FA5D
MCID: FCT006
MIFTS: 49

Factor V Deficiency (FA5D)

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

Aliases & Classifications for Factor V Deficiency

MalaCards integrated aliases for Factor V Deficiency:

Name: Factor V Deficiency 58 12 77 54 26 76 38 30 13 6 45 15 74
Parahemophilia 58 26 60 76
Labile Factor Deficiency 58 12 26
Proaccelerin Deficiency 12 26 60
Owren Disease 26 60 76
Quebec Platelet Disorder 76 74
Owren Parahemophilia 58 76
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 60
Deficiency, Factor V 41
Factor 5 Deficiency 76
Deficiency, Labile 12
Owren's Disease 26
Fa5d 76

Characteristics:

Orphanet epidemiological data:

60
congenital factor v deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
incidence of 1 in 1,000,000
heterozygotes are usually asymptomatic


HPO:

33
factor v deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2216
OMIM 58 227400
KEGG 38 H00220
MeSH 45 D005166
NCIt 51 C98938
SNOMED-CT 69 88776002
ICD10 34 D68.2
ICD10 via Orphanet 35 D68.2
UMLS via Orphanet 75 C0015499
Orphanet 60 ORPHA326
MedGen 43 C0015499

Summaries for Factor V Deficiency

Genetics Home Reference : 26 Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.

MalaCards based summary : Factor V Deficiency, also known as parahemophilia, is related to thrombophilia due to activated protein c resistance and blood platelet disease. An important gene associated with Factor V Deficiency is F5 (Coagulation Factor V), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include lung, skin and placenta, and related phenotypes are epistaxis and bruising susceptibility

NIH Rare Diseases : 54 Factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly. This disorder is caused by mutations in the F5 gene, which leads to a deficiency of a protein called coagulation factor V. The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma. This condition is inherited in an autosomal recessive manner. Treatment includes fresh blood plasma or fresh frozen plasma infusions during bleeding episodes. 

UniProtKB/Swiss-Prot : 76 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 77 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... more...

Description from OMIM: 227400

Related Diseases for Factor V Deficiency

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

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 31.3 F2 F3 F5 F8
2 blood platelet disease 30.2 F2 F3 F8
3 protein c deficiency 29.7 F2 F5
4 homocysteinemia 29.6 F2 F5
5 factor v and factor viii, combined deficiency of, 2 29.5 F5 F8
6 protein s deficiency 29.5 F2 F3 F5
7 cardiac tamponade 29.3 F2 F8
8 acquired hemophilia 29.3 F3 F5 F8
9 antiphospholipid syndrome 29.2 F2 F3 F5
10 coronary artery anomaly 29.2 F2 F5 F7
11 thrombophlebitis 29.0 F2 F5 F8
12 hemophilia 28.9 F2 F3 F7 F8
13 budd-chiari syndrome 28.8 F2 F3 F5 F7
14 stroke, ischemic 28.8 F2 F3 F5 F7
15 hemorrhagic disease 28.7 F8 F7 F5 F3 F2
16 thrombophilia due to thrombin defect 28.6 F2 F3 F5 F8
17 thrombosis 28.3 F8 F7 F5 F3 F2
18 factor v and factor viii, combined deficiency of, 1 11.3
19 catastrophic antiphospholipid syndrome 10.1 F3 F5
20 paracetamol poisoning 10.1 F2 F5
21 factor xii deficiency 10.1 F3 F5
22 spinal cord infarction 10.1 F2 F5
23 sudden sensorineural hearing loss 10.1 F2 F5
24 hemoglobin e disease 10.1 F2 F5
25 prothrombin deficiency, congenital 10.1 F2 F5
26 cryptogenic cirrhosis 10.1 F2 F5
27 ischemic colitis 10.1 F2 F5
28 porencephaly 10.1 F2 F5
29 cataract 10.1
30 cerebral falx meningioma 10.1 F2 F3
31 leech infestation 10.1 F2 F3
32 mesenteric vascular occlusion 10.1 F2 F7
33 intestinal impaction 10.1 F2 F3
34 retinal vascular occlusion 10.1 F2 F5
35 qualitative platelet defect 10.1 F2 F3
36 giant hemangioma 10.1 F2 F3
37 antithrombin iii deficiency 10.1 F2 F5
38 blue toe syndrome 10.1 F2 F3
39 central retinal vein occlusion 10.1 F2 F5
40 femoral neuropathy 10.1 F2 F3
41 retinal vein occlusion 10.1 F2 F5
42 hantavirus pulmonary syndrome 10.0 F2 F3
43 korean hemorrhagic fever 10.0 F2 F3
44 marantic endocarditis 10.0 F2 F3
45 vascular hemostatic disease 10.0 F2 F3
46 splenic disease 10.0 F2 F3
47 dysfibrinogenemia 10.0 F2 F5
48 purpura fulminans 10.0 F2 F3
49 purpura 10.0 F2 F3
50 hepatic infarction 10.0 F2 F3

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



Diseases related to Factor V Deficiency

Symptoms & Phenotypes for Factor V Deficiency

Human phenotypes related to Factor V Deficiency:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 bruising susceptibility 33 HP:0000978
3 prolonged bleeding time 33 HP:0003010
4 menorrhagia 33 HP:0000132
5 prolonged partial thromboplastin time 33 HP:0003645
6 prolonged prothrombin time 33 HP:0008151
7 prolonged whole-blood clotting time 33 HP:0005542
8 reduced coagulation factor v activity 33 HP:0003225

Symptoms via clinical synopsis from OMIM:

58
Hematology:
factor v deficiency
bleeding episodes (epistaxis, menorrhagia, ecchymosis)
prolonged bleeding

Laboratory Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prolonged prothrombin time (pt)

Clinical features from OMIM:

227400

MGI Mouse Phenotypes related to Factor V Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 F2 F3 F5 F7 F8

Drugs & Therapeutics for Factor V Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prediction of Outcome in Severe Preeclampsia Completed NCT03871764

Search NIH Clinical Center for Factor V Deficiency

Cochrane evidence based reviews: factor v deficiency

Genetic Tests for Factor V Deficiency

Genetic tests related to Factor V Deficiency:

# Genetic test Affiliating Genes
1 Factor V Deficiency 30 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

42
Lung, Skin, Placenta, Liver, Whole Blood, Testes, Heart

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 223)
# Title Authors Year
1
Factor V Deficiency with a Thrombotic Clinical Phenotype. ( 30630204 )
2019
2
Expecting the unexpected: Acquired haemophilia A in a patient with homozygous factor V deficiency. ( 30690823 )
2019
3
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. ( 30791524 )
2019
4
Successful management of transcatheter aortic valve implantation by platelet transfusions in a nonagenarian patient with severe autoimmune factor V deficiency. ( 30830247 )
2019
5
Perioperative management of a patient with severe factor V deficiency presenting with chronic subdural hematoma: a clinical report. ( 30999086 )
2019
6
Challenges in management of unusual acquired factor V deficiency: A case report. ( 31027075 )
2019
7
Platelet transfusion as treatment for factor V deficiency in the parturient: a case report. ( 31032969 )
2019
8
Acquired factor V deficiency in a patient with myeloma and amyloidosis. ( 29427868 )
2018
9
Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria. ( 29105952 )
2018
10
Management of intracranial hemorrhage in severe factor V deficiency and definitive treatment with liver transplantation. ( 29250911 )
2018
11
"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate. ( 29578313 )
2018
12
The interaction of factor V and tissue factor pathway inhibitor in a myeloma patient with acquired factor V deficiency. ( 29665188 )
2018
13
Management of Single Uncomplicated Dental Extractions and Postoperative Bleeding Evaluation in Patients With Factor V Deficiency: A Local Antihemorrhagic Approach. ( 30012405 )
2018
14
Acquired factor V deficiency in a patient with a urinary tract infection presenting with haematuria followed by multiple haemorrhages with an extremely low level of factor V inhibitor: a case report and review of the literature. ( 27428013 )
2017
15
Major bleeding as spontaneous haemoperitoneum in a patient with factor V deficiency. ( 28111894 )
2017
16
Haemoperitoneum due to ruptured ovarian cyst in a 13-year-old girl with factor V deficiency- A case report. ( 28138193 )
2017
17
Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran: Recent Ten Years' Experience. ( 28270373 )
2017
18
A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation. ( 28503128 )
2017
19
Successful coronary stenting in a patient with factor V deficiency in the absence of fresh frozen plasma transfusion: Case report. ( 29390379 )
2017
20
Pregnancies with factor V deficiency: a case report and review of the literature. ( 29746045 )
2017
21
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients. ( 26709270 )
2016
22
Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome. ( 26839474 )
2016
23
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. ( 26980222 )
2016
24
Transfusion management of factor V deficiency: three case reports and review of the literature. ( 27125565 )
2016
25
Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V. ( 27444974 )
2016
26
Transient Factor V deficiency associated with Factor V-immunoglobulin complexes but without evidence of a classical inhibitor. ( 27664390 )
2016
27
Hip Replacement Surgery in 14-Year-Old Girl with Factor V Deficiency: Haemostatic Treatment and Thromboprophylaxis. ( 27872768 )
2016
28
Comment on transfusion management of Factor V deficiency. ( 27933625 )
2016
29
Subperiosteal hematoma from peribulbar block during cataract surgery leading to optic nerve compression in a patient with parahemophilia. ( 26664247 )
2015
30
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. ( 25438872 )
2015
31
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. ( 25470420 )
2015
32
Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients. ( 25854415 )
2015
33
Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency. ( 25886835 )
2015
34
Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency. ( 25896652 )
2015
35
The use of fresh frozen plasma for reproduction in severe factor V deficiency. ( 26152018 )
2015
36
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor. ( 26346326 )
2015
37
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. ( 26550406 )
2015
38
Managing menorrhagia in a familial case of factor V deficiency. ( 25256869 )
2015
39
Congenital factor V deficiency: comparison of the severity of clinical presentations among patients with rare bleeding disorders. ( 25277779 )
2015
40
Factor v deficiency: a subtle presentation. ( 23881482 )
2014
41
Acquired factor V deficiency in a patient without evidence of a classical inhibitor. ( 24118596 )
2014
42
Cavum vergae bleed in a term neonate with severe factor V deficiency. ( 24388321 )
2014
43
Management of bleeding in severe factor V deficiency with a factor V inhibitor. ( 24517203 )
2014
44
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient. ( 24675695 )
2014
45
Public Health Problems related to factor V deficiency in southeast of Iran. ( 25250269 )
2014
46
Isolated factor V deficiency in a patient with elevated PT and aPTT during routine pre-operative laboratory screening. ( 27358851 )
2014
47
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. ( 25355838 )
2014
48
Peripartum anesthetic management of a parturient with inherited factor v deficiency. ( 25612185 )
2013
49
Successful treatment with thalidomide of a patient with congenital factor V deficiency and factor V inhibitor with recurrent gastrointestinal bleeding from small bowel arteriovenous malformations. ( 23171429 )
2013
50
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. ( 23173558 )
2013

Variations for Factor V Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 F5 p.Tyr1730Cys VAR_032700 rs118203907
2 F5 p.Arg2102Cys VAR_032701 rs118203910

ClinVar genetic disease variations for Factor V Deficiency:

6 (show top 50) (show all 277)
# Gene Variation Type Significance SNP ID Assembly Location
1 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh38 Chromosome 1, 169549811: 169549811
3 F5 F5, 4-BP DEL, EX13 deletion Pathogenic
4 F5 F5, 4-BP INS, 2805ATTG insertion Pathogenic
5 F5 F5, 8-BP DEL, NT1131 deletion Pathogenic
6 F5 NM_000130.4(F5): c.5189A> G (p.Tyr1730Cys) single nucleotide variant Pathogenic rs118203907 GRCh37 Chromosome 1, 169500043: 169500043
7 F5 NM_000130.4(F5): c.5189A> G (p.Tyr1730Cys) single nucleotide variant Pathogenic rs118203907 GRCh38 Chromosome 1, 169530805: 169530805
8 F5 NM_000130.4(F5): c.2401C> T (p.Gln801Ter) single nucleotide variant Pathogenic rs118203908 GRCh37 Chromosome 1, 169511927: 169511927
9 F5 NM_000130.4(F5): c.2401C> T (p.Gln801Ter) single nucleotide variant Pathogenic rs118203908 GRCh38 Chromosome 1, 169542689: 169542689
10 F5 NM_000130.4(F5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs118203909 GRCh37 Chromosome 1, 169510847: 169510847
11 F5 NM_000130.4(F5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs118203909 GRCh38 Chromosome 1, 169541609: 169541609
12 F5 F5, 1-BP DEL, 2952T deletion Pathogenic
13 F5 F5, 1-BP INS, 5493G insertion Pathogenic
14 F5 NM_000130.4(F5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs118203910 GRCh37 Chromosome 1, 169487691: 169487691
15 F5 NM_000130.4(F5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs118203910 GRCh38 Chromosome 1, 169518453: 169518453
16 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
17 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
18 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
19 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
20 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
21 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
22 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
23 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
24 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
25 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
26 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
27 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
28 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
29 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
30 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
31 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
32 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
33 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
34 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
35 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
36 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
37 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
38 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
39 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
40 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
41 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
42 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
43 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
44 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
45 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345
46 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh37 Chromosome 1, 169515726: 169515726
47 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh38 Chromosome 1, 169546488: 169546488
48 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh37 Chromosome 1, 169519894: 169519894
49 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh38 Chromosome 1, 169550656: 169550656
50 F5 NM_000130.4(F5): c.1238T> C (p.Met413Thr) single nucleotide variant Benign/Likely benign rs6033 GRCh37 Chromosome 1, 169521853: 169521853

Expression for Factor V Deficiency

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

Pathways for Factor V Deficiency

Pathways related to Factor V Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 F2 F3 F5 F7 F8
2
Show member pathways
12.28 F2 F3 F5 F7 F8
3
Show member pathways
11.56 F2 F3 F5 F7 F8
4
Show member pathways
11.4 F2 F7
5 11.16 F2 F3 F5 F7 F8
6 10.5 F2 F7

GO Terms for Factor V Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 F2 F3 F5 F7 F8
2 extracellular space GO:0005615 9.55 F2 F3 F5 F7 F8
3 Golgi lumen GO:0005796 9.43 F2 F7
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.4 F5 F8
5 platelet alpha granule lumen GO:0031093 9.37 F5 F8
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.32 F5 F8
7 endoplasmic reticulum lumen GO:0005788 9.26 F2 F5 F7 F8
8 serine-type peptidase complex GO:1905286 8.62 F3 F7

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.52 F5 F8
2 platelet activation GO:0030168 9.51 F2 F8
3 COPII vesicle coating GO:0048208 9.49 F5 F8
4 protein processing GO:0016485 9.48 F3 F7
5 acute-phase response GO:0006953 9.46 F2 F8
6 ER to Golgi vesicle-mediated transport GO:0006888 9.46 F2 F5 F7 F8
7 blood coagulation, intrinsic pathway GO:0007597 9.43 F2 F8
8 positive regulation of blood coagulation GO:0030194 9.4 F2 F7
9 positive regulation of positive chemotaxis GO:0050927 9.37 F3 F7
10 blood coagulation GO:0007596 9.35 F2 F3 F5 F7 F8
11 blood coagulation, extrinsic pathway GO:0007598 9.32 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.26 F3 F7
13 hemostasis GO:0007599 9.02 F2 F3 F5 F7 F8

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 F5 F8
2 serine-type endopeptidase activity GO:0004252 8.8 F2 F3 F7

Sources for Factor V Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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