MCID: THR082
MIFTS: 47

Thrombophilia Due to Activated Protein C Resistance

Categories: Genetic diseases, Blood diseases, Rare 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 53 71 28 13 69
Activated Protein C Resistance 53 72 71 41 69
Thrombophilia Due to Factor V Leiden 53 71 28
Apc Resistance 53 71 51
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 53 71
Proc Cofactor Deficiency 53 71
Pccf Deficiency 53 71
Thrombophilia V 53 71
Thph2 53 71
Thrombophilia, Susceptibility to, Due to Factor V Leiden 53

Characteristics:

OMIM:

53
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:



Summaries for Thrombophilia Due to Activated Protein C Resistance

OMIM : 53 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 budd-chiari syndrome and hemophilia, and has symptoms including deep venous thrombosis, prolonged partial thromboplastin time and resistance to activated protein c. 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. Related phenotypes are homeostasis/metabolism and cardiovascular system

UniProtKB/Swiss-Prot : 71 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 : 72 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

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 193)
# Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 32.0 APOH F2 F3 F5 MTHFR SERPINC1
2 hemophilia 29.4 F2 F3 F8 F9 VWF
3 hemophilia a 29.1 F10 F3 F5 F8 F9 VWF
4 thrombosis 26.6 APOH F10 F2 F3 F5 F9
5 thrombophilia 25.0 APOH F10 F2 F3 F5 F8
6 factor v leiden thrombophilia 11.5
7 protein z deficiency 11.3
8 may-thurner syndrome 10.6 APOH F5
9 acanthamoeba keratitis 10.6 APOH F5
10 paracetamol poisoning 10.6 F2 F5
11 intracranial sinus thrombosis 10.5 F3 SERPINC1
12 breast reconstruction 10.5 APOH F8
13 mesenteric vascular occlusion 10.5 F2 MTHFR
14 unilateral absence of a pulmonary artery 10.5 THBD VWF
15 neonatal stroke 10.4 MTHFR SERPINE1
16 pregnancy loss, recurrent 1 10.4 APOH F5 MTHFR
17 splenic infarction 10.4 APOH F2
18 factor v and factor viii, combined deficiency of, 2 10.4 F5 F8
19 hemorrhagic fever 10.4 F2 F3 SERPINC1
20 hemoglobin e disease 10.4 F2 F5
21 blood protein disease 10.4 F2 MTHFR SERPINC1
22 porencephaly 10.4 F2 F5 MTHFR
23 severe pre-eclampsia 10.4 APOH F5 SERPINC1
24 sticky platelet syndrome 10.4 F5 SERPINC1 SERPINE1
25 fainting 10.4 F8 VWF
26 hepatitis a 10.4 F2 F3 SERPINC1
27 inferior vena cava interruption 10.4 F5 MTHFR SERPINE1
28 arteritic anterior ischemic optic neuropathy 10.4 F2 F5 MTHFR
29 alcohol-related birth defect 10.4 F2 F3 F8
30 amaurosis fugax 10.4 F5 MTHFR SERPINE1
31 heparin-induced thrombocytopenia 10.4 F10 F3 SERPINC1
32 thrombocytosis 10.4 F2 F3 SERPINC1
33 severe hemophilia b 10.4 F8 F9
34 von willebrand disease, type 2 10.4 F8 VWF
35 endocarditis 10.4 APOH F2 SERPINC1
36 subendocardial myocardial infarction 10.4 F2 SERPINC1 SERPINE1
37 homocystinuria 10.4 F5 MTHFR SERPINC1
38 von willebrand disease, type 3 10.4 F8 VWF
39 qualitative platelet defect 10.4 F2 F3 VWF
40 cerebral palsy 10.4 F2 F5 MTHFR
41 scott syndrome 10.4 F10 F2 F5
42 ischemic neuropathy 10.3 F2 MTHFR
43 shwartzman phenomenon 10.3 F3 SERPINE1 THBD
44 infective endocarditis 10.3 APOH F2 SERPINE1
45 sagittal sinus thrombosis 10.3 F2 F3 F5 SERPINC1
46 cerebral sinovenous thrombosis 10.3 APOH F2 F3 F5
47 quebec platelet disorder 10.3 F10 F5 SERPINE1
48 mercury poisoning 10.3 PLAT THBD
49 sneddon syndrome 10.3 APOH F2 F5 SERPINC1
50 raynaud disease 10.3 APOH THBD 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

Symptoms via clinical synopsis from OMIM:

53
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:

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

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 PF4 PLAT F8 APOH F10 F9
2 cardiovascular system MP:0005385 10.23 F5 F10 F9 F2 FGA F3
3 hematopoietic system MP:0005397 10.21 PF4 F8 F9 F2 FGA F3
4 immune system MP:0005387 10.11 F8 F9 F2 FGA F3 SERPINE1
5 mortality/aging MP:0010768 10.03 PLAT F8 APOH F10 F9 F2
6 integument MP:0010771 9.97 F5 F2 FGA F3 MTHFR SERPINE1
7 liver/biliary system MP:0005370 9.8 F5 F9 FGA SERPINE1 THBD PLG
8 nervous system MP:0003631 9.65 MTHFR F5 F2 FGA F3 PLAT
9 reproductive system MP:0005389 9.28 F8 F10 F2 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 28 F5
2 Thrombophilia Due to Factor V Leiden 28

Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

Publications for Thrombophilia Due to Activated Protein C Resistance

Articles related to Thrombophilia Due to Activated Protein C Resistance:

# Title Authors Year
1
[Initial experience in the diagnosis of thrombophilia due to activated protein C resistance]. ( 9173574 )
1997

Variations for Thrombophilia Due to Activated Protein C Resistance

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

71
# Symbol AA change Variation ID SNP ID
1 F5 p.Arg334Thr VAR_013621 rs118203906
2 F5 p.Arg2102His VAR_017329
3 F5 p.Ile387Thr VAR_032698 rs118203911
4 F5 p.Cys613Arg VAR_032699

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant Pathogenic,risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
2 F5 NM_000130.4(F5): c.1001G> C (p.Arg334Thr) single nucleotide variant Pathogenic rs118203906 GRCh37 Chromosome 1, 169524537: 169524537
3 F5 NM_000130.4(F5): c.439G> T (p.Glu147Ter) single nucleotide variant Pathogenic rs118203912 GRCh37 Chromosome 1, 169529939: 169529939
4 F5 NM_000130.4(F5): c.1160T> C (p.Ile387Thr) single nucleotide variant Pathogenic rs118203911 GRCh37 Chromosome 1, 169521931: 169521931

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 14)
# 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 11.8 F3 PLG SERPINE1
6
Show member pathways
11.73 F10 F2 F9
7 11.68 F3 SERPINE1 THBD
8
Show member pathways
11.66 F2 FGA VWF
9 11.61 F10 F2 F3 F5 F8 F9
10 11.44 PLAT PLG SERPINE1
11 11.34 F2 FGA VWF
12 11.3 FGA PLAT PLG
13 10.74 PLAT PLG SERPINE1 SERPINF2
14 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 9.91 APOH F3 FGA PLAT PLG SERPINF2
2 extracellular matrix GO:0031012 9.88 APOH F3 PLAT SERPINE1 VWF
3 extracellular region GO:0005576 9.86 APOH F10 F2 F3 F5 F8
4 blood microparticle GO:0072562 9.83 F2 FGA PLG SERPINC1 SERPINF2
5 endoplasmic reticulum lumen GO:0005788 9.8 F10 F2 F5 F8 F9 FGA
6 Golgi lumen GO:0005796 9.69 F10 F2 F9
7 platelet alpha granule GO:0031091 9.58 F5 FGA VWF
8 fibrinogen complex GO:0005577 9.49 FGA SERPINF2
9 intrinsic component of external side of plasma membrane GO:0031233 9.46 F10 F3
10 platelet alpha granule lumen GO:0031093 9.23 F5 F8 FGA PF4 PLG SERPINE1
11 extracellular exosome GO:0070062 10.1 APOH F2 F3 F9 FGA PLAT
12 extracellular space GO:0005615 10 APOH F2 F3 F5 F8 F9

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.95 F2 F5 FGA PLG SERPINC1
2 platelet degranulation GO:0002576 9.91 APOH F5 F8 FGA PF4 PLG
3 ER to Golgi vesicle-mediated transport GO:0006888 9.89 F10 F2 F5 F8 F9
4 fibrinolysis GO:0042730 9.85 F2 FGA PLAT PLG SERPINE1 SERPINF2
5 platelet activation GO:0030168 9.83 F2 F8 FGA PF4 VWF
6 blood coagulation, intrinsic pathway GO:0007597 9.8 APOH F10 F2 F8 F9 VWF
7 negative regulation of peptidase activity GO:0010466 9.77 SERPINC1 SERPINE1 SERPINF2
8 acute-phase response GO:0006953 9.74 F2 F8 SERPINF2
9 regulation of blood coagulation GO:0030193 9.73 APOH F2 SERPINC1
10 blood coagulation GO:0007596 9.73 F10 F2 F3 F5 F8 F9
11 signal peptide processing GO:0006465 9.71 F10 F2 F9
12 negative regulation of blood coagulation GO:0030195 9.7 APOH SERPINE1 THBD
13 positive regulation of blood coagulation GO:0030194 9.69 APOH F2 SERPINE1
14 peptidyl-glutamic acid carboxylation GO:0017187 9.65 F10 F2 F9
15 plasminogen activation GO:0031639 9.63 APOH FGA PLAT
16 negative regulation of fibrinolysis GO:0051918 9.63 APOH F2 PLG SERPINE1 SERPINF2 THBD
17 negative regulation of platelet activation GO:0010544 9.58 F2 THBD
18 negative regulation of plasminogen activation GO:0010757 9.58 SERPINE1 SERPINF2
19 blood coagulation, extrinsic pathway GO:0007598 9.58 F10 F3 F9
20 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 receptor binding GO:0005102 9.77 F2 FGA PLAT PLG SERPINE1
3 peptidase inhibitor activity GO:0030414 9.65 SERPINC1 SERPINE1 SERPINF2
4 serine-type endopeptidase inhibitor activity GO:0004867 9.63 SERPINC1 SERPINE1 SERPINF2
5 heparin binding GO:0008201 9.62 APOH F2 PF4 SERPINC1
6 phospholipid binding GO:0005543 9.61 APOH F10 F3
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

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11 DGIdb
16 ExPASy
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42 MESH via Orphanet
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65 SNOMED-CT via HPO
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