 May;32(4):365-9. Epub 2007 Apr 16 doi: 10.1016/j.jemermed.2006.08.017. PMID: 17499688
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

Clinical prediction guides

Jin P, Jiang W, Yan H, Liu L, Gu S, Wang X, Shen L, Mo X
Front Biosci (Landmark Ed) 2016 Jan 1;21:419-29. PMID: 26709783
Ozgu-Erdinc AS, Togrul C, Aktulay A, Buyukkagnici U, Yapar Eyi EG, Erkaya S
J Pregnancy 2014;2014:459192. Epub 2014 Nov 12 doi: 10.1155/2014/459192. PMID: 25436153Free PMC Article
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. 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. PMID: 19958838
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

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. PMID: 24125136
Müller F, Gailani D, Renné T
Curr Opin Hematol 2011 Sep;18(5):349-55. doi: 10.1097/MOH.0b013e3283497e61. PMID: 21730835Free PMC Article
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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