FA7D
MCID: FCT007
MIFTS: 64

Factor Vii Deficiency (FA7D)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor Vii Deficiency

MalaCards integrated aliases for Factor Vii Deficiency:

Name: Factor Vii Deficiency 57 12 73 20 43 72 36 29 13 54 6 44 15 70
Hypoproconvertinemia 57 20 43 58 72
F7 Deficiency 57 20 43 72
Congenital Proconvertin Deficiency 20 58 72
Factor 7 Deficiency 20 72
Serum Prothrombin Conversion Accelerator Deficiency 43
Prothrombin Conversion Accelerator Deficiency 43
Congenital Factor Vii Deficiency 58
Proconvertin Deficiency 43
Deficiency, Factor Vii 39
Deficiency, Stable 12
Stable Disease 54
Fa7d 72

Characteristics:

Orphanet epidemiological data:

58
congenital factor vii deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2215
OMIM® 57 227500
KEGG 36 H02256
MeSH 44 D005168
NCIt 50 C131631
SNOMED-CT 67 154820003
ICD10 32 D68.2
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0015503
Orphanet 58 ORPHA327
MedGen 41 C0015503
UMLS 70 C0015503

Summaries for Factor Vii Deficiency

GARD : 20 Factor VII deficiency is a rare bleeding disorder. The age of onset and severity varies from person to person. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleeding after injury or surgery; and heavy or prolonged menstrual bleeding in women. Some people with factor VII deficiency may have bleeding in the joints or blood in the urine. In very severe cases, factor VII deficiency can be life-threatening, causing bleeding inside the skull or digestive tract. Factor VII deficiency may be inherited or acquired. The inherited from is caused by mutations in the F7 gene and inheritance is autosomal recessive. The acquired form is not inherited and may be caused by liver disease, blood cell disorders, certain drugs, or vitamin K deficiency. Treatment for bleeding may include intravenous infusions of normal plasma, concentrated factor VII, or genetically-made (recombinant) factor VII. Those with acquired factor VII deficiency due to vitamin K deficiency may take vitamin K by mouth, injection, or infusion.

MalaCards based summary : Factor Vii Deficiency, also known as hypoproconvertinemia, is related to acquired hemophilia a and hemophilia, and has symptoms including epistaxis An important gene associated with Factor Vii Deficiency is F7 (Coagulation Factor VII), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs ofatumumab and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include Liver, t cells and prostate, and related phenotypes are gastrointestinal hemorrhage and intracranial hemorrhage

Disease Ontology : 12 A blood coagulation disease that is characterized by easy bleeding, has symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has material basis in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.

MedlinePlus Genetics : 43 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).

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown.

UniProtKB/Swiss-Prot : 72 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 : 73 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 369)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 32.3 F9 F8 F3
2 hemophilia 30.9 F9 F8 F7
3 hemophilia a 30.4 F9 F8 F7 F3
4 active peptic ulcer disease 30.2 F7 F3 F2
5 homocystinuria 30.2 SERPINC1 F8 EGF
6 epidural abscess 30.1 F3 F2
7 thrombasthenia 29.9 F3 F2 EGF
8 factor x deficiency 29.9 F9 F7 F3 F2 F10
9 von willebrand's disease 29.8 F9 F8 F7 F3 F2
10 hepatic veno-occlusive disease 29.8 SERPINC1 F8 F3
11 hemarthrosis 29.8 F9 F8 F7 F3 F2 F10
12 purpura fulminans 29.8 SERPINC1 F3 F2
13 purpura 29.8 SERPINC1 F3 F2
14 protein c deficiency 29.7 SERPINC1 F9 F2
15 vitamin k deficiency bleeding 29.7 SERPINC1 F9 F8 F7 F3 F2
16 cholecystitis 29.7 F2 EGFR EGF
17 atrial heart septal defect 29.7 SERPINC1 F3 F2
18 disseminated intravascular coagulation 29.6 SERPINC1 F9 F7 F3 F2 F10
19 antiphospholipid syndrome 29.6 SERPINC1 F3 F2 F10
20 thrombosis 29.5 SERPINC1 F9 F8 F7 F3 F2
21 thrombophlebitis 29.5 SERPINC1 F8 F7 F3 F2
22 pulmonary embolism 29.5 SERPINC1 F9 F8 F3 F2 F10
23 cardiac tamponade 29.5 F9 F8 F7 F3 F2
24 factor viii deficiency 29.4 SERPINC1 F9 F8 F7 F3 F2
25 compartment syndrome 29.3 SERPINC1 F8 F7 F3 F2
26 stroke, ischemic 29.1 SERPINC1 F9 F7 F3 F2 F10
27 afibrinogenemia, congenital 29.1 SERPINC1 F8 F7 F3 F2 F10
28 factor xi deficiency 29.1 SERPINC1 F9 F8 F7 F3 F2
29 liver cirrhosis 28.9 SERPINC1 IL2 IFNA2 F3 F2
30 nephrotic syndrome 28.8 SERPINC1 IL2 F9 F3 F2
31 kidney cancer 28.6 IL2 IFNA2 EGFR EGF
32 hemorrhagic disease 28.5 SERPINC1 IL2 F9 F8 F7 F3
33 hemophilia b 28.4 SERPINC1 HNF4A GFM1 F9 F8 F7
34 thrombocytopenia 27.7 SERPINC1 IL2 IFNA2 F9 F8 F7
35 focal segmental glomerulosclerosis 10 10.9
36 rare hemorrhagic disorder 10.5
37 autosomal recessive disease 10.4
38 arthropathy 10.3
39 fainting 10.3 HNF4A F8
40 achenbach syndrome 10.2 F3 F2
41 renal pelvis squamous cell carcinoma 10.2 F3 F2
42 papillary adenofibroma 10.2 F3 F2
43 femoral neuropathy 10.2 F3 F2
44 emphysematous cholecystitis 10.2 F3 F2
45 hemopneumothorax 10.2 F3 F2
46 cerebral falx meningioma 10.2 F3 F2
47 ankylosing spondylitis 1 10.2 F3 F2
48 pulmonary embolism and infarction 10.2 F3 F2
49 acute pulmonary heart disease 10.2 F3 F2
50 lemierre's syndrome 10.2 F3 F2

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



Diseases related to Factor Vii Deficiency

Symptoms & Phenotypes for Factor Vii Deficiency

Human phenotypes related to Factor Vii Deficiency:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
2 intracranial hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002170
3 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
4 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
5 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
6 prolonged prothrombin time 58 31 frequent (33%) Frequent (79-30%) HP:0008151
7 menorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0000132
8 joint hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0005261
9 prolonged bleeding after surgery 58 31 frequent (33%) Frequent (79-30%) HP:0004846
10 ovarian cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000138
11 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
12 abnormality of the umbilical cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0010881
13 abnormal bleeding 31 HP:0001892
14 intramuscular hematoma 31 HP:0012233
15 reduced factor vii activity 31 HP:0008169

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Symptoms:

12
  • epistaxis

MGI Mouse Phenotypes related to Factor Vii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 EGFR F10 F2 F3 F7 F9
2 homeostasis/metabolism MP:0005376 9.9 EGFR F10 F2 F3 F7 F8
3 immune system MP:0005387 9.61 EGF EGFR F2 F3 F8 F9
4 mortality/aging MP:0010768 9.36 EGFR F10 F2 F3 F7 F8

Drugs & Therapeutics for Factor Vii Deficiency

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

(show top 50) (show all 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
ofatumumab Approved Phase 4 679818-59-8 6918251
2
Etoposide Approved Phase 4 33419-42-0 36462
3 Etoposide phosphate Phase 4
4
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
9
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
10
Ifosfamide Approved Phase 3 3778-73-2 3690
11
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
14
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
15
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
16
Teniposide Approved Phase 3 29767-20-2 34698
17
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
18
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
19
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
20
Vindesine Approved, Investigational Phase 3 59917-39-4, 53643-48-4 40839
21
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
22
Olaparib Approved Phase 3 763113-22-0 23725625
23
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
24
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
25
Bevacizumab Approved, Investigational Phase 3 216974-75-3
26
Exemestane Approved, Investigational Phase 3 107868-30-4 60198
27
Oblimersen Experimental, Investigational Phase 3 190977-41-4
28
Saracatinib Investigational Phase 2, Phase 3 379231-04-6
29
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
30
Marimastat Investigational Phase 3 154039-60-8 119031
31 Pharmaceutical Solutions Phase 3
32
Isophosphamide mustard Phase 3 100427
33
Liposomal doxorubicin Phase 3 31703
34 Methylprednisolone Acetate Phase 3
35 Interferon-alpha Phase 3
36 Interferon alpha-2 Phase 3
37 Poly(ADP-ribose) Polymerase Inhibitors Phase 3
38 Immunosuppressive Agents Phase 3
39 Immunologic Factors Phase 3
40 Antirheumatic Agents Phase 3
41 Alkylating Agents Phase 3
42 Vaccines Phase 3
43 Angiogenesis Inhibitors Phase 3
44 Tubulin Modulators Phase 3
45 Antimitotic Agents Phase 3
46 Antineoplastic Agents, Immunological Phase 3
47 Hormone Antagonists Phase 3
48 Hormones Phase 3
49 Albumin-Bound Paclitaxel Phase 3
50 Estrogen Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 188)
# Name Status NCT ID Phase Drugs
1 A Single-arm, International, Multi-center Trial Investigating the Efficacy and Safety of Ofatumumab Retreatment and Maintenance in CLL Patients Who Progressed Following Response or Stable Disease After Ofatumumab Treatment in Hx-CD20-406 Completed NCT00802737 Phase 4 Ofatumumab
2 Single-Arm Study to Carbo-paclitaxel/ Nab-paclitaxel Combined With Pembrolizumab as the First Line Therapy in Treating Patients With Locally Advanced or Metastatic Invasive Thymoma and Thymic Carcinoma That Cannot Be Removed by Surgery Recruiting NCT04554524 Phase 4 Chemotherapy+Pembrolizumab.
3 A Clinical Trial of Chidamide Combined With Etoposide in Relapsed or Refractory NK/T-cell Lymphoma Recruiting NCT04490590 Phase 4 Chidamide+ Etoposide
4 A Phase 4, Open-label, Single-Arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Systemic Anaplastic Large Cell Lymphoma Active, not recruiting NCT01909934 Phase 4 brentuximab vedotin
5 Randomized, Multicenter, Single-dose, Cross-over, Double-blind Study Comparing the Pharmacokinetic of Biosimilar Eptacog Alfa With Novoseven®, in Patients With Congenital Factor VII Deficiency Completed NCT03079063 Phase 3
6 A Multicenter, Randomized, Double-blind Study of Dacarbazine With or Without Genasense in Chemotherapy-naive Subjects With Advanced Melanoma and Low LDH (The AGENDA Trial) Completed NCT00518895 Phase 3 dacarbazine plus Genasense;dacarbazine plus placebo
7 A Randomised Placebo-controlled Trial of Saracatinib (AZD0530) Plus Weekly Paclitaxel in Platinum Resistant Ovarian, Fallopian Tube or Primary Peritoneal Cancer Completed NCT01196741 Phase 2, Phase 3 Paclitaxel;Saracatinib;Matched placebo
8 A Randomized Phase III Trial of Gemcitabine and Docetaxel Versus Gemcitabine and Paclitaxel in Patients With Metastatic Breast Cancer: A Comparison of Different Schedules Completed NCT00236899 Phase 3 Gemcitabine;Docetaxel;Paclitaxel
9 A Phase 2/3, Multicenter, Randomized, Open-label Study to Compare the Efficacy and Safety of Lenalidomide (Revlimid ®) Versus Investigator's Choice in Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma Completed NCT01197560 Phase 2, Phase 3 Lenalidomide;Gemcitabine;Oxaliplatin;Rituximab;Etoposide
10 Randomized Phase III Trial Comparing Induction Chemotherapy Followed by Radiotherapy to Concomitant Chemoradiotherapy for Laryngeal Preservation in T3MO Pyriform Sinus Carcinoma Completed NCT00770393 Phase 2, Phase 3
11 An Open Label, Multicenter Study Investigating the Safety and Efficacy of Ofatumumab Therapy Versus Physicians' Choice in Patients With Bulky Fludarabine-Refractory Chronic Lymphocytic Leukaemia (CLL) Completed NCT01313689 Phase 3 Ofatumumab;Physicians' Choice
12 Randomized Phase III Study Comparison Between Conventional Chemotherapy and High-Dose Therapy Followed by Autologous Purged Stem-Cell Transplantation in Patients With Follicular Lymphoma Stage III,IV First-Line Treatment for Patients Younger Than 60 Years Old With a High Tumor Burden Completed NCT00696735 Phase 3
13 A Randomized Phase III Trial of Marimastat Versus Placebo in Patients With Metastatic Breast Cancer Who Have Responding or Stable Disease After Induction Chemotherapy Completed NCT00003010 Phase 3 marimastat
14 Phase III Study of Lucanix™ (Belagenpumatucel-L) in Advanced Non-small Cell Lung Cancer: An International Multicenter, Randomized, Double-blinded, Placebo-controlled Study of Lucanix™ Maintenance Therapy for Stages III/IV NSCLC Subjects Who Have Responded to or Have Stable Disease Following One Regimen of Front-line, Platinum-based Combination Chemotherapy Completed NCT00676507 Phase 3
15 A Phase III, Randomised, Double Blind, Placebo Controlled, Multicentre Study of Olaparib Maintenance Monotherapy in Patients With BRCA Mutated Advanced (FIGO Stage III-IV) Ovarian Cancer Following First Line Platinum Based Chemotherapy. Active, not recruiting NCT01844986 Phase 3 Olaparib 300mg tablets
16 Phase III Randomized Multicenter Trial Comparing Continued Maintenance Therapy With the Bevacizumab + Taxane Versus Bevacizumab + Substituting Exemestane in Patients With Metastatic Breast Cancer or Locally Advanced With Estrogen Receptor Positive and Having at Least a Stable Disease After 16 to 18 Weeks of Treatment With Bevacizumab + Taxane. Terminated NCT01303679 Phase 3 Paclitaxel;Bevacizumab;Exemestane
17 A Multi-national, Double-blind, Placebo-controlled, Randomized, Phase III Clinical Trial of the Cancer Vaccine Stimuvax® (L-BLP25 or BLP25 Liposome Vaccine) in Asian Subjects With Stage III, Unresectable, Non-small Cell Lung Cancer (NSCLC) Who Have Demonstrated Either Stable Disease or Objective Response Following Primary Chemo-radiotherapy Terminated NCT01015443 Phase 3 Single low dose cyclophosphamide;Placebo
18 Open Label Trial to Study the Efficacy and Safety of MK-5172 and MK-8742 +/- Ribavirin (RBV) in the Treatment of Hepatitis C G1 and 4, in Patients Eligible for Liver Transplant (HCC) or Curative Therapy or Clinically Stable Disease Post Local Resection, Embolization or Ablative Therapy Withdrawn NCT04546802 Phase 3 Elbasvir / Grazoprevir Oral Tablet
19 Phase II Trial of Low Dose Lenalidomide and Dexamethasone in Relapsed or Refractory Multiple Myeloma (Rev-Lite) in Patients at High Risk for Myelosuppression Unknown status NCT00482261 Phase 2 Lenalidomide;dexamethasone;aspirin
20 "Phase II Study of PET Guided Neoadjuvant Chemotherapy (NAC) and Oncotype Guided Hormonal Therapy of Breast Cancer" Unknown status NCT01641406 Phase 2 Docetaxel, Epirubicin, Cyclophosphamide/Navelbine, Capecitabine, Trastuzumab, Bevacizumab;Docetaxel, Epirubicin, Cyclophosphamide/Navelbine, Capecitabine, Trastuzumab, Bevacizumab;Docetaxel, Epirubicin, Cyclophosphamide/Navelbine, Capecitabine, Trastuzumab, Bevacizumab
21 Phase Ib/II Study of the Tumour-targeting Human F16IL2 Monoclonal Antibody-cytokine Fusion Protein in Combination With Paclitaxel in Patients With Advanced Solid Tumours Unknown status NCT01134250 Phase 1, Phase 2 F16IL2 in combination with paclitaxel
22 Phase II Study of Paclitaxel Liposome Plus S-1 as Neoadjuvant Chemotherapy for Advanced Gastric Cancer Unknown status NCT02163291 Phase 2 paclitaxel liposome
23 Maintenance Treatment With Capecitabine Versus Observation After First Line Chemotherapy in Patients With Metastatic Colorectal Cancer: a Randomized Phase II Study Unknown status NCT02027363 Phase 2 Capecitabine
24 Phase 2 Study of AR-67 (DB-67) in Myelodysplastic Syndrome(MDS) Unknown status NCT00956787 Phase 2 AR-67 (20S)-7-t-Butyldimethylsilyl-10-hydroxycamptothecin)
25 Phase II Study of Vinorelbine for Children With Recurrent Anaplastic Large Cell Lymphoma Unknown status NCT03397953 Phase 2 Vinorelbine
26 Evaluation of Safety and Efficacy of VELCADE as Maintenance Treatment in Patients With Multiple Myeloma Following High-Dose Melphalan Treatment and Autologous PBSCT (Minimal Residual Disease, Partial Remission or Stable Disease) Unknown status NCT00311337 Phase 2 bortezomib
27 A Phase II Trial of Hypofractionated Radiotherapy Combined With Thymosin for Metastatic NSCLC Patients Who Showed Stable Disease After First Line TKI Therapy Unknown status NCT02787447 Phase 2 TKI;Thymosin Alpha 1
28 Effectiveness and Safety of Adding Bevacizumab to Chemotherapy in Patients With Advanced Lung Adenocarcinoma With Stable Disease After 2 Cycles of First Line Combination Chemotherapy: a Multicenter, Prospective Cohort Study Unknown status NCT03240549 Phase 2 bevacizumab
29 High Dose Versus Routine Dose Icotinib in Pretreated Non-small Cell Lung Cancer Patients With Stable Disease: a Phase II Randomized Study Unknown status NCT02027090 Phase 2 Routine dose icotinib;Higher dose icotinib
30 An Open-label, Randomized, Multicenter, Phase II Trial to Evaluate the Safety and Efficacy of Dose Escalation of Icotinib in Advanced or Metastatic NSCLC Patients After 8 Weeks Routine Therapy Evaluated as Stable Disease Unknown status NCT01690390 Phase 2 Icotinib of routine dose;Icotinib of high dose
31 A Randomized Discontinuation Study of XL184 in Subjects With Advanced Solid Tumors Completed NCT00940225 Phase 2 XL184;Placebo;XL184;XL184
32 UARK 98-036, A Phase II Trial of Combination Bisphosphonate and Anti-Angiogenesis Therapy With Pamidronate and Thalidomide in Patients With Smoldering/Indolent Myeloma Completed NCT00083382 Phase 2 Pamidronate;Thalidomide;Zometa
33 A Phase II, Randomized, Placebo Controlled Study to Evaluate the Efficacy of the Combination of Gefitinib and Metformin in Patients With Locally Advanced and Metastatic Non-Small-Cell-Lung-Cancer Completed NCT01864681 Phase 2 Gefitinib and Metformin;Gefitinib and placebo
34 Phase II Study of a Novel Taxane (Cabazitaxel-XRP6258) in Previously Treated Advanced Non-Small Cell Lung Cancer (NSCLC) Patients Completed NCT01438307 Phase 2 Cabazitaxel-XRP6258 (3-week cycle);Cabazitaxel-XRP6258 (5-week cycle)
35 Phase II Trial of Adjuvant Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Vaccine (FANG™) Integrated With Chemotherapy for Patients With Recurrent Cisplatinum Sensitive Ovarian Cancer Participating in Study CL-PTL 105 Completed NCT01867086 Phase 2 Carboplatinum;Carboplatinum and Taxol
36 Double-Blind Randomized Phase II Trial of Carboplatin and Pemetrexed With or Without OGX-427 in Patients With Previously Untreated Stage IV Non-Squamous-Non-Small-Cell Lung Cancer (The Spruce Clinical Trial) Completed NCT01829113 Phase 2 OGX-427;Placebo
37 A Phase I/II Evaluation of Vaccination With Type 1 Dendritic Cells Pulsed With Multiple Peptides in the Treatment of HLA-A2 Positive Patients With Recurrent Malignant Gliomas Completed NCT00766753 Phase 1, Phase 2
38 Phase II Trial of Imatinib Mesylate Maintenance Therapy in Patients With C-Kit (+) Extensive-Stage Small Cell Lung Cancer Completed NCT00248482 Phase 2 Cisplatin;Gleevec™;irinotecan
39 Phase II Trial of 9-Aminocamptothecin (9-AC) Colloidal Dispersion (CD) 120-Hour Continuous Intravenous Infusion in Advanced Non-Small Cell Lung Cancer Completed NCT00003154 Phase 2 aminocamptothecin colloidal dispersion
40 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
41 Perioperative Imatinib Mesylate in Treating Patients With Locally Advanced Gastrointestinal Stromal Tumor Completed NCT01267695 Phase 2 imatinib mesylate
42 A Prospective Study of Anti-PD-1 Inhibitors Therapy in Combination With Incomplete Thermal Ablation in Patients With Advanced Hepatocellular Carcinoma Completed NCT03939975 Phase 2 pembrolizumab or nivolumab or JS001
43 Oral Combination Chemotherapy in the Treatment of AIDS-Associated Hodgkin's Disease Completed NCT00003114 Phase 2 cyclophosphamide;etoposide;lomustine;procarbazine hydrochloride
44 An Open-Label Randomized Phase II Study of Cipterbin® or Cipterbin® in Combination With Vinorelbine in Patients With HER2/Neu-overexpressed Metastatic Breast Cancer (MBC) Completed NCT01439191 Phase 2 humanized anti-HER2 antibody;Vinorelbine
45 The Borealis-2 Clinical Trial: A Randomized Phase 2 Study Comparing Docetaxel Alone to Docetaxel in Combination With OGX-427 in Patients With Relapsed or Refractory Metastatic Urothelial Carcinoma After Receiving a Platinum-containing Regimen: Hoosier Cancer Research Network GU12-160 Completed NCT01780545 Phase 2 OGX-427;Docetaxel
46 Open-Label Extension Study of Anti-CCR4 Monoclonal Antibody KW-0761 as Monotherapy in Subjects Who Relapsed After Complete Response on Study KW-0761-001 Completed NCT01226472 Phase 2
47 A SINGLE-ARM, MULTICENTER, PHASE II STUDY OF PANITUMUMAB IN COMBINATION WITH CAPECITABINE / OXALIPLATIN IN FIRST-LINE, WILD-TYPE K-RAS METASTATIC COLORECTAL CANCER PATIENTS. Completed NCT01215539 Phase 2 panitumumab
48 Prospective Phase II Study of Gemcitabine Plus Platinum Salt in Combination With Bevacizumab (Avastin®) for Metastatic Collecting Duct Carcinoma Completed NCT02363751 Phase 2 Bevacizumab
49 A Non-randomized, Open Label, Multi-center Phase 2 Study Evaluating the Efficacy and Safety of STA-9090 in Patients With Metastatic and/or Unresectable GIST Resistant or Refractory to Prior Systemic Treatments Including Imatinib and Sunitinib Completed NCT01039519 Phase 2 Ganetespib
50 A Phase 1/2, Multi-Center, Blinded, Randomized, Controlled Study of the Safety and Efficacy of the Human Monoclonal Antibody to Human α ν Integrins (CNTO 95), Alone and in Combination With Dacarbazine, in Subjects With Stage IV Melanoma Completed NCT00246012 Phase 1, Phase 2 Intetumumab;Dacarbazine;Placebo

Search NIH Clinical Center for Factor Vii Deficiency

Inferred drug relations via UMLS 70 / NDF-RT 51 :


antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
ANTIHEMOPHILIC FACTOR,HUMAN,METHOD M,MONOCLONAL
Factor VIII
nonacog alfa
recombinant FVIIa

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 29 F7

Anatomical Context for Factor Vii Deficiency

MalaCards organs/tissues related to Factor Vii Deficiency:

40
T Cells, Prostate, Breast, Liver, Lung, Pancreas, Heart
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 943)
# Title Authors PMID Year
1
Severe 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). 6 61 57
11529858 2001
2
Factor VII deficiency and the FVII mutation database. 57 6 61
11139238 2001
3
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. 61 57 6
11091194 2000
4
Twenty two novel mutations of the factor VII gene in factor VII deficiency. 61 6 57
10862079 2000
5
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. 57 61 6
8883260 1996
6
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. 61 6 57
8652821 1996
7
Molecular analysis of Polish patients with factor VII deficiency. 57 6 61
7919338 1994
8
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). 57 6 61
1634227 1992
9
A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency. 57 6
14717781 2004
10
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro). 6 57
7981691 1994
11
Asymptomatic factor VII deficiency: gene analysis and structure-function relationships. 61 6 54
20040857 2010
12
[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp]. 6 54 61
12903033 2003
13
A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. 61 54 6
11110717 2000
14
Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. 54 57 61
9680360 1998
15
Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain. 6 54 61
9414278 1998
16
Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. 61 6
26852649 2016
17
Long-term prophylaxis in severe factor VII deficiency. 61 6
25952977 2015
18
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. 61 6
22180436 2012
19
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes. 6 61
21902896 2011
20
Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India. 61 6
19751712 2009
21
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. 61 6
18976247 2009
22
The paradoxical association between inherited factor VII deficiency and venous thrombosis. 61 6
18282149 2008
23
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. 6 61
15735798 2005
24
Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. 61 6
15456489 2004
25
Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications. 6 61
12935978 2003
26
Factor VII Deficiency. 61 57
12181036 2002
27
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. 61 57
11313743 2001
28
Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. 57 61
11225604 2001
29
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. 61 57
11129332 2000
30
Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene. 61 6
9716592 1998
31
Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter. 6 61
9716591 1998
32
Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. 61 6
9576180 1998
33
Inherited factor VII deficiency: molecular genetics and pathophysiology. 57 61
9198146 1997
34
Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. 6 61
8978290 1997
35
Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity. 6 61
8940045 1996
36
Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain. 61 6
7974346 1994
37
Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. 61 57
4063521 1985
38
Hereditary factor VII deficiency in a Chinese family. 61 57
6836231 1983
39
Studies on a family with the factor VII defect. 61 57
6821712 1983
40
Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. 57 61
7248191 1981
41
Factor VII deficiency. 61 57
7258184 1981
42
Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern. 61 57
444674 1979
43
Congenital factor VII deficiency. A report of four new cases. 61 57
760871 1979
44
Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency. 57 61
901936 1977
45
Hereditary factor-VII deficiency in the beagle. 61 57
5045961 1972
46
CLINICAL ASPECTS OF CONGENITAL FACTOR VII DEFICIENCY. 61 57
14206752 1964
47
Congenital factor VII deficiency with normal Stuart activity: clinical, genetic and experimental observations. 61 57
14412828 1960
48
[Congenital factor VII deficiency; family investigation and physiological studies on factor VII]. 57 61
13574693 1958
49
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
50
The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort. 6
25828579 2015

Variations for Factor Vii Deficiency

ClinVar genetic disease variations for Factor Vii Deficiency:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F7 C310F SNV Pathogenic 12068 GRCh37:
GRCh38:
2 F7 C178Y SNV Pathogenic 12069 GRCh37:
GRCh38:
3 F7 F7, ARG247HIS SNV Pathogenic 12070 GRCh37:
GRCh38:
4 F7 F7, THR359MET Variation Pathogenic 12071 GRCh37:
GRCh38:
5 F7 A244V SNV Pathogenic 12072 GRCh37:
GRCh38:
6 F7 F7, ASN57ASP SNV Pathogenic 12073 GRCh37:
GRCh38:
7 F7 F7, IVS4DS, G-A, +1 SNV Pathogenic 12074 GRCh37:
GRCh38:
8 F7 NM_019616.4(F7):c.783_799del (p.Arg262fs) Deletion Pathogenic 12077 rs786205091 GRCh37: 13:113772770-113772786
GRCh38: 13:113118456-113118472
9 F7 F7, 1-BP DEL, 11128C Deletion Pathogenic 12078 GRCh37:
GRCh38:
10 F7 F7, -61T-G SNV Pathogenic 12081 GRCh37:
GRCh38:
11 F7 F7, -94C-G SNV Pathogenic 12082 GRCh37:
GRCh38:
12 F7 F7, -55C-T SNV Pathogenic 12083 GRCh37:
GRCh38:
13 F7 C61* Variation Pathogenic 12084 GRCh37:
GRCh38:
14 F7 NM_019616.4(F7):c.1099T>G (p.Cys367Gly) SNV Pathogenic 12085 rs121964934 GRCh37: 13:113773086-113773086
GRCh38: 13:113118772-113118772
15 F7 NM_019616.4(F7):c.562C>T (p.Gln188Ter) SNV Pathogenic 12086 rs267606790 GRCh37: 13:113771136-113771136
GRCh38: 13:113116822-113116822
16 F7 E25K Variation Pathogenic 12087 GRCh37:
GRCh38:
17 F7 NM_019616.4(F7):c.1158T>G (p.His386Gln) SNV Pathogenic 12088 rs121964936 GRCh37: 13:113773145-113773145
GRCh38: 13:113118831-113118831
18 F7 F7, GLY354CYS Variation Pathogenic 12089 GRCh37:
GRCh38:
19 F7 NM_019616.4(F7):c.917T>C (p.Phe306Ser) SNV Pathogenic 12090 rs387906508 GRCh37: 13:113772904-113772904
GRCh38: 13:113118590-113118590
20 F7 NM_019616.4(F7):c.413A>G (p.Gln138Arg) SNV Pathogenic 627178 rs200016360 GRCh37: 13:113770022-113770022
GRCh38: 13:113115708-113115708
21 F7 NM_019616.4(F7):c.1025G>A (p.Arg342Gln) SNV Pathogenic 420159 rs121964926 GRCh37: 13:113773012-113773012
GRCh38: 13:113118698-113118698
22 F7 NM_019616.4(F7):c.38T>C (p.Leu13Pro) SNV Pathogenic 12075 rs387906507 GRCh37: 13:113760193-113760193
GRCh38: 13:113105879-113105879
23 F7 NM_019616.4(F7):c.845C>T (p.Ala282Val) SNV Pathogenic/Likely pathogenic 627403 rs121964931 GRCh37: 13:113772832-113772832
GRCh38: 13:113118518-113118518
24 F7 NM_019616.4(F7):c.995C>T (p.Ala332Val) SNV Pathogenic/Likely pathogenic 12076 rs36209567 GRCh37: 13:113772982-113772982
GRCh38: 13:113118668-113118668
25 F7 NM_019616.4(F7):c.-30A>C SNV Likely pathogenic 626922 rs539578931 GRCh37: 13:113760126-113760126
GRCh38: 13:113105812-113105812
26 F7 NM_019616.4(F7):c.656C>A (p.Thr219Asn) SNV Likely pathogenic 626937 rs1160146175 GRCh37: 13:113771827-113771827
GRCh38: 13:113117513-113117513
27 F7 NM_000131.4(F7):c.-55C>T SNV Likely pathogenic 626945 rs1418012389 GRCh37: 13:113760101-113760101
GRCh38: 13:113105787-113105787
28 F7 NM_000131.4(F7):c.-61T>G SNV Likely pathogenic 626946 rs1367115848 GRCh37: 13:113760095-113760095
GRCh38: 13:113105781-113105781
29 F7 NM_019616.4(F7):c.1048C>T (p.Gln350Ter) SNV Likely pathogenic 626975 rs1595080617 GRCh37: 13:113773035-113773035
GRCh38: 13:113118721-113118721
30 F7 NM_019616.4(F7):c.443G>A (p.Arg148His) SNV Likely pathogenic 627084 rs375134790 GRCh37: 13:113770052-113770052
GRCh38: 13:113115738-113115738
31 F7 NM_000131.4(F7):c.681+1G>T SNV Likely pathogenic 627119 rs769452933 GRCh37: 13:113771190-113771190
GRCh38: 13:113116876-113116876
32 F7 NM_000131.4(F7):c.805+5G>A SNV Likely pathogenic 627144 rs746625213 GRCh37: 13:113771915-113771915
GRCh38: 13:113117601-113117601
33 F7 NM_019616.4(F7):c.1325del (p.Pro442fs) Deletion Likely pathogenic 626999 rs750457207 GRCh37: 13:113773309-113773309
GRCh38: 13:113118995-113118995
34 F7 NM_019616.4(F7):c.961G>A (p.Gly321Ser) SNV Likely pathogenic 627193 rs1250853566 GRCh37: 13:113772948-113772948
GRCh38: 13:113118634-113118634
35 F7 NM_000131.4(F7):c.805+3_805+6del Microsatellite Likely pathogenic 632209 rs754785708 GRCh37: 13:113771908-113771911
GRCh38: 13:113117594-113117597
36 F7 NM_019616.4(F7):c.1219G>A (p.Ala407Thr) SNV Likely pathogenic 374352 rs755377592 GRCh37: 13:113773206-113773206
GRCh38: 13:113118892-113118892
37 F7 NM_019616.4(F7):c.1043G>T (p.Cys348Phe) SNV Likely pathogenic 265135 rs121964927 GRCh37: 13:113773030-113773030
GRCh38: 13:113118716-113118716
38 F7 NM_000131.4(F7):c.430+1G>A SNV Likely pathogenic 627309 rs1056071555 GRCh37: 13:113768275-113768275
GRCh38: 13:113113961-113113961
39 F7 NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) Deletion Likely pathogenic 627392 rs757743255 GRCh37: 13:113772727-113772741
GRCh38: 13:113118413-113118427
40 F7 NM_019616.4(F7):c.1085C>T (p.Thr362Met) SNV Likely pathogenic 420160 rs531225271 GRCh37: 13:113773072-113773072
GRCh38: 13:113118758-113118758
41 F7 NM_019616.4(F7):c.152T>A (p.Leu51Gln) SNV Likely pathogenic 627276 rs45572939 GRCh37: 13:113765091-113765091
GRCh38: 13:113110777-113110777
42 F7 NM_000131.4(F7):c.805+7_805+43del Deletion Uncertain significance 627387 rs1309684522 GRCh37: 13:113771900-113771936
GRCh38: 13:113117586-113117622
43 F7 NM_019616.4(F7):c.481G>A (p.Asp161Asn) SNV Uncertain significance 883753 GRCh37: 13:113770090-113770090
GRCh38: 13:113115776-113115776
44 F7 NM_019616.4(F7):c.*498C>T SNV Uncertain significance 883802 GRCh37: 13:113773820-113773820
GRCh38: 13:113119506-113119506
45 F7 NM_019616.4(F7):c.*1281G>A SNV Uncertain significance 883860 GRCh37: 13:113774603-113774603
GRCh38: 13:113120289-113120289
46 F7 NM_019616.4(F7):c.*1359G>A SNV Uncertain significance 883861 GRCh37: 13:113774681-113774681
GRCh38: 13:113120367-113120367
47 F7 NM_019616.4(F7):c.*1364G>A SNV Uncertain significance 883862 GRCh37: 13:113774686-113774686
GRCh38: 13:113120372-113120372
48 F7 NM_019616.4(F7):c.*1383C>T SNV Uncertain significance 883863 GRCh37: 13:113774705-113774705
GRCh38: 13:113120391-113120391
49 F7 NM_019616.4(F7):c.*1385T>C SNV Uncertain significance 883864 GRCh37: 13:113774707-113774707
GRCh38: 13:113120393-113120393
50 F7 NM_019616.4(F7):c.*679A>C SNV Uncertain significance 881915 GRCh37: 13:113774001-113774001
GRCh38: 13:113119687-113119687

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

72 (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 rs123475902
8 F7 p.Lys197Glu VAR_006504 rs125020426
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 rs928183869
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 rs116014617
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 rs143850383
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

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 KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SERPINC1 IL2 IFNA2 F9 F8 F7
2
Show member pathways
12.6 SERPINC1 F9 F8 F7 F3 F2
3 12.56 IL2 IFNA2 F2 EGFR EGF
4
Show member pathways
12.18 IL2 IFNA2 EGFR EGF
5
Show member pathways
11.7 F9 F7 F2 F10
6
Show member pathways
11.7 SERPINC1 F9 F8 F7 F3 F2
7 11.45 IL2 EGFR EGF
8 11.33 SERPINC1 F9 F8 F7 F3 F2
9
Show member pathways
10.94 EGFR EGF
10 10.91 EGFR EGF
11 10.73 F9 F7 F2 F10
12 10.64 EGFR EGF
13
Show member pathways
10.01 EGFR EGF

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 collagen-containing extracellular matrix GO:0062023 9.73 SERPINC1 IFNA2 F9 F7 F3 F2
2 extracellular region GO:0005576 9.7 SERPINC1 IL2 IFNA2 F9 F8 F7
3 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 F9 F8 F7 F2 F10
4 Golgi lumen GO:0005796 9.62 F9 F7 F2 F10
5 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
6 serine-type peptidase complex GO:1905286 9.37 F7 F3
7 extracellular space GO:0005615 9.36 SERPINC1 IL2 IFNA2 F9 F8 F7

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.8 F7 F3 F10 EGFR EGF
2 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F9 F8 F7 F2 F10
3 positive regulation of cell growth GO:0030307 9.67 IL2 F2 EGFR
4 positive regulation of protein kinase B signaling GO:0051897 9.65 F7 F3 F10 EGFR EGF
5 positive regulation of phosphorylation GO:0042327 9.61 IFNA2 EGFR EGF
6 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.55 EGFR EGF
7 positive regulation of blood coagulation GO:0030194 9.54 F7 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.54 F9 F8 F2
9 regulation of blood coagulation GO:0030193 9.52 SERPINC1 F2
10 positive regulation of positive chemotaxis GO:0050927 9.51 F7 F3
11 hemostasis GO:0007599 9.5 SERPINC1 F9 F8 F7 F3 F2
12 negative regulation of ERBB signaling pathway GO:1901185 9.48 EGFR EGF
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F7 F3
14 blood coagulation, extrinsic pathway GO:0007598 9.33 F7 F3 F10
15 blood coagulation GO:0007596 9.28 SERPINC1 IFNA2 HNF4A F9 F8 F7

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.56 HNF4A F7 F2 EGFR
2 calcium ion binding GO:0005509 9.55 F9 F7 F2 F10 EGF
3 growth factor activity GO:0008083 9.5 IL2 F2 EGF
4 serine-type peptidase activity GO:0008236 9.26 F9 F7 F2 F10
5 serine-type endopeptidase activity GO:0004252 9.02 F9 F7 F3 F2 F10

Sources for Factor Vii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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