THPH1
MCID: THR092
MIFTS: 54

Thrombophilia Due to Thrombin Defect (THPH1) malady

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Thrombophilia Due to Thrombin Defect

Aliases & Descriptions for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 54 66 13
Venous Thromboembolism 54 66 3 69
Venous Thrombosis 66 29 52 69
Thromboembolism 54 52 69
Venous Thrombosis, Protection Against 54
Venous Thrombosis, Susceptibility to 24
Thrombophilia Due to Factor 2 Defect 66
Susceptibility to Venous Thrombosis 24
Thph1 66

Characteristics:

HPO:

32
thrombophilia due to thrombin defect:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 54 188050
MeSH 42 D019851
ICD10 33 D68.5

Summaries for Thrombophilia Due to Thrombin Defect

OMIM : 54 Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic,... (188050) more...

MalaCards based summary : Thrombophilia Due to Thrombin Defect, also known as venous thromboembolism, is related to lung cancer and essential thrombocythemia, 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. The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are homeostasis/metabolism and cardiovascular system

CDC : 3 Learn more about travel and blood clots

UniProtKB/Swiss-Prot : 66 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 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 Thrombin Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 469)
id Related Disease Score Top Affiliating Genes
1 lung cancer 29.9 APOH F5 MTHFR
2 essential thrombocythemia 29.4 F2 F3 F8 SERPINC1 VWF
3 lupus erythematosus 29.4 F3 PLAT SERPINC1 VWF
4 stroke, ischemic 29.2 F2 F3 F5 F8
5 central retinal artery occlusion 29.1 APOH F2 F3 MTHFR SERPINC1
6 craniopharyngioma 29.1 F3 SERPINE1 THBD
7 myeloproliferative neoplasm 29.0 F10 F2 F3 F8 SERPINC1 VWF
8 myotonic dystrophy 28.5 F10 F2 F3 F5 F8 VWF
9 myocardial infarction 27.5 CBS F10 F13A1 F2 F3 F5
10 chronic thromboembolic pulmonary hypertension 12.2
11 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 11.9
12 thrombophilia, x-linked, due to factor ix defect 11.5
13 protein c deficiency 11.0
14 peripartum cardiomyopathy 11.0
15 atrial fibrillation, familial, 7 10.8
16 atrial fibrillation, familial, 12 10.8
17 thrombophilia due to protein c deficiency, autosomal recessive 10.8
18 atrial fibrillation, familial, 6 10.8
19 atrial fibrillation, familial, 9 10.8
20 atrial fibrillation, familial, 13 10.8
21 atrial fibrillation, familial, 3 10.8
22 coumarin resistance 10.8
23 atrial fibrillation, familial, 10 10.8
24 atrial fibrillation, familial, 11 10.8
25 atrial fibrillation, familial, 4 10.8
26 homocystinuria, b6-responsive and nonresponsive types 10.8
27 dysfibrinogenemia, congenital 10.8
28 atrial fibrillation, familial, 14 10.8
29 pulmonary hypertension 10.7
30 brugada syndrome 7 10.6
31 pulmonary hypertension, primary, 4 10.6
32 atrial fibrillation 15 10.6
33 thrombophilia due to antithrombin iii deficiency 10.6
34 thrombophilia due to heparin cofactor ii deficiency 10.6
35 mthfr gene mutation 10.6
36 myl4-related familial atrial fibrillation 10.6
37 atrial fibrillation, familial, 2 10.6
38 atrial fibrillation, familial, 8 10.6
39 atrial fibrillation, familial, 1 10.6
40 afibrinogenemia, congenital 10.6
41 long qt syndrome-10 10.6
42 multiple familial trichoepithelioma 10.3 F5 MTHFR
43 congenital insensitivity to pain with severe intellectual disability 10.3 F2 F5
44 med13l syndrome 10.3 APOH F5
45 hemarthrosis 10.3 F2 F3
46 thrombophilia 10.3
47 photosensitive epilepsy 10.3 F2 F5 MTHFR
48 achard thiers syndrome 10.3 APOH F5
49 villous adenoma 10.3 F2 F5 MTHFR
50 porphyria 10.3 F2 MTHFR

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 by clinical synopsis from OMIM:

188050

Clinical features from OMIM:

188050

Human phenotypes related to Thrombophilia Due to Thrombin Defect:

32
id Description HPO Frequency HPO Source Accession
1 thromboembolism 32 HP:0001907
2 pulmonary embolism 32 HP:0002204
3 deep venous thrombosis 32 HP:0002625
4 cerebral venous thrombosis 32 HP:0005305
5 recurrent thrombophlebitis 32 HP:0004419

MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 APOH F10 F13A1 F2 F3 F5
2 cardiovascular system MP:0005385 10.25 F10 F13A1 F2 F3 F5 PLAT
3 mortality/aging MP:0010768 10.19 HABP2 MTHFR PLAT PROC PROCR SERPINA10
4 hematopoietic system MP:0005397 10.14 THBD VWF PROC PROCR SERPINC1 SERPINE1
5 immune system MP:0005387 10.06 F2 F3 F8 HABP2 PLAT PROC
6 nervous system MP:0003631 9.85 F2 F3 F5 MTHFR PLAT PROC
7 reproductive system MP:0005389 9.56 F10 F13A1 F2 F8 MTHFR PLAT
8 respiratory system MP:0005388 9.17 SERPINE1 THBD F13A1 F2 F3 PLAT

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

Drugs for Thrombophilia Due to Thrombin Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 690)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 9005-49-6 772 46507594
2
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 9041-08-1
3 Nadroparin Approved Phase 4,Phase 3,Phase 2 9041-08-1
4
Benzocaine Approved Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
5
Rivaroxaban Approved Phase 4,Phase 3,Phase 2,Phase 1 366789-02-8
6
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1197-18-8 5526
7
Tranylcypromine Approved Phase 4 155-09-9 441233
8
Acenocoumarol Approved Phase 4,Phase 3 152-72-7 9052 54676537
9
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-78-2 2244
10
Salicylic acid Approved, Vet_approved Phase 4,Phase 3 69-72-7 338
11
Ticlopidine Approved Phase 4,Phase 3,Phase 2 55142-85-3 5472
12
Acetaminophen Approved Phase 4,Phase 2,Phase 1 103-90-2 1983
13
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1 60-32-2 564
14
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2 51-43-4 5816
15
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
16
Iron Approved Phase 4,Phase 3,Phase 1,Phase 2 7439-89-6 23925
17
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 50-28-2 5757 53477783
18
Norethindrone Approved Phase 4,Phase 3 68-22-4 6230
19
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1 81-81-2 6691 54678486
20
Nitric Oxide Approved Phase 4,Phase 2,Phase 1 10102-43-9 145068
21
Alprostadil Approved, Investigational Phase 4,Phase 2 745-65-3 149351
22
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
23
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
24
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1 73590-58-6 4594
25
Pantoprazole Approved Phase 4 102625-70-7 4679
26
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 2 61825-94-3 5310940 9887054 6857599, 9887054 43805
27
Bivalirudin Approved, Investigational Phase 4,Phase 2,Phase 1 128270-60-0 16129704
28
Tinzaparin Approved Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6, 9041-08-1 25244225
29
Phenprocoumon Approved Phase 4,Phase 3 435-97-2 9908 54680692
30
Cisplatin Approved Phase 4,Phase 3,Phase 1,Phase 2 15663-27-1 84093 441203 2767
31
Ethiodized oil Approved Phase 4,Phase 3,Phase 2 8008-53-5
32
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
33
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1 347396-82-1 459903
34
Verapamil Approved Phase 4 52-53-9 2520
35
Amiodarone Approved, Investigational Phase 4,Phase 3 1951-25-3 2157
36
Furosemide Approved, Vet_approved Phase 4,Phase 3 54-31-9 3440
37
Pancrelipase Approved Phase 4,Phase 3,Phase 2 53608-75-6
38
Xylometazoline Approved Phase 4 526-36-3 5709
39
Drospirenone Approved Phase 4 67392-87-4 68873
40
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
41
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
42
Streptokinase Approved Phase 4 9002-01-1
43
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
44
Ibuprofen Approved Phase 4 15687-27-1 3672
45
Ticagrelor Approved Phase 4,Phase 3,Phase 2,Phase 1 274693-27-5 9871419
46
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
47
alemtuzumab Approved, Investigational Phase 4 216503-57-0
48
Daclizumab Approved, Investigational Phase 4 152923-56-3
49
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
50
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994

Interventional clinical trials:

(show top 50) (show all 2143)
id Name Status NCT ID Phase
1 Prevention of Venous Thromboembolism in Patients With Acute Primary Intracerebral Hemorrhage Unknown status NCT00699465 Phase 4
2 Prophylaxis of Venous Thromboembolism After Bariatric Surgery Unknown status NCT02295150 Phase 4
3 Thromboprophylaxis and Bariatric Surgery Unknown status NCT00444652 Phase 4
4 Comparison of Low-Molecular-Weight Heparin (LMWH) and Unfractionated Heparin (UFH) in Combination With Thrombolytic Treatment of Acute Massive Pulmonary Thromboembolism Unknown status NCT01956955 Phase 4
5 Low Dose Rt-PA for Acute Normotensive Pulmonary Embolism With RVD Unknown status NCT01531829 Phase 4
6 Comparison of Topical and Infusion Tranexamic Acid After Total Knee Arthroplasty Unknown status NCT02453802 Phase 4
7 Anticoagulation in Stent Intervention Unknown status NCT01141153 Phase 4
8 Rosuvastatin for Preventing Deep Vein Thrombosis Unknown status NCT01021488 Phase 4
9 Residual Vein Thrombosis and the Optimal Duration of Low Molecular Weight Heparin in Cancer Patients With Deep Vein Thrombosis Unknown status NCT00450645 Phase 4
10 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
11 Efficacy of Low Molecular Weight Heparin in Superficial Vein Thrombosis Unknown status NCT01245998 Phase 4
12 Randomized Clinical Trial With Aminocaproic Acid in the Prevention of Exodontic Bleeding in Anticoagulants Patients Unknown status NCT02238288 Phase 4
13 Anti Xa Levels Under Two Different Regimens of Enoxaparin VTE Prophylaxis After Sleeve Gastrectomy for Morbid Obesity Unknown status NCT01970202 Phase 4
14 Antiaggregation in Primary Prevention of Vascular Access for Hemodialysis Unknown status NCT02055131 Phase 4
15 Tranexamic Acid in Major Vascular Surgery Unknown status NCT02335359 Phase 4
16 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
17 Iron Therapy in Colo-Rectal Neoplasm and Iron Deficiency Anemia: Intravenous Iron Sucrose Versus Oral Ferrous Sulphate. Unknown status NCT00199277 Phase 4
18 Incidence of Acute Cerebrovascular Events Using Either Minimized or Standard Cardiopulmonary Bypass Circuit Unknown status NCT00862160 Phase 4
19 PC-Trial: Patent Foramen Ovale and Cryptogenic Embolism Unknown status NCT00166257 Phase 4
20 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis Unknown status NCT01252420 Phase 4
21 Safety and Efficacy Study of OmniWave Endovascular System to Treat Deep Vein Thrombosis Unknown status NCT00640731 Phase 4
22 Re-STOP DVT: Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Unknown status NCT01063426 Phase 4
23 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4
24 Preventing the Development of Venous Insufficiency in Pregnant Women Through Use of Compression Stockings Unknown status NCT01793194 Phase 4
25 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
26 Global Vascular Effects of Intermittent Pneumatic Compression-Pilot Study Unknown status NCT01064323 Phase 4
27 The Use of Prostaglandin E1 in Head and Neck Microsurgery Unknown status NCT00733434 Phase 4
28 Hepatic Resection Versus Transcatheter Arterial Chemoembolization for Hepatocellular Carcinoma Complicated by Portal Vein Tumor Thrombosis Unknown status NCT01350206 Phase 4
29 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
30 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
31 Clinical Evaluation of the SNaP Wound Care System Unknown status NCT01113658 Phase 4
32 Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Trials(OPEN) Unknown status NCT01735227 Phase 4
33 Effectiveness of Blood Clot Medication With Concomitant Blood Pressure Medication Unknown status NCT00424281 Phase 4
34 Arterial Catheter to Monitor Glycemia Unknown status NCT01176279 Phase 4
35 Far Infrared Therapy on AV Fistula Flow, Endothelial Function and Echocardiography in ESRD Patients Unknown status NCT01138254 Phase 4
36 A RCT of Oral S-1 in Combination With Sequential HAIC of Oxaliplatin After TACE in Patients With Advanced HCC Unknown status NCT01997957 Phase 4
37 Comparing Bivalirudin Versus Heparin/ GP IIB/IIA in Patients Undergoing PCI Unknown status NCT00476944 Phase 4
38 Dalteparin for Primary Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients Completed NCT00966277 Phase 4
39 DULCIS (D-dimer and ULtrasonography in Combination Italian Study) Completed NCT00954395 Phase 4
40 12-h and 2-h Urokinase Regimes of Pulmonary Thromboembolism in China Completed NCT00799968 Phase 4
41 Low Dosage of rt-PA in the Treatment of Pulmonary Thromboembolism in China Completed NCT00781378 Phase 4
42 Nadroparin for the Initial Treatment of Pulmonary Thromboembolism Completed NCT00796692 Phase 4
43 Clinical Decision Rule Validation Study to Predict Low Recurrent Risk in Patients With Unprovoked Venous Thromboembolism Completed NCT00967304 Phase 4
44 Safety Study of Stopping Thromboprophylaxis Based on Ultrasound Results After Total Knee Replacement Completed NCT00362492 Phase 4
45 Improving Venous Thromboembolism Prophylaxis Completed NCT01304108 Phase 4
46 D-dimer to Establish Duration of Anticoagulation After Venous Thromboembolism Completed NCT00264277 Phase 4
47 Aspirin and Statins for Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus Completed NCT00371501 Phase 4
48 Rivaroxaban for the Prevention of Venous Thromboembolism in Asian Patients With Cancer Completed NCT01989845 Phase 4
49 D-dimer Levels During and After Anticoagulation in Patients With a Previous Venous Thromboembolism: Effects on the Risk of Recurrence Completed NCT00266045 Phase 4
50 EXCLAIM:Extended Prophylaxis for Venous ThromboEmbolism (VTE) in Acutely Ill Medical Patients With Prolonged Immobilization Completed NCT00077753 Phase 4

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

id Genetic test Affiliating Genes
1 Venous Thrombosis 29
2 Venous Thrombosis, Susceptibility to 29
3 Susceptibility to Venous Thrombosis 24 SERPINA10

Anatomical Context for Thrombophilia Due to Thrombin Defect

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

39
Lung

Publications for Thrombophilia Due to Thrombin Defect