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MCID: FCT007

Factor Vii Deficiency malady
7 drugs, 16 genes, 3 tissues, 586 related diseases, 4 phenotypes, 68 articles, clinical trials, genetic tests.

Summaries for Factor Vii Deficiency

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44Wikipedia, 22MalaCards
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Wikipedia: Factor VII (formerly known as proconvertin) is one of the proteins that causes blood to clot in the...44 more...

MalaCards: Factor Vii Deficiency, also known as hypoproconvertinemia, is related to factor xii deficiency and thrombosis. An important gene associated with Factor Vii Deficiency is F2 (coagulation factor II (thrombin)), and among its related pathways are Common Pathway and Gamma-carboxylation of protein precursors. The drugs antihemophilic factor and antihemophilic factor,recombinant and the compounds ximelagatran and tranexamic acid have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related mouse phenotypes are immune system and cardiovascular system.

Aliases & Descriptions for Factor Vii Deficiency

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6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 16GeneTests, 8DISEASES, 32Novoseek , 43UMLS, 24MeSH, 40SNOMED-CT
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Aliases & Descriptions:

factor vii deficiency 6 7 30 8 32 43
hypoproconvertinemia 30 16
factor 7 deficiency 30 16
factor vii deficiency (disorder) 6
deficiency, stable 6
stable disease 32
f7 deficiency 30
malnutrition 43

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Related Diseases for Factor Vii Deficiency

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13GeneCards, 14GeneDecks
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Disease types for factor vii deficiency family:

factor v deficiency factor xiii deficiency
factor xii deficiency factor x deficiency
factor xi deficiency factor viii deficiency
factor xiiia deficiency factor xiiib deficiency
factor 2 deficiency

Diseases related to factor vii deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 574)
idRelated DiseaseScoreTop Affiliating Genes
1factor xii deficiency30.5F5, F3, F2
2thrombosis29.2F8, F5, F2
3von willebrand's disease29.0F9, F8, F7, F5, F3, F2
4dubin-johnson syndrome28.6F7, ABCC2
5factor x deficiency28.0F9, F7, F5, F3, F2, F10
6peritonitis27.8SERPINC1, F7, F3, F2, F10, EGF
7venous thrombosis27.5SERPINC1, F9, F8, F5, F3, F2
8hemophilia b26.8F9, F8, F7, F3, F2, F10
9sepsis26.7SERPINC1, F9, F7, F5, F3, F2
10short bowel syndrome26.2F3, F2, EGF
11chondrodysplasia punctata 1, x-linked26.1F8, F2
12vitamin k deficiency hemorrhagic disease26.0F9, F7, F3, F2
13osteoporosis26.0SERPINC1, F5, F3, F2, EGF
14factor xi deficiency25.9F9, F8, F7, F5, F3, F2
15insulin resistance25.7F9, F8, F7, F5, HNF4A, EGF
16pulmonary disease25.7SERPINC1, F5, F3, F2, EGF, ABCC2
17herpes simplex25.7SERPINC1, F9, F7, F3, F10, HNF4A
18inflammatory bowel disease25.6SERPINC1, F5, F3, F2, HNF4A, EGF
19factor v deficiency25.5F9, F8, F7, F5, F3, F2
20cerebritis25.4SERPINC1, F8, F7, F5, F3, F2
21cholestasis, progressive familial intrahepatic 125.1ABCC2, GGT1
22liver cirrhosis25.0SERPINC1, F9, F8, F3, F2, HNF4A
23celiac disease25.0F3, F2, EGF, GGT1
24hypothyroidism24.9SERPINC1, F9, F8, F3, F2
25hepatitis c24.9F2, ABCC2, GGT1
26obstructive jaundice24.8F5, F2, ABCC2, GGT1
27jaundice24.8F5, F2, ABCC2, GGT1
28periodontitis24.7F9, F7, F3, EGF, GGT1
29atherosclerosis24.7SERPINC1, F9, F8, F7, F5, F3
30diabetes mellitus24.6SERPINC1, F8, F7, F5, F3, F2
31hyperhomocysteinemia24.6SERPINC1, F9, F8, F7, F5, F3
32thromboembolism24.6SERPINC1, F9, F8, F7, F5, F3
33hemophilia24.6SERPINC1, F9, F8, F7, F5, F3
34immunodeficiency24.5SERPINC1, F9, F8, F3, F2, F10
35glomerulonephritis24.3SERPINC1, F9, F5, F3, TFPI, GGT1
36crohn's disease24.1SERPINC1, F9, F5, F2, GGT1
37anemia23.8SERPINC1, F9, F8, F5, F3, F2
38cystic fibrosis23.7SERPINC1, F9, F8, F5, F3, F2
39hyperthyroidism23.7F9, F5, F3, F2, TFPI, GGT1
40leukemia23.6SERPINC1, F9, F8, F5, F3, F2
41pancreatitis23.5SERPINC1, F5, F3, F2, F10, HNF4A
42nephropathy23.5F8, F5, F3, F10, HNF4A, EGF
43melanoma23.4F8, F7, F3, F2, F10, EGF
44hepatitis23.1SERPINC1, F9, F8, F7, F5, F3
45rheumatoid arthritis23.0SERPINC1, F5, F3, F2, F10, EGF
46arthritis23.0SERPINC1, F5, F3, F2, F10, EGF
47esophagitis22.4SERPINC1, F5, F3, F2, HNF4A, EGF
48hepatitis b22.4SERPINC1, F9, F8, F7, F5, F3
49fibrosis22.4SERPINC1, F9, F8, F5, F3, F2
50obesity21.5SERPINC1, F9, F8, F7, F5, F3

Graphical network of the top 20 diseases related to factor vii deficiency:



Graphical network of diseases related to factor vii deficiency

Clinical Features for Factor Vii Deficiency

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Drugs & Therapeutics for Factor Vii Deficiency

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS/NDF-RT:

43 28 antihemophilic factor, antihemophilic factor,human, antihemophilic factor,human,method m,monoclonal, antihemophilic factor,porcine, antihemophilic factor,recombinant, factor ix,recombinant, factor viia,recombinant

Genetic Tests for Factor Vii Deficiency

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16GeneTests
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Genetic tests related to factor vii deficiency:

id Genetic test Affiliating Genes
1 Factor Vii Deficiency
clinical/research 		F7

Anatomical Context for Factor Vii Deficiency

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21LifeMap Discovery™, 22MalaCards
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MalaCards organs/tissues related to factor vii deficiency:

22
T cells, B cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Embryonic and adult cells/anatomical compartments related to factor vii deficiency:
id Organ / Tissue -> Anatomical Compartment -> Cell Relevance
1 Liver -> Liver Lobule -> Hepatocytes Potential therapeutic candidate

Phenotypes for genes affiliated with Factor Vii Deficiency

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25MGI
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MGI Mouse Phenotypes related to factor vii deficiency:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1immune system phenotypeMP:00053878.1F9, F8, F2, TFPI, GGT1
2cardiovascular system phenotypeMP:00053857.5TFPI, F10, F2, F3, F5, F7
3mortality/agingMP:00107686.4F10, HNF4A, TFPI, GGT1, F2, F3
4homeostasis/metabolism phenotypeMP:00053765.8SERPINC1, GGT1, TFPI, ABCC2, HNF4A, F10

Publications for genes affiliated with Factor Vii Deficiency

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35PubMed
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Articles related to factor vii deficiency:

(show top 50)    (show all 68)
idTitleAuthorsYearAffiliating Genes
1Mutation in the factor VII hepatocyte nuclear factor 4I+-binding site contributes to factor VII deficiency. (21760481)Zheng X.W.... Pollak E.S.2011F7, HNF4A
2A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency. (21372693)Jiang M.... Ruan C.2011F7
3An inherited coagulation factor VII deficiency pedig ree caused by homozygous mutation of His348Gln]. (21287501)Jin Y.H.... Yang L.H.2011F7
4Prophylactic use of a recombinant activated factor V II in delivery haemorrhage by caesarean in a woman with major factor VII defici ency: a case report]. (22123573)Comes J.F.... Lecompte T.2011F7
5Asymptomatic factor VII deficiency: gene analysis and structure-function relationships. (20040857)Kirkel D.... Rickles F.R.2010F2
6The use of tissue thromboplastins of different origin is a fundamental tool in the initial characterization of FVII defects on 'factor VII deficiency (Semin Thromb Hemost 2009;35(4):400-406)'. (20391303)Girolami A.... Lombardi A.M.2010F3
7Major differences in bleeding symptoms between factor VII deficiency and hemophilia B. (19245420)Bernardi F.... Mariani G.2009F9
8Familial factor VII deficiency with foetal and neonat al fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation . (19432927)Landau D.... Kapelushnik J.2009F7
9The paradoxical association between inherited factor VII deficiency and venous thrombosis. (18282149)Marty S.... Giansily-Blaizot M.2008F7
10Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. (19141157)Lapecorella M.... Mariani G.2008F2
11Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. (18976247)Herrmann F.H.... Salazar-Sanchez L.2008F7
12Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V. (18556408)Herrmann F.H.... Schulman S.2008F7
13U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. (18156490)Pinotti M.... Pagani F.2008F7
14Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G). (17692102)Pruthi R.K.... Plumhoff E.A.2007F7
15Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation. (17849063)Zhidong W.... Xiaojun H.2007F7
16Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. (17606459)Jayandharan G.R.... Srivastava A.2007F7
17Life-threatening bleeding in a patient with a lupus inhibitor and probable acquired factor VII deficiency. (17102654)Lim S.... Mainwaring C.J.2006F3
18Studies on inherited coagulation factor VII deficiency and tissue factor abnormality in a pedigree (16792912)Ding Q.L.... Wang Z.Y.2006F7
19Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. (15735798)Mariani G.... Bernardi F.2005F7
20Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain. (15907525)Borensztajn K.... Tapon-BretaudiA"re J.2005F7
21Gene diagnosis of antithrombin deficiency and factor VII deficiency (15773338)Ozawa T.... Kitajima I.2005SERPINC1
22Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain. (15339682)D'Andrea G.... Margaglione M.2004F7
23Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s). (15590402)Furlan Freguia C.... Bernardi F.2004F7
24Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. (15456489)Fromovich-Amit Y.... Seligsohn U.2004F7
25Hepatocyte transplantation for inherited factor VII deficiency. (15614156)Dhawan A.... Mieli-Vergani G.2004F7
26Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients. (12695753)Rodrigues D.N.... Annichino-Bizzacchi J.M.2003F7
27Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp (12903033)Ding Q.L.... Wang Z.Y.2003F7
28Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications. (12935978)Sabater-Lleal M.... Soria J.M.2003F8
29Paracetamol poisoning unmasking factor VII deficiency. (11943961)Chilton A.P.... Elias E.2002F3
30Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term). (11529858)Takamiya O.... Okimoto Y.2001GFM1
31Molecular characterization of four novel mutations causing factor VII deficiency. (11920218)Tamary H.... Seligsohn U.2000F7
32Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. (11091194)Au W.Y.... Kwong Y.L.2000F7
33Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree (11236630)Wu Y.... Fang G.2000GGT1
34A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. (11110717)Carew J.A.... Bauer K.A.2000HNF4A
35Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. (11129332)Millar D.S.... Cooper D.N.2000F7
36Combined factor V and factor VII deficiency due to an independent segregation of the two defects. (10725995)Girolami A.... Fadin M.1999F5
37Factor VII deficiency detected in pregnancy: a case report. (10535614)Rizk D.E.... Deb P.1999F2, F3
38Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. (9680360)McVey J.H.... Tuddenham E.G.1998EGF
39Severe factor VII deficiency due to a mutation disrup ting an Sp1 binding site in the factor VII promoter. (9716591)Carew J.A.... Bauer K.A.1998PSG1
40Multiple intracranial hemorrhages at the time of a transiently prolonged activated partial thromboplastin time in an infant with congenital factor VII deficiency. (9885365)Erduran E.... Sari A.1998F3
41Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. (9576180)Ozawa T.... Sakuragawa N.1998F7
42Mutation pattern in clinically asymptomatic coagulation factor VII deficiency. (8844208)Bernardi F.... Marchetti G.1996F2, F7
43Coagulation factor VII deficiency in a chronic carrier of the B virus (8025194)Pallares Manrique H.... Herrerias Gutierrez J.M.1994F7
44Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. (8204879)Chaing S.... High K.A.1994F7
45Factor VII deficiency with intracranial hemorrhage: a case report. (8252461)Chen S.C.... Shu S.G.1993F2, F3
46A new method for factor VII deficient substrate prepa ration and coagulation studies in malaria. (7886582)Rojanasthien S.... Boonpucknavig S.1993F5
47Hereditary heterozygote factor VII deficiency (1479800)Laws H.J.... KAPster B.1992F2
48Factor VII clotting assay: influence of different thromboplastins and factor VII-deficient plasmas. CISMEL Study Group. (2053102)Poggio M.... Mannucci P.M.1991F3
49Anesthesia and coagulation factor VII deficiency (2008978)Blanot S.... Lienhart A.1991F7
50Occurrence of hereditary leaky red cell syndrome and partial coagulation factor VII deficiency in a Spanish family. (1666726)Vives Corrons J.L.... Enrich C.1991F7

Expression for genes affiliated with Factor Vii Deficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Factor Vii Deficiency

Pathways for genes affiliated with Factor Vii Deficiency

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38Reactome, 34PharmGKB, 36QIAGEN, 37R&D Systems, 20KEGG
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Pathways related to factor vii deficiency according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Common Pathway389.9SERPINC1, F5
2Gamma-carboxylation of protein precursors389.8F9, F10
3Warfarin Pathway, Pharmacodynamics349.4F10, F2, F7, F9
4Extrinsic Pathway389.1F3, TFPI
5Intrinsic Prothrombin Activation Pathway368.6F10, F2, F5, F8, F9, SERPINC1
6Extrinsic Prothrombin Activation Pathway368.2TFPI, SERPINC1, F7, F5, F3, F2
7Blood Coagulation Cascade367.4SERPINC1, F9, F8, F7, F5, F3
8Blood Coagulation Signaling Pathways377.4TFPI, F10, F2, F3, F5, F7
9Complement and coagulation cascades207.3SERPINC1, F9, F8, F7, F5, F3

Compounds for genes affiliated with Factor Vii Deficiency

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32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience
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Compounds related to factor vii deficiency according to GeneDecks:

(show top 50)    (show all 167)
idCompoundScoreTop Affiliating Genes
1ximelagatran32 9 9 12.0SERPINC1, F2, F10
2tranexamic acid32 9 9 11.8SERPINC1, F9, F8
3inogatran32 9.8F3, SERPINC1, F2, F5
4hirudin32 9.7F10, F5, F9, SERPINC1
5citrate32 9.7F10, F8, F9
6acenocoumarol32 34 9 9 12.7F2, F3, F5, F9
7rivaroxaban32 9 9 11.6F10, F2, F3, SERPINC1
8phenprocoumon32 34 9 9 12.6SERPINC1, F9, F3, F2
9ancrod32 9.6SERPINC1, F5, F2, F10
10organon32 9.5SERPINC1, F9, F3, F2, F10
11coumarins32 9.5F10, F2, F5, F9, F3
12ecarin32 9.5SERPINC1, F5, F3, F2, F10
13spectrozyme32 9.5SERPINC1, F5, F3, F2, F10
14danaparoid32 9.5F2, F5, F3, F10, SERPINC1
15heparinoids32 9.5F5, SERPINC1, F3, F2, F10
16levonorgestrel32 9 9 11.5SERPINC1, F2, F7, F5, F3
17bivalirudin32 9 9 11.5F10, F2, F3, F5, SERPINC1
18argatroban32 9 9 11.5F5, F10, F2, F3, SERPINC1
19Coagulation Factor IX9 9 10.5F2, F8, F7, F10
20protamine sulfate32 9.4SERPINC1, F10, F2, F3, F5
21rfviii32 9.4F9, F8, F5, F10
22ppack32 9.3F10, F3, F2, SERPINC1
23aprotinin32 9 9 11.3F9, F10, SERPINC1, F5, F2
24hydroxyethyl starch32 9.3SERPINC1, F8, F3, F2
25kininogen32 9.3F3, SERPINC1, F5, F2, F9, F7
26fondaparinux32 9.3F10, SERPINC1, F2, F3, F5, F9
27coumarin32 18 10.2F10, F2, F3, SERPINC1, F9, F5
28benzamidine32 9 9 11.2F5, F10, PRSS3, F9, SERPINC1
29dermatan sulfate32 9.2F2, F10, F3, F5, SERPINC1, F9
30cacl232 9.2F8, F3, F5, F10, F9
31Coagulation factor VIIa9 9 10.1F7, TFPI, F10, F3
32fibrinogen32 9.1F5, SERPINC1, F3, F9, F7, F10
33protamine32 9.1SERPINC1, F5, F3, F2, F10
34ristocetin32 9.1F9, F5, F3, F2, SERPINC1, F8
35cardiolipin32 9 9 11.1F8, F10, F2, F3, F5
36desmopressin32 42 9 9 12.0F2, SERPINC1, F9, F8, F5, F3
37kaolin32 9.0F2, F10, F3, F5, F8, F9
38dextran sulfate32 9.0SERPINC1, F9, F3, F10, F5
39homocysteine32 18 9.8F3, F2, F8, F9, SERPINC1, F5
40gamma-carboxyglutamic acid32 8.6F9, F7, F5, F3, F2, F10
41aspirin32 34 18 10.5F5, SERPINC1, F8, F3, F2, F10
42warfarin32 34 9 18 9 12.5F3, F10, F2, F5, SERPINC1, F9
43heparin32 9 18 9 11.1F9, TFPI, EGF, F10, F2, F3
44acetaminophen32 34 9 18 9 12.1F9, ABCC2, F8, F5, F2, F10
45aspartate32 7.8F9, F8, F7, F5, F10, GGT1
46phospholipid32 7.7TFPI, GFM1, F10, F8, F9, F5
47creatinine32 7.6F3, F5, GGT1, F2, F7, F8
48alanine32 7.0SERPINC1, F10, HNF4A, TFPI, GGT1, F3
49arginine32 6.8SERPINC1, ABCC2, PRSS3, F9, F10, GGT1
50serine32 5.7F5, F7, F8, F9, F3, F2

GO Terms for genes affiliated with Factor Vii Deficiency

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12Gene Ontology
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Cellular components related to factor vii deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to external side of plasma membraneGO:0312339.6F3, F10
2Golgi lumenGO:0057969.4F10, F2, F7, F9
3platelet alpha granule lumenGO:0310939.3F8, F5, EGF
4endoplasmic reticulum lumenGO:0057889.3F10, F2, F7, F9
5extracellular spaceGO:0056157.2PRSS3, TFPI, EGF, F2, F3, F5
6extracellular regionGO:0055766.5SERPINC1, PRSS3, PSG1, TFPI, EGF, F10
7plasma membraneGO:0058865.8F10, EGF, ABCC2, TFPI, GGT1, F2

Biological processes related to factor vii deficiency according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.2F7, F3
2positive regulation of positive chemotaxisGO:05092710.0F7, F3
3positive regulation of protein kinase B signaling cascadeGO:0518979.8F7, F3, F10
4positive regulation of blood coagulationGO:0301949.7F7, F2
5peptidyl-glutamic acid carboxylationGO:0171879.7F9, F7, F2, F10
6positive regulation of cell migrationGO:0303359.6F7, F3, F10
7post-translational protein modificationGO:0436879.6F10, F2, F7, F9
8blood coagulation, intrinsic pathwayGO:0075979.4F10, F2, F8, F9
9platelet degranulationGO:0025769.2EGF, F5, F8
10platelet activationGO:0301689.2EGF, F2, F5, F8
11proteolysisGO:0065089.0PRSS3, F10, F2, F7, F9
12blood coagulation, extrinsic pathwayGO:0075988.8TFPI, F10, F3, F7, F9
13blood coagulationGO:0075966.9SERPINC1, TFPI, EGF, HNF4A, F10, F2

Molecular functions related to factor vii deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042528.9F9, F7, F2, F10, PRSS3
2calcium ion bindingGO:0055098.3PRSS3, EGF, F10, F2, F7, F9
3protein bindingGO:0055156.4PRSS3, ABCC2, EGF, HNF4A, F10, F2

Sources for Factor Vii Deficiency

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2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS
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