MCID: FCT007
MIFTS: 62

Factor Vii Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Vii Deficiency

MalaCards integrated aliases for Factor Vii Deficiency:

Name: Factor Vii Deficiency 53 37 12 72 49 24 71 28 13 51 41 14 69
Hypoproconvertinemia 53 49 24 55 71
F7 Deficiency 53 49 24 71
Congenital Proconvertin Deficiency 49 55 71
Factor 7 Deficiency 49 71
Serum Prothrombin Conversion Accelerator Deficiency 24
Prothrombin Conversion Accelerator Deficiency 24
Congenital Factor Vii Deficiency 55
Proconvertin Deficiency 24
Deficiency, Stable 12
Stable Disease 51
Fa7d 71

Characteristics:

Orphanet epidemiological data:

55
congenital factor vii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
incidence of 1 in 500,000 live births


HPO:

31
factor vii deficiency:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 227500
Disease Ontology 12 DOID:2215
ICD10 32 D68.2
MeSH 41 D005168
SNOMED-CT 64 154820003 37193007
Orphanet 55 ORPHA327
UMLS via Orphanet 70 C0015503
ICD10 via Orphanet 33 D68.2
MedGen 39 C0015503
UMLS 69 C0015503

Summaries for Factor Vii Deficiency

Genetics Home Reference : 24 Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in infancy. However, up to one-third of people with factor VII deficiency never have any bleeding problems. Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the gums, easy bruising, and prolonged or excessive bleeding following surgery or physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the urine (hematuria) occasionally occur. Many women with factor VII deficiency have heavy or prolonged menstrual bleeding (menorrhagia). Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage) or in the gastrointestinal tract, which can be life-threatening. Although factor VII deficiency is primarily associated with increased bleeding, some people with the condition have excessive blood clotting (thrombosis).

MalaCards based summary : Factor Vii Deficiency, also known as hypoproconvertinemia, is related to acquired hemophilia a and purpura fulminans, and has symptoms including gastrointestinal hemorrhage, epistaxis and bruising susceptibility. An important gene associated with Factor Vii Deficiency is F7 (Coagulation Factor VII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Thrombin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and heart, and related phenotype is homeostasis/metabolism.

OMIM : 53 Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations. (227500)

UniProtKB/Swiss-Prot : 71 Factor VII deficiency: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.

Wikipedia : 72 Factor VII deficiency is a bleeding disorder characterized by a lack in the production of Factor VII... more...

Related Diseases for Factor Vii Deficiency

Diseases related to Factor Vii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 31.9 F3 F8 F9
2 purpura fulminans 29.5 F2 F3
3 compartment syndrome 29.5 F2 F8
4 factor viii deficiency 29.3 F2 F8
5 thrombosis 29.3 F10 F2 F3 F9
6 severe hemophilia a 29.2 F2 F3 F8
7 hemophilia a 29.2 F10 F3 F7 F8 F9
8 hemophilia 29.0 F2 F3 F7 F8 F9
9 cardiac tamponade 29.0 F2 F8 F9
10 von willebrand's disease 28.8 F2 F3 F8 F9
11 pulmonary embolism 28.8 F10 F2 F3 F9
12 thrombophilia due to thrombin defect 28.4 F10 F2 F3 F8
13 factor x deficiency 28.3 F10 F2 F3 F7 F9
14 hemophilia b 27.6 EGF F10 F2 F3 F7 F8
15 factor xii deficiency 10.3 F3 F9
16 malignant skin fibrous histiocytoma 10.3 F7 F9
17 von willebrand disease, type 2 10.3 F7 F8
18 heparin-induced thrombocytopenia 10.3 F10 F3
19 severe hemophilia b 10.3 F8 F9
20 acquired von willebrand syndrome 10.3 F8 F9
21 malignant dermis tumor 10.2 F7 F9
22 carotid artery thrombosis 10.2 F10 F3
23 intracranial thrombosis 10.2 F3 F8
24 multicentric castleman disease 10.2 F3 F8
25 factor xiii deficiency 10.2 F3 F8
26 mild hemophilia a 10.2 F10 F8
27 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
28 mesenteric vascular occlusion 10.1 F2 F7
29 cerebral falx meningioma 10.1 F2 F3
30 intestinal impaction 10.1 F2 F3
31 cerebral sinovenous thrombosis 10.0 F2 F3
32 qualitative platelet defect 10.0 F2 F3
33 giant hemangioma 10.0 F2 F3
34 sagittal sinus thrombosis 10.0 F2 F3
35 blue toe syndrome 10.0 F2 F3
36 intracranial embolism 10.0 F2 F3
37 femoral neuropathy 10.0 F2 F3
38 hantavirus pulmonary syndrome 10.0 F2 F3
39 marantic endocarditis 10.0 F2 F3
40 splenic disease 10.0 F2 F3
41 korean hemorrhagic fever 10.0 F2 F3
42 cerebritis 10.0
43 hepatic infarction 10.0 F2 F3
44 peripheral vertigo 10.0 F2 F3
45 x-linked disease 10.0 F8 F9
46 squamous cell papilloma 10.0 F2 F3
47 dubin-johnson syndrome 10.0
48 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.0
49 hemorrhagic fever 10.0 F2 F3
50 branch retinal artery occlusion 9.9 F2 F3

Graphical network of the top 20 diseases related to Factor Vii Deficiency:



Diseases related to Factor Vii Deficiency

Symptoms & Phenotypes for Factor Vii Deficiency

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Skeletal:
hemarthrosis

Laboratory Abnormalities:
factor vii deficiency

Neurologic Central Nervous System:
intracranial hemorrhage

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas


Clinical features from OMIM:

227500

Human phenotypes related to Factor Vii Deficiency:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastrointestinal hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002239
2 epistaxis 55 31 frequent (33%) Frequent (79-30%) HP:0000421
3 bruising susceptibility 55 31 frequent (33%) Frequent (79-30%) HP:0000978
4 gingival bleeding 55 31 frequent (33%) Frequent (79-30%) HP:0000225
5 intracranial hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002170
6 menorrhagia 55 31 frequent (33%) Frequent (79-30%) HP:0000132
7 prolonged prothrombin time 55 31 frequent (33%) Frequent (79-30%) HP:0008151
8 prolonged bleeding after surgery 55 31 frequent (33%) Frequent (79-30%) HP:0004846
9 joint hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0005261
10 ovarian cyst 55 31 occasional (7.5%) Occasional (29-5%) HP:0000138
11 abnormality of the umbilical cord 55 31 occasional (7.5%) Occasional (29-5%) HP:0010881
12 post-partum hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0011891
13 intramuscular hematoma 31 HP:0012233
14 reduced factor vii activity 31 HP:0008169

MGI Mouse Phenotypes related to Factor Vii Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 F3 F7 F8 F9 GFM1 HNF4A

Drugs & Therapeutics for Factor Vii Deficiency

Drugs for Factor Vii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2 Coagulants
3 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study Comparing the Pharmacokinetic of Biosimilar Eptacog Alfa With Novoseven®, in Patients With Congenital Factor VII Deficiency Recruiting NCT03079063 Phase 3
2 Study of the Pharmacokinetics and Safety of Recombinant Factor VIIa Fusion Protein (rVIIa-FP, CSL689) in Patients With Congenital Factor VII Deficiency Completed NCT02470871 Phase 1
3 Treatment of Inherited Factor VII Deficiency Completed NCT01269138 plasma derived Factor VII;recombinant FVIIa;Fresh Frozen Plasma;Activated Prothrombin Complex Concentrates;Virus Inactivated plasma
4 Treatment of Congenital Factor VII Deficiency Completed NCT01779921 activated recombinant human factor VII;Fresh frozen plasma (Source unspecified);Plasma-derived FVII (LFB);Prothrombin Complex conc. (PCC);Plasma-derived FVII conc. (pdFVII Baxter);Plasma-derived FVII conc. (pdFVII PFL)
5 Prospective, Non-interventional Study to Evaluate Immunogenicity of AryoSeven Enrolling by invitation NCT03372993

Search NIH Clinical Center for Factor Vii Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: factor vii deficiency

Genetic Tests for Factor Vii Deficiency

Genetic tests related to Factor Vii Deficiency:

# Genetic test Affiliating Genes
1 Factor Vii Deficiency 28 F7

Anatomical Context for Factor Vii Deficiency

MalaCards organs/tissues related to Factor Vii Deficiency:

38
Liver, Heart, Testes, Brain, Bone, Bone Marrow, Myeloid
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Factor Vii Deficiency:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate

Publications for Factor Vii Deficiency

Articles related to Factor Vii Deficiency:

(show top 50) (show all 394)
# Title Authors Year
1
Delayed Presentation of Compartment Syndrome of the Thigh in a Previously Undiagnosed Factor VII-Deficient High School Football Athlete: A Case Report. ( 29369058 )
2018
2
Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency. ( 29368589 )
2018
3
Factor VII deficiency in major artery occlusion stroke. ( 29318701 )
2018
4
Pediatric cardiac intervention in a case of congenital factor VII deficiency: a challenge to overcome. ( 29398832 )
2018
5
Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain. ( 29246447 )
2018
6
Factor VII deficiency diagnosed after minor genital trauma. ( 28111834 )
2017
7
Cerebral Venous Sinus Thrombosis in a Patient with Undiagnosed Factor VII Deficiency. ( 28969734 )
2017
8
Thrombosis in a bleeding disorder: case of thromboembolism in factor VII deficiency. ( 28265390 )
2017
9
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. ( 28447100 )
2017
10
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012-2014). ( 29035661 )
2017
11
Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children. ( 28684918 )
2017
12
Management of Surgical Third Lower Molar Extraction and Postoperative Progress in Patients With Factor VII Deficiency: A Clinical Protocol and Focus on This Rare Pathologic Entity. ( 28672139 )
2017
13
Congenital factor VII deficiency: Multidisciplinary approach is the key to successful perioperative outcome. ( 28405048 )
2017
14
Pulmonary embolism in a patient with mild factor VII deficiency after administration of recombinant activated factor VII during a urological procedure. ( 28452972 )
2017
15
HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY A F7 MISSENSE MUTATION. ( 28118558 )
2017
16
Coronary artery stenosis treatment in aging patients with inherited Factor VII deficiency: Where do we stand? ( 29102389 )
2017
17
Two-incision laparoscopic appendectomy for a severe hemophilia A child patient with coagulation factor VII deficiency: Case report and review of literature. ( 29019885 )
2017
18
Management of concomitant factor VII deficiency and Factor V Leiden mutation. ( 28111927 )
2017
19
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. ( 28350321 )
2017
20
Factor VII Deficiency: From Basics to Clinical Laboratory Diagnosis and Patient Management. ( 27701084 )
2016
21
Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. ( 26962982 )
2016
22
Prophylactic treatment of hereditary severe factor VII deficiency in pregnancy. ( 27306331 )
2016
23
Management of Labour and Delivery in a Patient With Acquired Factor VII Deficiency With Inhibitor: A Case Report. ( 27032741 )
2016
24
Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies. ( 27338009 )
2016
25
Acquired factor VII deficiency following FOLFOX in a patient with colorectal cancer who was also DPD deficient. ( 26770273 )
2016
26
Continuous infusion of human prothrombin complex in a patient with congenital factor VII deficiency undergoing laparoscopic cholecystectomy: A case report from China. ( 27837703 )
2016
27
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. ( 28018685 )
2016
28
Anticoagulation Therapy Considerations in Factor VII Deficiency. ( 27747688 )
2016
29
Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment. ( 28038846 )
2016
30
Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. ( 26852649 )
2016
31
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
32
Lower extremity compartment syndrome in the setting of iliofemoral deep vein thrombosis, phlegmasia cerulea dolens and factor VII deficiency. ( 27113791 )
2016
33
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. ( 27513915 )
2016
34
Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency. ( 27776919 )
2016
35
Elevated prothrombin time on routine preoperative laboratory results in a healthy infant undergoing craniosynostosis repair: Diagnosis and perioperative management of congenital factor VII deficiency. ( 27218201 )
2016
36
Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s. ( 26761581 )
2016
37
Inhibitor development after liver transplantation in congenital factor VII deficiency. ( 27501477 )
2016
38
Long-term prophylaxis in severe factor VII deficiency. ( 25952977 )
2015
39
Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery. ( 26249164 )
2015
40
Isolated acquired factor VII deficiency: review of the literature. ( 26400474 )
2015
41
Japanese family with congenital factor VII deficiency. ( 26310716 )
2015
42
A novel gene insertion combined with a missense mutation causing factor VII deficiency in two unrelated Chinese families. ( 26083983 )
2015
43
Anaesthetic management of a parturient with factor VII deficiency and sepsis. ( 26303752 )
2015
44
Phenotypic and genotypic characterization of four factor VII deficiency patients from central China. ( 25767893 )
2015
45
First living-related liver transplant to cure factor VII deficiency. ( 26152797 )
2015
46
Factor VII deficiency presenting as a possible child abuse. ( 25796593 )
2015
47
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. ( 26012727 )
2015
48
Prevention of bleeding and hemorrhagic complications in surgical patients with inherited factor VII deficiency. ( 25688458 )
2015
49
Prothrombin complex concentrate for factor VII replacement in a patient undergoing left ventricular assist device implantation with factor VII deficiency. ( 26010391 )
2015
50
A rare combination: congenital factor VII deficiency with Chiari malformation. ( 26248161 )
2015

Variations for Factor Vii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Factor Vii Deficiency:

71 (show top 50) (show all 108)
# Symbol AA change Variation ID SNP ID
1 F7 p.Arg139Lys VAR_006497
2 F7 p.Arg139Gln VAR_006498 rs150525536
3 F7 p.Arg139Trp VAR_006499 rs776796178
4 F7 p.Gly157Ser VAR_006500 rs763458490
5 F7 p.Gly157Cys VAR_006501
6 F7 p.Gln160Arg VAR_006502 rs200016360
7 F7 p.Pro194Thr VAR_006503
8 F7 p.Lys197Glu VAR_006504
9 F7 p.Arg212Gln VAR_006505 rs868044209
10 F7 p.Cys238Tyr VAR_006506 rs121964928
11 F7 p.Arg283Trp VAR_006507 rs779589651
12 F7 p.Ala304Val VAR_006508 rs121964931
13 F7 p.Arg307His VAR_006509 rs121964929
14 F7 p.Glu325Lys VAR_006510 rs749760143
15 F7 p.Ala354Val VAR_006511 rs36209567
16 F7 p.Met358Ile VAR_006512 rs149283257
17 F7 p.Met358Val VAR_006513
18 F7 p.Arg364Gln VAR_006514 rs121964926
19 F7 p.Cys370Phe VAR_006515 rs121964927
20 F7 p.Gly402Arg VAR_006516
21 F7 p.Gly402Glu VAR_006517
22 F7 p.Thr419Met VAR_006519 rs121964930
23 F7 p.Leu13Pro VAR_014391 rs387906507
24 F7 p.Cys389Gly VAR_014392 rs121964934
25 F7 p.Leu73Gln VAR_014405 rs45572939
26 F7 p.Glu79Gln VAR_014406
27 F7 p.Cys121Phe VAR_014407
28 F7 p.Leu125Pro VAR_014408
29 F7 p.Tyr128Cys VAR_014409
30 F7 p.Cys151Ser VAR_014410
31 F7 p.Gly157Val VAR_014411 rs771335282
32 F7 p.Cys195Arg VAR_014412 rs372577568
33 F7 p.Thr241Asn VAR_014413
34 F7 p.Asp302His VAR_014414
35 F7 p.Asp302Asn VAR_014415 rs770328850
36 F7 p.Ala304Thr VAR_014416 rs773627551
37 F7 p.Arg307Cys VAR_014417 rs147680958
38 F7 p.Thr332Met VAR_014418 rs200212201
39 F7 p.Gly391Ser VAR_014419 rs190485816
40 F7 p.Gly435Glu VAR_014420 rs756956471
41 F7 p.Phe64Leu VAR_015135
42 F7 p.Ser120Pro VAR_015136
43 F7 p.Glu154Lys VAR_015137 rs146795869
44 F7 p.Gly216Asp VAR_015138
45 F7 p.Cys254Tyr VAR_015139
46 F7 p.Ala266Thr VAR_015140 rs764807079
47 F7 p.Val312Met VAR_015141 rs201991361
48 F7 p.Val341Phe VAR_015142
49 F7 p.Pro363Arg VAR_015143 rs963430078
50 F7 p.Asp403His VAR_015144

ClinVar genetic disease variations for Factor Vii Deficiency:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 F7 F7, CYS310PHE single nucleotide variant Pathogenic
2 F7 F7, CYS178TYR single nucleotide variant Pathogenic
3 F7 F7, ARG247HIS single nucleotide variant Pathogenic
4 F7 F7, THR359MET undetermined variant Pathogenic
5 F7 F7, ALA244VAL single nucleotide variant Pathogenic
6 F7 F7, ASN57ASP single nucleotide variant Pathogenic
7 F7 F7, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
8 F7 NM_000131.4(F7): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs387906507 GRCh37 Chromosome 13, 113760193: 113760193
9 F7 NM_000131.4(F7): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs36209567 GRCh37 Chromosome 13, 113772982: 113772982
10 F7 NM_000131.4(F7): c.849_865del17 (p.Arg284Hisfs) deletion Pathogenic rs786205091 GRCh37 Chromosome 13, 113772770: 113772786
11 F7 F7, 1-BP DEL, 11128C deletion Pathogenic
12 F10; F7 NM_000131.4(F7): c.1238G> A (p.Arg413Gln) single nucleotide variant risk factor rs6046 GRCh37 Chromosome 13, 113773159: 113773159
13 F7 F7, -61T-G single nucleotide variant Pathogenic
14 F7 F7, -94C-G single nucleotide variant Pathogenic
15 F7 F7, -55C-T single nucleotide variant Pathogenic
16 F7 F7, CYS61TER undetermined variant Pathogenic
17 F7 NM_000131.4(F7): c.1165T> G (p.Cys389Gly) single nucleotide variant Pathogenic rs121964934 GRCh37 Chromosome 13, 113773086: 113773086
18 F7 NM_000131.4(F7): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs267606790 GRCh37 Chromosome 13, 113771136: 113771136
19 F7 F7, GLU25LYS undetermined variant Pathogenic
20 F7 NM_000131.4(F7): c.1224T> G (p.His408Gln) single nucleotide variant Pathogenic rs121964936 GRCh37 Chromosome 13, 113773145: 113773145
21 F7 F7, GLY354CYS undetermined variant Pathogenic
22 F7 NM_000131.4(F7): c.983T> C (p.Phe328Ser) single nucleotide variant Pathogenic rs387906508 GRCh37 Chromosome 13, 113772904: 113772904
23 F7 NM_000131.4(F7): c.1285G> A (p.Ala429Thr) single nucleotide variant Likely pathogenic rs755377592 GRCh38 Chromosome 13, 113118892: 113118892

Expression for Factor Vii Deficiency

Search GEO for disease gene expression data for Factor Vii Deficiency.

Pathways for Factor Vii Deficiency

Pathways related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 EGF F10 F2 F3 F7 F8
2
Show member pathways
12.46 F10 F2 F3 F7 F8 F9
3
Show member pathways
11.7 F10 F2 F7 F9
4
Show member pathways
11.63 F10 F2 F3 F7 F8 F9
5 11.24 F10 F2 F3 F7 F8 F9
6 11.05 F2 HNF4A
7 10.63 F10 F2 F7 F9

GO Terms for Factor Vii Deficiency

Cellular components related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 EGF F10 F2 F3 F7 F8
2 extracellular space GO:0005615 9.85 EGF F2 F3 F7 F8 F9
3 intrinsic component of external side of plasma membrane GO:0031233 9.26 F10 F3
4 Golgi lumen GO:0005796 9.26 F10 F2 F7 F9
5 serine-type peptidase complex GO:1905286 9.16 F3 F7
6 endoplasmic reticulum lumen GO:0005788 9.02 F10 F2 F7 F8 F9

Biological processes related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 F10 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.78 EGF F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.73 EGF F10 F3 F7
5 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
6 blood coagulation, intrinsic pathway GO:0007597 9.62 F10 F2 F8 F9
7 peptidyl-glutamic acid carboxylation GO:0017187 9.56 F10 F2 F7 F9
8 protein processing GO:0016485 9.55 F3 F7
9 acute-phase response GO:0006953 9.52 F2 F8
10 positive regulation of blood coagulation GO:0030194 9.51 F2 F7
11 blood coagulation GO:0007596 9.5 F10 F2 F3 F7 F8 F9
12 positive regulation of positive chemotaxis GO:0050927 9.49 F3 F7
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F3 F7
14 blood coagulation, extrinsic pathway GO:0007598 9.46 F10 F3 F7 F9
15 hemostasis GO:0007599 9.1 F10 F2 F3 F7 F8 F9

Molecular functions related to Factor Vii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 EGF F10 F2 F3 F7 F8
2 peptidase activity GO:0008233 9.56 F10 F2 F7 F9
3 calcium ion binding GO:0005509 9.55 EGF F10 F2 F7 F9
4 serine-type peptidase activity GO:0008236 9.26 F10 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.02 F10 F2 F3 F7 F9

Sources for Factor Vii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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