MCID: THR082
MIFTS: 48

Thrombophilia Due to Activated Protein C Resistance malady

Categories: Genetic diseases (common), Blood diseases, Immune diseases

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

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

Name: Thrombophilia Due to Activated Protein C Resistance 49 11 67 24 65
Thrombophilia Due to Factor V Leiden 49 67 24
Activated Protein C Resistance 67 65
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

Characteristics:

HPO:

61
thrombophilia due to activated protein c resistance:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 188055
MeSH36 D020016
UMLS65 C0600433, C1861171

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 budd-chiari syndrome and thrombophilia due to thrombin defect, and has symptoms including hypercoagulability, preeclampsia 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 are AGE-RAGE signaling pathway in diabetic complications and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include heart, and related mouse phenotypes are liver/biliary system and integument.

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.

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

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 179)
idRelated DiseaseScoreTop Affiliating Genes
1budd-chiari syndrome31.4APOH, F2, F5, MTHFR, SERPINC1
2thrombophilia due to thrombin defect30.8APOH, F10, F2, F5, SERPINC1
3factor v leiden thrombophilia11.9
4mayer-rokitansky-kuster-hauser syndrome10.6APOH, F5
5amelia cleft lip palate hydrocephalus iris coloboma10.5F5, MTHFR
6muller barth menger syndrome10.5F5, MTHFR
7benign epilepsy with centrotemporal spikes10.5F3, F5
8central nervous system osteosarcoma10.5F2, F3
9cavernous sinus thrombosis10.5F5, MTHFR
10lateral sinus thrombosis10.5F5, SERPINC1
11epiglottitis10.5F2, F3
12breast abscess10.5F5, MTHFR
13pulmonary fibrosis, familial10.5F2, MTHFR
14nephrolithiasis10.5MTHFR, SERPINE1
15internuclear ophthalmoplegia10.5F2, F5
16sertoli cell tumor10.5F3, F5, SERPINC1
17vaginal villous adenoma10.5F2, F3
18tall stature-scoliosis-macrodactyly of the great toes syndrome10.4APOH, F2, F5
19cerebrovascular disease10.4F2, F5, SERPINC1
20pregnancy loss, recurrent 110.4APOH, F5, MTHFR
21type 2n von willebrand disease10.4F8, VWF
22tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.4F8, VWF
23crohn's disease10.4F5, VWF
24acrodermatitis10.4F2, F5, SERPINC1
25factor v and factor viii, combined deficiency of10.4F5, F8
26microscopic colitis10.4F2, F5
27kidney sarcoma10.4F2, F3, SERPINC1
28pontocerebellar hypoplasia10.4F2, F5, MTHFR
29diverticulitis of colon10.4F2, F5, MTHFR
30acral dysostosis dyserythropoiesis syndrome10.4F8, VWF
31oral squamous cell carcinoma10.4F2, F5, MTHFR
32homocystinuria due to cbs deficiency10.4F2, F5, MTHFR
33meniere's disease10.4APOH, F2, F3
34azygos continuation of the inferior vena cava10.4F5, MTHFR, SERPINE1
35pneumoconiosis10.4APOH, F2, SERPINC1
36herpes gestationis10.4F2, F3
37moderately severe hemophilia a10.4F2, F5, F8
38bernard-soulier syndrome, type a210.4F2, F5, MTHFR
39basilar artery insufficiency10.4F2, F3, SERPINC1
40inferior myocardial infarction10.4F2, SERPINC1, SERPINE1
41type 2m von willebrand disease10.4F8, VWF
42histidine metabolism disease10.4F5, MTHFR, SERPINC1
43psychologic vaginismus10.4F5, MTHFR, SERPINE1
44sarcomatous intrahepatic cholangiocarcinoma10.4APOH, F8, THBD
45irak4 deficiency10.4F10, F2, F5
46cervical squamous cell carcinoma10.4F2, F5, MTHFR
47acquired thrombocytopenia10.3F2, F3, VWF
48congenital diaphragmatic hernia10.3F3, SERPINE1, THBD
49spinocerebellar atrophy10.3APOH, F5, MTHFR, SERPINC1
50cerebellar agenesis10.3PLAT, 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 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:

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

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Hydroxychloroquineapproved136118-42-33652
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
2Immunoglobulins4477
3Immunologic Factors18483
4Antibodies, Antiphospholipid25
5Antibodies4477
6Annexin 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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Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

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

33
Heart

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:00053708.5F5, F9, FGA, PLG, SERPINC1, SERPINE1
2MP:00107718.3F2, F3, F5, FGA, MTHFR, PLG
3MP:00053897.7F10, F2, F8, FGA, MTHFR, PLAT
4MP:00036317.5F2, F3, F5, FGA, MTHFR, PLAT
5MP:00053876.4F2, F3, F8, F9, FGA, PLAT
6MP:00053856.4F10, F2, F3, F5, F9, FGA
7MP:00053976.2F2, F3, F8, F9, FGA, PF4
8MP:00107685.8APOH, F10, F2, F3, F5, F8
9MP:00053764.8APOH, 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
Treatment of leukopenia with granulocyte-macrophage colony-stimulating factor after heart transplantation. (7482859)
1995

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 pathwaysScoreTop Affiliating Genes
19.7F3, SERPINE1, THBD
29.5F2, FGA, VWF
3
Show member pathways
9.5F2, FGA, VWF
4
Show member pathways
9.5F10, F2, F9
59.5F10, F2, F9
69.1PLAT, PLG, SERPINE1
79.0FGA, PLAT, PLG
8
Show member pathways
8.6F2, MTHFR, PLAT, PLG, SERPINE1
98.6PLAT, PLG, SERPINE1, SERPINF2
10
Show member pathways
7.9F10, F2, F3, F5, F8, F9
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
4.9APOH, F10, F2, F3, F5, F8

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:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.9F5, FGA, VWF
2endoplasmic reticulum lumenGO:00057889.3F10, F5, F8, F9

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood coagulationGO:003019310.6APOH, F2
2positive regulation of blood coagulationGO:003019410.4F2, SERPINE1
3positive regulation of collagen biosynthetic processGO:003296710.3F2, SERPINF2
4negative regulation of blood coagulationGO:003019510.1APOH, SERPINE1, THBD
5response to woundingGO:000961110.0F2, F3, VWF
6signal peptide processingGO:000646510.0F10, F2, F9
7acute-phase responseGO:00069539.8F8, FGA, SERPINF2
8plasminogen activationGO:00316399.8APOH, FGA
9fibrinolysisGO:00427309.6FGA, PLG, SERPINE1
10platelet activationGO:00301689.5FGA, PF4, SERPINE1
11post-translational protein modificationGO:00436879.3F10, F5, F8, F9
12cellular protein metabolic processGO:00442678.8F2, F5, F8, FGA, PLG
13platelet degranulationGO:00025767.9APOH, FGA, PF4, PLG, SERPINE1, SERPINF2
14blood coagulationGO:00075966.9F10, F2, F5, F8, F9, FGA

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