MCID: THR082
MIFTS: 50

Thrombophilia Due to Activated Protein C Resistance malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

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Sources:
49OMIM, 11diseasecard, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Thrombophilia Due to Activated Protein C Resistance:

Name: Thrombophilia Due to Activated Protein C Resistance 49 11 24 65 67
Thrombophilia Due to Factor V Leiden 49 24 67
Activated Protein C Resistance 65 67
Apc Resistance 47 67
Thrombophilia Due to Deficiency of Activated Protein C Cofactor 67
 
Proc Cofactor Deficiency 67
Thrombophilia V 67
Pccf Deficiency 67
Thph2 67


Classifications:



External Ids:

OMIM49 188055
MeSH36 D020016

Summaries for Thrombophilia Due to Activated Protein C Resistance

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OMIM:49 Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant... (188055) more...

MalaCards based summary: Thrombophilia Due to Activated Protein C Resistance, also known as thrombophilia due to factor v leiden, is related to central retinal vein occlusion and budd-chiari syndrome, and has symptoms including autosomal dominant inheritance, deep venous thrombosis and adult onset. An important gene associated with Thrombophilia Due to Activated Protein C Resistance is F5 (Coagulation Factor V (Proaccelerin, Labile Factor)), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Integrin alphaIIb beta3 signaling. Related mouse phenotypes are embryogenesis and liver/biliary system.

UniProtKB/Swiss-Prot:67 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:68 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

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Diseases in the Thrombophilia family:

thrombophilia due to activated protein c resistance Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Thrombin Defect 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 240)
idRelated DiseaseScoreTop Affiliating Genes
1central retinal vein occlusion31.0APOH, F2, F3, F5, MTHFR, SERPINC1
2budd-chiari syndrome30.9APOH, F2, F5, MTHFR, SERPINC1
3protein c deficiency30.8APOH, F2, F5, MTHFR, SERPINC1
4factor v deficiency30.1F10, F2, F3, F5, F8, F9
5retinitis29.9APOH, F2, F5, MTHFR, PLG, SERPINC1
6thrombophlebitis29.3APOH, F2, F3, F5, F8, F9
7thrombophilia due to thrombin defect29.0APOH, F10, F2, F3, F5, F8
8myocardial infarction28.4F10, F2, F3, F5, F9, FGA
9systemic lupus erythematosus10.5
10lupus erythematosus10.5
11antiphospholipid syndrome10.4
12thrombophilia10.4
13factor v leiden thrombophilia10.4
14peripheral vascular disease10.4
15vascular disease10.4
16protein s deficiency10.4
17mayer-rokitansky-kuster-hauser syndrome10.4APOH, F5
18monogenic diabetes10.4APOH, F5
19benign mastocytoma10.3F3, F5
20muller barth menger syndrome10.3F5, MTHFR
21acanthocheilonemiasis10.3APOH, F5
22diffuse idiopathic skeletal hyperostosis10.3F2, F3
23pylorospasm10.3F5, MTHFR
24bronchiolitis obliterans10.3APOH, F8
25omphalocele10.3F5, MTHFR
26pulmonary fibrosis, familial10.3F2, MTHFR
27female reproductive endometrioid cancer10.3F3, F5
28barrett's adenocarcinoma10.3F2, F3
29intracranial structure hemangioma10.3F3, F5, SERPINC1
30multiple myeloma10.3
31dilated cardiomyopathy10.3
32myeloma10.3
33pulmonary embolism10.3
34cardiomyopathy10.3
35adamantinous craniopharyngioma10.3APOH, F2
36nephrolithiasis10.3MTHFR, SERPINE1
37uniparental disomy of 610.3THBD, VWF
38mediastinum rhabdomyosarcoma10.3F2, F5
39maxillary sinus cholesteatoma10.3F2, F5, SERPINC1
40type 2n von willebrand disease10.3F8, VWF
41pregnancy loss, recurrent 110.3APOH, F5, MTHFR
42tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.3F8, VWF
43hepatoblastoma10.3F2, F5, SERPINC1
44hemorrhagic proctocolitis10.3F2, F3, SERPINC1
45testicular brenner tumor10.3F2, F5, MTHFR
46arthritis10.3APOH, SERPINE1
47factor v and factor viii, combined deficiency of10.3F5, F8
48suppurative uveitis10.3F2, F3
49papilloma10.3APOH, F2
50familial hemangioma10.3F8, 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 for Thrombophilia Due to Activated Protein C Resistance

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Symptoms by clinical synopsis from OMIM:

188055

Clinical features from OMIM:

188055

HPO human phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 deep venous thrombosis HP:0002625
3 adult onset HP:0003581
4 prolonged partial thromboplastin time HP:0003645
5 resistance to activated protein c HP:0012175
6 preeclampsia HP:0100602
7 hypercoagulability HP:0100724

Drugs & Therapeutics for Thrombophilia Due to Activated Protein C Resistance

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydroxychloroquineapproved128118-42-33652
Synonyms:
(+-)-Hydroxychloroquine
(┬▒)-hydroxychloroquine
118-42-3
2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol
2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol
2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol
2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol
2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol
5-22-10-00280 (Beilstein Handbook Reference)
7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline
7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline
7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline
747-36-4 (sulfate (1:1) salt)
AC1L1GEW
BRN 0253894
C07043
C18H26ClN3O
CHEMBL1535
CID3652
D08050
DB01611
DivK1c_000942
EINECS 204-249-8
Gen-Hydroxychloroquine 200mg Tablets
HCQ
HMS502P04
Hidroxicloroquina
Hidroxicloroquina [INN-Spanish]
Hydroxychlorochin
 
Hydroxychloroguine
Hydroxychloroquine (INN)
Hydroxychloroquine Sulfate
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquine sulfate
Hydroxychloroquinum
Hydroxychloroquinum [INN-Latin]
IDI1_000942
Idrossiclorochina
Idrossiclorochina [DCIT]
KBio1_000942
LS-66614
MolPort-003-847-792
NCGC00159483-02
NINDS_000942
NSC4375
Oxichlorochine
Oxichlorochinum
Oxichloroquine
Oxychlorochin
Oxychloroquine
PlaqueN/A
Plaquenil
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
2Annexin A513

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of HCQ on AnxA5 Resistance Assay in Antiphospholipid (aPL) Positive Patients With and Without Systemic Lupus Erythematosus (SLE)RecruitingNCT01475149

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

Genetic Tests for Thrombophilia Due to Activated Protein C Resistance

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

id Genetic test Affiliating Genes
1 Thrombophilia Due to Activated Protein C Resistance24
2 Thrombophilia Due to Factor V Leiden24

Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

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Animal Models for Thrombophilia Due to Activated Protein C Resistance or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8F2, F3, F5, F9, FGA, SERPINC1
2MP:00053708.4F5, F9, FGA, PLG, SERPINC1, SERPINE1
3MP:00107718.2F2, F3, F5, FGA, MTHFR, PLG
4MP:00053897.4F10, F2, F8, FGA, MTHFR, PLAT
5MP:00036317.3F2, F3, F5, FGA, MTHFR, PLAT
6MP:00053856.8F10, F2, F3, F5, F9, FGA
7MP:00053876.6F2, F3, F8, F9, FGA, PLAT
8MP:00107685.9APOH, F10, F2, F3, F5, F8
9MP:00053975.9F2, F3, F8, F9, FGA, PF4
10MP:00053764.7APOH, F10, F2, F3, F5, F8

Publications for Thrombophilia Due to Activated Protein C Resistance

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Articles related to Thrombophilia Due to Activated Protein C Resistance:

idTitleAuthorsYear
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

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

67
id Symbol AA change Variation ID SNP ID
1F5p.Arg334ThrVAR_013621rs118203906
2F5p.Arg2102HisVAR_017329
3F5p.Ile387ThrVAR_032698
4F5p.Cys613ArgVAR_032699

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1F5NM_000130.4(F5): c.1001G> C (p.Arg334Thr)single nucleotide variantPathogenicrs118203906GRCh37Chr 1, 169524537: 169524537
2F5NM_000130.4(F5): c.439G> T (p.Glu147Ter)single nucleotide variantPathogenicrs118203912GRCh37Chr 1, 169529939: 169529939
3F5NM_000130.4(F5): c.1160T> C (p.Ile387Thr)single nucleotide variantPathogenicrs118203911GRCh37Chr 1, 169521931: 169521931

Expression for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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

Pathways for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5F2, FGA, VWF
2
Show member pathways
9.5F2, FGA, VWF
39.5F10, F2, F9
4
Show member pathways
9.5F10, F2, F9
59.1PLAT, PLG, SERPINE1
69.0FGA, PLAT, PLG
7
Show member pathways
8.6F2, MTHFR, PLAT, PLG, SERPINE1
88.6PLAT, PLG, SERPINE1, SERPINF2
9
Show member pathways
7.9F10, F2, F3, F5, F8, F9
10
Show member pathways
7.1F3, F5, F8, FGA, PF4, PLG
11
Show member pathways
5.7F10, F2, F3, F5, F8, F9
12
Show member pathways
5.2F10, F2, F3, F5, F8, F9
13
Show member pathways
5.2F10, F2, F3, F5, F8, F9

GO Terms for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:003123310.7F10, F3
2ER to Golgi transport vesicleGO:003013410.6F5, F8
3fibrinogen complexGO:000557710.3FGA, SERPINF2
4platelet alpha granuleGO:003109110.3F5, FGA, VWF
5Golgi lumenGO:000579610.0F10, F2, F9
6endoplasmic reticulum lumenGO:00057889.3F10, F2, F5, F8, F9
7blood microparticleGO:00725629.1F2, FGA, PLG, SERPINC1, SERPINF2
8extracellular matrixGO:00310129.0APOH, F2, F3, PLAT, SERPINE1, VWF
9platelet alpha granule lumenGO:00310937.9F5, F8, FGA, PF4, PLG, SERPINE1
10cell surfaceGO:00099867.8APOH, F3, FGA, PLAT, PLG, SERPINF2
11plasma membraneGO:00058867.1F10, F2, F3, F5, F8, F9
12extracellular exosomeGO:00700625.7APOH, F2, F3, F9, FGA, PLAT
13extracellular spaceGO:00056155.3APOH, F2, F3, F5, F8, F9
14extracellular regionGO:00055764.7F10, F2, F5, F8, F9, FGA

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of platelet activationGO:001054410.5F2, THBD
2regulation of blood coagulationGO:003019310.5APOH, F2
3negative regulation of plasminogen activationGO:001075710.3SERPINE1, SERPINF2
4positive regulation of blood coagulationGO:003019410.2APOH, F2, SERPINE1
5response to woundingGO:000961110.2F2, F3, VWF
6negative regulation of blood coagulationGO:003019510.2APOH, SERPINE1, THBD
7blood coagulation, extrinsic pathwayGO:000759810.2F10, F3, F9
8peptidyl-glutamic acid carboxylationGO:001718710.1F10, F2, F9
9plasminogen activationGO:00316399.8APOH, FGA, PLAT
10acute-phase responseGO:00069539.6F2, F8, FGA, SERPINF2
11post-translational protein modificationGO:00436879.4F10, F2, F5, F8, F9
12blood coagulation, intrinsic pathwayGO:00075979.3APOH, F10, F2, F8, F9, VWF
13negative regulation of fibrinolysisGO:00519188.9APOH, F2, PLG, SERPINE1, SERPINF2, THBD
14extracellular matrix organizationGO:00301988.8FGA, PLG, SERPINE1, VWF
15proteolysisGO:00065088.7F10, F2, F9, PLAT, PLG
16fibrinolysisGO:00427308.6F2, FGA, PLAT, PLG, SERPINE1, SERPINF2
17cellular protein metabolic processGO:00442678.4F10, F2, F5, F8, F9, FGA
18platelet degranulationGO:00025767.8F5, F8, FGA, PF4, PLG, SERPINE1
19platelet activationGO:00301686.8F2, F5, F8, FGA, PF4, PLG
20blood coagulationGO:00075964.8APOH, F10, F2, F3, F5, F8

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

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.9APOH, F10, F3
2glycoprotein bindingGO:00019489.8APOH, PLAT, VWF
3serine-type endopeptidase inhibitor activityGO:00048679.4SERPINC1, SERPINE1, SERPINF2
4protease bindingGO:00020209.3F3, SERPINC1, SERPINE1, SERPINF2, VWF
5serine-type endopeptidase activityGO:00042528.7F10, F2, F9, PLAT, PLG
6receptor bindingGO:00051028.2F2, FGA, PLAT, PLG, SERPINE1

Sources for Thrombophilia Due to Activated Protein C Resistance

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet