THPH2
MCID: THR082
MIFTS: 60

Thrombophilia Due to Activated Protein C Resistance (THPH2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

MalaCards integrated aliases for Thrombophilia Due to Activated Protein C Resistance:

Name: Thrombophilia Due to Activated Protein C Resistance 58 76 30 13 6 74
Activated Protein C Resistance 58 77 76 45 74
Thrombophilia Due to Factor V Leiden 58 76 30 6
Apc Resistance 58 76 56
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 58 76
Proc Cofactor Deficiency 58 76
Pccf Deficiency 58 76
Thrombophilia V 58 76
Thph2 58 76
Thrombophilia, Susceptibility to, Due to Factor V Leiden 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
most cases are caused by the factor v leiden mutation (r506q, )
onset of symptoms usually in adulthood
thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery
homozygotes have more severe disease with earlier onset of thrombosis


HPO:

33
thrombophilia due to activated protein c resistance:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombophilia Due to Activated Protein C Resistance

OMIM : 58 Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC; 612283) and results in a tendency to thrombosis. See also factor V deficiency (227400), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V. The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; 612309.0001), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment. (188055)

MalaCards based summary : Thrombophilia Due to Activated Protein C Resistance, also known as activated protein c resistance, is related to central retinal vein occlusion and retinal vein occlusion. An important gene associated with Thrombophilia Due to Activated Protein C Resistance is F5 (Coagulation Factor V), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes and thyroid, and related phenotypes are hypercoagulability and preeclampsia

UniProtKB/Swiss-Prot : 76 Thrombophilia due to activated protein C resistance: A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis.

Wikipedia : 77 Activated protein C resistance (APCR) is a hemostatic disorder characterized by a poor anticoagulant... more...

Related Diseases for Thrombophilia Due to Activated Protein C Resistance

Diseases in the Thrombophilia family:

Thrombophilia Due to Thrombin Defect Thrombophilia Due to Activated Protein C Resistance
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Thrombophilia Due to Thrombomodulin Defect
Prothrombin-Related Thrombophilia

Diseases related to Thrombophilia Due to Activated Protein C Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 central retinal vein occlusion 30.6 APOH F2 F5 MTHFR SERPINC1
2 retinal vein occlusion 30.4 APOH F2 F5 MTHFR SERPINC1 SERPINE1
3 polycythemia vera 30.3 F5 PF4 THBD
4 coronary heart disease 1 30.2 MTHFR PLAT SERPINE1
5 protein s deficiency 30.1 APOH F2 F3 F5 MTHFR SERPINC1
6 sticky platelet syndrome 30.1 F5 SERPINC1 SERPINE1
7 heparin-induced thrombocytopenia 30.1 F10 F3 SERPINC1
8 breast reconstruction 30.1 APOH F8
9 thrombocytosis 30.0 F2 F3 SERPINC1
10 eclampsia 29.9 F2 MTHFR SERPINC1 THBD
11 nonarteritic anterior ischemic optic neuropathy 29.9 F2 F5 MTHFR SERPINC1
12 homocysteinemia 29.9 F2 F5 MTHFR SERPINC1
13 budd-chiari syndrome 29.8 APOH F2 F3 F5 MTHFR SERPINC1
14 ischemic optic neuropathy 29.8 APOH F2 F5 MTHFR SERPINC1
15 protein c deficiency 29.8 F2 F5 F9 MTHFR SERPINC1 THBD
16 portal vein thrombosis 29.7 APOH F2 F5 MTHFR SERPINC1 SERPINE1
17 hemophilia 29.6 F2 F3 F8 F9 VWF
18 essential thrombocythemia 29.5 F2 F3 PF4 SERPINE1 THBD VWF
19 factor v deficiency 29.4 F10 F2 F3 F5 F8 F9
20 peripheral vascular disease 29.4 F2 F3 PLAT SERPINC1 SERPINE1 THBD
21 hemophilia a 29.4 F10 F3 F5 F8 F9 VWF
22 retinal vascular occlusion 29.3 APOH F2 F5 MTHFR PLG SERPINC1
23 cerebrovascular disease 29.2 F2 F5 MTHFR PLAT SERPINE1 VWF
24 patent foramen ovale 29.1 APOH F2 F5 FGA MTHFR PLAT
25 atrial fibrillation 29.1 F10 F2 PF4 PLAT VWF
26 thrombophilia due to thrombin defect 29.0 APOH F10 F2 F3 F5 F8
27 antiphospholipid syndrome 28.9 APOH F10 F2 F3 F5 MTHFR
28 pre-eclampsia 28.8 APOH F2 F3 F5 MTHFR SERPINC1
29 thrombophilia 28.7 APOH F2 F3 F5 F8 F9
30 heart disease 28.5 F2 F3 F8 MTHFR PF4 PLAT
31 thrombosis 28.5 APOH F10 F2 F3 F5 F8
32 intracranial thrombosis 28.5 APOH F3 F5 F8 FGA MTHFR
33 acute myocardial infarction 28.5 F3 PLAT PLG SERPINC1 SERPINE1 SERPINF2
34 thrombophlebitis 28.5 APOH F2 F5 F8 MTHFR PLAT
35 disseminated intravascular coagulation 28.0 F2 F3 F5 F9 FGA PLAT
36 vascular disease 27.9 APOH F2 F3 F5 FGA MTHFR
37 pulmonary embolism 27.8 APOH F10 F2 F3 F5 F9
38 myocardial infarction 26.8 F10 F2 F3 F5 F8 FGA
39 stroke, ischemic 26.7 APOH F2 F3 F5 FGA MTHFR
40 factor v leiden thrombophilia 11.7
41 protein z deficiency 11.5
42 pregnancy loss, recurrent 1 10.5 APOH F5
43 hemoglobin e disease 10.5 F2 F5
44 hantavirus pulmonary syndrome 10.5 F2 F3
45 papilledema 10.5 APOH F2
46 factor v and factor viii, combined deficiency of, 2 10.5 F5 F8
47 prothrombin deficiency 10.5 F2 F3
48 ischemic neuropathy 10.5 F2 MTHFR
49 aspirin allergy 10.5 SERPINC1 SERPINE1
50 active peptic ulcer disease 10.4 F2 VWF

Graphical network of the top 20 diseases related to Thrombophilia Due to Activated Protein C Resistance:



Diseases related to Thrombophilia Due to Activated Protein C Resistance

Symptoms & Phenotypes for Thrombophilia Due to Activated Protein C Resistance

Human phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

33
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 33 HP:0100724
2 preeclampsia 33 HP:0100602
3 prolonged partial thromboplastin time 33 HP:0003645
4 deep venous thrombosis 33 HP:0002625
5 resistance to activated protein c 33 HP:0012175

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
venous thrombosis

Prenatal Manifestations Delivery:
increased fetal loss

Prenatal Manifestations Maternal:
increased risk for preeclampsia

Laboratory Abnormalities:
resistance to activated protein c
poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)

Clinical features from OMIM:

188055

MGI Mouse Phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 APOH F10 F2 F3 F5 F8
2 cardiovascular system MP:0005385 10.23 F10 F2 F3 F5 F9 FGA
3 hematopoietic system MP:0005397 10.21 F2 F3 F8 F9 FGA PF4
4 immune system MP:0005387 10.11 F2 F3 F8 F9 FGA PLAT
5 mortality/aging MP:0010768 10.03 APOH F10 F2 F3 F5 F8
6 integument MP:0010771 9.97 F2 F3 F5 FGA MTHFR PLAT
7 liver/biliary system MP:0005370 9.86 F5 F9 FGA MTHFR PLG SERPINC1
8 nervous system MP:0003631 9.65 F2 F3 F5 FGA MTHFR PLAT
9 reproductive system MP:0005389 9.28 F10 F2 F8 FGA MTHFR PLAT

Drugs & Therapeutics for Thrombophilia Due to Activated Protein C Resistance

Drugs for Thrombophilia Due to Activated Protein C Resistance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1 28014-46-2
3
Norethindrone Approved Phase 4 68-22-4 6230
4
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
5
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 17489-40-6, 797-63-7 13109
6
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
7
Norgestrel Approved Phase 4 6533-00-2 13109
8
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 4 62-90-8 229455
9
Nandrolone decanoate Approved, Illicit Phase 4 360-70-3 9677
10
Dienogest Approved Phase 4 65928-58-7
11
Nandrolone Experimental, Investigational Phase 4 434-22-0 9904
12 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Norethindrone Acetate Phase 4
16 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
18 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1
19 Progestins Phase 4,Phase 2,Phase 1,Not Applicable
20 Estrogens Phase 4,Phase 3,Phase 1,Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Contraceptives, Oral, Combined Phase 4,Phase 3,Phase 1,Phase 2
24 Contraceptives, Postcoital Phase 4
25 Ethinyl estradiol, levonorgestrel drug combination Phase 4,Phase 3,Phase 2
26 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
27 Ethinyl Estradiol-Norgestrel Combination Phase 4
28 Drospirenone and ethinyl estradiol combination Phase 4
29 Androgens Phase 4
30 Contraceptive Agents, Male Phase 4,Not Applicable
31 Anabolic Agents Phase 4
32 Insulin, Globin Zinc Phase 4
33 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
34 insulin Phase 4
35
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
36
Racepinephrine Approved Phase 3 329-65-7 838
37
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
38 Epinephryl borate Phase 3
39
Desogestrel Approved Phase 2,Phase 1,Not Applicable 54024-22-5 40973
40
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
41
Bevacizumab Approved, Investigational Phase 2 216974-75-3
42 Mineralocorticoids Phase 1, Phase 2
43 Mineralocorticoid Receptor Antagonists Phase 1, Phase 2
44 Natriuretic Agents Phase 1, Phase 2
45 Diuretics, Potassium Sparing Phase 1, Phase 2
46 diuretics Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 2
48 Immunologic Factors Phase 2
49 Antibodies Phase 2
50 Antibodies, Monoclonal Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
2 Investigate Impact of Yasmin vs Microgynon on Hemostasis Parameters in Healthy Women Completed NCT00651846 Phase 4 Yasmin (DRSP 3mg/EE 0.03 mg);Microgynon (LNG 0.15 mg/EE 0.03 mg)
3 Synthetic vs Natural Estrogen in Combined Oral Contraception Completed NCT02352090 Phase 4 Ethinyl estradiol / dienogest;Estradiol valerate / dienogest;Dienogest
4 Effects on Hemostasis, Lipids, Carbohydrate Metabolism, Adrenal & Thyroid Function of the Combined Oral Contraceptive NOMAC-E2 Compared to a COC Containing LNG-EE (292004)(COMPLETED)(P05764) Completed NCT00511355 Phase 3 NOMAC-E2;Levonorgestrel and Ethinyl Estradiol
5 Dose Effects of Hormone Therapy (Two Doses of Estradiol Associated to Progesterone) on Inflammatory Markers Terminated NCT00236301 Phase 3 CLIMASTON (drug);17 Beta-estradiol (2mg/day)and (1mg/day);placebo
6 A Multicenter Study to Evaluate the Effects of a 91-Day Extended Cycle Oral Contraceptive on Hemostatic Parameters in Healthy Women Completed NCT01252186 Phase 2 91-day Levonorgestrel Oral Contraceptive;28-day Levonorgestrel Oral Contraceptive;28-day Desogestrel Oral Contraceptive
7 "E4/DRSP Endocrine Function, Metabolic Control and Hemostasis Study" Completed NCT02957630 Phase 1, Phase 2 15 mg E4/3 mg DRSP;30 mcg EE/150 mcg LNG;20 mcg EE/3 mg DRSP
8 Study With Atezolizumab Plus Bevacizumab in Patients With Chemotherapy Resistant, MSI-like, Colorectal Cancer Recruiting NCT02982694 Phase 2 Atezolizumab;Bevacizumab
9 A Study to Evaluate Ovarian Follicular Activity and Hormone Levels for DR-102 Compared to Two 28-Day Oral Contraceptives Completed NCT01291004 Phase 1 Desogestrel/ethinyl estradiol and ethinyl estradiol;28-day drospirenone oral contraceptive;28-day levonorgestrel oral contraceptive
10 Osteonecrosis in Children With Acute Lymphoblastic Leukemia Unknown status NCT01104324
11 Assessment of the Prevalence of Major Psychiatric Disorders in a Cohort of Women With Clinical Criteria Corresponding to Pure, Abortive-form, Obstetrical, Antiphospholipid Syndrome Completed NCT02833194
12 Safety of the Etonogestrel-releasing Implant During the Puerperium of Healthy Women Completed NCT00828542 Not Applicable etonogestrel implant;depot medroxyprogesterone acetate
13 Antiphospholipid Antibodies & Osteopontin as Risk Factors for Cerebrovascular Stroke in Young Adults Recruiting NCT03561285
14 Effect of Citrate on the Coagulation System in Patients Receiving CRRT Recruiting NCT02486614

Search NIH Clinical Center for Thrombophilia Due to Activated Protein C Resistance

Cochrane evidence based reviews: activated protein c resistance

Genetic Tests for Thrombophilia Due to Activated Protein C Resistance

Genetic tests related to Thrombophilia Due to Activated Protein C Resistance:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Activated Protein C Resistance 30 F5
2 Thrombophilia Due to Factor V Leiden 30

Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

MalaCards organs/tissues related to Thrombophilia Due to Activated Protein C Resistance:

42
Testes, Thyroid

Publications for Thrombophilia Due to Activated Protein C Resistance

Articles related to Thrombophilia Due to Activated Protein C Resistance:

(show top 50) (show all 168)
# Title Authors Year
1
Recurrent thrombosis after carotid endarterectomy secondary to activated protein C resistance and essential thrombocytosis: A case report. ( 30383703 )
2018
2
The effects of oral contraceptive usage on thrombin generation and activated protein C resistance in Saudi women, with a possible impact of the body mass index. ( 30359453 )
2018
3
Comparison of Phenotypic Activated Protein C Resistance Testing With a Genetic Assay for Factor V Leiden. ( 30423028 )
2018
4
Activated protein C resistance in patients following venous thromboembolism receiving rivaroxaban versus vitamin K antagonists: assessment using Russell viper venom time-based assay. ( 27636904 )
2017
5
Estimates of Within-Subject Biological Variation of Protein C, Antithrombin, Protein S Free, Protein S Activity, and Activated Protein C Resistance in Pregnant Women. ( 28196919 )
2017
6
Effect of dabigatran on a prothrombinase-based assay for detecting activated protein C resistance: an ex vivo and in vitro study in normal subjects and factor V Leiden carriers. ( 28287382 )
2017
7
Diagnostic Testing Approaches for Activated Protein C Resistance and Factor V Leiden: A Comparison of Institutional and National Provider Practices. ( 28472350 )
2017
8
Laboratory assessment of Activated Protein C Resistance/Factor V-Leiden and performance characteristics of a new quantitative assay. ( 29162399 )
2017
9
Determinants of acquired activated protein C resistance and D-dimer in breast cancer. ( 27505249 )
2016
10
Activated Protein C Resistance Does Not Increase Risk for Recurrent Stroke or Death in Stroke Patients. ( 27508300 )
2016
11
Prevalence of the Factor V E666D Mutation and Its Correlation With Activated Protein C Resistance in the Chinese Population. ( 24335247 )
2015
12
Effect of freezing plasma at -20°C for 2 weeks on prothrombin time, activated partial thromboplastin time, dilute Russell viper venom time, activated protein C resistance, and D-dimer levels. ( 24842886 )
2015
13
The effect of dabigatran and rivarovaban on a prothrombinase-based assay for activated protein C resistance: a preliminary study in subjects heterozygous for factor V Leiden. ( 25761318 )
2015
14
Prevalence and role of antithrombin III, protein C and protein S deficiencies and activated protein C resistance in Kosovo women with recurrent pregnancy loss during the first trimester of pregnancy. ( 26752858 )
2015
15
Activated protein C resistance associated with lupus anticoagulants is a high risk in acute mesenteric venous thrombosis. ( 26993180 )
2014
16
Thyroid function, activated protein C resistance and the risk of venous thrombosis in users of hormonal contraceptives. ( 24438944 )
2014
17
Vascular graft thrombosis secondary to activated protein C resistance: a case report and literature review. ( 23550206 )
2014
18
Antiphopholipid antibodies and functional activated protein C resistance in patients with breast cancer during anthracycline-based chemotherapy administered through an intravenous port-catheter device. ( 24577843 )
2014
19
Activated protein C resistance assay and factor V Leiden. ( 25119624 )
2014
20
Activated protein C resistance testing for factor V Leiden. ( 25293789 )
2014
21
Activated protein C resistance and antiphospholipid antibodies in recurrent fetal loss: experience of a single referral center in northern iraq. ( 25435743 )
2014
22
A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. ( 23188048 )
2013
23
Superficial vein thrombosis, thrombin generation and activated protein C resistance as predictors of thromboembolic events in lupus and antiphospholipid patients. A prospective cohort study. ( 23676348 )
2013
24
An improved algorithm for activated protein C resistance and factor V Leiden screening. ( 23955457 )
2013
25
Combined and sequential use of activated protein C resistance and molecular genetic test for the diagnosis of factor V Leiden: a new laboratory approach. ( 24273947 )
2013
26
Acquired activated protein C resistance in sarcoma patients. ( 22576290 )
2012
27
Prevalence of activated protein C resistance (Factor V Leiden) in Lagos, Nigeria. ( 22718159 )
2012
28
Lupus anticoagulant interference in activated protein C resistance testing: in vitro phenomenon or in vivo pathophysiologic effect? ( 21406411 )
2011
29
Activated protein C resistance as measured by residual factor V after Russell's viper venom and activated protein C treatment analyzed as a continuous variable in multiple myeloma and normal controls. ( 21537162 )
2011
30
Acquired activated protein C resistance caused by lupus anticoagulants. ( 21846908 )
2011
31
Estimating the cost of redundancy in molecular diagnostics: the case of activated protein C resistance and factor V Leiden. ( 22029186 )
2011
32
Epidemiology of activated protein C resistance and factor v leiden mutation in the mediterranean region. ( 22224194 )
2011
33
Coagulation inhibitors and activated protein C resistance in recurrent pregnancy losses in Indian women. ( 22234103 )
2011
34
Activated protein C resistance among postmenopausal women using transdermal estrogens: importance of progestogen. ( 20613675 )
2010
35
Exogenous hormones, the risk of venous thromboembolism, and activated protein C resistance. ( 20975607 )
2010
36
Deficiencies of proteins C, S and antithrombin and activated protein C resistance--their involvement in the occurrence of Arterial thromboses. ( 21254740 )
2010
37
Activated protein C resistance in deep venous thrombosis. ( 19136231 )
2009
38
Factor V Leiden and activated protein C resistance. ( 19947358 )
2009
39
Screening with the activated protein C resistance assay yields significant savings in a patient population with low prevalence of factor V leiden. ( 18285275 )
2008
40
Activated protein C resistance, factor V Leiden and assessment of thrombotic risk. ( 18990960 )
2008
41
Evaluation of smoking as a risk factor for activated protein C resistance during pregnancy. ( 17314487 )
2007
42
Activated protein C resistance and factor V Leiden: a review. ( 17550313 )
2007
43
Activated protein C resistance in cord blood from healthy and complicated newborns. ( 17853185 )
2007
44
Activated protein C resistance determined with a thrombin generation-based test is associated with thrombotic events in patients with lupus anticoagulants. ( 17958739 )
2007
45
Mesenteric artery occlusion secondary to activated protein C resistance: a life-threatening combination. ( 18216386 )
2007
46
Activated protein C resistance: the influence of ABO-blood group, gender and age. ( 16023702 )
2006
47
Activated protein C resistance -- in the absence of factor V Leiden -- and pregnancy. ( 16420566 )
2006
48
Factor V Cambridge mutation and activated protein C resistance assays. ( 16525593 )
2006
49
Mechanisms for acquired activated protein C resistance in cancer patients. ( 15748257 )
2005
50
Mali acroangiodermatitis in homozygous activated protein C resistance. ( 15781687 )
2005

Variations for Thrombophilia Due to Activated Protein C Resistance

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

76
# Symbol AA change Variation ID SNP ID
1 F5 p.Arg534Gln VAR_001213 rs6025
2 F5 p.Arg334Thr VAR_013621 rs118203906
3 F5 p.Arg2102His VAR_017329
4 F5 p.Ile387Thr VAR_032698 rs118203911
5 F5 p.Cys613Arg VAR_032699 rs145347915

ClinVar genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

6 (show top 50) (show all 278)
# 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 NM_000130.4(F5): c.1001G> C (p.Arg334Thr) single nucleotide variant Pathogenic rs118203906 GRCh37 Chromosome 1, 169524537: 169524537
4 F5 NM_000130.4(F5): c.1001G> C (p.Arg334Thr) single nucleotide variant Pathogenic rs118203906 GRCh38 Chromosome 1, 169555299: 169555299
5 F5 NM_000130.4(F5): c.439G> T (p.Glu147Ter) single nucleotide variant Pathogenic rs118203912 GRCh37 Chromosome 1, 169529939: 169529939
6 F5 NM_000130.4(F5): c.439G> T (p.Glu147Ter) single nucleotide variant Pathogenic rs118203912 GRCh38 Chromosome 1, 169560701: 169560701
7 F5 NM_000130.4(F5): c.1160T> C (p.Ile387Thr) single nucleotide variant Pathogenic rs118203911 GRCh37 Chromosome 1, 169521931: 169521931
8 F5 NM_000130.4(F5): c.1160T> C (p.Ile387Thr) single nucleotide variant Pathogenic rs118203911 GRCh38 Chromosome 1, 169552693: 169552693
9 F5 NM_000130.4(F5): c.3980A> G (p.His1327Arg) single nucleotide variant Benign/Likely benign rs1800595 GRCh37 Chromosome 1, 169510348: 169510348
10 F5 NM_000130.4(F5): c.3980A> G (p.His1327Arg) single nucleotide variant Benign/Likely benign rs1800595 GRCh38 Chromosome 1, 169541110: 169541110
11 F5 NM_000130.4(F5): c.6665A> G (p.Asp2222Gly) single nucleotide variant Benign/Likely benign rs6027 GRCh37 Chromosome 1, 169483561: 169483561
12 F5 NM_000130.4(F5): c.6665A> G (p.Asp2222Gly) single nucleotide variant Benign/Likely benign rs6027 GRCh38 Chromosome 1, 169514323: 169514323
13 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
14 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
15 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
16 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
17 F5 NM_000130.4(F5): c.5290A> G (p.Met1764Val) single nucleotide variant Benign/Likely benign rs6030 GRCh37 Chromosome 1, 169498975: 169498975
18 F5 NM_000130.4(F5): c.5290A> G (p.Met1764Val) single nucleotide variant Benign/Likely benign rs6030 GRCh38 Chromosome 1, 169529737: 169529737
19 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
20 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
21 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
22 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
23 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
24 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
25 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
26 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
27 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
28 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
29 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
30 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
31 F5 NM_000130.4(F5): c.2573A> G (p.Lys858Arg) single nucleotide variant Benign/Likely benign rs4524 GRCh37 Chromosome 1, 169511755: 169511755
32 F5 NM_000130.4(F5): c.2573A> G (p.Lys858Arg) single nucleotide variant Benign/Likely benign rs4524 GRCh38 Chromosome 1, 169542517: 169542517
33 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
34 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
35 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
36 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
37 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
38 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
39 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
40 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
41 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
42 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
43 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
44 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
45 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
46 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345
47 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh37 Chromosome 1, 169515726: 169515726
48 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh38 Chromosome 1, 169546488: 169546488
49 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh37 Chromosome 1, 169519894: 169519894
50 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh38 Chromosome 1, 169550656: 169550656

Expression for Thrombophilia Due to Activated Protein C Resistance

Search GEO for disease gene expression data for Thrombophilia Due to Activated Protein C Resistance.

Pathways for Thrombophilia Due to Activated Protein C Resistance

Pathways related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 APOH F10 F2 F3 F5 F8
2
Show member pathways
12.63 F10 F2 F3 F5 F8 F9
3
Show member pathways
12.14 F2 MTHFR PLAT PLG SERPINE1
4
Show member pathways
12.03 F10 F2 F3 F5 F8 F9
5
Show member pathways
11.82 F2 PLAT PLG
6 11.8 F3 PLG SERPINE1
7
Show member pathways
11.73 F10 F2 F9
8 11.69 F3 SERPINE1 THBD
9
Show member pathways
11.66 F2 FGA VWF
10 11.61 F10 F2 F3 F5 F8 F9
11 11.44 PLAT PLG SERPINE1
12 11.34 F2 FGA VWF
13 11.3 FGA PLAT PLG
14 10.88 F2 PLG
15 10.74 PLAT PLG SERPINE1 SERPINF2
16 10.72 F10 F2 F9

GO Terms for Thrombophilia Due to Activated Protein C Resistance

Cellular components related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.98 APOH F3 FGA PLAT PLG SERPINF2
2 endoplasmic reticulum lumen GO:0005788 9.87 F10 F2 F5 F8 F9 FGA
3 blood microparticle GO:0072562 9.8 F2 FGA PLG SERPINC1 SERPINF2
4 Golgi lumen GO:0005796 9.69 F10 F2 F9
5 collagen-containing extracellular matrix GO:0062023 9.65 APOH F3 FGA PF4 PLAT PLG
6 platelet alpha granule GO:0031091 9.63 F5 FGA VWF
7 fibrinogen complex GO:0005577 9.49 FGA SERPINF2
8 intrinsic component of external side of plasma membrane GO:0031233 9.48 F10 F3
9 platelet alpha granule lumen GO:0031093 9.23 F5 F8 FGA PF4 PLG SERPINE1
10 extracellular space GO:0005615 10.13 APOH F10 F2 F3 F5 F8
11 extracellular exosome GO:0070062 10.11 APOH F2 F9 FGA PLAT PLG
12 extracellular region GO:0005576 10.06 APOH F10 F2 F3 F5 F8

Biological processes related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.92 F2 F5 FGA PLG SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.91 F10 F2 F5 F8 F9
3 platelet degranulation GO:0002576 9.91 APOH F5 F8 FGA PF4 PLG
4 platelet activation GO:0030168 9.8 F2 F8 FGA PF4 VWF
5 fibrinolysis GO:0042730 9.8 F2 FGA PLAT PLG SERPINE1 SERPINF2
6 blood coagulation, intrinsic pathway GO:0007597 9.77 APOH F2 F8 F9 VWF
7 negative regulation of peptidase activity GO:0010466 9.75 SERPINC1 SERPINE1 SERPINF2
8 blood coagulation GO:0007596 9.73 F10 F2 F3 F5 F8 F9
9 acute-phase response GO:0006953 9.71 F2 F8 SERPINF2
10 negative regulation of blood coagulation GO:0030195 9.67 APOH SERPINE1 THBD
11 positive regulation of blood coagulation GO:0030194 9.65 APOH F2 SERPINE1
12 regulation of blood coagulation GO:0030193 9.63 APOH F2 SERPINC1
13 negative regulation of fibrinolysis GO:0051918 9.63 APOH F2 PLG SERPINE1 SERPINF2 THBD
14 plasminogen activation GO:0031639 9.61 APOH FGA PLAT
15 negative regulation of platelet activation GO:0010544 9.57 F2 THBD
16 negative regulation of plasminogen activation GO:0010757 9.56 SERPINE1 SERPINF2
17 blood coagulation, extrinsic pathway GO:0007598 9.55 F10 F3
18 hemostasis GO:0007599 9.36 F10 F2 F3 F5 F8 F9

Molecular functions related to Thrombophilia Due to Activated Protein C Resistance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.8 F10 F2 F9 PLAT PLG
2 signaling receptor binding GO:0005102 9.77 F2 FGA PLAT PLG SERPINE1
3 peptidase inhibitor activity GO:0030414 9.65 SERPINC1 SERPINE1 SERPINF2
4 phospholipid binding GO:0005543 9.63 APOH F10 F3
5 heparin binding GO:0008201 9.62 APOH F2 PF4 SERPINC1
6 serine-type endopeptidase inhibitor activity GO:0004867 9.61 SERPINC1 SERPINE1 SERPINF2
7 serine-type peptidase activity GO:0008236 9.55 F10 F2 F9 PLAT PLG
8 serine-type endopeptidase activity GO:0004252 9.43 F10 F2 F3 F9 PLAT PLG
9 protease binding GO:0002020 9.02 F3 SERPINC1 SERPINE1 SERPINF2 VWF
10 protein binding GO:0005515 10.19 APOH F10 F2 F3 F5 F8

Sources for Thrombophilia Due to Activated Protein C Resistance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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