Details of Disease

Disease Name

Thrombophilia

hypercoagulable; hypercoagulability state; hypercoagulability; excessive blood clotting

Definition

A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.

Disease Hierarchy

DIS9X3H6: Coagulation defect

DISQR7U7: Thrombophilia

Disease Identifiers

MONDO ID

MONDO_0002305

MESH ID

D019851

UMLS CUI

C0398623

MedGen ID

98306

HPO ID

HP:0100724

Orphanet ID

64738

SNOMED CT ID

234467004

General Information of Disease (ID: DISQR7U7)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 23 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASRGL1	TT4WT91	Limited	Genetic Variation	[1]
SERPIND1	TT8XSKJ	Limited	Biomarker	[2]
KLK3	TTS78AZ	Disputed	Altered Expression	[3]
ADAMTS13	TTUREBK	moderate	Biomarker	[4]
F13A1	TTXI2RA	moderate	Genetic Variation	[5]
ANXA5	TT2Z83I	Strong	Biomarker	[6]
APOH	TT2OUI9	Strong	Genetic Variation	[7]
ATXN3	TT6A17J	Strong	Genetic Variation	[8]
CPB2	TTP18AY	Strong	Biomarker	[9]
CYP2C9	TTR40YJ	Strong	Genetic Variation	[10]
F10	TTCIHJA	Strong	Biomarker	[11]
F11	TTDM4ZU	Strong	Genetic Variation	[12]
F12	TTRJSMV	Strong	Genetic Variation	[13]
F2RL2	TTVSEBF	Strong	Altered Expression	[14]
F8	TT1290U	Strong	Altered Expression	[15]
FGG	TTR31L7	Strong	Autosomal dominant	[16]
MUC16	TTC1PS3	Strong	Biomarker	[17]
PF4	TTSG7Q5	Strong	Altered Expression	[18]
PROC	TTZUXYS	Strong	Genetic Variation	[19]
SELP	TTE5VG0	Strong	Altered Expression	[20]
SERPINC1	TT4QPUL	Strong	Biomarker	[21]
VKORC1	TTEUC8H	Strong	Genetic Variation	[10]
VWF	TT3SZBT	Strong	Biomarker	[4]
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⏷ Show the Full List of 23 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A10	DTJYKDQ	Strong	Biomarker	[22]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ABO	DESIA7R	Strong	Biomarker	[23]
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This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELF3	OTUTLEQO	Limited	Genetic Variation	[24]
HABP2	OTAUIPW0	moderate	Biomarker	[25]
BLOC1S2	OTUR3E76	Strong	Biomarker	[26]
CORO7	OTG7MEAJ	Strong	Biomarker	[27]
FAH	OTGZA1YR	Strong	Biomarker	[28]
FGA	OTMIHY80	Strong	Autosomal dominant	[16]
FGB	OT6RKLI9	Strong	Autosomal dominant	[16]
FGG	OT5BJSEX	Strong	Autosomal dominant	[16]
GTPBP1	OTA9KV6C	Strong	Altered Expression	[29]
HRG	OTPLUFOG	Strong	Biomarker	[2]
LSP1	OTSPSIFO	Strong	Altered Expression	[30]
MARCHF1	OTI2EYO6	Strong	Genetic Variation	[31]
PC	OT6O0V51	Strong	Genetic Variation	[32]
PLSCR1	OTGY9B5T	Strong	Altered Expression	[33]
PPP1R3B	OTVCRXEZ	Strong	Genetic Variation	[24]
PPP1R3C	OTEU05TX	Strong	Genetic Variation	[24]
PRH1	OTQZ6HX0	Strong	Genetic Variation	[34]
PROCR	OTRHED17	Strong	Altered Expression	[35]
PROS1	OTXQWNOI	Strong	Biomarker	[36]
PSD4	OTEFB87Z	Strong	Biomarker	[37]
SERPINA10	OTZ8OZ67	Strong	Biomarker	[38]
SERPINB2	OT72QLZB	Strong	Altered Expression	[39]
SERPINF2	OTZGAF8B	Strong	Biomarker	[40]
SH2B2	OTEDHHDH	Strong	Genetic Variation	[41]
TCF21	OT393IMA	Strong	Biomarker	[27]
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⏷ Show the Full List of 25 DOT(s)

References

1	Disordered hemostasis associated with severely depressed fibrinolysis demonstrated using a simultaneous thrombin and plasmin generation assay during L-asparaginase induction therapy in pediatric acute lymphoblastic leukemia.Pediatr Blood Cancer. 2020 Jan;67(1):e28016. doi: 10.1002/pbc.28016. Epub 2019 Sep 25.
2	Multicentre evaluation of combined prothrombotic defects associated with thrombophilia in childhood. Childhood Thrombophilia Study Group.Eur J Pediatr. 1999 Dec;158 Suppl 3:S97-104. doi: 10.1007/pl00014359.
3	Testosterone Therapy in Men With Hypogonadism: An Endocrine Society Clinical Practice Guideline.J Clin Endocrinol Metab. 2018 May 1;103(5):1715-1744. doi: 10.1210/jc.2018-00229.
4	ADAMTS13 and von Willebrand factor are useful biomarkers for sorafenib treatment efficiency in patients with hepatocellular carcinoma.World J Gastrointest Oncol. 2019 May 15;11(5):424-435. doi: 10.4251/wjgo.v11.i5.424.
5	Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina.Croat Med J. 2019 Jun 13;60(3):212-220. doi: 10.3325/cmj.2019.60.212.
6	Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications.J Assist Reprod Genet. 2018 Jan;35(1):157-163. doi: 10.1007/s10815-017-1041-0. Epub 2017 Sep 13.
7	Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene.Curr Med Sci. 2018 Apr;38(2):379-385. doi: 10.1007/s11596-018-1889-y. Epub 2018 Apr 30.
8	Venous thromboembolism in young patients from western India: a study.Clin Appl Thromb Hemost. 2001 Apr;7(2):158-65. doi: 10.1177/107602960100700214.
9	Use of Viscoelastography in Malignancy-Associated Coagulopathy and Thrombosis: A Review.Semin Thromb Hemost. 2019 Jun;45(4):354-372. doi: 10.1055/s-0039-1688497. Epub 2019 May 20.
10	Warfarin dose requirement in patients having severe thrombosis or thrombophilia.Br J Clin Pharmacol. 2019 Aug;85(8):1684-1691. doi: 10.1111/bcp.13948. Epub 2019 Jun 17.
11	Edoxaban improves acute venous thromboembolism while preserving protein C and protein S levels.J Cardiol. 2018 Mar;71(3):305-309. doi: 10.1016/j.jjcc.2017.09.009. Epub 2017 Nov 1.
12	Thrombophilic families with inheritably associated high levels of coagulation factors VIII, IX and XI.J Thromb Haemost. 2003 Oct;1(10):2134-9. doi: 10.1046/j.1538-7836.2003.00410.x.
13	Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population.Stroke. 2004 Aug;35(8):1795-9. doi: 10.1161/01.STR.0000133127.68041.a3. Epub 2004 Jul 1.
14	Thrombin stimulates insulin secretion via protease-activated receptor-3.Islets. 2015;7(4):e1118195. doi: 10.1080/19382014.2015.1118195.
15	Increased factor VIII plays a significant role in plasma hypercoagulability phenotype of patients with cirrhosis.J Thromb Haemost. 2018 Jun;16(6):1132-1140. doi: 10.1111/jth.14011. Epub 2018 May 17.
16	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
17	A clinical research on the potential pathogenesis of somatic cancer related cerebral venous sinus thrombosis.Medicine (Baltimore). 2019 May;98(19):e15134. doi: 10.1097/MD.0000000000015134.
18	Cleavage of anti-PF4/heparin IgG by a bacterial protease and potential benefit in heparin-induced thrombocytopenia.Blood. 2019 May 30;133(22):2427-2435. doi: 10.1182/blood.2019000437. Epub 2019 Mar 27.
19	Protein C deficiency; PROC gene variants in a Danish population.Thromb Res. 2020 Jan;185:153-159. doi: 10.1016/j.thromres.2019.11.027. Epub 2019 Nov 30.
20	Platelet proteome reveals specific proteins associated with platelet activation and the hypercoagulable state in -thalassmia/HbE patients.Sci Rep. 2019 Apr 15;9(1):6059. doi: 10.1038/s41598-019-42432-2.
21	Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations.Hum Fertil (Camb). 2017 Jun;20(2):132-139. doi: 10.1080/14647273.2016.1255785. Epub 2016 Nov 18.
22	Protein C in thromboembolic disease.Semin Thromb Hemost. 1985 Oct;11(4):387-93. doi: 10.1055/s-2007-1004399.
23	ABO blood group and procoagulant factors: the hypercoagulation hypothesis ABO and Procoagulant Factors.Pediatr Res. 2019 Sep;86(3):316-322. doi: 10.1038/s41390-019-0445-1. Epub 2019 Jun 3.
24	Estrogen replacement therapy, thrombophilia, and atherothrombosis.Metabolism. 2002 Jun;51(6):724-32. doi: 10.1053/meta.2002.32729.
25	The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events.Thromb Res. 2012 Sep;130(3):441-4. doi: 10.1016/j.thromres.2012.02.009. Epub 2012 Mar 14.
26	Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls.J Vasc Surg. 2009 May;49(5):1235-41. doi: 10.1016/j.jvs.2008.12.017.
27	Ability of Thromboelastography to Detect Hypercoagulability: A Systematic Review and Meta-Analysis.J Orthop Trauma. 2020 Jun;34(6):278-286. doi: 10.1097/BOT.0000000000001714.
28	Dynamic changes of urinary proteins in a rat model of acute hypercoagulable state induced by tranexamic acid.J Cell Physiol. 2019 Jul;234(7):10809-10818. doi: 10.1002/jcp.27904. Epub 2018 Dec 7.
29	Beta 2-glycoprotein I deficiency and the risk of thrombosis.Thromb Haemost. 1992 Jun 1;67(6):649-53.
30	Physicochemical properties and anticoagulant activity of polyphenols derived from Lachnum singerianum.J Food Drug Anal. 2017 Oct;25(4):837-844. doi: 10.1016/j.jfda.2016.08.011. Epub 2016 Nov 11.
31	Apixaban and Rivaroxaban in Patients With Acute Venous Thromboembolism.Mayo Clin Proc. 2019 Jul;94(7):1242-1252. doi: 10.1016/j.mayocp.2018.09.022. Epub 2019 Feb 6.
32	Protein C Deficiency.Arch Pathol Lab Med. 2019 Oct;143(10):1281-1285. doi: 10.5858/arpa.2017-0403-RS. Epub 2019 Feb 1.
33	Increased expression of phospholipid scramblase 1 in monocytes from patients with systemic lupus erythematosus.J Rheumatol. 2010 Aug 1;37(8):1639-45. doi: 10.3899/jrheum.091420. Epub 2010 Jun 1.
34	Risk Factors for Thrombosis Development in Mexican Patients.Ann Vasc Surg. 2015 Nov;29(8):1625-32. doi: 10.1016/j.avsg.2015.05.035. Epub 2015 Aug 24.
35	Extracellular Vesicle Characteristics in -thalassemia as Potential Biomarkers for Spleen Functional Status and Ineffective Erythropoiesis.Front Physiol. 2018 Aug 30;9:1214. doi: 10.3389/fphys.2018.01214. eCollection 2018.
36	Compound heterozygous mutations identified in severe type I protein S deficiency impaired the secretion of protein S.J Clin Pathol. 2020 Jan;73(1):7-13. doi: 10.1136/jclinpath-2019-205956. Epub 2019 Aug 17.
37	Clot dynamics and mortality: The MA-R ratio.J Trauma Acute Care Surg. 2017 Oct;83(4):628-634. doi: 10.1097/TA.0000000000001637.
38	Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia.Br J Haematol. 2004 Oct;127(2):190-4. doi: 10.1111/j.1365-2141.2004.05189.x.
39	SerpinB2 deficiency in mice reduces bleeding times via dysregulated platelet activation.Platelets. 2019;30(5):658-663. doi: 10.1080/09537104.2018.1535702. Epub 2018 Nov 2.
40	Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction.Haematologica. 2018 Jul;103(7):1136-1142. doi: 10.3324/haematol.2018.187815. Epub 2018 Mar 15.
41	Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review.Blood Rev. 2018 Jul;32(4):272-279. doi: 10.1016/j.blre.2018.01.002. Epub 2018 Apr 20.