An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor VIIa in the extrinsic pathway of blood coagulation. The activated form then catalyzes the activation of factor X to factor Xa.
Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Activated form of factor VII. Factor VIIa activates factor X in the extrinsic pathway of blood coagulation.
Constituent composed of protein and phospholipid that is widely distributed in many tissues. It serves as a cofactor with factor VIIa to activate factor X in the extrinsic pathway of blood coagulation.

Factor VII deficiency in a mixed breed dog. (1/64)

Abnormal bleeding following routine orchectomy of a 5-month-old mixed breed was determined to be due to factor VII deficiency. Although pedigree information was unavailable, failure to respond to vitamin K therapy and the absence of a plasma coagulation inhibitor suggested that the factor VII deficiency was likely inherited rather than acquired.  (+info)

Combined factor VII/protein C deficiency results in intrauterine coagulopathy in mice. (2/64)

To determine whether an additional loss of the coagulation factor VII (FVII) gene influenced the coagulopathy observed in protein C gene-deficient (PC(-/-)) embryos and neonates, we crossed mice doubly heterozygous for the factor VII (FVII(+/-)) and protein C (PC(+/-)) genes to produce offspring possessing the 9 predicted genotypic combinations. FVII(-/-)/PC(-/-) embryos, although present at their expected Mendelian frequency, displayed a phenotype that had not been observed in either the FVII or PC singly deficient embryos. At E12.5 days postcoitum (dpc), FVII(-/-)/PC(-/-) embryos demonstrated an intra- and extravascular coagulopathy that progressed with substantial concomitant hemorrhage and peripheral edema by E17.5dpc, resulting in mortality immediately after birth. FVII(+/-)/PC(-/-) embryos showed a less severe phenotype, suggesting a gene dosage effect. The lack of rescue of PC(-/-) embryos and neonates and augmented coagulopathy resulting from an additional heterozygous or homozygous FVII deficiency are probably due to increased factor Xa and thrombin generation, resulting from loss of FVIIa-dependent tissue factor pathway inhibitor function and the absence of control at the levels of factors Va and VIIIa. The presence of fibrin in embryos in the absence of fetal FVII suggests that significant clot-generating potential exists outside of the embryonic factor VII-dependent pathway.  (+info)

Modulation of factor VII levels by intron 7 polymorphisms: population and in vitro studies. (3/64)

Previous studies have established that factor VII gene (F7) polymorphisms (5'F7 and R353Q) contribute about one-third of factor VII (FVII) level variation in plasma. However, F7 genotyping in patients with cardiovascular disease has produced conflicting results. Population and expression studies were used to investigate the role of intron 7 (IVS7 ) polymorphisms, including repeat and sequence variations, in controlling activated FVII (FVIIa) and antigen (FVIIag) levels. Genotype-phenotype studies performed in 438 Italian subjects suggested a positive relation between the IVS7 repeat number and FVII levels. The lowest values were associated with the IVS7 + 7G allele. The screening of 52 patients with mild FVII deficiency showed an 8-fold increase in frequency (8%) of this allele, and among heterozygotes for identical mutations, lower FVII levels were observed in the IVS7 + 7G carriers. This frequent genetic component participates in the phenotypic heterogeneity of FVII deficiency. The evaluation of the individual contribution of polymorphisms was assisted by the expression of each IVS7 variant, as a minigene, in eukaryotic cells. The novel quantitative analysis revealed that higher numbers of repeats were associated with higher mRNA expression levels and that the IVS7 + 7G allele, previously defined as a functionally silent polymorphism, was responsible for the lowest relative mRNA expression. Taken together, these findings indicate that the IVS7 polymorphisms contribute to the plasmatic variance of FVII levels via differential efficiency of mRNA splicing. These studies provide further elements to understand the control of FVII levels, which could be of importance to ensure the hemostatic balance under pathologic conditions.  (+info)

A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. (4/64)

Investigation of the molecular basis of a severe factor VII (fVII) deficiency revealed compound heterozygosity in the fVII gene. On the paternal allele the patient had 3 structural gene abnormalities frequently associated with fVII deficiency. A new mutation, a C to T transition at position -55 relative to the translational start site, was found on the maternal allele. The study demonstrates that this mutation partially impeded binding of the transcriptional activator, hepatic nuclear factor 4, to the fVII promoter while greatly reducing reporter gene expression in hepatic cells. (Blood. 2000;96:4370-4372)  (+info)

Abnormal secretion and function of recombinant human factor VII as the result of modification to a calcium binding site caused by a 15-base pair insertion in the F7 gene. (5/64)

A case of a novel mutation in the F7 gene that results in factor VII coagulant activity (VII:c) of less than 1% and VII antigen (VII:Ag) levels of 10% is presented. DNA analysis revealed a homozygous 15-base pair (bp) in-frame insertion-type mutation at nucleotide 10554. This insertion consisted of a duplication of residues leucine (L)213 to aspartic acid (D)217 (leucine, serine, glutamic acid, histidine, and aspartic acid), probably arising by slipped mispairing between 2 copies of a direct repeat (GCGAGCACGAC) separated by 4 bp. Molecular graphic analyses showed that the insertion is located at the surface of the catalytic domain in an exposed loop stabilized by extensive salt-bridge and hydrogen bond formation at which the calcium binding site is located. The mutation probably interferes with protein folding during VII biosynthesis and/or diminishes functional activity through the loss of calcium binding. In vitro expression studies demonstrated that the levels of VII:Ag in lysates of cells transfected with wild type VII (VIIWT) were equivalent to those with mutant type VII (VIIMT), but the level of secreted VIIMT was 5% to 10% that of VIIWT. Pulse chase studies demonstrated that VIIMT did not accumulate intracellularly, and studies with inhibitors of protein degradation showed that recombinant VIIMT was partially degraded in the pre-Golgi compartment. Accordingly, only small amounts of VIIMT with undetectable procoagulant activity were secreted into conditioned media. These results demonstrate that a combination of secretion and functional defects is the mechanism whereby this insertion causes VII deficiency.  (+info)

Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. (6/64)

Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screened for mutations the FVII gene of 37 unrelated patients with a FVII coagulant activity less than 5% of normal pooled plasmas. The nine exons with boundaries and the 5' flanking region of the FVII gene were explored using a combination of denaturing gradient gel electrophoresis and direct DNA sequencing. This strategy allowed us to characterise 68 out of the 74 predicted FVII mutated alleles. They corresponded to a large panel of 40 different mutations. Among these, 18 were not already reported. Genotypes of the severely affected patients comprised, on both alleles, deleterious mutations which appeared to be related to a total absence of activated FVII. We suggest that this absence of functional FVII can explain the severe clinical expression. Whether a small release of FVII is sufficient to initiate the coagulation cascade and to prevent the expression of a severe phenotype, requires further investigations.  (+info)

Pharmacokinetic evaluation of recombinant, activated factor VII in patients with inherited factor VII deficiency. (7/64)

BACKGROUND AND OBJECTIVES: Recombinant factor VIIa (rFVIIa) has been widely used in the treatment of bleedings occurring in hemophiliacs with inhibitors. Very few reports exist on the use of rFVIIa in patients with inherited FVII deficiency. Pharmacokinetic studies on rFVIIa have been performed exclusively in hemophiliacs, patients with cirrhosis or volunteers pretreated with acenocoumarol. The aim of this study was to evaluate the kinetics of rFVIIa in patients naturally deficient of FVII. DESIGN AND METHODS: A single dose kinetic study with rFVIIa was performed in 5 patients affected by severe congenital deficiency of factor VII in order to evaluate the true kinetic parameters of rFVIIa without the interference of FVII. Two dosages, 15 and 30 microg/kg, were used in a crossover schedule. FVII:C and FVIIa concentration/time curves were analyzed by a model-independent method. Antithrombin (AT), prothombin fragment 1+2 (F1+2) and tissue factor pathway inhibitor (TFPI) were assayed. RESULTS: No differences emerged between the dosages with respect to dose-independent parameters [total body clearance (CL), volume of distribution area (VdArea), mean residence time (MRT)]. No significant changes of AT, TFPI, and F1+2 were observed. Comparing the results with those of other studies performed in adult hemophiliacs, in patients affected by cirrhosis or in volunteers on oral anticoagulant therapy (OAT), CL and VdArea of rFVIIa were definitely higher and in vivo recovery was lower. INTERPRETATION AND CONCLUSIONS: These findings suggest that the kinetics of rFVIIa are not dose-dependent. In the absence of FVII, the changes of VdArea and CL may be in agreement with a mechanism of competition between FVII and rFVIIa for tissue factor binding.  (+info)

Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser). (8/64)

Two cross-reacting material-positive (CRM(+)) factor VII (FVII) mutations, associated with similar reductions in coagulant activity (2.5%) but with mild to asymptomatic (Gly331Ser, c184 [in chymotrypsin numbering]) or severe (Gly283Ser, c140) hemorrhagic phenotypes, were investigated. The affected glycines belong to structurally conserved regions in the c184 through c193 and c140s activation domain loops, respectively. The natural mutants 331Ser-FVII and 283Ser-FVII were expressed, and in addition 331Ala-FVII and 283Ala-FVII were expressed because 3 functional serine-proteases bear alanine at these positions. The 331Ser-FVII, present in several asymptomatic subjects, showed detectable factor Xa generation activity in patient plasma (0.7% +/- 0.2%) and in reconstituted system with the recombinant molecules (2.7% +/- 1.1%). The reduced activity of recombinant 283Ala-FVII (7.2% +/- 2.2%) indicates that the full function of FVII requires glycine at this position, and the undetectable activity of 283Ser-FVII suggests that the oxydrile group of Ser283 participates in causing severe CRM(+) deficiency. Furthermore, in a plasma system with limiting thromboplastin concentration, 283Ser-FVII inhibited wild-type FVIIa activity in a dose-dependent manner.  (+info)

Factor VII deficiency is a bleeding disorder that is caused by a deficiency or dysfunction of coagulation factor VII, which is a protein involved in the coagulation cascade and is necessary for the initiation of blood clotting. This condition can lead to prolonged bleeding after injury or surgery, easy bruising, and spontaneous bleeding. The severity of the disorder varies widely, depending on the level of factor VII activity. In severe cases, factor VII activity may be less than 1% of normal, leading to a high risk of bleeding. In milder cases, factor VII activity may be between 5-40% of normal, leading to a lower risk of bleeding. Treatment typically involves replacement therapy with fresh frozen plasma or recombinant factor VIIa to control bleeding episodes and prevent complications.

Factor VII, also known as proconvertin, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor VII is synthesized in the liver and is activated when it comes into contact with tissue factor, which is exposed when blood vessels are damaged. Activated Factor VII then activates Factor X, leading to the formation of thrombin and ultimately a fibrin clot.

Inherited deficiencies or dysfunctions of Factor VII can lead to an increased risk of bleeding, while elevated levels of Factor VII have been associated with an increased risk of thrombosis (blood clots).

Blood coagulation disorders, inherited, also known as coagulopathies, are genetic conditions that affect the body's ability to form blood clots in response to injury or damage to blood vessels. These disorders can lead to excessive bleeding or hemorrhage, and in some cases, abnormal clotting.

There are several types of inherited blood coagulation disorders, including:

1. Hemophilia A and B: These are X-linked recessive disorders that affect the production of factors VIII and IX, respectively, which are essential for normal blood clotting. People with hemophilia may experience prolonged bleeding after injury or surgery, and spontaneous bleeding into joints and muscles.
2. Von Willebrand disease: This is the most common inherited coagulation disorder, affecting both men and women. It results from a deficiency or abnormality of von Willebrand factor, a protein that helps platelets stick to damaged blood vessels and assists in the activation of factor VIII. People with von Willebrand disease may experience excessive bleeding after injury, surgery, or dental work.
3. Factor XI deficiency: This is an autosomal recessive disorder that affects the production of factor XI, a protein involved in the intrinsic pathway of blood coagulation. People with factor XI deficiency may have a mild to moderate bleeding tendency, particularly after surgery or trauma.
4. Rare coagulation factor deficiencies: There are several other rare inherited coagulation disorders that affect the production of other clotting factors, such as factors II, V, VII, X, and XIII. These conditions can lead to a range of bleeding symptoms, from mild to severe.

Inherited blood coagulation disorders are usually diagnosed through a combination of medical history, physical examination, and laboratory tests that measure the levels and function of clotting factors in the blood. Treatment may include replacement therapy with purified clotting factor concentrates, medications to control bleeding, and management of bleeding symptoms as they arise.

Factor VIIa is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor VIIa is the activated form of factor VII, which is normally activated by tissue factor (TF) when there is damage to the blood vessels. Together, TF and Factor VIIa convert Factor X to its active form, Factor Xa, which then converts prothrombin to thrombin, leading to the formation of a fibrin clot.

In summary, Factor VIIa is an important protein in the coagulation cascade that helps to initiate the formation of a blood clot in response to injury.

Thromboplastin is a substance that activates the coagulation cascade, leading to the formation of a clot (thrombus). It's primarily found in damaged or injured tissues and blood vessels, as well as in platelets (thrombocytes). There are two types of thromboplastin:

1. Extrinsic thromboplastin (also known as tissue factor): This is a transmembrane glycoprotein that is primarily found in subendothelial cells and released upon injury to the blood vessels. It initiates the extrinsic pathway of coagulation by binding to and activating Factor VII, ultimately leading to the formation of thrombin and fibrin clots.
2. Intrinsic thromboplastin (also known as plasma thromboplastin or factor III): This term is used less frequently and refers to a labile phospholipid component present in platelet membranes, which plays a role in the intrinsic pathway of coagulation.

In clinical settings, the term "thromboplastin" often refers to reagents used in laboratory tests like the prothrombin time (PT) and activated partial thromboplastin time (aPTT). These reagents contain a source of tissue factor and calcium ions to initiate and monitor the coagulation process.

... is a bleeding disorder characterized by a lack in the production of Factor VII (FVII) (proconvertin), a ... After a trauma factor VII initiates the process of coagulation in conjunction with tissue factor (TF/factor III) in the ... In the acquired of FVII deficiency an insufficient amount of factor VII is produced by the liver due to liver disease, vitamin ... of patients with FVII deficiency may also experience thrombotic episodes. Inherited or congenital FVII deficiency is passed on ...
"Characterization of seven novel mutations causing factor XI deficiency". Haematologica. 92 (10): 1375-1380. doi:10.3324/ ... factor XI deficiency) is centered on prolonged activated partial thromboplastin time (aPTT). One will find that the factor XI ... "Orphanet: Congenital factor XI deficiency Hemophilia C". www.orpha.net. Retrieved 2016-07-12. Orkin, Stuart H.; Nathan, David G ... "OMIM Entry - # 612416 - FACTOR XI DEFICIENCY". omim.org. Retrieved 2016-07-12. Kitchens, Craig S.; Konkle, Barbara A.; Kessler ...
The gene for factor VII is located on chromosome 13 (13q34). Factor VII deficiency (congenital proconvertin deficiency) is rare ... the interface between factor Xa and tissue factor in the quaternary complex tissue factor-factor VIIa-factor Xa-tissue factor ... or blood-coagulation factor VIIa, activated blood coagulation factor VII), which in turn activates factor IX and factor X. ... The main role of factor VII (FVII) is to initiate the process of coagulation in conjunction with tissue factor (TF/factor III ...
In those without previous factor VII deficiency, its use is not recommended outside of trial situations. Other medications may ... September 2010). "Results of the CONTROL trial: efficacy and safety of recombinant activated Factor VII in the management of ... Other controllable factors, such as the use of drugs including alcohol or cocaine, increases the risk of trauma by increasing ... By identifying risk factors present within a community and creating solutions to decrease the incidence of injury, trauma ...
... s are prone to developing juvenile cataracts, liver disease, factor VII deficiency and heart problems. Thyroid ...
Notably, deficiencies in factors VII or XIII will not be detected with the PTT test.[citation needed] Prolonged aPTT may ... Deficiencies of factors VIII, IX, XI and XII and rarely von Willebrand factor (if causing a low factor VIII level) may lead to ... coagulation factor deficiency (e.g., hemophilia) sepsis - coagulation factor consumption presence of antibodies against ... antiphospholipid antibodies or coagulation factor specific inhibitors), while if it does disappear a factor deficiency is more ...
... phlegmasia cerulea dolens and factor VII deficiency". BMJ Case Reports. 2016: bcr2016215078. doi:10.1136/bcr-2016-215078. PMC ... Genetic factors include non-O blood type, deficiencies of antithrombin, protein C, and protein S and the mutations of factor V ... As such, family history of VTE is a risk factor for a first VTE. Factor V Leiden, which makes factor V resistant to ... Tissue factor, via the tissue factor-factor VIIa complex, activates the extrinsic pathway of coagulation and leads to ...
... phlegmasia cerulea dolens and factor VII deficiency". BMJ Case Reports. 2016: bcr2016215078. doi:10.1136/bcr-2016-215078. PMC ... Given different clinical and situational factors, they can predict the likelihood of amputation. This is especially useful for ... Smith DG (2004). "Chapter 2. General principles of amputation surgery.". Atlas of Amputations and Limb Deficiencies: Surgical, ... proximal femoral focal deficiency, Fibular hemimelia) Extra digits and/or limbs (e.g., polydactyly) Bone infection ( ...
... other than in those with factor VII deficiency, it should only be given in clinical trials. Recombinant human factor VII, while ... Recombinant factor VIIa, which is an activated form of factor VII, bypasses factors VIII and IX and causes coagulation without ... Because factor VII acts directly on factor X, independently from factors VIII and IX, Cevenfacta can be used to restore ... Other indications include use for patients with acquired hemophilia, people born with a deficiency of factor VII, and people ...
... and therefore it should only be used in clinical trials or with patients with factor VII deficiency. A new product of this type ... Recombinant factor VIIa (rFVIIa) is not, as of 2012, supported by the evidence for most cases of major bleeding. Its use brings ... These may be particularly useful in situations where the wound is not clotting, which can be due to external factors, such as ... Simpson, E; Lin, Y; Stanworth, S; Birchall, J; Doree, C; Hyde, C (Mar 14, 2012). "Recombinant factor VIIa for the prevention ...
... factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor". ... She also identified the mutations responsible for several Factor VII and Factor X-deficient blood clotting disorders. High ... "Factor This! Series: An Interview with Dr. Katherine A. High ·". onthepulseconsultancy.com. 19 January 2018. Retrieved 6 ... Chapel Hill for seven years, where she started her career by developing a canine model of the study of gene therapy for ...
... and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). Haemophilia B was ... Factor IX when activated activates factor X which helps fibrinogen to fibrin conversion. Factor IX becomes active eventually in ... Factor IX deficiency leads to an increased propensity for haemorrhage, which can be either spontaneously or in response to mild ... Factor IX deficiency can cause interference of the coagulation cascade, thereby causing spontaneous haemorrhage when there is ...
A splice site mutation in the human gene for plasma factor VII that causes severe plasma factor VII deficiency, bleeding ... Many factors control the rate of mtDNA escapes from mitochondria to the nucleus. The higher rate of mutation in mtDNA in ... Some other factors influencing the escape of mtDNA from mitochondria include the action of mutagenic agents and other forms of ... The method is exactly the same as the method Thorsness and Fox used to determine the important mechanisms and factors for mtDNA ...
Von Willebrand's disease Hemophilia Leukemia HIV Chronic liver disease-cirrhosis causes deficiency of factor II, VII, IX,& X ... Risk factors include trauma, including putting the finger in the nose, blood thinners, high blood pressure, alcoholism, ... 75 (3): 143-7. doi:10.12968/hmed.2014.75.3.143. PMID 24621629. Béquignon, E.; Teissier, N.; Gauthier, A.; Brugel, L.; Kermadec ... 109 (7): 1111-1115. doi:10.1097/00005537-199907000-00019. PMID 10401851. S2CID 22724992. The Journal of Laryngology & Otology ( ...
Acquired cases are results from an isolated factor II deficiency. Specific cases include: Vitamin K deficiency: In the liver, ... factor VII, factor X, protein C protein S, or protein Z.". Thromb Res. 95 (4 Suppl 1): S39-50. doi:10.1016/S0049-3848(99)00083- ... Factor assays: To observe the performance of specific factors (II) to identify missing/poorly performing factors. These lab ... "Factor II Deficiency". DoveMed. Retrieved 2017-12-12. Bajaj S, Rapaport S, Fierer D, Herbst K, Schwartz D (1983). "A mechanism ...
II deficiency Factor V deficiency Factor V Leiden mutation Factor VII deficiency Factor VIII deficiency Factor X deficiency, ... congenital Factor X deficiency Factor XI deficiency, congenital Factor XIII deficiency, congenital Factor XIII deficiency ... 6-bisphosphatase deficiency Fructose-1-phosphate aldolase deficiency, heredita Fructosemia, hereditary Fructosuria Frydman- ... with nephrocalcinosis and renal stones Fanconi anemia Fara-Chlupackova syndrome Farber's disease Farmer's lung Fas deficiency ...
Factor XIII Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al. (2015). "Factor XIII Deficiency in ... "Recombinant Factor XIII". 2010. "Factor XIII". 2014-03-05. Muszbek, Laszlo; et al. (1999). "Blood coagulation factor XIII: ... "Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency". ... Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one ...
... factor V deficiency MeSH C16.320.099.310 - factor VII deficiency MeSH C16.320.099.320 - factor X deficiency MeSH C16.320. ... 099.325 - factor XI deficiency MeSH C16.320.099.330 - factor XII deficiency MeSH C16.320.099.335 - factor XIII deficiency MeSH ... mucopolysaccharidosis VII MeSH C16.320.565.202.720 - multiple carboxylase deficiency MeSH C16.320.565.202.720.100 - biotinidase ... pyruvate dehydrogenase complex deficiency disease MeSH C16.320.565.240 - cytochrome-c oxidase deficiency MeSH C16.320.565.390 ...
... factor v deficiency MeSH C15.378.100.141.310 - factor vii deficiency MeSH C15.378.100.141.320 - factor x deficiency MeSH ... factor v deficiency MeSH C15.378.100.425.310 - factor vii deficiency MeSH C15.378.100.425.320 - factor x deficiency MeSH ... factor v deficiency MeSH C15.378.463.310 - factor vii deficiency MeSH C15.378.463.320 - factor x deficiency MeSH C15.378. ... factor xi deficiency MeSH C15.378.100.141.330 - factor xii deficiency MeSH C15.378.100.141.335 - factor xiii deficiency MeSH ...
8 Glucose-6-phosphate dehydrogenase deficiency. A new aetiological factor of severe neonatal jaundice. 'Silent' β-thalassaemia ... 1963 Jun 1;1(7292):1182-3. IF=49 Thalassaemia, Glucose-6-Phosphate Dehydrogenase Deficiency, Sickling, and Malarial endemicity ... Thalassaemia, sickling, and glucose-6-phosphate-dexydrogenase deficiency. CHOREMIS C, FESSAS P, KATTAMIS C, STAMATOYANNOPOULOS ... Stamatoyannopoulos, George; Fessas, Phaedon (1964). "Thalassaemia, Glucose-6-Phosphate Dehydrogenase Deficiency, Sickling, and ...
Deficiency leads to predisposition for hemorrhage, while some mutations (most notably factor V Leiden) predispose for ... All prothrombotic factor V mutations (factor V Leiden, factor V Cambridge, factor V Hong Kong) make it resistant to cleavage by ... Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as proaccelerin or labile factor. ... Owren initially felt that factor V (labile factor or proaccelerin) activated another factor, which he named VI. VI was the ...
Its dysfunction has been associated with combined factors V and VIII deficiency, suggesting an important and substrate-specific ... "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood. 93 (7): 2261-6. ... 7 (3): 483-93. doi:10.1091/mbc.7.3.483. PMC 275899. PMID 8868475. Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, ... 77 (5): 625-6. doi:10.1016/0092-8674(94)90047-7. PMID 8205612. S2CID 21111364. Itin C, Roche AC, Monsigny M, Hauri HP (March ...
... factor, which is involved in platelet activation. Deficiencies in other factors, such as factor XIII or factor VII are ... For instance, deficiency of Factor VIII causes classic hemophilia A while deficiencies of Factor IX cause "Christmas disease"( ... Deficiencies of platelet function may require platelet transfusion while deficiencies of clotting factors may require ... hemophilia B). Antibodies to Factor VIII can also inactivate the Factor VII and precipitate bleeding that is very difficult to ...
... a vegetarian diet can be a risk factor for vitamin B12 deficiency. Normal daily intake of vitamin B12 is 7-30 micro gram, ... and also intrinsic factor (IF). Intrinsic factor also has a high binding affinity for vitamin B12, but because that position is ... and this is in fact a great way to distinguish folate deficiency macrocytic anemia, from vitamin B12 deficiency anemia. The ... This is a very rare, and unlikely cause of vitamin B12 deficiency but is a cause nonetheless. Defined as those seen in any ...
Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ... 1999). "Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency". Blood. 93 (7): ... Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene. ... "Entrez Gene: MCFD2 multiple coagulation factor deficiency 2". Nyfeler B, Zhang B, Ginsburg D, et al. (2007). "Cargo selectivity ...
MCFD2 is the second gene that leads to combined deficiency of factor V-factor VIII. ERGIC-53 and MCFD2 form a protein complex ... Using positional cloning, the gene was identified as the disease gene leading to combined deficiency of factor V-factor VIII, a ... 1997). "The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103". Am. J. Hum ... 1999). "ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families". Blood. 93 (7): ...
Vitamin K deficiency leads to the risk of blood coagulation problems due to impaired production of clotting factors II, VII, IX ... Vitamin K deficiency bleeding (VKDB) of the newborn, previously known as haemorrhagic disease of the newborn, is a rare form of ... Classical VKDB is more common and caused by the relative deficiency at birth with inadequate vitamin K intake. This is often ... More rarely VKDB can be caused by maternal medicines causing vitamin K deficiency in the newborn. VKDB can largely be prevented ...
Journal of Acquired Immune Deficiency Syndromes. 5 (11): 1142-7. PMID 1403646. Maruyama K, Sugano S (January 1994). "Oligo- ... increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor ... 19 (7): 4944-52. doi:10.1128/mcb.19.7.4944. PMC 84305. PMID 10373544. Hsieh YJ, Kundu TK, Wang Z, Kovelman R, Roeder RG ( ... 19 (7): 4944-52. doi:10.1128/mcb.19.7.4944. PMC 84305. PMID 10373544. Hsieh YJ, Kundu TK, Wang Z, Kovelman R, Roeder RG ( ...
This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor ... Journal of Acquired Immune Deficiency Syndromes. 5 (11): 1142-7. PMID 1403646. v t e (Articles with short description, Short ... 88: 925-7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512. "International Mouse Phenotyping Consortium". Skarnes WC, Rosen ... increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor ...
"HIV-1 Tat acts as a processivity factor in vitro in conjunction with cellular elongation factors". Genes & Development. 6 (4): ... Journal of Acquired Immune Deficiency Syndromes. 5 (11): 1142-7. PMID 1403646. Kato H, Sumimoto H, Pognonec P, Chen CH, Rosen ... 70 (7): 4576-84. doi:10.1128/JVI.70.7.4576-4584.1996. PMC 190394. PMID 8676484. Agostini I, Navarro JM, Rey F, Bouhamdan M, ... 92 (16): 7153-7. Bibcode:1995PNAS...92.7153W. doi:10.1073/pnas.92.16.7153. PMC 41297. PMID 7638159. Shpakovski GV, Acker J, ...
Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals. Explore symptoms, ... International Factor VII Deficiency Study Group. Clinical phenotypes and factor VII genotype in congenital factor VII ... The inherited form of factor VII deficiency, known as congenital factor VII deficiency, is caused by mutations in the F7 gene, ... However, up to one-third of people with factor VII deficiency never have any bleeding problems. Factor VII deficiency commonly ...
Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ... Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ... Inherited deficiencies of coagulation factors II, V, VII, XI and XIII and the combined deficiencies of factors V and VII and of ... Factor VII deficiency. Because factor VII deficiency is a rare disease, data concerning the pathophysiology are limited. Both ...
Factor VII deficiency is a bleeding disorder characterized by a lack in the production of Factor VII (FVII) (proconvertin), a ... After a trauma factor VII initiates the process of coagulation in conjunction with tissue factor (TF/factor III) in the ... In the acquired of FVII deficiency an insufficient amount of factor VII is produced by the liver due to liver disease, vitamin ... of patients with FVII deficiency may also experience thrombotic episodes. Inherited or congenital FVII deficiency is passed on ...
Clinical bleeding can widely vary and does not always correlate with the level of factor VII coagulant activity measured in ... deficiency is a rare autosomal recessive hemorrhagic disorder. ... Pediatric Factor VII Deficiency * Sections Pediatric Factor VII ... Workup in factor VII deficiency. Specific factor VII assays are required for diagnosis. Factor VII assays are performed by ... Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ...
"Factor VII Deficiency" by people in this website by year, and whether "Factor VII Deficiency" was a major or minor topic of ... "Factor VII Deficiency" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII ... Factor VII Deficiency*Factor VII Deficiency. *Deficiency, Factor Seven. *Deficiencies, Factor Seven ...
Clinical bleeding can widely vary and does not always correlate with the level of factor VII coagulant activity measured in ... deficiency is a rare autosomal recessive hemorrhagic disorder. ... Pediatric Factor VII Deficiency * Sections Pediatric Factor VII ... Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ... Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ...
Clinical bleeding can widely vary and does not always correlate with the level of factor VII coagulant activity measured in ... deficiency is a rare autosomal recessive hemorrhagic disorder. ... Pediatric Factor VII Deficiency * Sections Pediatric Factor VII ... Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of ... encoded search term (Pediatric Factor VII Deficiency) and Pediatric Factor VII Deficiency What to Read Next on Medscape ...
Coagulation Factor VII Deficiency, for the breed: Alaskan Husky. ... Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J ... Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed ... human activated factor VII and canine fresh frozen plasma in Beagles with hereditary coagulation factor VII deficiency. J Vet ... Coagulation factor VII deficiency is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two ...
Information on Factor VII deficiency
The symptoms of factor VII deficiency are different for everyone. As a general rule, the less factor VII a person has in his/ ... Factor VII deficiency may be inherited with other factor deficiencies. It can also be acquired later in life as a result of ... Factor VII deficiency is an inherited bleeding disorder that is caused by a problem with factor VII. Because the body produces ... Factor VII deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the ...
... PINOTTI, Mirko;BALESTRA, Dario;RIZZOTTO, Lara; ... Factor VII (FVII) is the plasma protease triggering coagulation, and its absence is lethal. Life-threatening hemorrhagic ... Factor VII (FVII) is the plasma protease triggering coagulation, and its absence is lethal. Life-threatening hemorrhagic ... We explored the snRNA-mediated rescue of coagulation factor VII (FVII) expression impaired by the IVS7+5 g/a mutation, which is ...
Factor VII Deficiency Factor VII Deficiency is an inherited blood clotting disorder that results in excessive bleeding ...
She received factor VII and tolerated an uncomplicated vaginal delivery. Her postpartum and postoperative courses were ... and hematology/oncology was consulted for optimal timing of factor VII replacement prior to procedures. The patient underwent ... of a multidisciplinary team to account for the risk of thrombosis versus hemorrhage and the availability of factor VII ... The prevalence of factor VII deficiency (F7D) is 1 in 500,000. Due to its rarity, the management of bleeding disorders in ...
HMB-001 recognizes and binds to factor VII (FVII) protein variants associated with moderate/severe FVII deficiency and drives ... factor VII deficiency, Bernard Soulier Syndrome, Von Willebrand Disease and other serious disorders. Learn more at hemab.com. ... announced results today from preclinical research of HMB-001 in models of factor VII (FVII) deficiency at the International ... Presents New Preclinical Research Demonstrating Effects of Its Bispecific Antibody HMB-001 in Factor VII Deficiency. ...
Factor VII Deficiency ... View other providers who treat Anemia and Iron Deficiency ...
Factor VII Deficiency. Beagle. Direct. PennGen. Fucosidosis. English Springer Spaniel. Direct. PennGen ... Pyruvate Kinase Deficiency (PK). Abyssinian. American Eskimo Dog Basenji. Beagle. Cairn Terrier. Chihuahua. Dachshund. DSH. ...
Growth hormone deficiency impairs blood clotting and reduces factor VII coagulant activity in rat. Thromb. Haemost. 73:626-629 ... we averaged the relative factor activity of each assay and calculated the mean factor activity of all factors relative to male ... A) Plasma from 4 individual male and female mice was mixed with the indicated human factor-deficient plasma, and factor ... C) The average of all procoagulant factor activity levels for each group. Factor activity levels were significantly lower in ...
Get up-to-date information on coagulation factor VIII side effects, uses, dosage, overdose, pregnancy, alcohol and more. Learn ... coagulation factor VIII is used in the treatment of:. *Factor VII Deficiency ... coagulation factor VIII is available in the following doses: *Antihemophilic Factor Human Intravenous Powder For Injection* ... Antihemophilic Factor Porcine Intravenous Powder For Injection*Antihemophilic Factor Recombinant Albumin-free Intravenous Kit* ...
Coagulation factor VII (P08709) (SMART). OMIM:227500: Factor VII deficiency ; {Myocardial infarction, decreased susceptibility ... Crystal Structure of tissue factor-factor VIIa complex. 1jbu. Coagulation Factor VII Zymogen (EGF2/Protease) in Complex with ... FACTOR XA - CATION INHIBITOR COMPLEX. 2ygo. WIF domain-EGF-like domain 1 of human Wnt inhibitory factor 1 in complex with 1,2- ... factor IXa superactive mutant, EGR-CMK inhibited. 2xbv. Factor Xa in complex with a pyrrolidine-3,4-dicarboxylic acid inhibitor ...
Coagulation factor VII (P08709) (SMART). OMIM:227500: Factor VII deficiency ; {Myocardial infarction, decreased susceptibility ... Human factor viia-tissue factor complexed with highly selective peptide inhibitor. 2zzu. Human Factor VIIA-Tissue Factor ... COAGULATION FACTOR, NMR, 15 STRUCTURES. 1wqv. Human Factor Viia-Tissue Factor Complexed with propylsulfonamide-D-Thr-Met-p- ... Crystal Structure of Benzamidine-Factor VIIa/Soluble Tissue Factor complex.. 2b7d. Factor VIIa Inhibitors: Chemical ...
... factor II of the coagulation cascade) is a critical protein in hemostasis. Decreased levels of prothrombin can lead to a ... Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb ... Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A. A severe neonatal presentation of factor II deficiency. Eur J ... Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. Proc Natl Acad Sci U S A ...
treatment of other factor deficiencies (e.g., factors II, VII, VIII, and X), ... number of factor IX IU required (IU)= body weight (kg) x desired factor IX increase (% or IU/dL) x 1.3 (IU/kg per IU/dL) ... number of factor IX IU Required (IU)= body weight (kg) x desired factor IX increase (% or IU/dL) x 1.4 (IU/kg per IU/dL) ... number of factor IX IU required (IU)= body weight (kg) x desired factor IX increase (% or IU/dL) x reciprocal of observed ...
... phlegmasia cerulea dolens and factor VII deficiency". BMJ Case Reports. 2016: bcr2016215078. doi:10.1136/bcr-2016-215078. PMC ... Smith DG (2004). "Chapter 2. General principles of amputation surgery.". Atlas of Amputations and Limb Deficiencies: Surgical, ... Given different clinical and situational factors, they can predict the likelihood of amputation. This is especially useful for ... Deformities of digits and/or limbs (e.g., proximal femoral focal deficiency, Fibular hemimelia) ...
... or factor VII deficiency. Coagulation factor VIIa may also be used for purposes not listed in this... ... Coagulation factor VIIa is used to treat or prevent bleeding in people with hemophilia A or hemophilia B, ... Coagulation factor VIIa is a man-made protein similar to a natural protein in the body that helps the blood to clot. ... What is coagulation factor VIIa? What is coagulation factor VIIa?. Coagulation factor VIIa is a man-made protein similar to a ...
Factor VII Deficiency $50 Add to cart A Locus (Fawn/Sable;Tri/Tan Points) ...
Factor VII (FVII) deficiency is characterized by normal activated partial thromboplastin time (aPTT) and prolonged prothrombin ... Prothrombin Time and International Normalized Ratio as Predictors of Factor VII Coagulation Activity in Pediatric Patients. * ... When PT is abnormal, determining FVII:C protein levels is needed for diagnosing FVII deficiency and considering surgical ... C in pediatric patients before otolaryngology surgery and to establish alternative methods for identifying FVII deficiency. ...
Factor VII Deficiency (F7 Exon 5) Identified in Beagles Variant not detected ... wed estimate a seven year old Great Dane at about 80 years old (senior citizen), but a seven year old Pom would be about 42 ( ... Dogs with two copies of the ancestral C allele are likely to have a straight coat, but there are other factors that can cause a ... NN dogs do not carry this duplication, but may have blue eyes due to other factors, such as merle. Please note that this is a ...
Factor II deficiency is a rare, inherited or acquired bleeding disorder. ... Clotting factor II, or prothrombin, is a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. ... assays of other clotting factors reveal a decrease in the level of all vitamin K-dependent factors (ie, factor II, factor VII, ... encoded search term (Factor II Deficiency) and Factor II Deficiency What to Read Next on Medscape ...
Congenital Factor Vii Deficiency. Ovarian cyst, Menorrhagia. ORPHA:327. Cowden Syndrome 5. ... Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio.... OMIM:618841. Congenital ... Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio.... OMIM:308700. ... Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi.... OMIM:308750. Cortisone ...

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