MCID: FCT007
MIFTS: 61

Factor Vii Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Vii Deficiency

MalaCards integrated aliases for Factor Vii Deficiency:

Name: Factor Vii Deficiency 57 38 12 76 53 25 75 29 13 55 6 44 15 73
Hypoproconvertinemia 57 53 25 59 75
F7 Deficiency 57 53 25 75
Congenital Proconvertin Deficiency 53 59 75
Factor 7 Deficiency 53 75
Serum Prothrombin Conversion Accelerator Deficiency 25
Prothrombin Conversion Accelerator Deficiency 25
Congenital Factor Vii Deficiency 59
Proconvertin Deficiency 25
Deficiency, Factor Vii 40
Deficiency, Stable 12
Stable Disease 55
Fa7d 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 227500
Disease Ontology 12 DOID:2215
ICD10 33 D68.2
MeSH 44 D005168
SNOMED-CT 68 154820003 37193007
Orphanet 59 ORPHA327
UMLS via Orphanet 74 C0015503
ICD10 via Orphanet 34 D68.2
MedGen 42 C0015503
UMLS 73 C0015503

Summaries for Factor Vii Deficiency

NIH Rare Diseases : 53 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 purpura fulminans. An important gene associated with Factor Vii Deficiency is F7 (Coagulation Factor VII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Thrombin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and heart, and related phenotypes are intracranial hemorrhage and gastrointestinal hemorrhage

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)

UniProtKB/Swiss-Prot : 75 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.

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).

Wikipedia : 76 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 147)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia a 32.2 F3 F8 F9
2 purpura fulminans 30.1 F2 F3
3 compartment syndrome 29.7 F2 F8
4 factor viii deficiency 29.6 F2 F8
5 thrombosis 29.5 F10 F2 F3 F9
6 severe hemophilia a 29.3 F2 F3 F8
7 pulmonary embolism 29.1 F10 F2 F3 F9
8 cardiac tamponade 29.0 F2 F8 F9
9 hemophilia a 28.7 F10 F3 F7 F8 F9
10 von willebrand's disease 28.6 F2 F3 F8 F9
11 hemophilia 28.6 F2 F3 F7 F8 F9
12 thrombophilia due to thrombin defect 28.5 F10 F2 F3 F8
13 factor x deficiency 28.3 F10 F2 F3 F7 F9
14 hemorrhagic disease 27.2 F10 F2 F3 F7 F8 F9
15 hemophilia b 26.7 EGF F10 F2 F3 F7 F8
16 heparin-induced thrombocytopenia 10.6 F10 F3
17 carotid artery thrombosis 10.6 F10 F3
18 mesenteric vascular occlusion 10.5 F2 F7
19 malignant skin fibrous histiocytoma 10.5 F7 F9
20 cerebral falx meningioma 10.5 F2 F3
21 intestinal impaction 10.5 F2 F3
22 cerebral sinovenous thrombosis 10.4 F2 F3
23 qualitative platelet defect 10.4 F2 F3
24 giant hemangioma 10.4 F2 F3
25 factor xii deficiency 10.4 F3 F9
26 sagittal sinus thrombosis 10.4 F2 F3
27 blue toe syndrome 10.4 F2 F3
28 intracranial embolism 10.4 F2 F3
29 femoral neuropathy 10.4 F2 F3
30 hantavirus pulmonary syndrome 10.4 F2 F3
31 splenic disease 10.4 F2 F3
32 malignant dermis tumor 10.4 F7 F9
33 prothrombin deficiency, congenital 10.4 F10 F2
34 marantic endocarditis 10.4 F2 F3
35 korean hemorrhagic fever 10.4 F2 F3
36 ischemic heart disease 10.4 F2 F7
37 hepatic infarction 10.4 F2 F3
38 von willebrand disease, type 2 10.4 F7 F8
39 peripheral vertigo 10.3 F2 F3
40 antithrombin iii deficiency 10.3 F10 F2
41 hemorrhagic fever 10.3 F2 F3
42 mild hemophilia a 10.3 F10 F8
43 branch retinal artery occlusion 10.3 F2 F3
44 portal vein thrombosis 10.3 F2 F7
45 endocardium disease 10.3 F2 F3
46 acquired von willebrand syndrome 10.3 F8 F9
47 intracranial thrombosis 10.3 F3 F8
48 multicentric castleman disease 10.3 F3 F8
49 scott syndrome 10.2 F10 F2
50 factor xiii deficiency 10.2 F3 F8

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



Diseases related to Factor Vii Deficiency

Symptoms & Phenotypes for Factor Vii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Skeletal:
hemarthrosis

Laboratory Abnormalities:
factor vii deficiency

Neurologic Central Nervous System:
intracranial hemorrhage

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas


Clinical features from OMIM:

227500

Human phenotypes related to Factor Vii Deficiency:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
2 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
3 menorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0000132
4 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
5 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
6 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
7 prolonged bleeding after surgery 59 32 frequent (33%) Frequent (79-30%) HP:0004846
8 joint hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0005261
9 prolonged prothrombin time 59 32 frequent (33%) Frequent (79-30%) HP:0008151
10 ovarian cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000138
11 abnormality of the umbilical cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0010881
12 post-partum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011891
13 abnormal bleeding 32 HP:0001892
14 reduced factor vii activity 32 HP:0008169
15 intramuscular hematoma 32 HP:0012233

MGI Mouse Phenotypes related to Factor Vii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 F10 F2 F3 F7 F8 F9

Drugs & Therapeutics for Factor Vii Deficiency

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


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

Interventional clinical trials:


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

Search NIH Clinical Center for Factor Vii Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Liver, Heart, Testes, Myeloid, Bone, Bone Marrow, 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 404)
# Title Authors Year
1
Pediatric cardiac intervention in a case of congenital factor VII deficiency: a challenge to overcome. ( 29398832 )
2018
2
Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency. ( 29368589 )
2018
3
Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency. ( 29618153 )
2018
4
Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. ( 29916836 )
2018
5
Factor VII deficiency in major artery occlusion stroke. ( 29318701 )
2018
6
Delayed Presentation of Compartment Syndrome of the Thigh in a Previously Undiagnosed Factor VII-Deficient High School Football Athlete: A Case Report. ( 29369058 )
2018
7
Serendipitous Discovery of Factor VII Deficiency and the Ensuing Dilemma. ( 29868144 )
2018
8
Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain. ( 29246447 )
2018
9
Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report. ( 29765293 )
2018
10
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. ( 28447100 )
2017
11
Management of concomitant factor VII deficiency and Factor V Leiden mutation. ( 28111927 )
2017
12
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012-2014). ( 29035661 )
2017
13
Cerebral Venous Sinus Thrombosis in a Patient with Undiagnosed Factor VII Deficiency. ( 28969734 )
2017
14
Factor VII deficiency diagnosed after minor genital trauma. ( 28111834 )
2017
15
Congenital factor VII deficiency: Multidisciplinary approach is the key to successful perioperative outcome. ( 28405048 )
2017
16
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. ( 29104756 )
2017
17
HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY A F7 MISSENSE MUTATION. ( 28118558 )
2017
18
Thrombosis in a bleeding disorder: case of thromboembolism in factor VII deficiency. ( 28265390 )
2017
19
Two-incision laparoscopic appendectomy for a severe hemophilia A child patient with coagulation factor VII deficiency: Case report and review of literature. ( 29019885 )
2017
20
Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency. ( 29876229 )
2017
21
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. ( 28350321 )
2017
22
Coronary artery stenosis treatment in aging patients with inherited Factor VII deficiency: Where do we stand? ( 29102389 )
2017
23
Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children. ( 28684918 )
2017
24
Pulmonary embolism in a patient with mild factor VII deficiency after administration of recombinant activated factor VII during a urological procedure. ( 28452972 )
2017
25
Management of Surgical Third Lower Molar Extraction and Postoperative Progress in Patients With Factor VII Deficiency: A Clinical Protocol and Focus on This Rare Pathologic Entity. ( 28672139 )
2017
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
Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s. ( 26761581 )
2016
28
Ischemic stroke in a patient with moderate to severe inherited factor VII deficiency. ( 27776919 )
2016
29
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
30
Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies. ( 27338009 )
2016
31
Anticoagulation Therapy Considerations in Factor VII Deficiency. ( 27747688 )
2016
32
Acquired factor VII deficiency following FOLFOX in a patient with colorectal cancer who was also DPD deficient. ( 26770273 )
2016
33
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
34
Management of Labour and Delivery in a Patient With Acquired Factor VII Deficiency With Inhibitor: A Case Report. ( 27032741 )
2016
35
Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment. ( 28038846 )
2016
36
Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. ( 26852649 )
2016
37
Factor VII Deficiency: From Basics to Clinical Laboratory Diagnosis and Patient Management. ( 27701084 )
2016
38
Inhibitor development after liver transplantation in congenital factor VII deficiency. ( 27501477 )
2016
39
Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. ( 28018685 )
2016
40
Prophylactic treatment of hereditary severe factor VII deficiency in pregnancy. ( 27306331 )
2016
41
Lower extremity compartment syndrome in the setting of iliofemoral deep vein thrombosis, phlegmasia cerulea dolens and factor VII deficiency. ( 27113791 )
2016
42
Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. ( 26962982 )
2016
43
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency. ( 27513915 )
2016
44
Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery. ( 26249164 )
2015
45
First living-related liver transplant to cure factor VII deficiency. ( 26152797 )
2015
46
Long-term prophylaxis in severe factor VII deficiency. ( 25952977 )
2015
47
Anaesthetic management of a parturient with factor VII deficiency and sepsis. ( 26303752 )
2015
48
Isolated acquired factor VII deficiency: review of the literature. ( 26400474 )
2015
49
A rare combination: congenital factor VII deficiency with Chiari malformation. ( 26248161 )
2015
50
Use of recombinant factor VII for tooth extractions in a patient with severe congenital factor VII deficiency: A case report. ( 25819659 )
2015

Variations for Factor Vii Deficiency

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

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

ClinVar genetic disease variations for Factor Vii Deficiency:

6
(show top 50) (show all 132)
# 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.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs387906507 GRCh38 Chromosome 13, 113105879: 113105879
10 F7 NM_000131.4(F7): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs36209567 GRCh37 Chromosome 13, 113772982: 113772982
11 F7 NM_000131.4(F7): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs36209567 GRCh38 Chromosome 13, 113118668: 113118668
12 F7 NM_000131.4(F7): c.849_865del17 (p.Arg284Hisfs) deletion Pathogenic rs786205091 GRCh37 Chromosome 13, 113772770: 113772786
13 F7 NM_000131.4(F7): c.849_865del17 (p.Arg284Hisfs) deletion Pathogenic rs786205091 GRCh38 Chromosome 13, 113118456: 113118472
14 F7 F7, 1-BP DEL, 11128C deletion Pathogenic
15 F7 F7, -61T-G single nucleotide variant Pathogenic
16 F7 F7, -94C-G single nucleotide variant Pathogenic
17 F7 F7, -55C-T single nucleotide variant Pathogenic
18 F7 F7, CYS61TER undetermined variant Pathogenic
19 F7 NM_000131.4(F7): c.1165T> G (p.Cys389Gly) single nucleotide variant Pathogenic rs121964934 GRCh37 Chromosome 13, 113773086: 113773086
20 F7 NM_000131.4(F7): c.1165T> G (p.Cys389Gly) single nucleotide variant Pathogenic rs121964934 GRCh38 Chromosome 13, 113118772: 113118772
21 F7 NM_000131.4(F7): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs267606790 GRCh37 Chromosome 13, 113771136: 113771136
22 F7 NM_000131.4(F7): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs267606790 GRCh38 Chromosome 13, 113116822: 113116822
23 F7 F7, GLU25LYS undetermined variant Pathogenic
24 F7 NM_000131.4(F7): c.1224T> G (p.His408Gln) single nucleotide variant Pathogenic rs121964936 GRCh37 Chromosome 13, 113773145: 113773145
25 F7 NM_000131.4(F7): c.1224T> G (p.His408Gln) single nucleotide variant Pathogenic rs121964936 GRCh38 Chromosome 13, 113118831: 113118831
26 F7 F7, GLY354CYS undetermined variant Pathogenic
27 F7 NM_000131.4(F7): c.983T> C (p.Phe328Ser) single nucleotide variant Pathogenic rs387906508 GRCh37 Chromosome 13, 113772904: 113772904
28 F7 NM_000131.4(F7): c.983T> C (p.Phe328Ser) single nucleotide variant Pathogenic rs387906508 GRCh38 Chromosome 13, 113118590: 113118590
29 F7 NM_000131.4(F7): c.64+9G> A single nucleotide variant Benign rs6039 GRCh37 Chromosome 13, 113760228: 113760228
30 F7 NM_000131.4(F7): c.64+9G> A single nucleotide variant Benign rs6039 GRCh38 Chromosome 13, 113105914: 113105914
31 F7 NM_000131.4(F7): c.525C> T (p.His175=) single nucleotide variant Benign rs6042 GRCh37 Chromosome 13, 113770068: 113770068
32 F7 NM_000131.4(F7): c.525C> T (p.His175=) single nucleotide variant Benign rs6042 GRCh38 Chromosome 13, 113115754: 113115754
33 F7 NM_000131.4(F7): c.64+8C> T single nucleotide variant Likely benign rs10482844 GRCh37 Chromosome 13, 113760227: 113760227
34 F7 NM_000131.4(F7): c.*340T> C single nucleotide variant Uncertain significance rs545497651 GRCh38 Chromosome 13, 113119348: 113119348
35 F7 NM_000131.4(F7): c.*340T> C single nucleotide variant Uncertain significance rs545497651 GRCh37 Chromosome 13, 113773662: 113773662
36 F7 NM_000131.4(F7): c.*605G> A single nucleotide variant Uncertain significance rs144204350 GRCh38 Chromosome 13, 113119613: 113119613
37 F7 NM_000131.4(F7): c.*605G> A single nucleotide variant Uncertain significance rs144204350 GRCh37 Chromosome 13, 113773927: 113773927
38 F7 NM_000131.4(F7): c.*628_*630delTCA deletion Uncertain significance rs886049994 GRCh38 Chromosome 13, 113119636: 113119638
39 F7 NM_000131.4(F7): c.*628_*630delTCA deletion Uncertain significance rs886049994 GRCh37 Chromosome 13, 113773950: 113773952
40 F10; F7 NM_000131.4(F7): c.*770G> A single nucleotide variant Benign rs3093253 GRCh37 Chromosome 13, 113774092: 113774092
41 F10; F7 NM_000131.4(F7): c.*770G> A single nucleotide variant Benign rs3093253 GRCh38 Chromosome 13, 113119778: 113119778
42 F7 NM_000131.4(F7): c.*991G> A single nucleotide variant Uncertain significance rs3093254 GRCh38 Chromosome 13, 113119999: 113119999
43 F7 NM_000131.4(F7): c.*991G> A single nucleotide variant Uncertain significance rs3093254 GRCh37 Chromosome 13, 113774313: 113774313
44 F7 NM_000131.4(F7): c.*1057C> T single nucleotide variant Uncertain significance rs141219406 GRCh38 Chromosome 13, 113120065: 113120065
45 F7 NM_000131.4(F7): c.*1057C> T single nucleotide variant Uncertain significance rs141219406 GRCh37 Chromosome 13, 113774379: 113774379
46 F10; F7 NM_000131.4(F7): c.*1275A> G single nucleotide variant Likely benign rs3093257 GRCh38 Chromosome 13, 113120283: 113120283
47 F10; F7 NM_000131.4(F7): c.*1275A> G single nucleotide variant Likely benign rs3093257 GRCh37 Chromosome 13, 113774597: 113774597
48 F7 NM_000131.4(F7): c.*1614A> C single nucleotide variant Uncertain significance rs577978392 GRCh38 Chromosome 13, 113120622: 113120622
49 F7 NM_000131.4(F7): c.*1614A> C single nucleotide variant Uncertain significance rs577978392 GRCh37 Chromosome 13, 113774936: 113774936
50 F10; F7 NM_000131.4(F7): c.*1649G> A single nucleotide variant Likely benign rs3093259 GRCh38 Chromosome 13, 113120657: 113120657

Expression for Factor Vii Deficiency

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

Pathways for Factor Vii Deficiency

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

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

GO Terms for Factor Vii Deficiency

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

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 F10 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.76 EGF F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.73 EGF F10 F3 F7
5 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
6 blood coagulation, intrinsic pathway GO:0007597 9.62 F10 F2 F8 F9
7 peptidyl-glutamic acid carboxylation GO:0017187 9.56 F10 F2 F7 F9
8 acute-phase response GO:0006953 9.52 F2 F8
9 positive regulation of blood coagulation GO:0030194 9.51 F2 F7
10 blood coagulation GO:0007596 9.5 F10 F2 F3 F7 F8 F9
11 positive regulation of positive chemotaxis GO:0050927 9.49 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F3 F7
13 blood coagulation, extrinsic pathway GO:0007598 9.46 F10 F3 F7 F9
14 hemostasis GO:0007599 9.1 F10 F2 F3 F7 F8 F9

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

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

Sources for Factor Vii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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