MCID: FCT006
MIFTS: 52

Factor V Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor V Deficiency

MalaCards integrated aliases for Factor V Deficiency:

Name: Factor V Deficiency 53 12 72 49 24 71 36 28 13 41 14 69
Parahemophilia 53 24 55 71
Labile Factor Deficiency 53 12 24
Proaccelerin Deficiency 12 24 55
Owren Disease 24 55 71
Quebec Platelet Disorder 71 69
Owren Parahemophilia 53 71
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 55
Factor 5 Deficiency 71
Deficiency, Labile 12
Owren's Disease 24
Fa5d 71

Characteristics:

Orphanet epidemiological data:

55
congenital factor v deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
factor v deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 227400
Disease Ontology 12 DOID:2216
ICD10 32 D68.2
MeSH 41 D005166
NCIt 46 C98938
Orphanet 55 ORPHA326
UMLS via Orphanet 70 C0015499
ICD10 via Orphanet 33 D68.2
MedGen 39 C0015499
KEGG 36 H00220
UMLS 69 C0015499

Summaries for Factor V Deficiency

Genetics Home Reference : 24 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 quebec platelet disorder and factor v and factor viii, combined deficiency of, 2, and has symptoms including epistaxis, bruising susceptibility and prolonged bleeding time. 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 whole blood, and related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

NIH Rare Diseases : 49 Factor V deficiency is an inheritedblood disorder that causes abnormal blood clotting (coagulation). 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.  Last updated: 4/17/2017

Wikipedia : 72 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 150)
# Related Disease Score Top Affiliating Genes
1 quebec platelet disorder 34.5 F5 PLAU
2 factor v and factor viii, combined deficiency of, 2 31.9 F5 F8
3 blood platelet disease 30.3 F2 F3 F8
4 thrombophilia due to activated protein c resistance 30.3 F2 F3 F5 F8 F9
5 thrombophlebitis 29.1 F2 F5 F8
6 thrombosis 29.1 F2 F3 F5 F9
7 cardiac tamponade 29.0 F2 F8 F9
8 hemophilia 27.9 F2 F3 F7 F8 F9
9 hemorrhagic disease 27.8 F2 F3 F5 F7 F8 F9
10 factor v and factor viii, combined deficiency of, 1 11.1
11 catastrophic antiphospholipid syndrome 10.3 F3 F5
12 paracetamol poisoning 10.3 F2 F5
13 spinal cord infarction 10.3 F2 F5
14 livedoid vasculopathy 10.3 F2 F5
15 sudden sensorineural hearing loss 10.3 F2 F5
16 hemoglobin e disease 10.3 F2 F5
17 prothrombin deficiency, congenital 10.3 F2 F5
18 ischemic colitis 10.3 F2 F5
19 cryptogenic cirrhosis 10.3 F2 F5
20 cerebral falx meningioma 10.3 F2 F3
21 sneddon syndrome 10.3 F2 F5
22 intestinal impaction 10.3 F2 F3
23 porencephaly 10.2 F2 F5
24 leech infestation 10.2 F2 F3
25 qualitative platelet defect 10.2 F2 F3
26 giant hemangioma 10.2 F2 F3
27 retinal vascular occlusion 10.2 F2 F5
28 blue toe syndrome 10.2 F2 F3
29 intracranial embolism 10.2 F2 F3
30 femoral neuropathy 10.2 F2 F3
31 antithrombin iii deficiency 10.2 F2 F5
32 hantavirus pulmonary syndrome 10.2 F2 F3
33 marantic endocarditis 10.2 F2 F3
34 central retinal vein occlusion 10.2 F2 F5
35 splenic disease 10.2 F2 F3
36 purpura fulminans 10.2 F2 F3
37 korean hemorrhagic fever 10.2 F2 F3
38 placenta disease 10.2 F3 F5
39 hepatic infarction 10.2 F2 F3
40 scott syndrome 10.2 F2 F5
41 squamous cell papilloma 10.2 F2 F3
42 hemorrhagic fever 10.2 F2 F3
43 arteritic anterior ischemic optic neuropathy 10.2 F2 F5
44 branch retinal artery occlusion 10.2 F2 F3
45 dysfibrinogenemia 10.2 F2 F5
46 analbuminemia 10.2 F2 F3
47 acute liver failure 10.2 F2 F5
48 endocardium disease 10.2 F2 F3
49 placental abruption 10.2 F2 F5
50 ischemic optic neuropathy 10.2 F2 F5

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



Diseases related to Factor V Deficiency

Symptoms & Phenotypes for Factor V Deficiency

Symptoms via clinical synopsis from OMIM:

53
Hematology:
bleeding episodes (epistaxis, menorrhagia, ecchymosis)
factor v deficiency
prolonged bleeding

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


Clinical features from OMIM:

227400

Human phenotypes related to Factor V Deficiency:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 prolonged bleeding time 31 HP:0003010
4 menorrhagia 31 HP:0000132
5 prolonged partial thromboplastin time 31 HP:0003645
6 prolonged prothrombin time 31 HP:0008151
7 prolonged whole-blood clotting time 31 HP:0005542
8 reduced factor v activity 31 HP:0003225

MGI Mouse Phenotypes related to Factor V Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 F2 F3 F5 F7 F9 PLAU
2 homeostasis/metabolism MP:0005376 9.5 F2 F3 F5 F7 F8 F9
3 mortality/aging MP:0010768 9.17 F7 F8 F9 PLAU F2 F3

Drugs & Therapeutics for Factor V Deficiency

Search Clinical Trials , 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 28 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

38
Lung, Skin, Whole Blood, Testes, Liver, Placenta

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 192)
# Title Authors Year
1
Management of intracranial hemorrhage in severe factor V deficiency and definitive treatment with liver transplantation. ( 29250911 )
2018
2
Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria. ( 29105952 )
2018
3
Acquired factor V deficiency in a patient with myeloma and amyloidosis. ( 29427868 )
2018
4
A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation. ( 28503128 )
2017
5
Major bleeding as spontaneous haemoperitoneum in a patient with factor V deficiency. ( 28111894 )
2017
6
Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran in the recent ten years experience. ( 28270373 )
2017
7
Haemoperitoneum due to ruptured ovarian cyst in a 13-year-old girl with factor V deficiency- A case report. ( 28138193 )
2017
8
Successful coronary stenting in a patient with factor V deficiency in the absence of fresh frozen plasma transfusion: Case report. ( 29390379 )
2017
9
Comment on transfusion management of Factor V deficiency. ( 27933625 )
2016
10
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 )
2016
11
Transient Factor V deficiency associated with Factor V-immunoglobulin complexes but without evidence of a classical inhibitor. ( 27664390 )
2016
12
Hip Replacement Surgery in 14-Year-Old Girl with Factor V Deficiency: Haemostatic Treatment and Thromboprophylaxis. ( 27872768 )
2016
13
Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome. ( 26839474 )
2016
14
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. ( 26980222 )
2016
15
Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V. ( 27444974 )
2016
16
Transfusion management of factor V deficiency: three case reports and review of the literature. ( 27125565 )
2016
17
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients. ( 26709270 )
2016
18
Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency. ( 25886835 )
2015
19
Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients. ( 25854415 )
2015
20
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. ( 25470420 )
2015
21
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. ( 26550406 )
2015
22
Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency. ( 25896652 )
2015
23
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. ( 25438872 )
2015
24
The use of fresh frozen plasma for reproduction in severe factor V deficiency. ( 26152018 )
2015
25
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor. ( 26346326 )
2015
26
Public Health Problems related to factor V deficiency in southeast of Iran. ( 25250269 )
2014
27
Managing Menorrhagia in a Familial Case of Factor V Deficiency. ( 25256869 )
2014
28
Acquired factor V deficiency in a patient without evidence of a classical inhibitor. ( 24118596 )
2014
29
Congenital Factor V Deficiency: Comparison of the Severity of Clinical Presentations among Patients with Rare Bleeding Disorders. ( 25277779 )
2014
30
Management of bleeding in severe factor V deficiency with a factor V inhibitor. ( 24517203 )
2014
31
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient. ( 24675695 )
2014
32
Factor V Deficiency: A Subtle Presentation. ( 23881482 )
2013
33
Cavum Vergae Bleed in a Term Neonate with Severe Factor V Deficiency. ( 24388321 )
2013
34
Parahemophilia: new insights into factor v deficiency. ( 23893775 )
2013
35
Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation. ( 24085767 )
2013
36
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
37
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. ( 23746195 )
2013
38
Factor v deficiency associated with congenital cardiac disorder and intracranial hemorrage. ( 24426348 )
2013
39
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. ( 23173558 )
2013
40
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. ( 23616041 )
2013
41
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency. ( 23662219 )
2013
42
Peripartum anesthetic management of a parturient with inherited factor v deficiency. ( 25612185 )
2013
43
Acquired factor V deficiency and mini literature review. ( 21910794 )
2012
44
Platelet factor V levels in moderate to severe congenital factor V deficiency. ( 22176589 )
2012
45
Severe factor V deficiency in two brothers with different clinical presentations. ( 22758216 )
2012
46
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. ( 21777354 )
2012
47
Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation. ( 21647534 )
2011
48
Successful mitral valve repair in a patient with factor V deficiency. ( 20695908 )
2011
49
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. ( 21669355 )
2011
50
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. ( 21320286 )
2011

Variations for Factor V Deficiency

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

71
# 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 all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLAU NC_000010.11: g.73899258_73977195dup77938 duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant Pathogenic,risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
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.2401C> T (p.Gln801Ter) single nucleotide variant Pathogenic rs118203908 GRCh37 Chromosome 1, 169511927: 169511927
8 F5 NM_000130.4(F5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs118203909 GRCh37 Chromosome 1, 169510847: 169510847
9 F5 F5, 1-BP DEL, 2952T deletion Pathogenic
10 F5 F5, 1-BP INS, 5493G insertion Pathogenic
11 F5 NM_000130.4(F5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs118203910 GRCh37 Chromosome 1, 169487691: 169487691
12 F5 NM_000130.4(F5): c.2218C> T (p.Arg740Ter) single nucleotide variant Likely pathogenic rs757953549 GRCh37 Chromosome 1, 169512110: 169512110

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:

36
# 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
12.88 F2 F3 F5 F7 F8 F9
2
Show member pathways
12.35 F2 F3 F5 F7 F8 F9
3
Show member pathways
11.7 F2 F3 F5 F7 F8 F9
4
Show member pathways
11.58 F2 F7 F9
5 11.31 F2 F3 F5 F7 F8 F9
6 10.67 F2 F7 F9

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 plasma membrane GO:0005886 9.91 F2 F3 F5 F7 F8 F9
2 extracellular region GO:0005576 9.7 F2 F3 F5 F7 F8 F9
3 Golgi lumen GO:0005796 9.5 F2 F7 F9
4 extracellular space GO:0005615 9.5 F2 F3 F5 F7 F8 F9
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 F5 F8
6 platelet alpha granule lumen GO:0031093 9.43 F5 F8
7 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
8 serine-type peptidase complex GO:1905286 9.26 F3 F7
9 endoplasmic reticulum lumen GO:0005788 9.02 F2 F5 F7 F8 F9

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.83 F2 F7 F9 PLAU
2 positive regulation of cell migration GO:0030335 9.69 F3 F7 PLAU
3 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F2 F5 F7 F8 F9
4 signal peptide processing GO:0006465 9.58 F2 F7 F9
5 COPII vesicle coating GO:0048208 9.56 F5 F8
6 protein processing GO:0016485 9.55 F3 F7
7 acute-phase response GO:0006953 9.54 F2 F8
8 blood coagulation, intrinsic pathway GO:0007597 9.54 F2 F8 F9
9 peptidyl-glutamic acid carboxylation GO:0017187 9.5 F2 F7 F9
10 blood coagulation GO:0007596 9.5 F2 F3 F5 F7 F8 F9
11 fibrinolysis GO:0042730 9.49 F2 PLAU
12 positive regulation of blood coagulation GO:0030194 9.48 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.46 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F3 F7
15 blood coagulation, extrinsic pathway GO:0007598 9.33 F3 F7 F9
16 hemostasis GO:0007599 9.17 F2 F3 F5 F7 F8 F9

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.46 F2 F7 F9 PLAU
2 copper ion binding GO:0005507 9.26 F5 F8
3 serine-type peptidase activity GO:0008236 9.26 F2 F7 F9 PLAU
4 serine-type endopeptidase activity GO:0004252 9.02 F2 F3 F7 F9 PLAU

Sources for Factor V Deficiency

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