FA7D
MCID: FCT007
MIFTS: 61

Factor Vii Deficiency (FA7D) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Vii Deficiency

Aliases & Descriptions for Factor Vii Deficiency:

Name: Factor Vii Deficiency 54 38 12 50 24 25 66 13 52 42 14 69
Hypoproconvertinemia 50 24 25 56 66
Congenital Proconvertin Deficiency 50 56 66
Factor 7 Deficiency 50 66 29
F7 Deficiency 50 25 66
Serum Prothrombin Conversion Accelerator Deficiency 25
Prothrombin Conversion Accelerator Deficiency 25
Congenital Factor Vii Deficiency 56
Proconvertin Deficiency 25
Deficiency, Stable 12
Stable Disease 52
Fa7d 66

Characteristics:

Orphanet epidemiological data:

56
congenital factor vii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
factor vii deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 227500
Disease Ontology 12 DOID:2215
ICD10 33 D68.2
MeSH 42 D005168
SNOMED-CT 64 154820003 37193007
Orphanet 56 ORPHA327
UMLS via Orphanet 70 C0015503
ICD10 via Orphanet 34 D68.2
MedGen 40 C0015503
UMLS 69 C0015503

Summaries for Factor Vii Deficiency

Genetics Home Reference : 25 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 neuronopathy, distal hereditary motor, type iid, and has symptoms including epistaxis, intracranial hemorrhage and menorrhagia. 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 Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and heart, and related phenotypes are homeostasis/metabolism and normal

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al.,... (227500) more...

Wikipedia : 71 Factor VII (EC 3.4.21.21, blood-coagulation factor VIIa, activated blood coagulation 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 135)
id Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 11.1
2 neuronopathy, distal hereditary motor, type iid 10.2 F3 F9
3 noma 10.2 F3 F9
4 porphyria 10.2 F2 F7
5 hemarthrosis 10.2 F2 F3
6 influenza 10.2 F2 F3
7 pancreatic ductal carcinoma 10.2 F2 F3
8 chorioretinal scar 10.2 F2 F3
9 vaginal yolk sac tumor 10.2 F7 F9
10 hendra virus infection 10.2 F2 F3
11 mixed hepatoblastoma 10.2 F2 F3
12 prostatic hypertrophy 10.2 F2 F3
13 dmd-related dilated cardiomyopathy 10.2 F2 F3
14 spinal cord lipoma 10.2 F2 F3
15 sporotrichosis 10.2 F2 F3
16 midline cystocele 10.2 F2 F3
17 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
18 brain stem cancer 10.2 F2 F3
19 ductal carcinoma in situ 10.2 F2 F3
20 epstein-barr virus hepatitis 10.1 F2 F3
21 dysgammaglobulinemia 10.1 F2 F7
22 retroperitoneal leiomyosarcoma 10.1 F7 F9
23 blepharoconjunctivitis 10.1 F2 F3
24 intestinal disaccharidase deficiency 10.1 F2 F3
25 hypertrichosis 10.1 F3 F8
26 primary peritoneal carcinoma 10.1 F8 F9
27 mobitz type ii atrioventricular block 10.1 F2 F3
28 acromegaloid hypertrichosis syndrome 10.1 F8 F9
29 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.1 F2 F3
30 artery disease 10.1 F2 F3
31 red color blindness 10.1 F2 F3
32 inherited blood coagulation disease 10.1 F3 F8
33 hereditary alpha tryptasemia syndrome 10.1 F2 F3
34 multiple mitochondrial dysfunctions syndrome 10.1 F3 F8
35 vaginal discharge 10.1 F2 F9
36 social phobia 10.1 F2 F8
37 central retinal artery occlusion 10.1 F2 F3
38 zika virus congenital syndrome 10.1 F3 F8
39 bullous skin disease 10.1 F2 F8
40 neuroaxonal dystrophy 10.1 F2 F8
41 seminoma 10.1 F2 F3 F7
42 thrombophilia due to activated protein c resistance 10.1 F2 F3 F7
43 lynch syndrome 10.1 F2 F8
44 capillary hemangioma 10.1 F2 F3
45 hemophilia 10.0
46 thrombosis 10.0
47 thyroid cancer, anaplastic 10.0 F3 F8
48 pyrimidine metabolic disorder 10.0 F2 F3 F7
49 hennekam lymphangiectasia-lymphedema syndrome 2 10.0 F2 F3
50 uterine corpus cancer 10.0 F2 F3 F9

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 by clinical synopsis from OMIM:

227500

Clinical features from OMIM:

227500

Human phenotypes related to Factor Vii Deficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 intracranial hemorrhage 32 HP:0002170
3 menorrhagia 32 HP:0000132
4 joint hemorrhage 32 HP:0005261
5 reduced factor vii activity 32 HP:0008169
6 intramuscular hematoma 32 HP:0012233

MGI Mouse Phenotypes related to Factor Vii Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 F3 F7 F8 F9 GFM1 HNF4A
2 normal MP:0002873 9.02 EGF F2 F3 F7 HNF4A

Drugs & Therapeutics for Factor Vii Deficiency

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

(show top 50) (show all 56)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4
3 Coagulants Phase 4,Phase 3
4 Factor VIII Phase 4
5 Hemostatics Phase 4,Phase 3
6 Thrombin Phase 4,Phase 3
7 Anticoagulants Phase 4,Phase 3
8
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Busulfan Approved, Investigational Phase 2 55-98-1 2478
11
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13
rituximab Approved Phase 2 174722-31-7 10201696
14
Thiotepa Approved Phase 2 52-24-4 5453
15
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
18
Mesna Approved Phase 2 3375-50-6 598
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 tannic acid Approved, Nutraceutical Phase 2
24 Alkylating Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 Immunosuppressive Agents Phase 2
30 N-monoacetylcystine Phase 2
31 Thioctic Acid Phase 2
32 Tocopherols Phase 2
33 Tocotrienols Phase 2
34 Vitamins Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antibiotics, Antitubercular Phase 2
37 Antifungal Agents Phase 2
38 Anti-Infective Agents Phase 2
39 Antirheumatic Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Dermatologic Agents Phase 2
42 Alpha-lipoic Acid Nutraceutical Phase 2
43 Tocopherol Nutraceutical Phase 2
44 Tocotrienol Nutraceutical Phase 2
45
Warfarin Approved 81-81-2 6691 54678486
46
Menadione Approved, Nutraceutical 58-27-5 4055
47
Phytonadione Approved, Nutraceutical 84-80-0 4812 5284607
48 Protein C
49 Fibrinolytic Agents
50 Micronutrients

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4
2 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
3 Prothrombin Complex Concentrate for Anticoagulant Reversal Completed NCT00168077 Phase 3
4 Study Comparing the Pharmacokinetic of Biosimilar Eptacog Alfa With Novoseven®, in Patients With Congenital Factor VII Deficiency Recruiting NCT03079063 Phase 3
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
6 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
7 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
8 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
9 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1
10 Treatment of Inherited Factor VII Deficiency Completed NCT01269138
11 Treatment of Congenital Factor VII Deficiency Completed NCT01779921
12 Observational Study on Safety and Efficacy of NovoSeven® in Subjects With Congenital FVII Deficiency Completed NCT01312636
13 Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in Germany Completed NCT00697320
14 Effect of Extra Virgin Olive Oil on Atherosclerosis Biomarkers in HIV-infected Patients Completed NCT00925795
15 Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation Capacity Completed NCT02911233
16 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
17 Global Haemostatic Methods Following Administration of Bypassing Agents to Patients With Haemophilia With Inhibitors Recruiting NCT02453542
18 An Observational Cohort Study to Investigate the Risk of Thromboembolic Events in Patients Receiving Kcentra® or Plasma to Reverse Vitamin K Antagonist (VKA) Therapy in the Setting of Acute Major Bleeding Recruiting NCT02319460
19 Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa Terminated NCT00478244

Search NIH Clinical Center for Factor Vii Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: factor vii deficiency

Genetic Tests for Factor Vii Deficiency

Genetic tests related to Factor Vii Deficiency:

id Genetic test Affiliating Genes
1 Factor Vii Deficiency 29 24 F7

Anatomical Context for Factor Vii Deficiency

MalaCards organs/tissues related to Factor Vii Deficiency:

39
Liver, Heart, Testes, Breast, Bone, Myeloid, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Factor Vii Deficiency:
id 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 383)
id Title Authors Year
1
HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY A F7 MISSENSE MUTATION. ( 28118558 )
2017
2
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. ( 28447100 )
2017
3
Management of concomitant factor VII deficiency and Factor V Leiden mutation. ( 28111927 )
2017
4
Thrombosis in a bleeding disorder: case of thromboembolism in factor VII deficiency. ( 28265390 )
2017
5
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. ( 28350321 )
2017
6
Pulmonary embolism in a patient with mild factor VII deficiency after administration of recombinant activated factor VII during a urological procedure. ( 28452972 )
2017
7
Factor VII deficiency diagnosed after minor genital trauma. ( 28111834 )
2017
8
Congenital factor VII deficiency: Multidisciplinary approach is the key to successful perioperative outcome. ( 28405048 )
2017
9
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. ( 28018685 )
2016
10
Factor VII Deficiency: From Basics to Clinical Laboratory Diagnosis and Patient Management. ( 27701084 )
2016
11
Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment. ( 28038846 )
2016
12
Acquired factor VII deficiency following FOLFOX in a patient with colorectal cancer who was also DPD deficient. ( 26770273 )
2016
13
Prophylactic treatment of hereditary severe factor VII deficiency in pregnancy. ( 27306331 )
2016
14
Management of Labour and Delivery in a Patient With Acquired Factor VII Deficiency With Inhibitor: A Case Report. ( 27032741 )
2016
15
Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency. ( 27776919 )
2016
16
Anticoagulation Therapy Considerations in Factor VII Deficiency. ( 27747688 )
2016
17
Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies. ( 27338009 )
2016
18
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
19
Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. ( 26962982 )
2016
20
Lower extremity compartment syndrome in the setting of iliofemoral deep vein thrombosis, phlegmasia cerulea dolens and factor VII deficiency. ( 27113791 )
2016
21
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. ( 27513915 )
2016
22
Inhibitor development after liver transplantation in congenital factor VII deficiency. ( 27501477 )
2016
23
Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. ( 26852649 )
2016
24
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
25
Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s. ( 26761581 )
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
A novel gene insertion combined with a missense mutation causing factor VII deficiency in two unrelated Chinese families. ( 26083983 )
2015
28
Long-term prophylaxis in severe factor VII deficiency. ( 25952977 )
2015
29
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. ( 26012727 )
2015
30
Japanese family with congenital factor VII deficiency. ( 26310716 )
2015
31
Prevention of bleeding and hemorrhagic complications in surgical patients with inherited factor VII deficiency. ( 25688458 )
2015
32
Isolated acquired factor VII deficiency: review of the literature. ( 26400474 )
2015
33
Factor VII deficiency presenting as a possible child abuse. ( 25796593 )
2015
34
First living-related liver transplant to cure factor VII deficiency. ( 26152797 )
2015
35
Use of recombinant factor VII for tooth extractions in a patient with severe congenital factor VII deficiency: A case report. ( 25819659 )
2015
36
A rare combination: congenital factor VII deficiency with Chiari malformation. ( 26248161 )
2015
37
Phenotypic and genotypic characterization of four factor VII deficiency patients from central China. ( 25767893 )
2015
38
Prothrombin complex concentrate for factor VII replacement in a patient undergoing left ventricular assist device implantation with factor VII deficiency. ( 26010391 )
2015
39
Anaesthetic management of a parturient with factor VII deficiency and sepsis. ( 26303752 )
2015
40
Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery. ( 26249164 )
2015
41
Hemipelvectomy after severe pelvic injury in Factor VII deficiency toddler. ( 25733368 )
2014
42
Successful use of rFVIIa for major breast surgery prophylaxis in congenital factor VII deficiency: a case report. ( 25204840 )
2014
43
Acquired factor VII deficiency associated with acute myeloid leukemia. ( 24991944 )
2014
44
A Comparison Between Recombinant Activated Factor VII (Aryoseven) and Novoseven in Patients With Congenital Factor VII Deficiency. ( 24651301 )
2014
45
Mitral valve surgery in severe congenital factor VII deficiency. ( 23621922 )
2014
46
Repeated recombinant activated factor VII administration in a patient with congenital factor VII deficiency undergoing modified radical hysterectomy: a case report. ( 24261688 )
2014
47
Inhibitors to factor VII in congenital factor VII deficiency. ( 24533960 )
2014
48
Successful management of maternal factor VII deficiency in a cesarean section. ( 25105106 )
2014
49
Surgical Aortic Valve Replacement in an Adult Patient With Congenital Factor VII Deficiency: A Case Report of Perioperative Coagulation Management. ( 25534563 )
2014
50
Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis. ( 25179859 )
2014

Variations for Factor Vii Deficiency

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

66 (show top 50) (show all 108)
id 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
50 F7 p.Asp403His VAR_015144

ClinVar genetic disease variations for Factor Vii Deficiency:

6 (show all 23)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 EGF F2 F3 F7 F8 F9
2
Show member pathways
12.38 F2 F3 F7 F8 F9
3
Show member pathways
11.58 F2 F7 F9
4
Show member pathways
11.56 F2 F3 F7 F8 F9
5 11.16 F2 F3 F7 F8 F9
6 11.05 F2 HNF4A
7 10.51 F2 F7 F9

GO Terms for Factor Vii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 EGF F2 F3 F7 F8 F9
2 endoplasmic reticulum lumen GO:0005788 9.46 F2 F7 F8 F9
3 Golgi lumen GO:0005796 9.43 F2 F7 F9
4 extracellular space GO:0005615 9.43 EGF F2 F3 F7 F8 F9
5 platelet alpha granule lumen GO:0031093 9.37 EGF F8
6 serine-type peptidase complex GO:1905286 8.62 F3 F7

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 F2 F7 F8 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F2 F7 F8 F9
3 signal peptide processing GO:0006465 9.54 F2 F7 F9
4 protein processing GO:0016485 9.52 F3 F7
5 acute-phase response GO:0006953 9.51 F2 F8
6 blood coagulation, intrinsic pathway GO:0007597 9.5 F2 F8 F9
7 positive regulation of blood coagulation GO:0030194 9.48 F2 F7
8 positive regulation of positive chemotaxis GO:0050927 9.46 F3 F7
9 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F3 F7
10 peptidyl-glutamic acid carboxylation GO:0017187 9.43 F2 F7 F9
11 blood coagulation GO:0007596 9.43 F2 F3 F7 F8 F9 HNF4A
12 blood coagulation, extrinsic pathway GO:0007598 9.33 F3 F7 F9
13 hemostasis GO:0007599 9.02 F2 F3 F7 F8 F9

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 EGF F2 F7 F9
2 serine-type peptidase activity GO:0008236 9.13 F2 F7 F9
3 serine-type endopeptidase activity GO:0004252 9.02 F2 F3 F7 F8 F9

Sources for Factor Vii Deficiency

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