MCID: THR092
MIFTS: 61

Thrombophilia Due to Thrombin Defect

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Thrombophilia Due to Thrombin Defect

MalaCards integrated aliases for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 53 71 13
Venous Thrombosis 53 71 28 51 69
Venous Thromboembolism 53 71 3 69
Thromboembolism 53 51 69
Thrombophilia Due to Factor 2 Defect 53 71
Thph1 53 71
Venous Thromboembolism, Susceptibility to 53
Venous Thrombosis, Protection Against 53
Venous Thrombosis, Susceptibility to 28
Thromboembolism, Susceptibility to 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

31
thrombophilia due to thrombin defect:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Thrombophilia Due to Thrombin Defect

OMIM : 53 Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). (188050)

MalaCards based summary : Thrombophilia Due to Thrombin Defect, also known as venous thrombosis, is related to may-thurner syndrome and homocysteinemia, and has symptoms including thromboembolism, pulmonary embolism and deep venous thrombosis. An important gene associated with Thrombophilia Due to Thrombin Defect is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include lung, and related phenotypes are homeostasis/metabolism and cardiovascular system

CDC : 3 The Joint Commission selected CDC’s VTE educational resources for use in their Compendium of Resources, which provides healthcare providers and health educators with reliable, up-to-date patient education on VTE.Learn more about the compendium and access it here.

UniProtKB/Swiss-Prot : 71 Thrombophilia due to thrombin defect: A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation.

Related Diseases for Thrombophilia Due to Thrombin Defect

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 Thrombin Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 190)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 32.7 APOH F5
2 homocysteinemia 31.9 F2 F5 MTHFR SERPINC1 SERPINE1
3 post-thrombotic syndrome 31.8 F2 F5 F8 SERPINC1 SERPINE1
4 antithrombin iii deficiency 31.7 APOH F10 F2 F5 MTHFR SERPINC1
5 afibrinogenemia, congenital 30.2 F2 F3 F8 PLAT SERPINC1 SERPINE1
6 chronic thromboembolic pulmonary hypertension 12.4
7 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 12.3
8 prothrombin-related thrombophilia 11.3
9 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 11.3
10 thrombophilia, x-linked, due to factor ix defect 11.3
11 thrombophilia due to protein c deficiency, autosomal dominant 11.1
12 thrombophilia due to protein c deficiency, autosomal recessive 11.1
13 thrombophilia due to protein s deficiency, autosomal dominant 11.1
14 thrombophilia due to thrombomodulin defect 11.1
15 paracetamol poisoning 10.6 F2 F5
16 mesenteric vascular occlusion 10.5 F2 MTHFR
17 cerebral falx meningioma 10.5 F2 F3
18 ischemic neuropathy 10.5 F2 MTHFR
19 hemoglobin e disease 10.5 F2 F5
20 acanthamoeba keratitis 10.5 APOH F5
21 alpha-2-plasmin inhibitor deficiency 10.5 F2 SERPINC1
22 splenic infarction 10.4 APOH F2
23 intracranial sinus thrombosis 10.4 F3 SERPINC1
24 femoral neuropathy 10.4 F2 F3
25 papilledema 10.4 APOH F2
26 porencephaly 10.4 F2 F5 MTHFR
27 arteritic anterior ischemic optic neuropathy 10.4 F2 F5 MTHFR
28 breast reconstruction 10.4 APOH F8
29 factor v and factor viii, combined deficiency of, 2 10.4 F5 F8
30 hantavirus pulmonary syndrome 10.4 F2 F3
31 cerebral palsy 10.4 F2 F5 MTHFR
32 anterior cranial fossa meningioma 10.4 F2 F3
33 intestinal impaction 10.4 F2 F3 SERPINC1
34 giant hemangioma 10.4 F2 F3 SERPINC1
35 anterior spinal artery syndrome 10.3 F2 SERPINC1
36 pregnancy loss, recurrent 1 10.3 APOH F5 MTHFR
37 hemorrhagic fever 10.3 F2 F3 SERPINC1
38 vitamin k deficiency hemorrhagic disease 10.3 F2 F8
39 homocystinuria 10.3 F5 MTHFR SERPINC1
40 hepatitis a 10.3 F2 F3 SERPINC1
41 thrombocytosis 10.3 F2 F3 SERPINC1
42 scott syndrome 10.3 F10 F2 F5
43 endocarditis 10.3 APOH F2 SERPINC1
44 inferior vena cava interruption 10.3 F5 MTHFR SERPINE1
45 active peptic ulcer disease 10.3 F2 VWF
46 amaurosis fugax 10.3 F5 MTHFR SERPINE1
47 alcohol-related birth defect 10.3 F2 F3 F8
48 severe pre-eclampsia 10.3 APOH F5 SERPINC1
49 subendocardial myocardial infarction 10.3 F2 SERPINC1 SERPINE1
50 heparin-induced thrombocytopenia 10.3 F10 F3 SERPINC1

Comorbidity relations with Thrombophilia Due to Thrombin Defect via Phenotypic Disease Network (PDN): (show all 15)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Myocardial Ischemia Decubitus Ulcer
Deficiency Anemia Familial Atrial Fibrillation
Femoral Vein Thrombophlebitis Heart Disease
Hypertension, Essential Hypothyroidism
Ischemic Heart Disease Osteoporosis
Peripheral Vascular Disease Protein-Energy Malnutrition
Schizophreniform Disorder

Graphical network of the top 20 diseases related to Thrombophilia Due to Thrombin Defect:



Diseases related to Thrombophilia Due to Thrombin Defect

Symptoms & Phenotypes for Thrombophilia Due to Thrombin Defect

Symptoms via clinical synopsis from OMIM:

53
CardiovascularVascular:
thrombosis, recurrent
deep vein thrombosis

NeurologicCentralNervousSystem:
cerebral thrombosis

RespiratoryLung:
pulmonary embolism


Clinical features from OMIM:

188050

Human phenotypes related to Thrombophilia Due to Thrombin Defect:

31
# Description HPO Frequency HPO Source Accession
1 thromboembolism 31 HP:0001907
2 pulmonary embolism 31 HP:0002204
3 deep venous thrombosis 31 HP:0002625
4 cerebral venous thrombosis 31 HP:0005305
5 recurrent thrombophlebitis 31 HP:0004419

MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 PLAT F3 APOH F5 F10 F13A1
2 cardiovascular system MP:0005385 10.26 PLAT F3 F5 F10 F13A1 F2
3 hematopoietic system MP:0005397 10.2 PLAT F3 F8 F13A1 F2 SERPINE1
4 mortality/aging MP:0010768 10.16 PLAT F3 APOH F5 F10 F13A1
5 immune system MP:0005387 10.14 PLAT F3 F8 HABP2 F2 SERPINE1
6 integument MP:0010771 9.91 F3 F5 MTHFR F2 PLAT SERPINE1
7 nervous system MP:0003631 9.81 MTHFR F2 F3 F5 SERPINC1 PLAT
8 liver/biliary system MP:0005370 9.8 F5 HABP2 SERPINC1 SERPINE1 PROC THBD
9 reproductive system MP:0005389 9.56 PLAT F10 F8 F13A1 MTHFR F2
10 respiratory system MP:0005388 9.17 PLAT F3 F13A1 F2 SERPINE1 PROC

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

# Genetic test Affiliating Genes
1 Venous Thrombosis 28
2 Venous Thrombosis, Susceptibility to 28

Anatomical Context for Thrombophilia Due to Thrombin Defect

MalaCards organs/tissues related to Thrombophilia Due to Thrombin Defect:

38
Lung

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 1470)
# Title Authors Year
1
Diagnosis and Treatment of Cerebral Venous Thrombosis: A Review. ( 29441008 )
2018
2
The association between nonselective beta-blockers and portal venous thrombosis in cirrhotic patients: More questions on the horizon. ( 29451177 )
2018
3
Risk of Venous Thrombosis in Antithrombin Deficiency: A Systematic Review and Bayesian Meta-analysis. ( 29452444 )
2018
4
An assessment of deep venous thrombosis in Irish older adults in an acute medical assessment unit. ( 29441431 )
2018
5
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
2018
6
Coexistent Ipsilateral Internal Carotid Artery Occlusion and Cerebral Venous Thrombosis in Hepatitis C. ( 29349091 )
2018
7
Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis. ( 29175875 )
2018
8
Cutaneous lupus erythematosus and the risk of deep venous thrombosis and pulmonary embolism: A Danish nationwide cohort study. ( 28618892 )
2017
9
Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis. ( 28552956 )
2017
10
Endotoxaemia-augmented murine venous thrombosis is dependent on TLR-4 and ICAM-1, and potentiated by neutropenia. ( 27975098 )
2017
11
Portal venous thrombosis developing after torsion of a wandering spleen. ( 28256499 )
2017
12
Tissue Factor Pathway Inhibitor-1 Is a Valuable Marker for the Prediction of Deep Venous Thrombosis and Tumor Metastasis in Patients with Lung Cancer. ( 28246607 )
2017
13
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017
14
Thrombophilia Testing and Venous Thrombosis. ( 29211668 )
2017
15
Cerebral Venous Thrombosis with Papilloedema Secondary to Skull Base Plasmacytoma. ( 29339964 )
2017
16
Is real-time elastography helpful to differentiate acute from subacute deep venous thrombosis? A preliminary study. ( 28940429 )
2017
17
Association of Cerebral Venous Thrombosis and Intracranial Hypotension: Review of 3 Cases. ( 28623115 )
2017
18
Thrombophilia Testing and Venous Thrombosis. ( 28930509 )
2017
19
Atypical bone change of spine caused by epidural venous thrombosis in systemic lupus erythematosus with antiphospholipid syndrome. ( 28063414 )
2017
20
Thrombophilia Testing and Venous Thrombosis. ( 29215221 )
2017
21
Impact of Classical Risk Factors for Arterial or Venous Thrombosis in Patients With Antiphospholipid Syndrome. ( 28884609 )
2017
22
Predictive Factors for Developing Venous Thrombosis during Cisplatin-Based Chemotherapy in Testicular Cancer. ( 28514776 )
2017
23
Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the PILGRIM study. ( 27414984 )
2017
24
Pyomyositis Complicated by Deep Venous Thrombosis - A Unique Case of Reverse Lemierre's Syndrome. ( 28462553 )
2017
25
Human Infection with<i>Fusobacterium necrophorum</i>without Jugular Venous Thrombosis: A Varied Presentation of Lemierre's Syndrome. ( 29204301 )
2017
26
Edoxaban improves venous thrombosis via increasing hydrogen sulfide and homocysteine in rat model. ( 28944880 )
2017
27
Association Between the Lower Extremity Deep Venous Thrombosis, the Warfarin Maintenance Dose, and CYP2C9*3, CYP2D6*10, and CYP3A5*3 Genetic Polymorphisms: A Case-Control Study. ( 28872889 )
2017
28
Deep cerebral venous thrombosis mimicking influenza-associated acute necrotizing encephalopathy: a case report. ( 28950885 )
2017
29
Risk factors for arterial versus venous thrombosis in polycythemia vera: a single center experience in 587 patients. ( 29282357 )
2017
30
Successful treatment with rivaroxaban of cerebral venous thrombosis and bone marrow necrosis induced by pegaspargase: A case report and literature review. ( 29145310 )
2017
31
Cerebral venous thrombosis due to pheochromocytoma in a patient with Von Hippel Lindau mutation. ( 28488641 )
2017
32
Cerebral Venous Thrombosis in a Patient with Iron Deficiency Anemia and Thrombocytopenia: A Case Report. ( 29362628 )
2017
33
Factors Influencing the Incidence of Papilledema in Patients with Cerebral Venous Thrombosis. ( 29387676 )
2017
34
Major vessel venous thrombosis in patients of posttubercular chronic constrictive pericarditis undergoing pericardectomy: A rare scenario. ( 28701604 )
2017
35
The importance of post thrombotic syndrome as an outcome after deep venous thrombosis: A survey of Canadian thrombosis clinicians. ( 28942356 )
2017
36
A Hematological Menace: Multiple Venous Thrombosis Complicated by Acquired Factor VIII Deficiency. ( 27040655 )
2016
37
Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion. ( 27994217 )
2016
38
Study of priapism as a side effect of heparin therapy in deep venous thrombosis. ( 27728751 )
2016
39
Recurrent venous thrombosis in an adequately anticoagulated patient with pemphigus vulgaris. ( 26949375 )
2016
40
Morphometric MRI changes in intracranial hypertension due to cerebral venous thrombosis: a retrospective imaging study. ( 27180083 )
2016
41
MMP3 -1171 5A/6A Promoter Genotype Influences Serum MMP3 Levels and Is Associated with Deep Venous Thrombosis. ( 27177702 )
2016
42
Cerebral venous thrombosis presenting with intracerebral hemorrhage in a patient with paroxysmal nocturnal hemoglobinuria. ( 27076714 )
2016
43
Iatrogenic intracranial hypotension and cerebral venous thrombosis. ( 27288804 )
2016
44
Concurrent Factor V Leiden and Protein C Deficiency Presenting as Mesenteric Venous Thrombosis. ( 27097617 )
2016
45
Complement Activation in Arterial and Venous Thrombosis is Mediated by Plasmin. ( 27077125 )
2016
46
Cerebral venous thrombosis in a patient with acute postinfectious glomerulonephritis. ( 27194837 )
2016
47
Relationship between development of post-thrombotic syndrome and serial ultrasound, D-dimer, and factor VIII activity after a first deep venous thrombosis. ( 26946892 )
2016
48
Clinical case report: discitis osteomyelitis complicated by inferior vena cava venous thrombosis and septic pulmonary emboli. ( 27920864 )
2016
49
Endothelial cell protein C receptor gene 6936A/G and 4678G/C polymorphisms as risk factors for deep venous thrombosis. ( 26340463 )
2016
50
Thrombophilia in Klinefelter Syndrome With Deep Venous Thrombosis, Pulmonary Embolism, and Mesenteric Artery Thrombosis on Testosterone Therapy: A Pilot Study. ( 27582022 )
2016

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic,risk factor rs1799963 GRCh37 Chromosome 11, 46761055: 46761055

Expression for Thrombophilia Due to Thrombin Defect

Search GEO for disease gene expression data for Thrombophilia Due to Thrombin Defect.

Pathways for Thrombophilia Due to Thrombin Defect

Pathways related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 APOH F10 F13A1 F2 F3 F5
2
Show member pathways
12.63 F10 F13A1 F2 F3 F5 F8
3
Show member pathways
12.04 F2 MTHFR PLAT SERPINE1
4
Show member pathways
11.92 F2 PROC PROCR THBD
5 11.91 F10 F13A1 F2 F3 F5 F8
6
Show member pathways
11.69 F10 F2 PROC
7
Show member pathways
11.64 F10 F13A1 F2 F3 F5 F8
8 11.63 F3 SERPINE1 THBD
9 10.67 F10 F2 PROC
10 10.55 PLAT SERPINE1

GO Terms for Thrombophilia Due to Thrombin Defect

Cellular components related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.9 APOH F2 F3 F5 F8 HABP2
2 cell surface GO:0009986 9.8 APOH F3 PLAT PROCR THBD
3 endoplasmic reticulum lumen GO:0005788 9.73 F10 F2 F5 F8 PROC SERPINC1
4 extracellular matrix GO:0031012 9.72 APOH F3 PLAT SERPINE1 VWF
5 Golgi lumen GO:0005796 9.63 F10 F2 PROC
6 extracellular region GO:0005576 9.47 APOH F10 F13A1 F2 F3 F5
7 platelet alpha granule GO:0031091 9.43 F5 VWF
8 intrinsic component of external side of plasma membrane GO:0031233 9.37 F10 F3
9 platelet alpha granule lumen GO:0031093 9.35 F13A1 F5 F8 SERPINE1 VWF

Biological processes related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.99 F10 F2 HABP2 PLAT PROC
2 cellular protein metabolic process GO:0044267 9.86 F2 F5 PROC SERPINC1
3 leukocyte migration GO:0050900 9.85 F2 PROC PROCR THBD
4 ER to Golgi vesicle-mediated transport GO:0006888 9.83 F10 F2 F5 F8 PROC
5 platelet degranulation GO:0002576 9.8 APOH F13A1 F5 F8 SERPINE1 VWF
6 platelet activation GO:0030168 9.76 F2 F8 VWF
7 blood coagulation GO:0007596 9.73 F10 F13A1 F2 F3 F5 F8
8 regulation of blood coagulation GO:0030193 9.69 APOH F2 SERPINC1
9 fibrinolysis GO:0042730 9.67 F2 PLAT SERPINE1
10 negative regulation of blood coagulation GO:0030195 9.67 APOH PROC SERPINE1 THBD
11 signal peptide processing GO:0006465 9.65 F10 F2 PROC
12 positive regulation of blood coagulation GO:0030194 9.63 APOH F2 SERPINE1
13 negative regulation of proteolysis GO:0045861 9.6 F2 PLAT
14 plasminogen activation GO:0031639 9.58 APOH PLAT
15 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F10 F2 PROC
16 negative regulation of platelet activation GO:0010544 9.57 F2 THBD
17 negative regulation of fibrinolysis GO:0051918 9.56 APOH F2 SERPINE1 THBD
18 blood coagulation, intrinsic pathway GO:0007597 9.55 APOH F10 F2 F8 VWF
19 negative regulation of coagulation GO:0050819 9.54 PROC PROCR
20 blood coagulation, extrinsic pathway GO:0007598 9.52 F10 F3
21 hemostasis GO:0007599 9.36 F10 F13A1 F2 F3 F5 F8

Molecular functions related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.77 F10 F2 HABP2 PROC THBD
2 peptidase activity GO:0008233 9.65 F10 F2 HABP2 PLAT PROC
3 phospholipid binding GO:0005543 9.5 APOH F10 F3
4 protease binding GO:0002020 9.46 F3 SERPINC1 SERPINE1 VWF
5 serine-type peptidase activity GO:0008236 9.35 F10 F2 HABP2 PLAT PROC
6 serine-type endopeptidase activity GO:0004252 9.1 F10 F2 F3 HABP2 PLAT PROC

Sources for Thrombophilia Due to Thrombin Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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