THPH2
MCID: THR082
MIFTS: 58

Thrombophilia Due to Activated Protein C Resistance (THPH2)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune 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 12 72 13 44 15 70
Activated Protein C Resistance 57 12 73 72 44 70
Thrombophilia Due to Factor V Leiden 57 72 29 6
Apc Resistance 57 12 72 54
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 57 12 72
Proc Cofactor Deficiency 57 12 72
Pccf Deficiency 57 12 72
Thrombophilia V 57 12 72
Thph2 57 12 72
Thrombophilia, Susceptibility to, Due to Factor V Leiden 57 29
Thrombophilia, Due to Activated Protein C Resistance 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
thrombophilia due to activated protein c resistance:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111902
OMIM® 57 188055
OMIM Phenotypic Series 57 PS188050
UMLS 70 C0600433 C1861171

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) (Updated 20-May-2021)

MalaCards based summary : Thrombophilia Due to Activated Protein C Resistance, also known as activated protein c resistance, is related to pregnancy loss, recurrent 1 and polycythemia. 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 Bevacizumab and Atezolizumab have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney, and related phenotypes are preeclampsia and hypercoagulability

Disease Ontology : 12 A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has material basis in heterozygous mutation in F5 on chromosome 1q24.2.

UniProtKB/Swiss-Prot : 72 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 : 73 Activated protein C resistance (APCR) is a hypercoagulability (an increased tendency of the blood to... 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
Thrombophilia Due to Decreased Release of Plat Rare Hereditary 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 338)
# Related Disease Score Top Affiliating Genes
1 pregnancy loss, recurrent 1 31.1 F5 APOH
2 polycythemia 30.6 SERPINC1 F5 F2
3 eclampsia 30.5 THBD SERPINC1 MTHFR F2
4 severe pre-eclampsia 30.4 SERPINC1 F5 APOH
5 sticky platelet syndrome 30.3 SERPINE1 SERPINC1 F5
6 cavernous sinus thrombosis 30.2 SERPINC1 F3 F2
7 heparin-induced thrombocytopenia 30.2 SERPINC1 F3 F10
8 hepatic coma 30.2 SERPINC1 F3 F2
9 esophageal varix 30.2 SERPINC1 F3 F2
10 lateral sinus thrombosis 30.1 SERPINC1 MTHFR F2
11 tricuspid valve insufficiency 30.1 F3 F2
12 budd-chiari syndrome 30.0 SERPINC1 MTHFR F5 F3 F2 APOH
13 inflammatory bowel disease 30.0 SERPINC1 MTHFR F5 F3 F2
14 retinal vein occlusion 29.9 SERPINE1 SERPINC1 MTHFR F5 F3 F2
15 vasculitis 29.9 VWF THBD APOH
16 placenta disease 29.8 SERPINC1 MTHFR F5 F3 F2 APOH
17 polycythemia vera 29.8 VWF THBD F5 F2
18 thrombocytosis 29.8 VWF SERPINC1 F3 F2
19 portal hypertension 29.7 VWF F3 F2
20 nonarteritic anterior ischemic optic neuropathy 29.7 SERPINC1 MTHFR F5 F2 APOH
21 protein c deficiency 29.6 THBD SERPINE1 SERPINC1 MTHFR F5 F2
22 aortic aneurysm, familial abdominal, 1 29.6 SERPINE1 SERPINC1 PLG
23 limb ischemia 29.6 VWF SERPINE1 F2
24 deficiency anemia 29.6 SERPINC1 PLG F5 F2
25 placental abruption 29.5 THBD SERPINC1 MTHFR F5 F2 APOH
26 homocystinuria 29.5 THBD SERPINC1 MTHFR F8 F5
27 protein s deficiency 29.5 THBD SERPINC1 MTHFR F5 F3 F2
28 arteriosclerosis 29.5 THBD SERPINE1 SERPINC1 F3
29 factor v deficiency 29.4 VWF F8 F5 F3 F2 F10
30 carotid artery occlusion 29.4 THBD PLG F8 F5 APOH
31 hemophilia a 29.3 VWF F8 F5 F3
32 central retinal vein occlusion 29.3 VWF SERPINC1 MTHFR F8 F5 F3
33 systemic lupus erythematosus 29.3 VWF THBD SERPINE1 F3 F2 APOH
34 antithrombin iii deficiency 29.3 SERPINC1 PLG MTHFR F5 F2 F10
35 portal vein thrombosis 29.3 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
36 purpura fulminans 29.2 THBD SERPINC1 F5 F3 F2 APOH
37 behcet syndrome 29.2 VWF THBD SERPINC1 MTHFR F5 F2
38 mitral valve stenosis 29.1 VWF SERPINC1 PLG F3 F2
39 placental insufficiency 29.1 VWF SERPINE1 SERPINC1 F3 F2
40 hemolytic anemia 29.1 VWF THBD F3 F2 APOH
41 venous insufficiency 29.1 VWF SERPINE1 MTHFR F5 F2
42 retinal vascular occlusion 29.0 SERPINC1 PLG MTHFR F5 F3 F2
43 atherosclerosis susceptibility 29.0 VWF THBD SERPINE1 MTHFR F3
44 essential thrombocythemia 28.9 VWF THBD SERPINE1 SERPINC1 MTHFR F3
45 varicose veins 28.9 VWF THBD SERPINC1 MTHFR F5 F2
46 sagittal sinus thrombosis 28.9 THBD SERPINC1 PLG F8 F5 F3
47 pre-eclampsia 28.8 VWF THBD SERPINE1 SERPINC1 MTHFR F5
48 purpura 28.7 VWF THBD SERPINC1 F3 F2 APOH
49 peripheral vascular disease 28.7 VWF THBD SERPINE1 SERPINC1 MTHFR F5
50 acute myocardial infarction 28.6 VWF THBD SERPINE1 SERPINC1 PLG F3

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:

31
# Description HPO Frequency HPO Source Accession
1 preeclampsia 31 HP:0100602
2 hypercoagulability 31 HP:0100724
3 deep venous thrombosis 31 HP:0002625
4 prolonged partial thromboplastin time 31 HP:0003645
5 resistance to activated protein c 31 HP:0012175

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
venous thrombosis

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)

Prenatal Manifestations Delivery:
increased fetal loss

Clinical features from OMIM®:

188055 (Updated 20-May-2021)

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 10.15 APOH F10 F2 F3 F5 F8
2 cardiovascular system MP:0005385 10.06 F10 F2 F3 F5 PLG SERPINC1
3 immune system MP:0005387 9.92 F2 F3 F8 PLG SERPINC1 SERPINE1
4 integument MP:0010771 9.8 F2 F3 F5 MTHFR PLG SERPINE1
5 mortality/aging MP:0010768 9.73 APOH F10 F2 F3 F5 F8
6 liver/biliary system MP:0005370 9.63 F5 MTHFR PLG SERPINC1 SERPINE1 THBD
7 reproductive system MP:0005389 9.17 F10 F2 F8 MTHFR PLG SERPINC1

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 all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
3 Angiogenesis Inhibitors Phase 2
4 Antineoplastic Agents, Immunological Phase 2
5 Pharmaceutical Solutions Phase 2
6 Immunoglobulins Phase 2
7 Antibodies Phase 2
8 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Open-label Study With the Anti-PD-L1 Atezolizumab Monoclonal Antibody in Combination With Bevacizumab in Patients With Advanced Chemotherapy Resistant Colorectal Cancer and MSI-like Molecular Signature Recruiting NCT02982694 Phase 2 Atezolizumab;Bevacizumab

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 Factor V Leiden 29 F5
2 Thrombophilia, Susceptibility to, 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:

40
Heart, Liver, Kidney, Breast, Ovary, Endothelial, Whole Blood

Publications for Thrombophilia Due to Activated Protein C Resistance

Articles related to Thrombophilia Due to Activated Protein C Resistance:

(show top 50) (show all 1141)
# Title Authors PMID Year
1
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 6 57 61 54
9372726 1997
2
Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. 61 6 57
14617013 2003
3
Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. 54 57 6
9454742 1998
4
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 61 57 6
9459326 1998
5
HELLP syndrome associated with factor V R506Q mutation. 57 6 61
8616100 1996
6
High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. 57 6 61
7803250 1994
7
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 6 57 61
8049422 1994
8
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 61 6 57
7910348 1994
9
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 57 6
16493002 2006
10
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 57 6
15638861 2005
11
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 57 6
15534175 2004
12
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 57 6
14996674 2004
13
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 6 57
11686338 2001
14
Mutations in coagulation factors in women with unexplained late fetal loss. 6 57
11018168 2000
15
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 6 57
10666427 2000
16
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 57 6
10494770 1999
17
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6 57
10477778 1999
18
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 57 6
10328130 1999
19
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 6 57
10348711 1999
20
Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. 6 57
9734642 1998
21
Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users and in [correction of who are] carriers of hereditary prothrombotic conditions. The Cerebral Venous Sinus Thrombosis Study Group. 6 57
9518910 1998
22
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 57 6
9415695 1997
23
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 6 57
9245936 1997
24
Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. 57 6
8566967 1996
25
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 6 57
7586244 1995
26
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. 57 6
7877648 1995
27
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 57 6
7911872 1994
28
Human genetics. Bad blood by mutation. 57 6
8164730 1994
29
Mutation in blood coagulation factor V associated with resistance to activated protein C. 57 6
8164741 1994
30
Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis. 57 61
10444192 1999
31
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 6 61
9454741 1998
32
Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. 57 61
9375735 1997
33
Neonatal purpura fulminans in association with factor V R506Q mutation. 61 57
8627449 1996
34
Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM. 57 61
7795227 1995
35
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. 61 57
7562967 1995
36
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. 57
19531787 2009
37
Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 6
16931580 2006
38
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 57
16762626 2006
39
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 57
16707754 2006
40
The factor V G1691A mutation is a risk for porencephaly: A case-control study. 57
15293282 2004
41
Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis. 6
14695241 2004
42
Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation. 57
14673478 2004
43
Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. 57
12869495 2003
44
Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. 6
12421138 2002
45
Estimating the efficacy and efficiency of cascade genetic screening. 57
11431707 2001
46
Spontaneous thrombosis in mice carrying the factor V Leiden mutation. 57
11110695 2000
47
The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. 57
11167765 2000
48
The challenge of thrombophilia in maternal-fetal medicine. 57
10666435 2000
49
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 6
10507841 1999
50
Born to clot: the European burden. 57
10233439 1999

Variations for Thrombophilia Due to Activated Protein C Resistance

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

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F5 NM_000130.4(F5):c.1001G>C (p.Arg334Thr) SNV Pathogenic 644 rs118203906 GRCh37: 1:169524537-169524537
GRCh38: 1:169555299-169555299
2 F5 NM_000130.4(F5):c.439G>T (p.Glu147Ter) SNV Pathogenic 645 rs118203912 GRCh37: 1:169529939-169529939
GRCh38: 1:169560701-169560701
3 F5 NM_000130.4(F5):c.1160T>C (p.Ile387Thr) SNV Pathogenic 655 rs118203911 GRCh37: 1:169521931-169521931
GRCh38: 1:169552693-169552693
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.1601G>A (p.Arg534Gln) SNV Pathogenic 642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
6 F5 NM_000130.4(F5):c.5534A>G (p.His1845Arg) SNV Uncertain significance 293581 rs200865371 GRCh37: 1:169497218-169497218
GRCh38: 1:169527980-169527980
7 F5 NM_000130.5(F5):c.374G>A (p.Gly125Asp) SNV Uncertain significance 873809 GRCh37: 1:169530004-169530004
GRCh38: 1:169560766-169560766
8 F5 NM_000130.5(F5):c.3865T>C (p.Phe1289Leu) SNV Uncertain significance 874153 GRCh37: 1:169510463-169510463
GRCh38: 1:169541225-169541225
9 F5 NM_000130.5(F5):c.3751T>C (p.Leu1251=) SNV Uncertain significance 874203 GRCh37: 1:169510577-169510577
GRCh38: 1:169541339-169541339
10 F5 NM_000130.5(F5):c.*1912C>T SNV Uncertain significance 874258 GRCh37: 1:169481639-169481639
GRCh38: 1:169512401-169512401
11 F5 NM_000130.5(F5):c.*1613A>G SNV Uncertain significance 874311 GRCh37: 1:169481938-169481938
GRCh38: 1:169512700-169512700
12 F5 NM_000130.5(F5):c.*1404G>A SNV Uncertain significance 874372 GRCh37: 1:169482147-169482147
GRCh38: 1:169512909-169512909
13 F5 NM_000130.5(F5):c.*1301A>T SNV Uncertain significance 874373 GRCh37: 1:169482250-169482250
GRCh38: 1:169513012-169513012
14 F5 NM_000130.5(F5):c.*872C>T SNV Uncertain significance 874467 GRCh37: 1:169482679-169482679
GRCh38: 1:169513441-169513441
15 F5 NM_000130.5(F5):c.1033C>T (p.Arg345Trp) SNV Uncertain significance 874622 GRCh37: 1:169524505-169524505
GRCh38: 1:169555267-169555267
16 F5 NM_000130.5(F5):c.5789-7A>C SNV Uncertain significance 874713 GRCh37: 1:169493149-169493149
GRCh38: 1:169523911-169523911
17 F5 NM_000130.5(F5):c.281T>C (p.Val94Ala) SNV Uncertain significance 874767 GRCh37: 1:169541551-169541551
GRCh38: 1:169572313-169572313
18 F5 NM_000130.5(F5):c.276T>G (p.Ala92=) SNV Uncertain significance 874768 GRCh37: 1:169541556-169541556
GRCh38: 1:169572318-169572318
19 F5 NM_000130.5(F5):c.3810C>G (p.Ala1270=) SNV Uncertain significance 876019 GRCh37: 1:169510518-169510518
GRCh38: 1:169541280-169541280
20 F5 NM_000130.5(F5):c.*2148C>T SNV Uncertain significance 876088 GRCh37: 1:169481403-169481403
GRCh38: 1:169512165-169512165
21 F5 NM_000130.5(F5):c.*1776A>G SNV Uncertain significance 876149 GRCh37: 1:169481775-169481775
GRCh38: 1:169512537-169512537
22 F5 NM_000130.5(F5):c.*1715T>G SNV Uncertain significance 876290 GRCh37: 1:169481836-169481836
GRCh38: 1:169512598-169512598
23 F5 NM_000130.5(F5):c.*1699G>T SNV Uncertain significance 874310 GRCh37: 1:169481852-169481852
GRCh38: 1:169512614-169512614
24 F5 NM_000130.5(F5):c.*1433G>A SNV Uncertain significance 876339 GRCh37: 1:169482118-169482118
GRCh38: 1:169512880-169512880
25 F5 NM_000130.5(F5):c.*1237G>A SNV Uncertain significance 876255 GRCh37: 1:169482314-169482314
GRCh38: 1:169513076-169513076
26 F5 NM_000130.5(F5):c.*1132A>G SNV Uncertain significance 874422 GRCh37: 1:169482419-169482419
GRCh38: 1:169513181-169513181
27 F5 NM_000130.5(F5):c.*288T>C SNV Uncertain significance 876512 GRCh37: 1:169483263-169483263
GRCh38: 1:169514025-169514025
28 F5 NM_000130.4(F5):c.1128G>T (p.Arg376Ser) SNV Uncertain significance 627209 rs373172802 GRCh37: 1:169521963-169521963
GRCh38: 1:169552725-169552725
29 F5 NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) SNV Uncertain significance 876694 GRCh37: 1:169497306-169497306
GRCh38: 1:169528068-169528068
30 F5 NM_000130.5(F5):c.2241_2243AGA[2] (p.Glu750del) Microsatellite Uncertain significance 293620 rs575766548 GRCh37: 1:169512079-169512081
GRCh38: 1:169542841-169542843
31 F5 NM_000130.4(F5):c.2222A>G (p.Asn741Ser) SNV Uncertain significance 293621 rs144979314 GRCh37: 1:169512106-169512106
GRCh38: 1:169542868-169542868
32 F5 NM_000130.4(F5):c.6360G>A (p.Lys2120=) SNV Uncertain significance 293574 rs757104503 GRCh37: 1:169484850-169484850
GRCh38: 1:169515612-169515612
33 F5 NM_000130.4(F5):c.5419+11C>G SNV Uncertain significance 293585 rs6008 GRCh37: 1:169498835-169498835
GRCh38: 1:169529597-169529597
34 F5 NM_000130.4(F5):c.*363T>G SNV Uncertain significance 293566 rs115882472 GRCh37: 1:169483188-169483188
GRCh38: 1:169513950-169513950
35 F5 NM_000130.4(F5):c.2864G>T (p.Ser955Ile) SNV Uncertain significance 293618 rs199507543 GRCh37: 1:169511464-169511464
GRCh38: 1:169542226-169542226
36 F5 NM_000130.4(F5):c.936C>T (p.Thr312=) SNV Uncertain significance 293633 rs758832130 GRCh37: 1:169525900-169525900
GRCh38: 1:169556662-169556662
37 F5 NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) SNV Uncertain significance 293586 rs886045544 GRCh37: 1:169498933-169498933
GRCh38: 1:169529695-169529695
38 F5 NM_000130.4(F5):c.738A>G (p.Thr246=) SNV Uncertain significance 293636 rs375739973 GRCh37: 1:169526098-169526098
GRCh38: 1:169556860-169556860
39 F5 NM_000130.4(F5):c.165T>C (p.Asn55=) SNV Uncertain significance 293641 rs781434840 GRCh37: 1:169551754-169551754
GRCh38: 1:169582516-169582516
40 F5 NM_000130.4(F5):c.886G>A (p.Ala296Thr) SNV Uncertain significance 293634 rs748350385 GRCh37: 1:169525950-169525950
GRCh38: 1:169556712-169556712
41 F5 NM_000130.4(F5):c.6629A>T (p.Gln2210Leu) SNV Uncertain significance 293571 rs886045541 GRCh37: 1:169483597-169483597
GRCh38: 1:169514359-169514359
42 F5 NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) SNV Uncertain significance 293590 rs6011 GRCh37: 1:169500178-169500178
GRCh38: 1:169530940-169530940
43 F5 NM_000130.4(F5):c.*762G>A SNV Uncertain significance 293558 rs753366128 GRCh37: 1:169482789-169482789
GRCh38: 1:169513551-169513551
44 F5 NM_000130.4(F5):c.4035A>G (p.Gln1345=) SNV Uncertain significance 293601 rs886045547 GRCh37: 1:169510293-169510293
GRCh38: 1:169541055-169541055
45 F5 NM_000130.4(F5):c.*1290G>A SNV Uncertain significance 293550 rs9332677 GRCh37: 1:169482261-169482261
GRCh38: 1:169513023-169513023
46 F5 NM_000130.4(F5):c.538G>A (p.Glu180Lys) SNV Uncertain significance 293638 rs143152035 GRCh37: 1:169529840-169529840
GRCh38: 1:169560602-169560602
47 F5 NM_000130.4(F5):c.4333A>G (p.Thr1445Ala) SNV Uncertain significance 293597 rs200204656 GRCh37: 1:169509995-169509995
GRCh38: 1:169540757-169540757
48 F5 NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) SNV Uncertain significance 293606 rs543751483 GRCh37: 1:169510873-169510873
GRCh38: 1:169541635-169541635
49 F5 NM_000130.4(F5):c.3211C>T (p.His1071Tyr) SNV Uncertain significance 293614 rs146408488 GRCh37: 1:169511117-169511117
GRCh38: 1:169541879-169541879
50 F5 NM_000130.4(F5):c.5721T>C (p.Cys1907=) SNV Uncertain significance 293578 rs886045543 GRCh37: 1:169494142-169494142
GRCh38: 1:169524904-169524904

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

72
# 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

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 VWF THBD SERPINE1 SERPINC1 PLG F8
2
Show member pathways
12.53 THBD SERPINC1 F8 F5 F3 F2
3
Show member pathways
11.96 SERPINE1 PLG MTHFR F2
4
Show member pathways
11.86 VWF THBD SERPINE1 SERPINC1 PLG F8
5 11.72 SERPINE1 PLG F3
6 11.54 THBD SERPINE1 F3
7 11.48 VWF THBD SERPINE1 SERPINC1 PLG F8
8 10.99 PLG F2
9 10.8 PLG F2
10 10.61 F2 F10
11 10.52 SERPINE1 PLG

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.11 THBD SERPINE1 SERPINC1 PLG F8 F5
2 extracellular region GO:0005576 9.96 VWF SERPINE1 SERPINC1 PLG F8 F5
3 endoplasmic reticulum lumen GO:0005788 9.72 SERPINC1 F8 F5 F2 F10
4 collagen-containing extracellular matrix GO:0062023 9.7 VWF SERPINE1 SERPINC1 PLG F3 F2
5 blood microparticle GO:0072562 9.61 SERPINC1 PLG F2
6 platelet alpha granule GO:0031091 9.4 VWF F5
7 intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
8 extracellular space GO:0005615 9.36 VWF THBD SERPINE1 SERPINC1 PLG F8
9 platelet alpha granule lumen GO:0031093 9.35 VWF SERPINE1 PLG F8 F5

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.81 SERPINC1 PLG F5 F2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.78 F8 F5 F2 F10
3 platelet degranulation GO:0002576 9.73 VWF SERPINE1 PLG F8 F5 APOH
4 platelet activation GO:0030168 9.71 VWF F8 F2
5 fibrinolysis GO:0042730 9.63 SERPINE1 PLG F2
6 blood coagulation, intrinsic pathway GO:0007597 9.62 VWF F8 F2 APOH
7 positive regulation of blood coagulation GO:0030194 9.61 SERPINE1 F2 APOH
8 hemostasis GO:0007599 9.61 VWF THBD SERPINC1 PLG F8 F5
9 negative regulation of blood coagulation GO:0030195 9.58 THBD SERPINE1 APOH
10 negative regulation of fibrinolysis GO:0051918 9.55 THBD SERPINE1 PLG F2 APOH
11 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 APOH
12 negative regulation of platelet activation GO:0010544 9.52 THBD F2
13 blood coagulation, extrinsic pathway GO:0007598 9.49 F3 F10
14 blood coagulation GO:0007596 9.28 VWF THBD SERPINC1 PLG F8 F5

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 heparin binding GO:0008201 9.5 SERPINC1 F2 APOH
2 serine-type peptidase activity GO:0008236 9.43 PLG F2 F10
3 phospholipid binding GO:0005543 9.33 F3 F10 APOH
4 serine-type endopeptidase activity GO:0004252 9.26 PLG F3 F2 F10
5 protease binding GO:0002020 8.92 VWF SERPINE1 SERPINC1 F3

Sources for Thrombophilia Due to Activated Protein C Resistance

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
Content
Loading form....