Hereditary combined deficiency of the vitamin K-dependent clotting factors

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Napolitano, Mariasanta ^a   Mariani, Guglielmo ^a   Lapecorella, Mario ^a  

^a UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

4 CARBOXYGLUTAMIC ACID; ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 6; BLOOD CLOTTING FACTOR 9; FARNOQUINONE; FATTY ACID BINDING PROTEIN; GLUTAMIC ACID; PROTEIN S; VITAMIN K GROUP; GLUTAMYL CARBOXYLASE; LIGASE; PLASMA PROTEIN; PLASMA PROTEIN Z; PROTEIN C; RECOMBINANT PROTEIN;

BRAIN HEMORRHAGE; CELIAC DISEASE; CHROMOSOME ABERRATION; EXON; GENE MUTATION; GENOTYPE; HEMOPHILIA; HEMOPHILIA B; HUMAN; LIVER CIRRHOSIS; LIVER DYSFUNCTION; PARTIAL THROMBOPLASTIN TIME; PROGNOSIS; PROTEIN FUNCTION; PROTHROMBIN TIME; QUALITY OF LIFE; REVIEW; SCREENING; SKELETON MALFORMATION; VITAMIN K DEFICIENCY; BLOOD CLOTTING DISORDER; GENETICS; METABOLISM; NEWBORN; PATHOPHYSIOLOGY;

BLOOD COAGULATION DISORDERS, INHERITED; BLOOD COAGULATION FACTORS; BLOOD PROTEINS; CARBON-CARBON LIGASES; HUMANS; INFANT, NEWBORN; PROTEIN C; PROTEIN S; RECOMBINANT PROTEINS; VITAMIN K; VITAMIN K DEFICIENCY;

EID: 77954474728     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-21     Document Type: Review

References (49)

1. Familial multiple coagulation factor deficiencies. I. Review of the literature: differentiation of single hereditary disorders associated with multiple factor deficiencies from coincidental concurrence of single factor deficiency states. GA Soff J Levin, Semin Thromb Hemost 1981 7 112 148 10.1055/s-2007-1005073 6794149
2. Familial multiple coagulation factor deficiencies. II. Combined factor VIII, IX, and XI deficiency and combined factor IX and XI deficiency: two previously uncharacterized familial multiple factor deficiency syndromes. GA Soff J Levin WR Bell, Semin Thromb Hemost 1981 7 149 169 10.1055/s-2007-1005074 6794150
3. Familial multiple coagulation factor deficiencies-chance associations and distinct clinical disorders. PJ Robson AD Mumford, Haemophilia 2009 15 11 19 10.1111/j.1365-2516.2008.01897.x 19149846
4. Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. BAM Soute MMW Ulrich ADJ Watson JE Maddison RHM Ebberink C Vermeer, Thromb Haemost 1992 68 521 525 1455398
5. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase- complex. J Oldenburg B von Brederlow A Fregin S Rost W Wolz W Eberl S Eber E Lenz R Schwaab HH Brackmann W Effenberger U Harbrecht LJ Schurgers C Vermeer CR Muller, Thromb Haemost 2000 84 937 941 11154138
6. Congenital combined deficiency of coagulation factors II VII, IX, and X. Report of a case. CW McMillan HR Roberts, N Engl J Med 1966 274 1313 1315 5936414
7. Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities. A Boneh J Bar-Ziv, Am J Med Genet 1996 65 241 243 10.1002/(SICI)1096-8628(19961028)65:3<241::AID-AJMG133.0.CO;2-O 9240751
8. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. B Brenner S Tavori A Zivelin CB Keller JW Suttie I Tatarsky U Seligsohn, Br J Haematol 1990 75 537 542 10.1111/j.1365-2141.1990.tb07795.x 2145029
9. Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. GH Goldsmith Jr RE Pence OD Ratnoff DJ Adelsteinn B Furie, J Clin Invest 1982 69 1253 1260 10.1172/JCI110564 7085873
10. Congenital combined deficiencies of all vitamin K-dependent coagulation factors. M Mousallem HM Spronk R Sacy N Hakime BA Soute, Thromb Haemost 2001 86 1334 1336 11816728
11. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. RM Pauli JB Lian DF Mosher JW Suttie, Am J Hum Genet 1987 41 566 583 3499071
12. A new case of combined deficiency of vitamin K-dependent coagulation factors. C Pechlaner W Vogel R Erhart E Pümpel F Kunz, Thromb Haemost 1992 68 617 1455409
13. Four factor deficiency. A Thomas D Stirling, Blood Coagul Fibrinol 2003 14 Suppl 1 55 57 10.1097/00001721-200306001-00013 (Pubitemid 36951885)
14. Congenital deficiency of vitamin K-dependent coagulation factors and protein C. V Vicente R Maia I Alberca GP Tamagnini BA Lopez, Thromb Haemost 1984 51 343 346 6548583
15. Combined deficiency of coagulation factors II, VII, IX, and X a case of probable congenital origin. H Ekelund L Lindeberg L Wranne, Pediatric Haematol Oncol 1986 3 187 193 10.3109/08880018609031217
16. Congenital vitamin K-dependent coagulation factor deficiency: a case report. J Bhattacharyya P Dutta P Mishra A Dixit U Srinivas M Kannan R Kumar VP Choudhry R Saxena, Blood Coagul Fibrinolysis 2005 16 525 527 10.1097/01.mbc.0000183634.68071.3b 16175013
17. Effective hemostasis during minor surgery in a case of hereditary combined deficiency of vitamin K-dependent clotting factors. M Lapecorella M Napolitano F Bernardi M Pinotti P Sbrighi G Marchetti A Canella P Caruso A Orecchioni G Mariani, Clin Appl Thromb Hemost 2010 16 221 223 10.1177/1076029608330473 19144654
18. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. OM Vanakker l Martin D Gheduzzi BP Leroy BL Loeys VI Guerci D Matthys SF Terry PJ Coucke I Pasquali-Ronchetti A De Paepe, J Invest Dermatol 2007 127 581 587 10.1038/sj.jid.5700610 17110937
19. Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency. D Darghouth KW Hallgren RL Shtofman A Mrad Y Gharbi A Maherzi R Kastally S LeRicousse KL Berkner JP Rosa, Blood 2006 108 1925 1931 10.1182/blood-2005-12-010660 16720838
20. Molecular basis of vitamin K-dependent gamma-carboxylation. B Furie BC Furie, Blood 1990 75 1753 1762 2184900
21. The vitamin K-dependent carboxylase. SR Presnell DW Stafford, Thromb Haemost 2002 87 937 946 12083499
22. Identification of amino-acids in the gamma-carboxylation recognition site on the propeptide of prothrombin. P Huber T Schmitz J Griffin M Jacobs C Walsh B Furie BC Furie, J Biol Chem 1990 265 12467 12473 2373701
23. Identification and purification to near homogeneity of the vitamin K-dependent carboxylase. SM Wu DP Morris DW Stafford, Proc Natl Acad Sci USA 1991 88 2236 2240 10.1073/pnas.88.6.2236 2006163
24. Cloning and expression of cDNA for human gamma-glutamyl carboxylase. SM Wu WF Cheung D Frazier DW Stafford, Science 1991 254 1634 1636 10.1126/science.1749935 1749935
25. Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. S Rost A Fregin D Koch M Compes CR Müller J Oldenburg, Br J Haematol 2004 126 546 549 10.1111/j.1365-2141.2004.05071.x 15287948
26. Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. S Rost C Geisen A Fregin E Seifried CR Müller J Oldenburg, Blood Coagul Fibrinolysis 2006 17 503 507 10.1097/01.mbc.0000240927.88177.d1 16905958
27. Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD). R Titapiwatanakun V Rodriguez S Middha BA Dukek RK Pruthi, Pediatr Blood Cancer 2009 53 92 95 10.1002/pbc.22011 19340858
28. Biochemical basis of hereditary resistance to warfarin in rat. A Zimmermann JT Matschiner, Biochem Pharmacol 1974 23 1033 1040 10.1016/0006-2952(74)90002-1 4824903
29. Identification of the gene for vitamin K epoxide reducatse. T Li CY Chang DY Jin PJ Lin A Khvorova DW Stafford, Nature 2004 427 541 544 10.1038/nature02254 14765195
30. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. A Fregin S Rost W Wolz A Krebsova CR Muller J Oldenburg, Blood 2002 100 3229 3232 10.1182/blood-2002-03-0698 12384421
31. Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency. G Marchetti P Caruso B Lunghi M Pinotti M Lapecorella M Napolitano A Canella G Mariani F Bernardi, J Thromb Haemost 2008 6 797 803 10.1111/j.1538-7836.2008.02934.x 18315553
32. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. S Rost A Fregin V Ivaskevicius E Conzelmann K Hörtnagel HJ Pelz K Lappegard E Seifried I Scharrer EG Tuddenham CR Müller TM Strom J Oldenburg, Nature 2004 427 537 541 10.1038/nature02214 14765194
33. Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone. PV Hauschka JB Lian DE Cole CM Gundberg, Physiol Rev 1989 69 990 1047 2664828
34. The anticoagulation factor protein S and its relative, Gas6, are ligands for the Tyro3/Axl family of receptor tyrosine kinases. TN Stitt G Conn M Gore C Lai J Bruno C Radzeijewski K Mattsson J Fisher DR Gies PF Jones P Masiakowski TE Ryan NJ Tobkes DH Chen PS Di Stefano GL Long C Basilico MP Goldfarb G Lemke DJ Glass GD Yancopoulos, Cell 1995 80 661 670 10.1016/0092-8674(95)90520-0 7867073
35. Regulation of microglial phagocytosis and inflammatory gene expression by Gas6 acting on the Axl/Mer family of tyrosine kinases. C Grommes CY Lee BL Wilkinson Q Jiang JL Koenigsknecht-Talboo B Varnum GE Landreth, J Neuroimmune Pharmacol 2008 3 130 140 10.1007/s11481-007-9090-2 18247125
36. Characterization of calcium-binding sites in the kidney stone inhibitor glycoprotein nephrocalcin with vanadyl ions: electron paramagnetic resonance and electron nuclear double resonance spectroscopy. D Mustafi Y Nakagawa, Proc Natal Acad Sci USA 1994 91 11323 11327 10.1073/pnas.91.24.11323 (Pubitemid 24356336)
37. Identification of two novel transemembrane gamma-carboxyglutamic acid proteins expressed broadly in fetal and adult tissues. JD Kulman JE Harris L Xie EW Davie, Proc Natal Acad Sci USA 2001 98 1370 1375 10.1073/pnas.98.4.1370 (Pubitemid 32165505)
38. Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X. CA Johnson KS Chung KM McGrath PE Bean HR Roberts, Br J Haematol 1980 44 461 469 10.1111/j.1365-2141.1980.tb05916.x 7378310
39. Serum and tissue PIVKA-II expression reflect the biological malignant potential of small hepatocellular carcinoma. M Tamano H Sugaya M Oguma M Iijima M Yoneda T Murohisa K Kojima T Kuniyoshi Y Majima T Hashimoto A Terano, Hepatol Res 2002 22 261 269 10.1016/S1386-6346(01)00150-4 11929711
40. Des-gamma-carboxy prothrombin is a potential autologous growth factor for hepatocellular carcinoma. M Suzuki H Shiraha T Fujikawa N Takaoka N Ueda Y Nakanishi K Koike A Takaki Y Shiratori, J Biol Chem 2005 280 6409 6415 10.1074/jbc.M406714200 15582995
41. Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase. SM Wu DW Stafford LD Frazier YY Fu KA High K Chu B Sanchez-Vega J Solera, Blood 1997 89 4058 4062 9166845
42. Familial deficiency of vitamin K-dependent clotting factors. BW Weston PE Monahan, Haemophilia 2008 14 1209 1213 19141161
43. NAD(P)H dehydrogenase and its role in the vitamin K (2-methyl-3-phytyl-1, 4-naphthaquinone)-dependent carboxylation reaction. R Wallin O Gebhardt H Prydz, Biochem J 1978 169 95 101 629756
44. Vitamin K-dependent carboxylation. Evidence that at least two microsomal dehydrogenases reduce vitamin K1 to support carboxylation. R Wallin S Hutson, J Biol Chem 1982 257 1583 1586 6799508
45. Guidelines on oral anticoagulation: third edition. TP Baglin PE Rose, Br J Haematol 1998 101 374 387 10.1046/j.1365-2141.1998.00715.x 9609538
46. Role of prothrombin complex concentrates in reversing warfarin anticoagulation: a review of the literature. CA Leissinger PM Blatt WK Hoors B Ewenstein, Am J Hematol 2008 83 137 143 10.1002/ajh.21046 17729241
47. Efficacy and safety of a prothrombin complex concentrate (Octaplex) for rapid reversal of oral anticoagulation. A Lubetsky R Hoffman R Zimlichman A Eldor J Zvi V Kostenko B Brenner, Thromb Res 2004 113 371 378 10.1016/j.thromres.2004.04.004 15226091
48. Warfarin reversal. JP Hanley, J Clin Pathol 2004 57 1132 1139 10.1136/jcp.2003.008904 15509671
49. Effect of low dose vitamin K2 (MK-4) supplementation on bio-indices in postmenopausal Japanese women. N Koitaya J Ezaki M Nishimuta J Yamauchi E Hashizume K Morishita M Miyachi S Sasaki Y Ishimi, J Nutr Sci Vitaminol (Tokyo) 2009 55 15 21 10.3177/jnsv.55.15 19352059