FA5D
MCID: FCT006
MIFTS: 55

Factor V Deficiency (FA5D)

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

Aliases & Classifications for Factor V Deficiency

MalaCards integrated aliases for Factor V Deficiency:

Name: Factor V Deficiency 57 12 73 20 43 72 36 29 13 6 44 15 70
Parahemophilia 57 43 58 72
Labile Factor Deficiency 57 12 43
Proaccelerin Deficiency 12 43 58
Owren Disease 43 58 72
Quebec Platelet Disorder 72 70
Owren Parahemophilia 57 72
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 58
Deficiency, Factor V 39
Factor 5 Deficiency 72
Deficiency, Labile 12
Owren's Disease 43
Fa5d 72

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®:

57 (Updated 20-May-2021)
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® 57 227400
KEGG 36 H00220
MeSH 44 D005166
NCIt 50 C98938
SNOMED-CT 67 191284007
ICD10 32 D68.2
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0015499
Orphanet 58 ORPHA326
MedGen 41 C0015499
UMLS 70 C0015499 C1866423

Summaries for Factor V Deficiency

MedlinePlus Genetics : 43 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 factor v and factor viii, combined deficiency of, 1 and thrombophilia due to activated protein c resistance. 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 heart, placenta and whole blood, and related phenotypes are epistaxis and joint hemorrhage

GARD : 20 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® : 57 Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001). (227400) (Updated 20-May-2021)

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 : 72 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 73 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 245)
# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 1 31.6 MCFD2 LMAN1
2 thrombophilia due to activated protein c resistance 30.9 VWF F8 F5 F3 F2 F10
3 hemophilia 30.3 F9 F8 F7
4 protein c deficiency 30.1 F9 F5 F2
5 purpura 30.0 VWF F3 F2
6 homocysteinemia 30.0 VWF F5 F2
7 hemopericardium 29.9 F9 F3 F2
8 blood platelet disease 29.9 VWF F8 F7 F3 F2 F10
9 quebec platelet disorder 29.8 F5 F10
10 prothrombin deficiency, congenital 29.8 F5 F2 F10
11 protein s deficiency 29.8 F5 F3 F2 F10
12 acquired hemophilia 29.7 F9 F8 F5 F3 F10
13 budd-chiari syndrome 29.5 F7 F5 F3 F2
14 factor v and factor viii, combined deficiency of, 2 29.5 MCFD2 LMAN1 F8 F5
15 cardiac tamponade 29.2 F9 F8 F7 F3 F2
16 antiphospholipid syndrome 29.2 VWF F5 F3 F2 F10
17 hemophilia a 29.1 VWF F9 F8 F7 F5 F3
18 thrombophlebitis 29.0 VWF F8 F7 F5 F3 F2
19 factor x deficiency 28.9 F9 F7 F5 F3 F2 F10
20 thrombophilia due to thrombin defect 28.8 VWF F8 F5 F3 F2 F10
21 thrombosis 28.5 VWF F9 F8 F7 F5 F3
22 disseminated intravascular coagulation 28.5 VWF F9 F7 F5 F3 F2
23 stroke, ischemic 28.5 VWF F9 F7 F5 F3 F2
24 thrombophilia 28.4 VWF F9 F8 F7 F5 F3
25 prothrombin deficiency 28.2 MCFD2 F9 F8 F7 F3 F2
26 hemarthrosis 28.1 VWF MCFD2 F9 F8 F7 F3
27 hemorrhagic disease 28.0 VWF MCFD2 F9 F8 F7 F5
28 thrombocytopenia 27.7 VWF MCFD2 F9 F8 F7 F5
29 factor viii deficiency 27.4 VWF MCFD2 LMAN1 F9 F8 F7
30 factor v leiden thrombophilia 11.1
31 rare hemorrhagic disorder 10.4
32 rare coagulation disorder 10.3
33 catastrophic antiphospholipid syndrome 10.3 F5 F3
34 paracetamol poisoning 10.3 F5 F2
35 spinal cord infarction 10.3 F5 F2
36 aspirin resistance 10.3 F5 F2
37 achenbach syndrome 10.3 F3 F2
38 sudden sensorineural hearing loss 10.3 F5 F2
39 renal pelvis squamous cell carcinoma 10.3 F3 F2
40 femoral neuropathy 10.3 F3 F2
41 emphysematous cholecystitis 10.3 F3 F2
42 giant hemangioma 10.3 F3 F2
43 hemopneumothorax 10.3 F3 F2
44 ebola hemorrhagic fever 10.3 F5 F3
45 cerebral falx meningioma 10.3 F3 F2
46 ankylosing spondylitis 1 10.3 F3 F2
47 waterhouse-friderichsen syndrome 10.3 F3 F2
48 pulmonary embolism and infarction 10.3 F3 F2
49 acute pulmonary heart disease 10.3 F3 F2
50 arteritic anterior ischemic optic neuropathy 10.3 F5 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 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
4 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Factor V Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 F10 F2 F3 F5 F7 F8
2 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 Relation of 3rd Trimester Uterine Artery Doppler Flow Velocimetry Indices, Factor V Leiden Mutation and Placental Pathology to the Severity of 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 29 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

40
Heart, Placenta, Whole Blood, Liver, Spinal Cord, Thyroid, Breast

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 415)
# Title Authors PMID Year
1
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. 6 57 61
11435304 2001
2
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 6 57 61
10494770 1999
3
Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. 61 6 57
9576178 1998
4
Successful excision of a pseudotumour in a congenitally factor V deficient patient. 61 6 57
9488630 1998
5
A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V. 6 61
20735394 2010
6
A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. 6 61
16476093 2006
7
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
8
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
9
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. 6 61
11564077 2001
10
A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. 61 6
11418372 2001
11
Severe factor V deficiency presenting as subdural haematoma in the newborn. 57 61
9877047 1998
12
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency. 57 61
6480825 1984
13
Inherited factor V deficiency. Study of a Brazilian family. 57 61
6479988 1984
14
Heterogeneity of human factor V deficiency. Evidence for the existence of antigen-positive variants. 57 61
6348091 1983
15
Congenital factor V deficiency. A family study. 57 61
694421 1978
16
Hereditary labile factor (factor V) deficiency. 61 57
13702009 1961
17
Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test. 61 57
13575936 1958
18
Familial factor V deficiency: the pattern of heredity. 61 57
13194849 1954
19
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
20
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
21
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. 6
26251307 2015
22
Cerebrovascular Aneurysms May Be Associated with Thrombophilia-predisposing Mutations in Patients with Familial Risk. 6
25977387 2015
23
Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation. 6
23677252 2014
24
Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. 6
23900608 2013
25
Risk of venous thromboembolism and myocardial infarction associated with factor V Leiden and prothrombin mutations and blood type. 6
23382263 2013
26
Thrombomodulin-dependent effect of factor VLeiden mutation on factor XIII activation. 6
21774968 2012
27
Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes. 6
22044617 2012
28
Factor V Leiden thrombophilia. 6
21116184 2011
29
The R306G and R506Q mutations in coagulation Factor V reveals additional cleavage sites for Activated Protein C in the R313-R321 region and at R505. 6
20051284 2010
30
The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. 6
19652888 2009
31
Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 6
16931580 2006
32
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. 6
12816860 2003
33
Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. 6
12421138 2002
34
Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses. 6
12070000 2002
35
Spontaneous thrombosis in mice carrying the factor V Leiden mutation. 6
11110695 2000
36
Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. 6
10942390 2000
37
A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject. 6
9694743 1998
38
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 6
7911872 1994
39
Mutation in blood coagulation factor V associated with resistance to activated protein C. 6
8164741 1994
40
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 6
7910348 1994
41
A monoclonal IgG4 (lambda) with factor V inhibitory activity. 57
109525 1979
42
Parahaemophilia; haemorrhagic diathesis due to absence of a previously unknown clotting factor. 57
20293060 1947
43
Persistent hiccups in a patient with mild congenital factor V deficiency and COVID-19; clinical and laboratory finding of a rare bleeding disorder. 61
33174336 2021
44
Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency. 61
33769317 2021
45
A case of mitral valve repair complicated by acquired factor V deficiency. 61
33743135 2021
46
A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V deficiency. 61
33443922 2021
47
Factor V Deficiency (Owren's Disease) in a Patient at High Risk for Transfusion-Associated Circulatory Overload and Bleeding During Laser Lead Extraction. 61
33744111 2021
48
Plasma Exchange as an Initial Treatment for Severe Bleeding Induced by Acquired Factor V Deficiency: A Case Report and Mini Literature Review. 61
32784304 2021
49
Autoimmune Factor V Deficiency That Took 16 Years to Diagnose due to Pseudodeficiency of Multiple Coagulation Factors. 61
33505468 2021
50
Mining of mortality-related findings in rare bleeding disorders: a retrospective study from two centers. 61
33232939 2020

Variations for Factor V Deficiency

ClinVar genetic disease variations for Factor V Deficiency:

6 (show top 50) (show all 251)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV Pathogenic, risk factor 642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
2 F5 NM_000130.5(F5):c.4096del (p.Leu1366fs) Deletion Pathogenic 978216 GRCh37: 1:169510232-169510232
GRCh38: 1:169540994-169540994
3 F5 NM_000130.5(F5):c.1976-1G>A SNV Pathogenic 1031413 GRCh37: 1:169512353-169512353
GRCh38: 1:169543115-169543115
4 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV Pathogenic 642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
5 F5 NM_000130.4(F5):c.5365C>T (p.Arg1789Ter) SNV Pathogenic 627332 rs201790842 GRCh37: 1:169498900-169498900
GRCh38: 1:169529662-169529662
6 F5 F5, 4-BP DEL, EX13 Deletion Pathogenic 646 GRCh37:
GRCh38:
7 F5 F5, 4-BP INS, 2805ATTG Insertion Pathogenic 647 GRCh37:
GRCh38:
8 F5 F5, 8-BP DEL, NT1131 Deletion Pathogenic 648 GRCh37:
GRCh38:
9 F5 NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) SNV Pathogenic 649 rs118203907 GRCh37: 1:169500043-169500043
GRCh38: 1:169530805-169530805
10 F5 NM_000130.4(F5):c.2401C>T (p.Gln801Ter) SNV Pathogenic 650 rs118203908 GRCh37: 1:169511927-169511927
GRCh38: 1:169542689-169542689
11 F5 NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) SNV Pathogenic 651 rs118203909 GRCh37: 1:169510847-169510847
GRCh38: 1:169541609-169541609
12 F5 F5, 1-BP DEL, 2952T Deletion Pathogenic 652 GRCh37:
GRCh38:
13 F5 F5, 1-BP INS, 5493G Insertion Pathogenic 653 GRCh37:
GRCh38:
14 F5 NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) SNV Likely pathogenic 654 rs118203910 GRCh37: 1:169487691-169487691
GRCh38: 1:169518453-169518453
15 F5 NM_000130.4(F5):c.2218C>T (p.Arg740Ter) SNV Likely pathogenic 293622 rs757953549 GRCh37: 1:169512110-169512110
GRCh38: 1:169542872-169542872
16 F5 NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) SNV Likely pathogenic 666966 rs905672088 GRCh37: 1:169515768-169515768
GRCh38: 1:169546530-169546530
17 F5 NM_000130.4(F5):c.1498T>G (p.Cys500Gly) SNV Likely pathogenic 627004 rs1571581722 GRCh37: 1:169519152-169519152
GRCh38: 1:169549914-169549914
18 F5 NM_000130.4(F5):c.1671G>C (p.Trp557Cys) SNV Likely pathogenic 627013 rs1571578995 GRCh37: 1:169515771-169515771
GRCh38: 1:169546533-169546533
19 F5 NM_000130.4(F5):c.2862del (p.Ser955fs) Deletion Likely pathogenic 627051 rs765982916 GRCh37: 1:169511466-169511466
GRCh38: 1:169542228-169542228
20 F5 NM_000130.4(F5):c.5408A>G (p.His1803Arg) SNV Likely pathogenic 627181 rs754104059 GRCh37: 1:169498857-169498857
GRCh38: 1:169529619-169529619
21 F5 NM_000130.4(F5):c.1297-2A>G SNV Likely pathogenic 627222 rs762646464 GRCh37: 1:169519979-169519979
GRCh38: 1:169550741-169550741
22 F5 NM_000130.4(F5):c.1830_1831dup (p.His611fs) Duplication Likely pathogenic 627264 rs1571577365 GRCh37: 1:169513677-169513678
GRCh38: 1:169544439-169544440
23 F5 NM_000130.4(F5):c.2539del (p.Ile847fs) Deletion Likely pathogenic 627287 rs1571575520 GRCh37: 1:169511789-169511789
GRCh38: 1:169542551-169542551
24 F5 NM_000130.4(F5):c.3170_3174del (p.Asn1057fs) Deletion Likely pathogenic 627300 rs1571574574 GRCh37: 1:169511154-169511158
GRCh38: 1:169541916-169541920
25 F5 NM_000130.4(F5):c.911G>A (p.Gly304Glu) SNV Likely pathogenic 627404 rs865947251 GRCh37: 1:169525925-169525925
GRCh38: 1:169556687-169556687
26 F5 NM_000130.4(F5):c.1321C>T (p.Arg441Cys) SNV Conflicting interpretations of pathogenicity 627229 rs747006175 GRCh37: 1:169519953-169519953
GRCh38: 1:169550715-169550715
27 F5 NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) SNV Conflicting interpretations of pathogenicity 293595 rs144262027 GRCh37: 1:169509923-169509923
GRCh38: 1:169540685-169540685
28 F5 NM_000130.4(F5):c.5788+4A>T SNV Conflicting interpretations of pathogenicity 293577 rs759428783 GRCh37: 1:169494071-169494071
GRCh38: 1:169524833-169524833
29 F5 NM_000130.4(F5):c.524A>G (p.His175Arg) SNV Conflicting interpretations of pathogenicity 293639 rs201510575 GRCh37: 1:169529854-169529854
GRCh38: 1:169560616-169560616
30 F5 NM_000130.4(F5):c.2222A>G (p.Asn741Ser) SNV Conflicting interpretations of pathogenicity 293621 rs144979314 GRCh37: 1:169512106-169512106
GRCh38: 1:169542868-169542868
31 F5 NM_000130.4(F5):c.4035A>G (p.Gln1345=) SNV Conflicting interpretations of pathogenicity 293601 rs886045547 GRCh37: 1:169510293-169510293
GRCh38: 1:169541055-169541055
32 F5 NM_000130.4(F5):c.5490G>A (p.Leu1830=) SNV Conflicting interpretations of pathogenicity 293582 rs149092241 GRCh37: 1:169497262-169497262
GRCh38: 1:169528024-169528024
33 F5 NM_000130.5(F5):c.3845A>G (p.His1282Arg) SNV Conflicting interpretations of pathogenicity 716053 rs143333036 GRCh37: 1:169510483-169510483
GRCh38: 1:169541245-169541245
34 F5 NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) SNV Conflicting interpretations of pathogenicity 787578 rs6007 GRCh37: 1:169509739-169509739
GRCh38: 1:169540501-169540501
35 F5 NM_000130.5(F5):c.2241_2243AGA[2] (p.Glu750del) Microsatellite Conflicting interpretations of pathogenicity 293620 rs575766548 GRCh37: 1:169512079-169512081
GRCh38: 1:169542841-169542843
36 F5 NM_000130.4(F5):c.*1432C>T SNV Uncertain significance 293549 rs886045536 GRCh37: 1:169482119-169482119
GRCh38: 1:169512881-169512881
37 F5 NM_000130.4(F5):c.773T>C (p.Leu258Pro) SNV Uncertain significance 627377 rs975505802 GRCh37: 1:169526063-169526063
GRCh38: 1:169556825-169556825
38 F5 NM_000130.5(F5):c.1340C>G (p.Pro447Arg) SNV Uncertain significance 873575 GRCh37: 1:169519934-169519934
GRCh38: 1:169550696-169550696
39 F5 NM_000130.5(F5):c.1033C>T (p.Arg345Trp) SNV Uncertain significance 874622 GRCh37: 1:169524505-169524505
GRCh38: 1:169555267-169555267
40 F5 NM_000130.5(F5):c.1021C>T (p.Arg341Cys) SNV Uncertain significance 874623 GRCh37: 1:169524517-169524517
GRCh38: 1:169555279-169555279
41 F5 NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) SNV Uncertain significance 873759 GRCh37: 1:169492560-169492560
GRCh38: 1:169523322-169523322
42 F5 NM_000130.5(F5):c.5789-7A>C SNV Uncertain significance 874713 GRCh37: 1:169493149-169493149
GRCh38: 1:169523911-169523911
43 F5 NM_000130.5(F5):c.281T>C (p.Val94Ala) SNV Uncertain significance 874767 GRCh37: 1:169541551-169541551
GRCh38: 1:169572313-169572313
44 F5 NM_000130.4(F5):c.5177G>A (p.Arg1726Gln) SNV Uncertain significance 255209 rs369516642 GRCh37: 1:169500055-169500055
GRCh38: 1:169530817-169530817
45 F5 NM_000130.5(F5):c.4000T>C (p.Phe1334Leu) SNV Uncertain significance 875030 GRCh37: 1:169510328-169510328
GRCh38: 1:169541090-169541090
46 F5 NM_000130.5(F5):c.3691A>C (p.Ile1231Leu) SNV Uncertain significance 875127 GRCh37: 1:169510637-169510637
GRCh38: 1:169541399-169541399
47 F5 NM_000130.5(F5):c.*1857G>A SNV Uncertain significance 875182 GRCh37: 1:169481694-169481694
GRCh38: 1:169512456-169512456
48 F5 NM_000130.5(F5):c.3269A>G (p.Asp1090Gly) SNV Uncertain significance 875183 GRCh37: 1:169511059-169511059
GRCh38: 1:169541821-169541821
49 F5 NM_000130.5(F5):c.*1531C>T SNV Uncertain significance 875238 GRCh37: 1:169482020-169482020
GRCh38: 1:169512782-169512782
50 F5 NM_000130.5(F5):c.2037C>G (p.Phe679Leu) SNV Uncertain significance 875334 GRCh37: 1:169512291-169512291
GRCh38: 1:169543053-169543053

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

72
# 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 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 VWF F9 F8 F7 F5 F3
2 extracellular space GO:0005615 9.92 VWF F9 F8 F7 F5 F3
3 Golgi membrane GO:0000139 9.81 MCFD2 LMAN1 F8 F5
4 platelet alpha granule lumen GO:0031093 9.65 VWF F8 F5
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.58 LMAN1 F8 F5
6 Golgi lumen GO:0005796 9.56 F9 F7 F2 F10
7 platelet alpha granule GO:0031091 9.49 VWF F5
8 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 MCFD2 LMAN1 F8 F5
9 intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10
10 collagen-containing extracellular matrix GO:0062023 9.43 VWF LMAN1 F9 F7 F3 F2
11 serine-type peptidase complex GO:1905286 9.37 F7 F3
12 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 16)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 F9 F7 F2 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.76 MCFD2 LMAN1 F9 F8 F7 F5
3 positive regulation of cell migration GO:0030335 9.73 F7 F3 F10
4 positive regulation of protein kinase B signaling GO:0051897 9.69 F7 F3 F10
5 COPII vesicle coating GO:0048208 9.67 MCFD2 LMAN1 F8 F5
6 platelet degranulation GO:0002576 9.65 VWF F8 F5
7 platelet activation GO:0030168 9.61 VWF F8 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.56 VWF F9 F8 F2
9 hemostasis GO:0007599 9.56 VWF F9 F8 F7 F5 F3
10 acute-phase response GO:0006953 9.55 F8 F2
11 protein N-linked glycosylation via asparagine GO:0018279 9.52 MCFD2 LMAN1
12 blood coagulation, extrinsic pathway GO:0007598 9.5 F7 F3 F10
13 positive regulation of blood coagulation GO:0030194 9.49 F7 F2
14 positive regulation of positive chemotaxis GO:0050927 9.46 F7 F3
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
16 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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