FA5D
MCID: FCT006
MIFTS: 57

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 56 12 74 52 25 73 36 29 13 6 43 15 71
Parahemophilia 56 25 58 73
Labile Factor Deficiency 56 12 25
Proaccelerin Deficiency 12 25 58
Owren Disease 25 58 73
Quebec Platelet Disorder 73 71
Owren Parahemophilia 56 73
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 58
Deficiency, Factor V 39
Factor 5 Deficiency 73
Deficiency, Labile 12
Owren's Disease 25
Fa5d 73

Characteristics:

Orphanet epidemiological data:

58
congenital factor v 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:
incidence of 1 in 1,000,000
heterozygotes are usually asymptomatic


HPO:

31
factor v deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2216
OMIM 56 227400
KEGG 36 H00220
MeSH 43 D005166
NCIt 49 C98938
SNOMED-CT 67 88776002
ICD10 32 D68.2
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C0015499
Orphanet 58 ORPHA326
MedGen 41 C0015499
UMLS 71 C0015499 C1866423

Summaries for Factor V Deficiency

Genetics Home Reference : 25 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 hemophilia. 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 Metabolism of proteins. Affiliated tissues include lung, skin and whole blood, and related phenotypes are epistaxis and joint hemorrhage

NIH Rare Diseases : 52 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. This condition should not be confused with Factor V Leiden thrombophilia , a genetic risk factor for blood clots.

OMIM : 56 Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001). (227400)

KEGG : 36 Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C.

UniProtKB/Swiss-Prot : 73 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 74 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... more...

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 244)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 30.5 VWF F9 F8 F5 F3 F2
2 hemophilia 30.1 F9 F8 F7
3 hemopericardium 30.0 F3 F2
4 protein c deficiency 30.0 F9 F5 F2
5 quebec platelet disorder 29.8 F5 F10
6 prothrombin deficiency, congenital 29.7 F5 F2 F10
7 homocysteinemia 29.4 VWF F5 F2
8 protein s deficiency 29.4 F8 F5 F3 F2 F10
9 thrombophilia due to thrombin defect 29.4 F8 F5 F3 F2 F10
10 factor v and factor viii, combined deficiency of, 2 29.4 MCFD2 LMAN1 F8 F5
11 budd-chiari syndrome 29.3 F7 F5 F3 F2
12 acquired hemophilia 29.2 F9 F8 F5 F3 F10
13 purpura 29.2 VWF F3 F2
14 cardiac tamponade 28.9 F9 F8 F7 F3 F2
15 hemophilia a 28.6 VWF F9 F8 F7 F3
16 factor x deficiency 28.5 F9 F7 F5 F3 F2 F10
17 blood platelet disease 28.5 VWF F8 F7 F3 F2 F10
18 antiphospholipid syndrome 28.5 VWF F5 F3 F2 F10
19 thrombocytopenia 28.3 VWF F9 F5 F3 F2 F10
20 thrombophlebitis 28.2 VWF F8 F7 F5 F3 F2
21 stroke, ischemic 27.8 VWF F9 F7 F5 F3 F2
22 hemorrhagic disease 27.8 VWF F9 F8 F7 F5 F3
23 prothrombin deficiency 27.7 MCFD2 F9 F8 F7 F3 F2
24 pulmonary embolism 27.7 VWF F9 F8 F5 F3 F2
25 thrombosis 27.6 VWF F9 F8 F7 F5 F3
26 disseminated intravascular coagulation 27.6 VWF F9 F7 F5 F3 F2
27 thrombophilia 27.5 VWF F9 F8 F7 F5 F3
28 hemarthrosis 27.1 VWF MCFD2 F9 F8 F7 F3
29 factor v and factor viii, combined deficiency of, 1 11.7
30 factor v leiden thrombophilia 11.3
31 paracetamol poisoning 10.4 F5 F2
32 catastrophic antiphospholipid syndrome 10.4 F5 F3
33 spinal cord infarction 10.4 F5 F2
34 sudden sensorineural hearing loss 10.4 F5 F2
35 achenbach syndrome 10.4 F3 F2
36 renal pelvis squamous cell carcinoma 10.4 F3 F2
37 blue toe syndrome 10.4 F3 F2
38 arteritic anterior ischemic optic neuropathy 10.4 F5 F2
39 emphysematous cholecystitis 10.4 F3 F2
40 cryptogenic cirrhosis 10.4 F5 F2
41 femoral neuropathy 10.4 F3 F2
42 lateral sinus thrombosis 10.4 F3 F2
43 giant hemangioma 10.3 F3 F2
44 waterhouse-friderichsen syndrome 10.3 F3 F2
45 cavernous sinus thrombosis 10.3 F3 F2
46 hemopneumothorax 10.3 F3 F2
47 lemierre's syndrome 10.3 F3 F2
48 gastric hemangioma 10.3 F3 F2
49 hepatic infarction 10.3 F3 F2
50 ankylosing spondylitis 1 10.3 F3 F2

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
2 joint hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0005261
3 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
4 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
5 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
6 spontaneous hematomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0007420
7 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
8 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
9 oral cavity bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030140
10 persistent bleeding after trauma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001934
11 prolonged bleeding after dental extraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0006298
12 prolonged bleeding after surgery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004846
13 prolonged bleeding following circumcision 58 31 occasional (7.5%) Occasional (29-5%) HP:0030137
14 hemoptysis 58 31 very rare (1%) Very rare (<4-1%) HP:0002105
15 intracranial hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0002170
16 hematochezia 58 31 very rare (1%) Very rare (<4-1%) HP:0002573
17 metrorrhagia 58 31 very rare (1%) Very rare (<4-1%) HP:0100608
18 gastrointestinal hemorrhage 58 Occasional (29-5%)
19 prolonged bleeding time 31 HP:0003010
20 prolonged prothrombin time 31 HP:0008151
21 prolonged partial thromboplastin time 31 HP:0003645
22 prolonged bleeding following procedure 58 Occasional (29-5%)
23 reduced coagulation factor v activity 31 HP:0003225
24 prolonged whole-blood clotting time 31 HP:0005542

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 F10 F2 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.65 F10 F2 F3 F5 F7 F8
3 mortality/aging MP:0010768 9.28 F10 F2 F3 F5 F7 F8

Drugs & Therapeutics for Factor V Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Unknown status NCT03273998
2 Relation of 3rd Trimester Uterine Artery Doppler Flow Velocimetry Indices, Factor V Leiden Mutation and Placental Pathology to the Severity of Preeclampsia Completed NCT03871764
3 The AutoloGel™ Post-Market Surveillance (TAPS) Program Terminated NCT00762138

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 29 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

40
Lung, Skin, Whole Blood, Liver, Testes, Placenta, T Cells

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 382)
# Title Authors PMID Year
1
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. 61 6 56
11435304 2001
2
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 61 56 6
10494770 1999
3
Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. 6 56 61
9576178 1998
4
Successful excision of a pseudotumour in a congenitally factor V deficient patient. 61 56 6
9488630 1998
5
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. 6 61
12393490 2003
6
Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. 61 6
11781258 2002
7
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. 61 6
11564077 2001
8
Severe factor V deficiency presenting as subdural haematoma in the newborn. 56 61
9877047 1998
9
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency. 56 61
6480825 1984
10
Inherited factor V deficiency. Study of a Brazilian family. 56 61
6479988 1984
11
Heterogeneity of human factor V deficiency. Evidence for the existence of antigen-positive variants. 56 61
6348091 1983
12
Congenital factor V deficiency. A family study. 56 61
694421 1978
13
Hereditary labile factor (factor V) deficiency. 56 61
13702009 1961
14
Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test. 56 61
13575936 1958
15
Familial factor V deficiency: the pattern of heredity. 61 56
13194849 1954
16
Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. 6
21150787 2011
17
Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. 6
10942390 2000
18
Factor V Leiden Thrombophilia 6
20301542 1999
19
A monoclonal IgG4 (lambda) with factor V inhibitory activity. 56
109525 1979
20
Parahaemophilia; haemorrhagic diathesis due to absence of a previously unknown clotting factor. 56
20293060 1947
21
[Identification of a novel variant of F5 gene in a consanguineous pedigree affected with inherited coagulation factor V deficiency]. 61
32335873 2020
22
Thrombin generation assay is a useful pre-operative tool to predict non-bleeding risk in a patient with mild factor V deficiency. 61
32250000 2020
23
[Clinical phenotype and variantal analysis of a pedigree affected with hereditary coagulation factor V deficiency]. 61
32219828 2020
24
A Case of Acquired Factor V Deficiency in Patient with Bleeding. 61
32322782 2020
25
Profiling the mutational landscape of coagulation factor V deficiency. 61
31399523 2020
26
Haemodialysis Tunisian patient with acquired factor V inhibitor associated to arteriovenous shunt thrombosis. 61
32319951 2020
27
Coexisting Diseases in Patients with Familial Mediterranean Fever. 61
32547265 2020
28
A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient. 61
31789663 2020
29
[Successful management of acquired factor V deficiency developing shortly after induction of hemodialysis]. 61
32507806 2020
30
Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report. 61
32000417 2020
31
Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency. 61
31267299 2019
32
Elimination of hepatitis C virus infection in patients with haemophilia in Belgium: A single-centre experience. 61
31469476 2019
33
Acquired Factor V Deficiency Associated with CFPM Administration. 61
31625361 2019
34
Aortic Valve Replacement in Severe Factor V Deficiency and Inhibitor: Diagnostic and Management Challenges. 61
31788376 2019
35
On-pump CABG in a patient with severe factor V deficiency. 61
31197919 2019
36
Severe serous cavity bleeding caused by acquired factor V deficiency associated with lymphatic leakage in a hemodialysis patient: A case report. 61
31559292 2019
37
Successful management of transcatheter aortic valve implantation by platelet transfusions in a nonagenarian patient with severe autoimmune factor V deficiency. 61
30830247 2019
38
Perioperative Management of a Patient with Severe Factor V Deficiency Presenting with Chronic Subdural Hematoma: A Clinical Report. 61
30999086 2019
39
First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations. 61
31268865 2019
40
A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency. 61
31121608 2019
41
Platelet transfusion as treatment for factor V deficiency in the parturient: a case report. 61
31032969 2019
42
Challenges in management of unusual acquired factor V deficiency: A case report. 61
31027075 2019
43
Expecting the unexpected: Acquired haemophilia A in a patient with homozygous factor V deficiency. 61
30690823 2019
44
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. 61
30791524 2019
45
Factor V Deficiency with a Thrombotic Clinical Phenotype. 61
30630204 2019
46
Management of Single Uncomplicated Dental Extractions and Postoperative Bleeding Evaluation in Patients With Factor V Deficiency: A Local Antihemorrhagic Approach. 61
30012405 2018
47
"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate. 61
29578313 2018
48
Treatment tailoring for factor V deficient patients and perioperative management using global hemostatic coagulation assays. 61
29402705 2018
49
The interaction of factor V and tissue factor pathway inhibitor in a myeloma patient with acquired factor V deficiency. 61
29665188 2018
50
Acquired factor V deficiency in a patient with myeloma and amyloidosis. 61
29427868 2018

Variations for Factor V Deficiency

ClinVar genetic disease variations for Factor V Deficiency:

6 (show top 50) (show all 247) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F5 NM_000130.4(F5):c.5365C>T (p.Arg1789Ter)SNV Pathogenic 627332 1:169498900-169498900 1:169529662-169529662
2 F5 F5, 4-BP DEL, EX13deletion Pathogenic 646
3 F5 F5, 4-BP INS, 2805ATTGinsertion Pathogenic 647
4 F5 F5, 8-BP DEL, NT1131deletion Pathogenic 648
5 F5 NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys)SNV Pathogenic 649 rs118203907 1:169500043-169500043 1:169530805-169530805
6 F5 NM_000130.4(F5):c.2401C>T (p.Gln801Ter)SNV Pathogenic 650 rs118203908 1:169511927-169511927 1:169542689-169542689
7 F5 NM_000130.4(F5):c.3481C>T (p.Arg1161Ter)SNV Pathogenic 651 rs118203909 1:169510847-169510847 1:169541609-169541609
8 F5 F5, 1-BP DEL, 2952Tdeletion Pathogenic 652
9 F5 F5, 1-BP INS, 5493Ginsertion Pathogenic 653
10 F5 NM_000130.4(F5):c.6304C>T (p.Arg2102Cys)SNV Likely pathogenic 654 rs118203910 1:169487691-169487691 1:169518453-169518453
11 F5 NM_000130.5(F5):c.1601= (p.Arg534=)SNV drug response 226007 rs6025 1:169519049-169519049 1:169549811-169549811
12 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln)SNV risk factor 642 rs6025 1:169519049-169519049 1:169549811-169549811
13 F5 NM_000130.4(F5):c.3170_3174del (p.Asn1057fs)deletion Likely pathogenic 627300 1:169511154-169511158 1:169541916-169541920
14 F5 NM_000130.4(F5):c.2862del (p.Ser955fs)deletion Likely pathogenic 627051 1:169511466-169511466 1:169542228-169542228
15 F5 NM_000130.4(F5):c.2539del (p.Ile847fs)deletion Likely pathogenic 627287 1:169511789-169511789 1:169542551-169542551
16 F5 NM_000130.4(F5):c.1830_1831dup (p.His611fs)duplication Likely pathogenic 627264 1:169513677-169513678 1:169544439-169544440
17 F5 NM_000130.4(F5):c.1671G>C (p.Trp557Cys)SNV Likely pathogenic 627013 1:169515771-169515771 1:169546533-169546533
18 F5 NM_000130.4(F5):c.1498T>G (p.Cys500Gly)SNV Likely pathogenic 627004 1:169519152-169519152 1:169549914-169549914
19 F5 NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)SNV Likely pathogenic 666966 1:169515768-169515768 1:169546530-169546530
20 F5 NM_000130.4(F5):c.1297-2A>GSNV Likely pathogenic 627222 1:169519979-169519979 1:169550741-169550741
21 F5 NM_000130.4(F5):c.5408A>G (p.His1803Arg)SNV Likely pathogenic 627181 1:169498857-169498857 1:169529619-169529619
22 F5 NM_000130.4(F5):c.2218C>T (p.Arg740Ter)SNV Likely pathogenic 293622 rs757953549 1:169512110-169512110 1:169542872-169542872
23 F5 NM_000130.4(F5):c.5054C>G (p.Thr1685Ser)SNV Conflicting interpretations of pathogenicity 293590 rs6011 1:169500178-169500178 1:169530940-169530940
24 F5 NM_000130.4(F5):c.4405T>C (p.Ser1469Pro)SNV Conflicting interpretations of pathogenicity 293595 rs144262027 1:169509923-169509923 1:169540685-169540685
25 F5 NM_000130.4(F5):c.3851C>T (p.Thr1284Ile)SNV Conflicting interpretations of pathogenicity 293603 rs139573207 1:169510477-169510477 1:169541239-169541239
26 F5 NM_000130.4(F5):c.885C>T (p.Thr295=)SNV Conflicting interpretations of pathogenicity 293635 rs148752831 1:169525951-169525951 1:169556713-169556713
27 F5 NM_000130.4(F5):c.*476C>TSNV Conflicting interpretations of pathogenicity 293561 rs72708017 1:169483075-169483075 1:169513837-169513837
28 F5 NM_000130.4(F5):c.6309G>A (p.Leu2103=)SNV Conflicting interpretations of pathogenicity 293575 rs35369423 1:169487686-169487686 1:169518448-169518448
29 F5 NM_000130.4(F5):c.5788+4A>TSNV Conflicting interpretations of pathogenicity 293577 rs759428783 1:169494071-169494071 1:169524833-169524833
30 F5 NM_000130.4(F5):c.4035A>G (p.Gln1345=)SNV Conflicting interpretations of pathogenicity 293601 rs886045547 1:169510293-169510293 1:169541055-169541055
31 F5 NM_000130.4(F5):c.2868T>C (p.Tyr956=)SNV Conflicting interpretations of pathogenicity 293617 rs149067268 1:169511460-169511460 1:169542222-169542222
32 F5 NM_000130.4(F5):c.*1290G>ASNV Conflicting interpretations of pathogenicity 293550 rs9332677 1:169482261-169482261 1:169513023-169513023
33 F5 NM_000130.4(F5):c.*838T>CSNV Conflicting interpretations of pathogenicity 293557 rs376103455 1:169482713-169482713 1:169513475-169513475
34 F5 NM_000130.4(F5):c.*581C>ASNV Conflicting interpretations of pathogenicity 293560 rs180742904 1:169482970-169482970 1:169513732-169513732
35 F5 NM_000130.4(F5):c.5558G>T (p.Gly1853Val)SNV Conflicting interpretations of pathogenicity 293580 rs182566496 1:169497194-169497194 1:169527956-169527956
36 F5 NM_000130.4(F5):c.3402C>A (p.Asp1134Glu)SNV Conflicting interpretations of pathogenicity 293609 rs373880789 1:169510926-169510926 1:169541688-169541688
37 F5 NM_000130.5(F5):c.2241_2243AGA[2] (p.Glu750del)short repeat Conflicting interpretations of pathogenicity 293620 rs575766548 1:169512079-169512081 1:169542841-169542843
38 F5 NM_000130.4(F5):c.1391C>T (p.Thr464Ile)SNV Conflicting interpretations of pathogenicity 293629 rs141768227 1:169519883-169519883 1:169550645-169550645
39 F5 NM_000130.4(F5):c.2906A>G (p.Asn969Ser)SNV Conflicting interpretations of pathogenicity 293616 rs9332604 1:169511422-169511422 1:169542184-169542184
40 F5 NM_000130.4(F5):c.524A>G (p.His175Arg)SNV Conflicting interpretations of pathogenicity 293639 rs201510575 1:169529854-169529854 1:169560616-169560616
41 F5 NM_000130.4(F5):c.165T>C (p.Asn55=)SNV Conflicting interpretations of pathogenicity 293641 rs781434840 1:169551754-169551754 1:169582516-169582516
42 F5 NM_000130.4(F5):c.2222A>G (p.Asn741Ser)SNV Conflicting interpretations of pathogenicity 293621 rs144979314 1:169512106-169512106 1:169542868-169542868
43 F5 NM_000130.4(F5):c.5646G>A (p.Trp1882Ter)SNV Conflicting interpretations of pathogenicity 632086 rs1557908012 1:169495209-169495209 1:169525971-169525971
44 F5 NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)SNV Conflicting interpretations of pathogenicity 787578 1:169509739-169509739 1:169540501-169540501
45 F5 NM_000130.5(F5):c.5245C>G (p.Leu1749Val)SNV Conflicting interpretations of pathogenicity 713561 1:169499020-169499020 1:169529782-169529782
46 F5 NM_000130.5(F5):c.3845A>G (p.His1282Arg)SNV Conflicting interpretations of pathogenicity 716053 1:169510483-169510483 1:169541245-169541245
47 F5 NM_000130.4(F5):c.1321C>T (p.Arg441Cys)SNV Conflicting interpretations of pathogenicity 627229 rs747006175 1:169519953-169519953 1:169550715-169550715
48 F5 NM_000130.4(F5):c.911G>A (p.Gly304Glu)SNV Conflicting interpretations of pathogenicity 627404 1:169525925-169525925 1:169556687-169556687
49 F5 NM_000130.5(F5):c.*2037G>ASNV Conflicting interpretations of pathogenicity 877040 1:169481514-169481514 1:169512276-169512276
50 F5 NM_000130.4(F5):c.*1488T>CSNV Conflicting interpretations of pathogenicity 293547 rs75764442 1:169482063-169482063 1:169512825-169512825

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

73
# Symbol AA change Variation ID SNP ID
1 F5 p.Tyr1730Cys VAR_032700 rs118203907
2 F5 p.Arg2102Cys VAR_032701 rs118203910

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
13.43 MCFD2 LMAN1 F9 F8 F7 F5
2
Show member pathways
13 VWF F9 F8 F7 F5 F3
3
Show member pathways
12.53 F9 F8 F7 F5 F3 F2
4
Show member pathways
11.76 VWF F9 F8 F7 F5 F3
5
Show member pathways
11.7 F9 F7 F2 F10
6 11.44 VWF LMAN1 F9 F8 F7 F5
7 10.63 F9 F7 F2 F10

GO Terms for Factor V Deficiency

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.03 VWF F9 F8 F7 F5 F3
2 extracellular space GO:0005615 10.02 F9 F8 F7 F5 F3 F2
3 platelet alpha granule lumen GO:0031093 9.63 VWF F8 F5
4 Golgi lumen GO:0005796 9.56 F9 F7 F2 F10
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.54 LMAN1 F8 F5
6 platelet alpha granule GO:0031091 9.49 VWF F5
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 MCFD2 LMAN1 F8 F5
8 collagen-containing extracellular matrix GO:0062023 9.43 VWF LMAN1 F9 F7 F3 F2
9 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
10 serine-type peptidase complex GO:1905286 9.32 F7 F3
11 endoplasmic reticulum lumen GO:0005788 9.1 F9 F8 F7 F5 F2 F10

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.76 MCFD2 LMAN1 F9 F8 F7 F5
2 positive regulation of protein kinase B signaling GO:0051897 9.69 F7 F3 F10
3 platelet degranulation GO:0002576 9.67 VWF F8 F5
4 COPII vesicle coating GO:0048208 9.67 MCFD2 LMAN1 F8 F5
5 platelet activation GO:0030168 9.63 VWF F8 F2
6 blood coagulation, intrinsic pathway GO:0007597 9.56 VWF F9 F8 F2
7 hemostasis GO:0007599 9.56 VWF F9 F8 F7 F5 F3
8 acute-phase response GO:0006953 9.54 F8 F2
9 protein N-linked glycosylation via asparagine GO:0018279 9.52 MCFD2 LMAN1
10 blood coagulation, extrinsic pathway GO:0007598 9.5 F7 F3 F10
11 positive regulation of blood coagulation GO:0030194 9.48 F7 F2
12 positive regulation of positive chemotaxis GO:0050927 9.43 F7 F3
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
14 blood coagulation GO:0007596 9.28 VWF LMAN1 F9 F8 F7 F5

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 9.56 F9 F7 F2 F10
2 calcium ion binding GO:0005509 9.55 MCFD2 F9 F7 F2 F10
3 serine-type peptidase activity GO:0008236 9.26 F9 F7 F2 F10
4 serine-type endopeptidase activity GO:0004252 9.02 F9 F7 F3 F2 F10

Sources for Factor V 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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