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Reduced factor XIII activity

MedGen UID:
506216
Concept ID:
CN007351
Finding
 
HPO: HP:0008357

Definition

Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. [from HPO]

Term Hierarchy

Conditions with this feature

Noonan syndrome 1
MedGen UID:
22527
Concept ID:
C0041409
Disease or Syndrome
Noonan syndrome (NS) is characterized by 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, characteristic facies, 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 third of affected individuals have mild intellectual disability.
Factor xiii, b subunit, deficiency of
MedGen UID:
442490
Concept ID:
C2750481
Disease or Syndrome
Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.
Factor xiii, a subunit, deficiency of
MedGen UID:
442497
Concept ID:
C2750514
Disease or Syndrome
Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Recent clinical studies

Etiology

Mokuda S, Murata Y, Sawada N, Matoba K, Yamada A, Onishi M, Okuda Y, Jouyama K, Sugiyama E, Takasugi K
PLoS One 2013;8(8):e69944. Epub 2013 Aug 1 doi: 10.1371/journal.pone.0069944. PMID: 23936360Free PMC Article
Larsen CC, Sørensen B, Nielsen JD, Astrup J
Thromb Res 2012 May;129(5):e229-32. Epub 2012 Mar 3 doi: 10.1016/j.thromres.2012.01.016. [Epub ahead of print] PMID: 22386137
Stadnicki A
Curr Vasc Pharmacol 2012 Sep;10(5):659-69. PMID: 22272910
Tacke F, Fiedler K, von Depka M, Luedde T, Hecker H, Manns MP, Ganser A, Trautwein C
Liver Int 2006 Mar;26(2):173-81. doi: 10.1111/j.1478-3231.2005.01205.x. PMID: 16448455
Pohlmann-Eden B, Peters CN, Wennberg R, Dempfle CE
Acta Neurol Scand 2003 Aug;108(2):142-5. PMID: 12859294

Diagnosis

Janning M, Holstein K, Spath B, Schnabel C, Bannas P, Bokemeyer C, Langer F
Hamostaseologie 2013;33 Suppl 1:S50-4. PMID: 24169946
Matayoshi T, Omi T, Sakai N, Kawana S
J Nippon Med Sch 2013;80(4):268-78. PMID: 23995569
Ichinose A, Souri M
Int J Hematol 2012 Jan;95(1):47-50. Epub 2011 Dec 29 doi: 10.1007/s12185-011-0992-7. [Epub ahead of print] PMID: 22205503
Jámbor C, Reul V, Schnider TW, Degiacomi P, Metzner H, Korte WC
Anesth Analg 2009 Oct;109(4):1023-8. doi: 10.1213/ANE.0b013e3181b5a263. PMID: 19762725
Tacke F, Fiedler K, von Depka M, Luedde T, Hecker H, Manns MP, Ganser A, Trautwein C
Liver Int 2006 Mar;26(2):173-81. doi: 10.1111/j.1478-3231.2005.01205.x. PMID: 16448455

Therapy

Matayoshi T, Omi T, Sakai N, Kawana S
J Nippon Med Sch 2013;80(4):268-78. PMID: 23995569
Mokuda S, Murata Y, Sawada N, Matoba K, Yamada A, Onishi M, Okuda Y, Jouyama K, Sugiyama E, Takasugi K
PLoS One 2013;8(8):e69944. Epub 2013 Aug 1 doi: 10.1371/journal.pone.0069944. PMID: 23936360Free PMC Article
Larsen CC, Sørensen B, Nielsen JD, Astrup J
Thromb Res 2012 May;129(5):e229-32. Epub 2012 Mar 3 doi: 10.1016/j.thromres.2012.01.016. [Epub ahead of print] PMID: 22386137
Vrettou CS, Stavrinou LC, Halikias S, Kyriakopoulou M, Kollias S, Stranjalis G, Koutsoukou A
Acta Neurochir (Wien) 2010 Mar;152(3):529-32. Epub 2009 Jun 26 doi: 10.1007/s00701-009-0432-0. [Epub ahead of print] PMID: 19557304
Seishima M, Shibuya Y, Kato G, Aoki T
Ther Apher Dial 2009 Jun;13(3):229-31. doi: 10.1111/j.1744-9987.2009.00688.x. PMID: 19527471

Prognosis

Souri M, Yee VC, Fujii N, Ichinose A
Thromb Res 2012 Sep;130(3):506-10. Epub 2012 May 25 doi: 10.1016/j.thromres.2012.05.003. [Epub ahead of print] PMID: 22633530
Stadnicki A
Curr Vasc Pharmacol 2012 Sep;10(5):659-69. PMID: 22272910
Jámbor C, Reul V, Schnider TW, Degiacomi P, Metzner H, Korte WC
Anesth Analg 2009 Oct;109(4):1023-8. doi: 10.1213/ANE.0b013e3181b5a263. PMID: 19762725
Tacke F, Fiedler K, von Depka M, Luedde T, Hecker H, Manns MP, Ganser A, Trautwein C
Liver Int 2006 Mar;26(2):173-81. doi: 10.1111/j.1478-3231.2005.01205.x. PMID: 16448455
Mikkola H, Muszbek L, Haramura G, Hämäläinen E, Jalanko A, Palotie A
Thromb Haemost 1997 Jun;77(6):1068-72. PMID: 9241733

Clinical prediction guides

Matayoshi T, Omi T, Sakai N, Kawana S
J Nippon Med Sch 2013;80(4):268-78. PMID: 23995569
Mokuda S, Murata Y, Sawada N, Matoba K, Yamada A, Onishi M, Okuda Y, Jouyama K, Sugiyama E, Takasugi K
PLoS One 2013;8(8):e69944. Epub 2013 Aug 1 doi: 10.1371/journal.pone.0069944. PMID: 23936360Free PMC Article
Souri M, Yee VC, Fujii N, Ichinose A
Thromb Res 2012 Sep;130(3):506-10. Epub 2012 May 25 doi: 10.1016/j.thromres.2012.05.003. [Epub ahead of print] PMID: 22633530
Ichinose A
Semin Thromb Hemost 2011 Jun;37(4):382-8. Epub 2011 Jul 30 doi: 10.1055/s-0031-1276587. PMID: 21805444
Jámbor C, Reul V, Schnider TW, Degiacomi P, Metzner H, Korte WC
Anesth Analg 2009 Oct;109(4):1023-8. doi: 10.1213/ANE.0b013e3181b5a263. PMID: 19762725

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