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 57 75 29 13 6 73
Activated Protein C Resistance 57 76 75 44 73
Thrombophilia Due to Factor V Leiden 57 75 29 6
Apc Resistance 57 75 55
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 57 75
Proc Cofactor Deficiency 57 75
Pccf Deficiency 57 75
Thrombophilia V 57 75
Thph2 57 75
Thrombophilia, Susceptibility to, Due to Factor V Leiden 57

Characteristics:

OMIM:

57
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:

32
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 : 57 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. Affiliated tissues include testes, liver and bone, and related phenotypes are hypercoagulability and preeclampsia

UniProtKB/Swiss-Prot : 75 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 : 76 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 233)
# Related Disease Score Top Affiliating Genes
1 central retinal vein occlusion 30.5 APOH F2 F5 MTHFR SERPINC1
2 retinal vein occlusion 30.4 APOH F2 F5 MTHFR SERPINC1 SERPINE1
3 polycythemia vera 30.2 F5 PF4 THBD
4 protein s deficiency 30.1 APOH F2 F3 F5 MTHFR SERPINC1
5 breast reconstruction 29.9 APOH F8
6 sticky platelet syndrome 29.9 F5 SERPINC1 SERPINE1
7 heparin-induced thrombocytopenia 29.9 F10 F3 SERPINC1
8 thrombocytosis 29.8 F2 F3 SERPINC1
9 protein c deficiency 29.8 F2 F5 F9 MTHFR SERPINC1 THBD
10 budd-chiari syndrome 29.8 APOH F2 F3 F5 MTHFR SERPINC1
11 eclampsia 29.8 F2 MTHFR SERPINC1 THBD
12 nonarteritic anterior ischemic optic neuropathy 29.8 F2 F5 MTHFR SERPINC1
13 homocysteinemia 29.8 F2 F5 MTHFR SERPINC1
14 coronary heart disease 1 29.7 MTHFR PLAT SERPINE1 VWF
15 placenta disease 29.7 APOH F3 F5 MTHFR SERPINC1
16 ischemic optic neuropathy 29.7 APOH F2 F5 MTHFR SERPINC1
17 portal vein thrombosis 29.7 APOH F2 F5 MTHFR SERPINC1 SERPINE1
18 hemophilia 29.7 F2 F3 F8 F9 VWF
19 essential thrombocythemia 29.6 F2 F3 PF4 SERPINE1 THBD VWF
20 thrombophilia due to thrombin defect 29.6 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
21 factor v deficiency 29.6 VWF F9 F8 F5 F3 F2
22 peripheral vascular disease 29.6 F2 F3 PLAT SERPINC1 SERPINE1 THBD
23 hemophilia a 29.5 F10 F3 F5 F8 F9 VWF
24 thrombosis 29.4 VWF THBD SERPINE1 SERPINC1 PLAT PF4
25 retinal vascular occlusion 29.4 APOH F2 F5 MTHFR PLG SERPINC1
26 cerebrovascular disease 29.3 F2 F5 MTHFR PLAT SERPINE1 VWF
27 antiphospholipid syndrome 29.3 VWF THBD SERPINC1 PLAT MTHFR F5
28 patent foramen ovale 29.3 APOH F2 F5 FGA MTHFR PLAT
29 atrial fibrillation 29.3 F10 F2 PF4 PLAT VWF
30 thrombophilia 29.2 VWF THBD SERPINE1 SERPINC1 MTHFR F9
31 heart disease 29.0 F2 F3 F8 MTHFR PF4 PLAT
32 intracranial thrombosis 28.9 VWF SERPINC1 PLG MTHFR FGA F8
33 acute myocardial infarction 28.9 F3 PLAT PLG SERPINC1 SERPINE1 SERPINF2
34 thrombophlebitis 28.9 SERPINF2 SERPINE1 SERPINC1 PLAT MTHFR F8
35 pre-eclampsia 28.8 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
36 vascular disease 28.6 VWF THBD SERPINE1 SERPINC1 PLG PLAT
37 disseminated intravascular coagulation 28.6 THBD SERPINF2 SERPINE1 SERPINC1 PLAT FGA
38 pulmonary embolism 28.5 VWF SERPINF2 SERPINE1 SERPINC1 PLAT MTHFR
39 myocardial infarction 27.9 VWF THBD SERPINF2 SERPINE1 SERPINC1 PLG
40 stroke, ischemic 27.7 VWF THBD SERPINF2 SERPINE1 SERPINC1 PLG
41 factor v leiden thrombophilia 11.6
42 protein z deficiency 11.5
43 pregnancy loss, recurrent 1 10.3 APOH F5
44 hemoglobin e disease 10.3 F2 F5
45 hantavirus pulmonary syndrome 10.3 F2 F3
46 papilledema 10.3 APOH F2
47 factor v and factor viii, combined deficiency of, 2 10.3 F5 F8
48 prothrombin deficiency 10.3 F2 F3
49 ischemic neuropathy 10.3 F2 MTHFR
50 aspirin allergy 10.3 SERPINC1 SERPINE1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hypercoagulability 32 HP:0100724
2 preeclampsia 32 HP:0100602
3 prolonged partial thromboplastin time 32 HP:0003645
4 deep venous thrombosis 32 HP:0002625
5 resistance to activated protein c 32 HP:0012175

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

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

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 29 F5
2 Thrombophilia Due to Factor V Leiden 29

Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

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

41
Testes, Liver, Bone, Heart, Spinal Cord, Pancreas, Bone Marrow

Publications for Thrombophilia Due to Activated Protein C Resistance

Articles related to Thrombophilia Due to Activated Protein C Resistance:

(show top 50) (show all 181)
# Title Authors Year
1
Rivaroxaban Causes Missed Diagnosis of Protein S Deficiency but Not of Activated Protein C Resistance (Factor V Leiden). ( 28920711 )
2018
2
Recurrent thrombosis after carotid endarterectomy secondary to activated protein C resistance and essential thrombocytosis: A case report. ( 30383703 )
2018
3
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
4
Comparison of Phenotypic Activated Protein C Resistance Testing With a Genetic Assay for Factor V Leiden. ( 30423028 )
2018
5
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
6
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
7
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
8
Diagnostic Testing Approaches for Activated Protein C Resistance and Factor V Leiden: A Comparison of Institutional and National Provider Practices. ( 28472350 )
2017
9
Laboratory assessment of Activated Protein C Resistance/Factor V-Leiden and performance characteristics of a new quantitative assay. ( 29162399 )
2017
10
Determinants of acquired activated protein C resistance and D-dimer in breast cancer. ( 27505249 )
2016
11
Activated Protein C Resistance Does Not Increase Risk for Recurrent Stroke or Death in Stroke Patients. ( 27508300 )
2016
12
Prevalence of the Factor V E666D Mutation and Its Correlation With Activated Protein C Resistance in the Chinese Population. ( 24335247 )
2015
13
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
14
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
15
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
16
Vascular graft thrombosis secondary to activated protein C resistance: a case report and literature review. ( 23550206 )
2014
17
Thyroid function, activated protein C resistance and the risk of venous thrombosis in users of hormonal contraceptives. ( 24438944 )
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
Activated protein C resistance associated with lupus anticoagulants is a high risk in acute mesenteric venous thrombosis. ( 26993180 )
2014
23
A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. ( 23188048 )
2013
24
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
25
An improved algorithm for activated protein C resistance and factor V Leiden screening. ( 23955457 )
2013
26
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
27
Tissue factor pathway inhibitor, activated protein C resistance, and risk of ischemic stroke due to postmenopausal hormone therapy. ( 22363056 )
2012
28
Acquired activated protein C resistance in sarcoma patients. ( 22576290 )
2012
29
Prevalence of activated protein C resistance (Factor V Leiden) in Lagos, Nigeria. ( 22718159 )
2012
30
Lupus anticoagulant interference in activated protein C resistance testing: in vitro phenomenon or in vivo pathophysiologic effect? ( 21406411 )
2011
31
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
32
Acquired activated protein C resistance caused by lupus anticoagulants. ( 21846908 )
2011
33
Estimating the cost of redundancy in molecular diagnostics: the case of activated protein C resistance and factor V Leiden. ( 22029186 )
2011
34
Epidemiology of activated protein C resistance and factor v leiden mutation in the mediterranean region. ( 22224194 )
2011
35
Coagulation inhibitors and activated protein C resistance in recurrent pregnancy losses in Indian women. ( 22234103 )
2011
36
Activated protein C resistance among postmenopausal women using transdermal estrogens: importance of progestogen. ( 20613675 )
2010
37
Exogenous hormones, the risk of venous thromboembolism, and activated protein C resistance. ( 20975607 )
2010
38
Deficiencies of proteins C, S and antithrombin and activated protein C resistance--their involvement in the occurrence of Arterial thromboses. ( 21254740 )
2010
39
Activated protein C resistance in deep venous thrombosis. ( 19136231 )
2009
40
Factor V Leiden and activated protein C resistance. ( 19947358 )
2009
41
Screening with the activated protein C resistance assay yields significant savings in a patient population with low prevalence of factor V leiden. ( 18285275 )
2008
42
Activated protein C resistance (APCR) and placental fibrin deposition. ( 18703228 )
2008
43
Activated protein C resistance, factor V Leiden and assessment of thrombotic risk. ( 18990960 )
2008
44
Evaluation of smoking as a risk factor for activated protein C resistance during pregnancy. ( 17314487 )
2007
45
Activated protein C resistance and factor V Leiden: a review. ( 17550313 )
2007
46
Activated protein C resistance in cord blood from healthy and complicated newborns. ( 17853185 )
2007
47
Activated protein C resistance determined with a thrombin generation-based test is associated with thrombotic events in patients with lupus anticoagulants. ( 17958739 )
2007
48
Mesenteric artery occlusion secondary to activated protein C resistance: a life-threatening combination. ( 18216386 )
2007
49
Activated protein C resistance: the influence of ABO-blood group, gender and age. ( 16023702 )
2006
50
Activated protein C resistance -- in the absence of factor V Leiden -- and pregnancy. ( 16420566 )
2006

Variations for Thrombophilia Due to Activated Protein C Resistance

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

75
# 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 11.68 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 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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