FA5D
MCID: FCT006
MIFTS: 55

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 57 12 76 53 25 75 37 29 13 6 44 15 73
Parahemophilia 57 25 59 75
Labile Factor Deficiency 57 12 25
Proaccelerin Deficiency 12 25 59
Owren Disease 25 59 75
Quebec Platelet Disorder 75 73
Owren Parahemophilia 57 75
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 59
Deficiency, Factor V 40
Factor 5 Deficiency 75
Deficiency, Labile 12
Owren's Disease 25
Fa5d 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
factor v deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 227400
Disease Ontology 12 DOID:2216
ICD10 33 D68.2
MeSH 44 D005166
NCIt 50 C98938
SNOMED-CT 68 88776002
Orphanet 59 ORPHA326
UMLS via Orphanet 74 C0015499
ICD10 via Orphanet 34 D68.2
MedGen 42 C0015499
KEGG 37 H00220

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 factor v and factor viii, combined deficiency of, 2 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 lung, skin and whole blood, and related phenotypes are epistaxis and bruising susceptibility

NIH Rare Diseases : 53 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 : 75 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 76 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 129)
# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 2 32.0 F5 F8 LMAN1 MCFD2
2 thrombophilia due to activated protein c resistance 31.9 F10 F2 F3 F5 F8 F9
3 blood platelet disease 30.6 COX5A F10 F2 F3 F8 VWF
4 protein s deficiency 30.1 F2 F3 F5
5 protein c deficiency 30.1 F2 F5 F9
6 thrombophlebitis 29.9 F2 F5 F8
7 cardiac tamponade 29.8 F2 F8 F9
8 thrombophilia due to thrombin defect 29.8 F10 F2 F3 F5 F8 VWF
9 coronary artery anomaly 29.8 F2 F5 F7
10 antiphospholipid syndrome 29.5 F10 F2 F3 F5 VWF
11 hemorrhagic disease 29.5 F10 F11 F2 F3 F5 F7
12 thrombosis 29.2 F10 F2 F3 F5 F7 F8
13 hemophilia 29.1 F2 F3 F7 F8 F9 LMAN1
14 quebec platelet disorder 12.9
15 factor v and factor viii, combined deficiency of, 1 11.2
16 paracetamol poisoning 10.3 F2 F5
17 cerebral falx meningioma 10.3 F2 F3
18 spinal cord infarction 10.3 F2 F5
19 intestinal impaction 10.3 F2 F3
20 sudden sensorineural hearing loss 10.3 F2 F5
21 hemoglobin e disease 10.3 F2 F5
22 heparin-induced thrombocytopenia 10.3 F10 F3
23 mesenteric vascular occlusion 10.3 F2 F7
24 thrombasthenia 10.2 F2 F3 F5
25 giant hemangioma 10.2 F2 F3
26 cerebral sinovenous thrombosis 10.2 F2 F3 F5
27 sagittal sinus thrombosis 10.2 F2 F3 F5
28 blue toe syndrome 10.2 F2 F3
29 femoral neuropathy 10.2 F2 F3
30 factor xii deficiency 10.2 F3 F5 F9
31 cryptogenic cirrhosis 10.2 F2 F5
32 peripheral vertigo 10.2 F2 F3 F5
33 fournier gangrene 10.2 F2 F3 F8
34 factor xiii deficiency 10.2 F3 F5 F8
35 leech infestation 10.2 F10 F2 F3
36 prothrombin deficiency, congenital 10.2 F10 F2 F5
37 ischemic colitis 10.2 F2 F5
38 prothrombin deficiency 10.2 F2 F3 F7
39 post-thrombotic syndrome 10.2 F2 F5 F8
40 intracranial hypertension 10.2 F2 F3 F5
41 fainting 10.2 F8 VWF
42 antithrombin iii deficiency 10.2 F10 F2 F5
43 anterior cranial fossa meningioma 10.2 F2 F3 F7
44 cerebral arteritis 10.2 F8 VWF
45 portal vein thrombosis 10.2 F2 F5 F7
46 hantavirus pulmonary syndrome 10.2 F2 F3
47 catastrophic antiphospholipid syndrome 10.2 F3 F5
48 vitamin k deficiency hemorrhagic disease 10.2 F2 F8
49 active peptic ulcer disease 10.2 F2 VWF
50 scott syndrome 10.2 COX5A F10 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Factor V Deficiency:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 HP:0000978
3 prolonged bleeding time 32 HP:0003010
4 menorrhagia 32 HP:0000132
5 prolonged partial thromboplastin time 32 HP:0003645
6 prolonged prothrombin time 32 HP:0008151
7 prolonged whole-blood clotting time 32 HP:0005542
8 reduced coagulation factor v activity 32 HP:0003225

GenomeRNAi Phenotypes related to Factor V Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.96 PTCRA
2 Decreased viability GR00402-S-2 9.96 C4B CD52 COX5A F10 F11 F2
3 no effect GR00402-S-1 9.6 C4B CD52 COX5A F10 F11 F2

MGI Mouse Phenotypes related to Factor V Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 C4B F10 F11 F2 F3 F5
2 homeostasis/metabolism MP:0005376 9.97 C4B F10 F11 F2 F3 F5
3 hematopoietic system MP:0005397 9.96 C4B F11 F2 F3 F8 F9
4 immune system MP:0005387 9.65 C4B F11 F2 F3 F8 F9
5 mortality/aging MP:0010768 9.44 C4B F10 F11 F2 F3 F5

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 29 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

41
Lung, Skin, Whole Blood, Liver, Heart, Spinal Cord, Myeloid

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 208)
# Title Authors Year
1
"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate. ( 29578313 )
2018
2
The interaction of factor V and tissue factor pathway inhibitor in a myeloma patient with acquired factor V deficiency. ( 29665188 )
2018
3
Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria. ( 29105952 )
2018
4
Acquired factor V deficiency in a patient with myeloma and amyloidosis. ( 29427868 )
2018
5
Management of intracranial hemorrhage in severe factor V deficiency and definitive treatment with liver transplantation. ( 29250911 )
2018
6
Management of Single Uncomplicated Dental Extractions and Postoperative Bleeding Evaluation in Patients With Factor V Deficiency: A Local Antihemorrhagic Approach. ( 30012405 )
2018
7
A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation. ( 28503128 )
2017
8
Haemoperitoneum due to ruptured ovarian cyst in a 13-year-old girl with factor V deficiency- A case report. ( 28138193 )
2017
9
Pregnancies with factor V deficiency: a case report and review of the literature. ( 29746045 )
2017
10
Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran in the recent ten years experience. ( 28270373 )
2017
11
Successful coronary stenting in a patient with factor V deficiency in the absence of fresh frozen plasma transfusion: Case report. ( 29390379 )
2017
12
Major bleeding as spontaneous haemoperitoneum in a patient with factor V deficiency. ( 28111894 )
2017
13
Hip Replacement Surgery in 14-Year-Old Girl with Factor V Deficiency: Haemostatic Treatment and Thromboprophylaxis. ( 27872768 )
2016
14
Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V. ( 27444974 )
2016
15
Transfusion management of factor V deficiency: three case reports and review of the literature. ( 27125565 )
2016
16
Transient Factor V deficiency associated with Factor V-immunoglobulin complexes but without evidence of a classical inhibitor. ( 27664390 )
2016
17
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients. ( 26709270 )
2016
18
Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome. ( 26839474 )
2016
19
Comment on transfusion management of Factor V deficiency. ( 27933625 )
2016
20
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
21
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. ( 26980222 )
2016
22
Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency. ( 25886835 )
2015
23
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. ( 25470420 )
2015
24
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. ( 26550406 )
2015
25
The use of fresh frozen plasma for reproduction in severe factor V deficiency. ( 26152018 )
2015
26
Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency. ( 25896652 )
2015
27
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor. ( 26346326 )
2015
28
Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients. ( 25854415 )
2015
29
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. ( 25438872 )
2015
30
Congenital factor V deficiency: comparison of the severity of clinical presentations among patients with rare bleeding disorders. ( 25277779 )
2015
31
Managing Menorrhagia in a Familial Case of Factor V Deficiency. ( 25256869 )
2014
32
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient. ( 24675695 )
2014
33
Management of bleeding in severe factor V deficiency with a factor V inhibitor. ( 24517203 )
2014
34
Acquired factor V deficiency in a patient without evidence of a classical inhibitor. ( 24118596 )
2014
35
Public Health Problems related to factor V deficiency in southeast of Iran. ( 25250269 )
2014
36
Isolated factor V deficiency in a patient with elevated PT and aPTT during routine pre-operative laboratory screening. ( 27358851 )
2014
37
Parahemophilia: new insights into factor v deficiency. ( 23893775 )
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
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
41
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. ( 23746195 )
2013
42
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. ( 23616041 )
2013
43
Peripartum anesthetic management of a parturient with inherited factor v deficiency. ( 25612185 )
2013
44
Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation. ( 24085767 )
2013
45
Factor V Deficiency: A Subtle Presentation. ( 23881482 )
2013
46
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency. ( 23662219 )
2013
47
Cavum Vergae Bleed in a Term Neonate with Severe Factor V Deficiency. ( 24388321 )
2013
48
Large subgaleal hematoma as a presentation of parahemophilia. ( 23914122 )
2013
49
Severe factor V deficiency in two brothers with different clinical presentations. ( 22758216 )
2012
50
Acquired factor V deficiency and mini literature review. ( 21910794 )
2012

Variations for Factor V Deficiency

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

75
# 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:

37
# 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
13.48 CD52 F10 F2 F5 F7 F8
2
Show member pathways
13.07 F10 F11 F2 F3 F5 F7
3
Show member pathways
12.53 F10 F11 F2 F3 F5 F7
4 11.91 C4B F10 F11 F2 F3 F5
5
Show member pathways
11.7 F10 F2 F7 F9
6
Show member pathways
11.57 F10 F11 F2 F3 F5 F7
7 10.8 F10 F2 F7 F9

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 space GO:0005615 9.7 C4B F10 F11 F2 F3 F5
2 anchored component of membrane GO:0031225 9.69 CD52 GML TFPI
3 Golgi lumen GO:0005796 9.67 F10 F2 F7 F9
4 platelet alpha granule lumen GO:0031093 9.65 F5 F8 VWF
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.63 F5 F8 LMAN1
6 endoplasmic reticulum lumen GO:0005788 9.63 F10 F2 F5 F7 F8 F9
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.56 F5 F8 LMAN1 MCFD2
8 platelet alpha granule GO:0031091 9.5 F5 SERPINA5 VWF
9 extracellular region GO:0005576 9.44 C4B CD52 F10 F11 F2 F3
10 intrinsic component of external side of plasma membrane GO:0031233 9.43 F10 F3
11 serine-type peptidase complex GO:1905286 9.4 F3 F7
12 plasma membrane GO:0005886 10.27 C4B CD52 F10 F11 F2 F3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 C4B F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.76 F10 F2 F5 F7 F8 F9
3 blood coagulation GO:0007596 9.73 F10 F11 F2 F3 F5 F7
4 negative regulation of endopeptidase activity GO:0010951 9.72 C4B SERPINA5 TFPI
5 platelet degranulation GO:0002576 9.7 F5 F8 VWF
6 platelet activation GO:0030168 9.69 F2 F8 VWF
7 COPII vesicle coating GO:0048208 9.67 F5 F8 LMAN1 MCFD2
8 blood coagulation, intrinsic pathway GO:0007597 9.65 F11 F2 F8 F9 VWF
9 blood coagulation, extrinsic pathway GO:0007598 9.62 F10 F3 F7 TFPI
10 negative regulation of proteolysis GO:0045861 9.54 F2 SERPINA5
11 positive regulation of blood coagulation GO:0030194 9.49 F2 F7
12 regulation of blood coagulation GO:0030193 9.48 F11 F2
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 9.4 F3 F7
15 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F7

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.72 F10 F2 F7 F9 MCFD2
2 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
3 protease binding GO:0002020 9.43 F3 SERPINA5 VWF
4 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.17 C4B F10 F11 F2 F3 F7

Sources for Factor V Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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