FA7D
MCID: FCT007
MIFTS: 66

Factor Vii Deficiency (FA7D)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Factor Vii Deficiency

MalaCards integrated aliases for Factor Vii Deficiency:

Name: Factor Vii Deficiency 56 12 74 52 25 73 36 29 13 54 6 43 15 71
Hypoproconvertinemia 56 52 25 58 73
F7 Deficiency 56 52 25 73
Congenital Proconvertin Deficiency 52 58 73
Factor 7 Deficiency 52 73
Serum Prothrombin Conversion Accelerator Deficiency 25
Prothrombin Conversion Accelerator Deficiency 25
Congenital Factor Vii Deficiency 58
Proconvertin Deficiency 25
Deficiency, Factor Vii 39
Deficiency, Stable 12
Stable Disease 54
Fa7d 73

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:

56
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 56 227500
KEGG 36 H02256
MeSH 43 D005168
NCIt 49 C131631
SNOMED-CT 67 37193007
ICD10 32 D68.2
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C0015503
Orphanet 58 ORPHA327
MedGen 41 C0015503
UMLS 71 C0015503

Summaries for Factor Vii Deficiency

NIH Rare Diseases : 52 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 Tegafur and ofatumumab have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and breast, and related phenotypes are gastrointestinal hemorrhage and intracranial hemorrhage

Disease Ontology : 12 An inherited 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.

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).

OMIM : 56 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)

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 : 73 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 : 74 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 358)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 32.6 F9 F8 F3
2 hemophilia 30.9 F9 F8 F7
3 hemophilia a 30.3 F9 F8 F7 F3
4 active peptic ulcer disease 30.1 F7 F3 F2
5 thrombasthenia 29.8 F3 F2 EGF
6 von willebrand's disease 29.8 F9 F8 F3 F2
7 coronary thrombosis 29.7 SERPINC1 F7 F3
8 factor x deficiency 29.6 F9 F7 F3 F2 F10
9 hepatic veno-occlusive disease 29.5 SERPINC1 F8 F3
10 factor viii deficiency 29.5 F9 F8 F7 F3 F2 F10
11 purpura fulminans 29.4 SERPINC1 F3 F2
12 purpura 29.4 SERPINC1 F3 F2
13 protein c deficiency 29.4 SERPINC1 F9 F2
14 hemarthrosis 29.4 F9 F8 F7 F3 F2 F10
15 atrial heart septal defect 29.3 SERPINC1 F3 F2
16 factor v deficiency 29.3 F9 F8 F7 F3 F2 F10
17 atrial fibrillation 29.3 SERPINC1 F3 F2 F10
18 liver cirrhosis 29.1 SERPINC1 GGT1 F3 F2
19 antiphospholipid syndrome 29.1 SERPINC1 F3 F2 F10
20 cardiac tamponade 29.1 F9 F8 F7 F3 F2
21 vitamin k deficiency bleeding 29.1 SERPINC1 F9 F8 F7 F3 F2
22 stroke, ischemic 29.1 SERPINC1 F7 F3 F2 F10
23 disseminated intravascular coagulation 29.0 SERPINC1 F9 F7 F3 F2 F10
24 compartment syndrome 29.0 SERPINC1 F8 F7 F3 F2
25 thrombophlebitis 29.0 SERPINC1 F8 F7 F3 F2
26 thrombophilia due to thrombin defect 29.0 SERPINC1 F8 F3 F2 F10
27 pulmonary embolism 28.9 SERPINC1 F9 F8 F3 F2 F10
28 thrombosis 28.9 SERPINC1 F9 F8 F7 F3 F2
29 takayasu arteritis 28.9 SERPINC1 IL2 F3 F2
30 protein s deficiency 28.7 SERPINC1 F8 F3 F2 F10
31 afibrinogenemia, congenital 28.7 SERPINC1 F8 F7 F3 F2 F10
32 hemorrhagic disease 28.6 SERPINC1 F9 F8 F7 F3 F2
33 factor xi deficiency 28.4 SERPINC1 F9 F8 F7 F3 F2
34 hemophilia b 27.4 SERPINC1 HNF4A GFM1 F9 F8 F7
35 thrombocytopenia 26.7 SERPINC1 IL2 IFNA2 GGT1 F9 F3
36 rare hemorrhagic disorder 10.4
37 adhesive otitis media 10.4 F9 F7
38 autosomal recessive disease 10.3
39 gastric hemangioma 10.3 F3 F2
40 renal pelvis squamous cell carcinoma 10.3 F3 F2
41 papillary adenofibroma 10.3 F3 F2
42 emphysematous cholecystitis 10.3 F3 F2
43 femoral neuropathy 10.3 F3 F2
44 lemierre's syndrome 10.3 F3 F2
45 cerebral sinovenous thrombosis 10.2 F3 F2
46 hemopericardium 10.2 F3 F2
47 arthropathy 10.2
48 intracranial hypotension 10.2 F3 F2
49 splenic sequestration 10.2 F3 F2
50 angiodysplasia 10.2 F8 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

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 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
4 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
5 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
6 prolonged bleeding after surgery 58 31 frequent (33%) Frequent (79-30%) HP:0004846
7 joint hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0005261
8 menorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0000132
9 prolonged prothrombin time 58 31 frequent (33%) Frequent (79-30%) HP:0008151
10 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
11 ovarian cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000138
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:

56
Neurologic Central Nervous System:
intracranial hemorrhage

Genitourinary Internal Genitalia Female:
menorrhagia

Skeletal:
hemarthrosis

Laboratory Abnormalities:
factor vii deficiency

Head And Neck Nose:
epistaxis

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas

Clinical features from OMIM:

227500

Symptoms:

12
  • epistaxis

MGI Mouse Phenotypes related to Factor Vii Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 F10 F2 F3 F7 F8 F9
2 cardiovascular system MP:0005385 9.86 F10 F2 F3 F7 F9 HNF4A
3 mortality/aging MP:0010768 9.7 F10 F2 F3 F7 F8 F9
4 reproductive system MP:0005389 9.17 EGF F10 F2 F8 GGT1 IL2

Drugs & Therapeutics for Factor Vii Deficiency

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

(show top 50) (show all 633)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tegafur Approved, Investigational Phase 4 17902-23-7 5386
2
ofatumumab Approved Phase 4 679818-59-8 6918251
3
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
4
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
5
Etanercept Approved, Investigational Phase 4 185243-69-0
6
Adalimumab Approved Phase 4 331731-18-1 16219006
7
Ustekinumab Approved, Investigational Phase 4 815610-63-0
8
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Nevirapine Approved Phase 4 129618-40-2 4463
11
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
12
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Aldesleukin Approved Phase 4 110942-02-4, 85898-30-2
15
Vemurafenib Approved Phase 4 918504-65-1 23252090 42611257
16 Cytochrome P-450 CYP3A Inducers Phase 4
17 Acetylcholine Release Inhibitors Phase 4
18 Neuromuscular Agents Phase 4
19 Reverse Transcriptase Inhibitors Phase 4
20 incobotulinumtoxinA Phase 4
21 Protein Kinase Inhibitors Phase 4
22 Liver Extracts Phase 4
23 Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Hormones Phase 4
26 Anti-Inflammatory Agents Phase 4
27 Immunoglobulins Phase 4
28 Antibodies Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Interleukin-2 Phase 4
31
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
32
Epirubicin Approved Phase 3 56420-45-2 41867
33
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
34
Melphalan Approved Phase 3 148-82-3 4053 460612
35
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
36
Vinblastine Approved Phase 3 865-21-4 13342 241903
37
Amphotericin B Approved, Investigational Phase 2, Phase 3 1397-89-3 14956 5280965
38
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
39
Nedaplatin Approved, Investigational Phase 3 95734-82-0
40
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
41
Gefitinib Approved, Investigational Phase 3 184475-35-2 123631
42
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
43
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
44
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
45
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
46
Vindesine Approved, Investigational Phase 3 53643-48-4, 59917-39-4 40839
47
Teniposide Approved Phase 3 29767-20-2 34698
48
Ichthammol Approved Phase 3 8029-68-3
49
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
50
Mitotane Approved Phase 3 53-19-0 4211

Interventional clinical trials:

(show top 50) (show all 1766)
# Name Status NCT ID Phase Drugs
1 A Randomized, Controlled, Double Blind, Multicenter Study of Nimotuzumab Plus S1 Versus Placebo Plus S1 as Maintenance Treatment in Patients With Advanced or Metastatic Pancreatic Cancer After First-line Treatment Unknown status NCT02945267 Phase 4 Nimotuzumab plus S1;Placebo plus S1
2 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
3 Tight Control Dose Reductions of Biologics in Psoriasis Patients With Low Disease Activity: A Randomized Pragmatic Trial Completed NCT02602925 Phase 4
4 Phase IV.III Clinical Trial to Evaluate Maintenance Treatment With Caelyx vs. Observation After Administration of Induction Chemotherapy in Metastatic Breast Cancer Patients Completed NCT00128778 Phase 4 Pegylated liposomal doxorubicin
5 Open-label, Efficacy and Safety Study of Bevacizumab (Avastin®) in Combination With XELOX (Oxaliplatin Plus Xeloda®) for the First-line Treatment of Patients With Metastatic Cancer of the Colon or Rectum - 'OBELIX' Completed NCT00577031 Phase 4 bevacizumab [Avastin];Oxaliplatin;Xeloda
6 An Open-label, Multi-center Phase 2 Study to Evaluate Everolimus as Monotherapy Treatment for Patients With Metastatic Recurrent and/or Unresectable Renal Cell Carcinoma (EVERMORE). Completed NCT01206764 Phase 4 RAD001
7 Outcome of Cisplatin and Vinblastine Versus Paclitaxel and Carboplatin as Sequential Chemotherapy Followed by Radiotherapy in Locally Advanced Non-small Cell Lung Cancer Completed NCT03092986 Phase 4 Paclitaxel;Carboplatin;Cisplatin;Vinblastine Sulfate
8 Phase IV Study on the Role of Whole Brain Irradiation in Primary CNS Lymphoma (PCNSL) After High-dose Methotrexate Completed NCT00153530 Phase 4 methotrexate
9 A Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Incobotulinumtoxin Type A for the Functional Improvement of Lower Extremity Spasticity in Patients With Multiple Sclerosis Completed NCT01968902 Phase 4
10 A Prospective Randomized Trial Comparing the Response of HIV Kaposi's Sarcoma (KS) to HAART Versus the Combination of HAART and Chemotherapy (CXT) Completed NCT00380770 Phase 4 Generic HAART Triomune : d4T, 3TC, NVP;Generic HAART Triomune : d4T, 3TC, NVP and chemotherapy ABV
11 A Phase 4, Open-label, Single-Arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Systemic Anaplastic Large Cell Lymphoma Recruiting NCT01909934 Phase 4 brentuximab vedotin
12 Anti-inflammatory Effects of Tiotropium in Patients With Stable COPD- A Multicenter Randomized Controlled Double-blind Study Recruiting NCT04061161 Phase 4 Tiotropium Bromide
13 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
14 Randomized Open-label Study of the Impact of Prolonged Systemic Corticosteroid Therapy on the Course and Relapse Risk of Checkpoint Inhibitor Interstitial Lung Disease (Pneumonitis) Related to the Treatment of Solid Tumors With Anti-programmed-death Type 1 Receptor or Ligand Antibodies Not yet recruiting NCT04036721 Phase 4 Prolonged glucocorticosteroid (prednisone) regimen;Short glucocorticosteroid (prednisone) regimen
15 A Multi-Center Study of High Dose Aldesleukin (Interleukin-2) + Vemurafenib Therapy in Patients With BRAFV600 Mutation Positive Metastatic Melanoma Terminated NCT01683188 Phase 4 vemurafenib + HD IL-2
16 Replacement of Nebulised Ipratropium With Inhaled Tiotropium in Stable COPD Withdrawn NCT00335621 Phase 4 Inhaled Tiotropium
17 Phase III Study of Icotinib With Concurrent Radiotherapy as First-line Treatment for Unresectable/Oligometastasis NSCLC With EGFR Activating Mutation: a Prospective, Multicentre, Open-label, Randomised Study Unknown status NCT02883543 Phase 3 icotinib;Chemotherapy
18 Randomized Study of Docetaxel Versus Docetaxel Plus Genasense™ (G3139; Bcl-2 Antisense Oligonucleotide) in Patients With Previously Treated Non-Small Cell Lung Cancer Unknown status NCT00030641 Phase 2, Phase 3 docetaxel
19 Randomized Phase 3 Study of Xelox(Capecitabine Plus Oxaliplatin) Followed by Maintenance Capecitabine or Observation in Patients With Advanced Gastric Adenocarcinoma Unknown status NCT02289547 Phase 3 Capecitabine
20 Apatinib as Maintenance Therapy After First Line Treatment in Locally Advanced or Metastatic Gastric Cancer: A Randomized, Parallel, Controlled Study Unknown status NCT02537171 Phase 3 apatinib
21 Maintenance Paclitaxel Vs Control After Anthracycline/Paclitaxel Combined First-Line Chemotherapy in Metastatic Breast Cancer Unknown status NCT00289263 Phase 3 Paclitaxel
22 A British Thoracic Oncology Group Phase III Trial of Gemcitabine Plus Cisplatin at 80mg/m Versus Gemcitabine Plus Carboplatin At 50 mg/m Versus Gemcitabine Plus Carboplatin AUC 6 in Stage IIIB/IV Non-Small Cell Lung Cancer (NSCLC) Unknown status NCT00112710 Phase 3 carboplatin;cisplatin;gemcitabine hydrochloride
23 A Prospective, Randomized, Multicenter, Open Label Phase III Study of Active Specific Immunotherapy With Racotumomab Plus Best Support Treatment Versus Best Support Treatment in Patients With Advanced Non-small Cell Lung Camcer. Unknown status NCT01460472 Phase 3
24 Docetaxel In Second-Line Treatment Of Advanced Non-Small-Cell Lung Cancer - The Distal Study Unknown status NCT00022022 Phase 3 docetaxel
25 ONCONASE Plus Doxorubicin Versus Doxorubicin For Patients With Malignant Pleural or Peritoneal Mesothelioma Who Have Had No More Than One Prior Chemotherapy Regimen Unknown status NCT00003034 Phase 3 doxorubicin hydrochloride;ranpirnase
26 A Randomized, Phase III Trial of Prophylactic Cranial Irradiation (PCI) in Patients With Advanced Non-small Cell Lung Cancer (NSCLC) Who Are Nonprogressive on Gefitinib or Erlotinib Unknown status NCT00955695 Phase 3 erlotinib hydrochloride;gefitinib
27 A Phase II/III, Randomised, Two-Arm, Comparison of Maintenance Lapatinib Versus Placebo After First-Line Chemotherapy in Patients With HER1 and/or HER2 Overexpressing Locally Advanced or Metastatic Bladder Cancer [LaMB] Unknown status NCT00949455 Phase 2, Phase 3 lapatinib ditosylate
28 A Partially-Blind Phase III Randomized Trial of Fulvestrant (Faslodex™) With or Without Concomitant Anastrozole (Arimidex™) Compared With Exemestane in Postmenopausal Women With ER+ve Locally Advanced/Metastatic Breast Cancer Following Progression on Non-Steroidal Aromatase Inhibitors Unknown status NCT00253422 Phase 3 anastrozole;exemestane;fulvestrant
29 CT-2103 vs Docetaxel for the Second-Line Treatment of Non-Small Cell Lung Cancer (NSCLC): A Phase III Study Unknown status NCT00054184 Phase 3 docetaxel;paclitaxel poliglumex
30 Vinorelbine Versus Gemcitabine Versus Gemcitabine and Vinorelbine in Elderly Patients With Stage IIIB-IV Non-Small Cell Lung Cancer Unknown status NCT00003447 Phase 3 gemcitabine hydrochloride;vinorelbine tartrate
31 A PROSPECTIVE RANDOMISED TRIAL OF INDUCTION CHEMOTHERAPY WITH 5-FU CONTINUOUS IV INFUSION AND CISPLATIN VERSUS SURGERY IN RESECTABLE ADENOCARCINOMA OF THE LOW THIRD OF THE ESOPHAGUS AND CARDIOESOPHAGEAL JUNCTION Unknown status NCT00002883 Phase 3 cisplatin;fluorouracil
32 PHASE III TRIAL OF MELACINE PLUS INTERFERON ALFA-2B VERSUS INTERFERON ALFA-2B IN PATIENTS WITH DISSEMINATED MALIGNANT MELANOMA Unknown status NCT00002767 Phase 3
33 RANDOMIZED TRIAL OF NEOADJUVANT CHEMOTHERAPY AND SURGERY +/- RADIOTHERAPY VERSUS SURGEERY +/- RADIOTHERAPY IN OPERABLE SQUAMOUS CELL CARCINOMA OF THE ORAL CAVITY Unknown status NCT00002747 Phase 3 cisplatin;fluorouracil
34 A Randomised Phase III Trial Comparing Hepatic Arterial Injection of Yttrium-90 Resin Microspheres (SIR-spheres) Plus Systemic Maintenance Therapy Versus Systemic Maintenance Therapy Alone for Patients With Unresectable Liver Metastases From Colorectal Cancer Which Are Controlled After Induction Systemic Therapy Unknown status NCT01895257 Phase 3 systemic chemotherapy LV5FU2
35 A Prospective, Randomized Phase III Study to Compare the Effects of Paclitaxel and Topotecan to Those of Cisplatin and Topotecan for Treatment of Patients With Recurrent and Persistent Cervical Cancer Unknown status NCT01405235 Phase 3 Paclitaxel;Cisplatin/Paclitaxel
36 The Effect of Celecoxib on Concurrent Chemoradiation With Weekly Nedaplatin in Nasopharyngeal Carcinoma Unknown status NCT02537925 Phase 3 Celecoxib;Nedaplatin
37 Maintenance and Reinduction Chemotherapy With Avastin in Metastatic Colon Cancer: The MARTHA (SICOG 0803) Trial Unknown status NCT00797485 Phase 3 capecitabine;fluorouracil;irinotecan hydrochloride;leucovorin calcium
38 A Clinical Trial Comparing Preoperative Radiation Therapy And Capecitabine With or Without Oxaliplatin With Preoperative Radiation Therapy And Continuous Intravenous Infusion Of 5-Fluorouracil With or Without Oxaliplatin In The Treatment Of Patients With Operable Carcinoma Of The Rectum Unknown status NCT00058474 Phase 3 capecitabine;fluorouracil;oxaliplatin
39 A Randomised Clinical Trial of Treatment for Fluorouracil-Resistant Advanced Colorectal Cancer Comparing Standard Single-Agent Irinotecan Versus Irinotecan Plus Panitumumab and Versus Irinotecan Plus Ciclosporin [Panitumumab, Irinotecan & Ciclosporin in COLOrectal Cancer Therapy (PICCOLO)] Unknown status NCT00389870 Phase 3 cyclosporine;irinotecan hydrochloride
40 TACE-2: A Randomized Placebo-Controlled, Double Blinded, Phase III Trial of Sorafenib in Combination With Transarterial Chemoembolization in Hepatocellular Cancer Unknown status NCT01324076 Phase 3 doxorubicin-eluting beads;sorafenib tosylate
41 A Randomized Controlled Study of Velcade (Bortezomib) Plus Thalidomide Plus Dexamethasone Compared to Thalidomide Plus Dexamethasone for the Treatment of Myeloma Patients Progressing or Relapsing After Autologous Transplantation Unknown status NCT00256776 Phase 3 Velcade (Bortezomib);Thalidomide;Dexamethasone
42 RCT Of Oral Thalidomide And Capecitabine Versus Supportive Therapy In The Treatment Of Unresectable Hepatocellular Carcinoma (BCLC D) Unknown status NCT01438450 Phase 2, Phase 3 Oral
43 Myeloma X Relapse (Intensive): A Phase III Study to Determine the Role of a Second Autologous Stem Cell Transplant as Consolidation Therapy in Patients With Relapsed Multiple Myeloma Following Prior High-dose Chemotherapy and Autologous Stem Cell Rescue. Unknown status NCT00747877 Phase 3 cyclophosphamide;melphalan
44 Phase III, Randomized, Multicenter Study to Assess the Efficacy and Safety of HuM195 (Recombinant Humanized Anti-CD33 Monoclonal Antibody) in Combination With Standardized Chemotherapy Compared to Standardized Chemotherapy Alone in the Treatment of Patients With Refractory or First-Relapsed Acute Myelogenous Leukemia (AML) Unknown status NCT00006045 Phase 3 cytarabine;etoposide;mitoxantrone hydrochloride
45 Randomized Phase III Study of Fulvestrant as Maintenance Therapy After First-line Chemotherapy in HER2 Negative Postmenopausal Metastatic Breast Cancer Patients Unknown status NCT02383030 Phase 3 Fulvestrant
46 A Randomized, Open-label, Multi-center Phase III Study Designed to Evaluate the Safety and Efficacy of E10A in Patients With Recurrent/Unresectable Squamous Cell Carcinoma of the Head and Neck Region Unknown status NCT02630264 Phase 3 Endostatins;Paclitaxel injection;Cisplatin injection
47 Prospective Controlled Trial in Clinical Stages I-II Supradiaphragmatic Hodgkin's Disease: Evaluation of Treatment Efficacy, (Long Term) Toxicity and Quality of Life in Two Different Prognostic Subgroups Unknown status NCT00005584 Phase 3 ABVD regimen;BEACOPP regimen;epirubicin hydrochloride;prednisone;vinblastine sulfate
48 NB2004 Trial Protocol for Risk Adapted Treatment of Children With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
49 A Multicentre, Randomized, Open Label, Phase III Study of Gemcitabine Versus FOLFOX in the First Line Setting for Metastatic Pancreatic Cancer Patients Using Human Equilibrative Nucleoside Transporter 1 (hENT1) Biomarker Testing. Unknown status NCT01586611 Phase 3 5FU, leucovorin, oxaliplatin;Gemcitabine
50 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

Search NIH Clinical Center for Factor Vii Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Lung, Breast, T Cells, Prostate, B Cells, Liver, Brain
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 913)
# 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). 61 56 6
11529858 2001
2
Factor VII deficiency and the FVII mutation database. 61 56 6
11139238 2001
3
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. 61 56 6
11091194 2000
4
Twenty two novel mutations of the factor VII gene in factor VII deficiency. 61 56 6
10862079 2000
5
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. 61 56 6
8883260 1996
6
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. 61 56 6
8652821 1996
7
Molecular analysis of Polish patients with factor VII deficiency. 61 56 6
7919338 1994
8
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). 61 56 6
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. 56 6
14717781 2004
10
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro). 56 6
7981691 1994
11
A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency. 54 61 6
11110717 2000
12
Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. 54 61 56
9680360 1998
13
Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain. 54 61 6
9414278 1998
14
Factor VII Deficiency. 61 56
12181036 2002
15
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. 61 56
11313743 2001
16
Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. 61 56
11225604 2001
17
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. 61 56
11129332 2000
18
Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter. 61 6
9716591 1998
19
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
20
Inherited factor VII deficiency: molecular genetics and pathophysiology. 61 56
9198146 1997
21
Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. 61 6
8978290 1997
22
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. 61 6
8940045 1996
23
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
24
Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. 61 56
4063521 1985
25
Hereditary factor VII deficiency in a Chinese family. 61 56
6836231 1983
26
Studies on a family with the factor VII defect. 61 56
6821712 1983
27
Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. 61 56
7248191 1981
28
Factor VII deficiency. 61 56
7258184 1981
29
Factor VII Padua 2: another factor VII abnormality with defective ox brain thromboplastin activation and a complex hereditary pattern. 61 56
444674 1979
30
Congenital factor VII deficiency. A report of four new cases. 61 56
760871 1979
31
Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency. 61 56
901936 1977
32
Hereditary factor-VII deficiency in the beagle. 61 56
5045961 1972
33
CLINICAL ASPECTS OF CONGENITAL FACTOR VII DEFICIENCY. 61 56
14206752 1964
34
Congenital factor VII deficiency with normal Stuart activity: clinical, genetic and experimental observations. 61 56
14412828 1960
35
[Congenital factor VII deficiency; family investigation and physiological studies on factor VII]. 61 56
13574693 1958
36
Two double heterozygous mutations in the F7 gene show different manifestations. 6
12472587 2002
37
Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients. 56
11260055 2001
38
A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene. 6
8364544 1993
39
Clotting factors VII and X as useful markers of terminal deletion of chromosome 13. 56
3855839 1985
40
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). 56
6985471 1982
41
Genetic variants of factor VII. 56
4113214 1972
42
HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS. 56
14062129 1964
43
Inherited factor-VII defect in a Negro family. 56
13706109 1961
44
The use of tissue thromboplastins of different origin is a fundamental tool in the initial characterization of FVII defects on "factor VII deficiency (Semin Thromb Hemost 2009;35(4):400-406)". 54 61
20391303 2010
45
Clinical audit of inherited bleeding disorders in a developing country. 54 61
20090222 2010
46
Asymptomatic factor VII deficiency: gene analysis and structure-function relationships. 54 61
20040857 2010
47
The clinical and laboratory significance of cases of congenital FX deficiency due to defects in the Gla-domain. 54 61
19490765 2009
48
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 54 61
18803553 2009
49
Frequencies of mild factor V, VII and X deficiencies in a Japanese population. 54 61
18685445 2008
50
Liver after hepatocyte transplantation for liver-based metabolic disorders in children. 54 61
19364077 2008

Variations for Factor Vii Deficiency

ClinVar genetic disease variations for Factor Vii Deficiency:

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F7 F7, CYS310PHESNV Pathogenic 12068
2 F7 F7, CYS178TYRSNV Pathogenic 12069
3 F7 F7, ARG247HISSNV Pathogenic 12070
4 F7 F7, THR359METundetermined variant Pathogenic 12071
5 F7 F7, ALA244VALSNV Pathogenic 12072
6 F7 F7, ASN57ASPSNV Pathogenic 12073
7 F7 F7, IVS4DS, G-A, +1SNV Pathogenic 12074
8 F7 NM_000131.4(F7):c.38T>C (p.Leu13Pro)SNV Pathogenic 12075 rs387906507 13:113760193-113760193 13:113105879-113105879
9 F7 F7, -61T-GSNV Pathogenic 12081
10 F7 F7, -94C-GSNV Pathogenic 12082
11 F7 F7, -55C-TSNV Pathogenic 12083
12 F7 F7, CYS61TERundetermined variant Pathogenic 12084
13 F7 NM_000131.4(F7):c.1165T>G (p.Cys389Gly)SNV Pathogenic 12085 rs121964934 13:113773086-113773086 13:113118772-113118772
14 F7 NM_000131.4(F7):c.628C>T (p.Gln210Ter)SNV Pathogenic 12086 rs267606790 13:113771136-113771136 13:113116822-113116822
15 F7 F7, GLU25LYSundetermined variant Pathogenic 12087
16 F7 NM_000131.4(F7):c.1224T>G (p.His408Gln)SNV Pathogenic 12088 rs121964936 13:113773145-113773145 13:113118831-113118831
17 F7 F7, GLY354CYSundetermined variant Pathogenic 12089
18 F7 NM_000131.4(F7):c.983T>C (p.Phe328Ser)SNV Pathogenic 12090 rs387906508 13:113772904-113772904 13:113118590-113118590
19 F7 NM_000131.4(F7):c.849_865del (p.Arg284fs)deletion Pathogenic 12077 rs786205091 13:113772770-113772786 13:113118456-113118472
20 F7 F7, 1-BP DEL, 11128Cdeletion Pathogenic 12078
21 F7 NM_000131.4(F7):c.479A>G (p.Gln160Arg)SNV Pathogenic 627178 rs200016360 13:113770022-113770022 13:113115708-113115708
22 F7 NM_000131.4(F7):c.1091G>A (p.Arg364Gln)SNV Pathogenic 420159 rs121964926 13:113773012-113773012 13:113118698-113118698
23 F7 NM_000131.4(F7):c.1109G>T (p.Cys370Phe)SNV Pathogenic/Likely pathogenic 265135 rs121964927 13:113773030-113773030 13:113118716-113118716
24 F7 NM_000131.4(F7):c.1061C>T (p.Ala354Val)SNV Pathogenic/Likely pathogenic 12076 rs36209567 13:113772982-113772982 13:113118668-113118668
25 F7 NM_000131.4(F7):c.509G>A (p.Arg170His)SNV Likely pathogenic 627084 13:113770052-113770052 13:113115738-113115738
26 F7 NM_000131.4(F7):c.722C>A (p.Thr241Asn)SNV Likely pathogenic 626937 13:113771827-113771827 13:113117513-113117513
27 F7 NM_000131.4(F7):c.817_831del (p.Leu273_Asp277del)deletion Likely pathogenic 627392 13:113772727-113772741 13:113118413-113118427
28 F7 NM_000131.4(F7):c.911C>T (p.Ala304Val)SNV Likely pathogenic 627403 13:113772832-113772832 13:113118518-113118518
29 F7 NM_000131.4(F7):c.1027G>A (p.Gly343Ser)SNV Likely pathogenic 627193 13:113772948-113772948 13:113118634-113118634
30 F7 NM_000131.4(F7):c.1114C>T (p.Gln372Ter)SNV Likely pathogenic 626975 13:113773035-113773035 13:113118721-113118721
31 F7 NM_000131.4(F7):c.1391del (p.Pro464fs)deletion Likely pathogenic 626999 13:113773309-113773309 13:113118995-113118995
32 F7 NM_000131.4(F7):c.-61T>GSNV Likely pathogenic 626946 13:113760095-113760095 13:113105781-113105781
33 F7 NM_000131.4(F7):c.-55C>TSNV Likely pathogenic 626945 13:113760101-113760101 13:113105787-113105787
34 F7 NM_000131.4(F7):c.430+1G>ASNV Likely pathogenic 627309 13:113768275-113768275 13:113113961-113113961
35 F7 NM_000131.4(F7):c.681+1G>TSNV Likely pathogenic 627119 13:113771190-113771190 13:113116876-113116876
36 F7 NM_000131.4(F7):c.805+5G>ASNV Likely pathogenic 627144 13:113771915-113771915 13:113117601-113117601
37 F7 NM_000131.4(F7):c.1285G>A (p.Ala429Thr)SNV Likely pathogenic 374352 rs755377592 13:113773206-113773206 13:113118892-113118892
38 F7 NM_000131.4(F7):c.-30A>CSNV Likely pathogenic 626922 13:113760126-113760126 13:113105812-113105812
39 F7 NM_000131.4(F7):c.218T>A (p.Leu73Gln)SNV Likely pathogenic 627276 13:113765091-113765091 13:113110777-113110777
40 F7 NM_000131.4(F7):c.805+3_805+6delshort repeat Likely pathogenic 632209 rs754785708 13:113771908-113771911 13:113117594-113117597
41 F7 NM_000131.4(F7):c.283G>A (p.Glu95Lys)SNV Uncertain significance 627050 13:113765156-113765156 13:113110842-113110842
42 F7 NM_000131.4(F7):c.215C>G (p.Ser72Cys)SNV Uncertain significance 627274 13:113765088-113765088 13:113110774-113110774
43 F7 NM_000131.4(F7):c.*1475G>ASNV Uncertain significance 311262 rs3093258 13:113774797-113774797 13:113120483-113120483
44 F7 NM_000131.4(F7):c.*1500_*1503deldeletion Uncertain significance 311263 rs539395699 13:113774819-113774822 13:113120505-113120508
45 F7 NM_000131.4(F7):c.169C>A (p.Arg57=)SNV Uncertain significance 311222 rs886049987 13:113765042-113765042 13:113110728-113110728
46 F7 NM_000131.4(F7):c.*620C>TSNV Uncertain significance 311244 rs151109093 13:113773942-113773942 13:113119628-113119628
47 F7 NM_000131.4(F7):c.*909C>TSNV Uncertain significance 311254 rs886049999 13:113774231-113774231 13:113119917-113119917
48 F7 NM_000131.4(F7):c.*1054C>ASNV Uncertain significance 311256 rs546634569 13:113774376-113774376 13:113120062-113120062
49 F7 NM_000131.4(F7):c.805+7_805+43deldeletion Uncertain significance 627387 13:113771900-113771936 13:113117586-113117622
50 F7 NM_019616.3(F7):c.*703_*704AC[3]short repeat Uncertain significance 311249 rs3093252 13:113774024-113774027 13:113119710-113119713

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

73 (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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SERPINC1 IL2 IFNA2 F9 F8 F7
2
Show member pathways
12.59 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
12.04 IL2 GGT1 F7 F2
4
Show member pathways
12 IL2 IFNA2 EGF
5
Show member pathways
11.7 F9 F7 F2 F10
6
Show member pathways
11.7 SERPINC1 F9 F8 F7 F3 F2
7 11.55 IL2 IFNA2 EGF
8 11.33 SERPINC1 F9 F8 F7 F3 F2
9 10.73 F9 F7 F2 F10

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 9.96 SERPINC1 IL2 IFNA2 F9 F8 F7
2 collagen-containing extracellular matrix GO:0062023 9.63 SERPINC1 IFNA2 F9 F7 F3 F2
3 Golgi lumen GO:0005796 9.62 F9 F7 F2 F10
4 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 F9 F8 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 GGT1 F9 F8

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 GGT1 F9 F7 F2 F10
2 positive regulation of cell migration GO:0030335 9.73 F7 F3 F10 EGF
3 positive regulation of protein kinase B signaling GO:0051897 9.67 F7 F3 F10 EGF
4 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F9 F8 F7 F2 F10
5 positive regulation of phosphorylation GO:0042327 9.54 IFNA2 EGF
6 zymogen activation GO:0031638 9.52 GGT1 F9
7 positive regulation of blood coagulation GO:0030194 9.51 F7 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.5 F9 F8 F2
9 hemostasis GO:0007599 9.5 SERPINC1 F9 F8 F7 F3 F2
10 positive regulation of positive chemotaxis GO:0050927 9.49 F7 F3
11 regulation of blood coagulation GO:0030193 9.48 SERPINC1 F2
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
13 blood coagulation, extrinsic pathway GO:0007598 9.33 F7 F3 F10
14 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 protein binding GO:0005515 10.07 SERPINC1 IL2 IFNA2 HNF4A GGT1 GFM1
2 calcium ion binding GO:0005509 9.72 F9 F7 F2 F10 EGF
3 peptidase activity GO:0008233 9.55 GGT1 F9 F7 F2 F10
4 growth factor activity GO:0008083 9.54 IL2 F2 EGF
5 serine-type peptidase activity GO:0008236 9.26 F9 F7 F2 F10
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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