THPH1
MCID: THR092
MIFTS: 69

Thrombophilia Due to Thrombin Defect (THPH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thrombophilia Due to Thrombin Defect

MalaCards integrated aliases for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 57 75 13
Venous Thrombosis 57 75 29 55 6 73
Venous Thromboembolism 57 75 3 73
Thromboembolism 57 55 6 73
Venous Thromboembolism, Susceptibility to 57 6
Venous Thrombosis, Protection Against 57 6
Thrombophilia Due to Factor 2 Defect 57 75
Venous Thrombosis, Susceptibility to 29 6
Thph1 57 75
Thromboembolism, Susceptibility to 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

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


Classifications:



Summaries for Thrombophilia Due to Thrombin Defect

OMIM : 57 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 antithrombin iii deficiency and post-thrombotic syndrome. An important gene associated with Thrombophilia Due to Thrombin Defect is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include lung, testes and brain, and related phenotypes are thromboembolism and pulmonary embolism

CDC : 3 Venous thromboembolism (VTE), also known as blood clots, is an underdiagnosed and serious, but preventable medical condition. It is important to know about VTE because it can happen to anybody at any age and cause serious illness, disability, and in some cases, death. The good news is that VTE can be prevented and treated if discovered early.

UniProtKB/Swiss-Prot : 75 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
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 816)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 32.3 APOH F10 F2 F5 MTHFR SERPINC1
2 post-thrombotic syndrome 32.2 F2 F5 F8 SERPINC1 SERPINE1
3 protein s deficiency 32.2 APOH F2 F3 F5 MTHFR SERPINC1
4 homocysteinemia 32.1 CBS F2 F5 MTHFR SERPINC1
5 portal vein thrombosis 32.0 APOH F2 F5 MTHFR SERPINC1 SERPINE1
6 may-thurner syndrome 30.8 APOH F5
7 thrombophilia due to activated protein c resistance 30.6 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
8 heparin-induced thrombocytopenia 30.4 F10 F3 SERPINC1
9 protein c deficiency 30.4 F2 F5 MTHFR PROC SERPINC1 THBD
10 papilledema 30.3 APOH F2
11 lemierre's syndrome 30.1 F3 MTHFR SERPINE1
12 homocystinuria 30.1 CBS F5 MTHFR SERPINC1
13 factor xii deficiency 30.0 APOH F3 F5 SERPINC1
14 thrombasthenia 30.0 F2 F3 F5 MTHFR
15 budd-chiari syndrome 30.0 APOH F2 F3 F5 MTHFR SERPINC1
16 thrombocytosis 29.9 F2 F3 SERPINC1
17 osteonecrosis 29.9 F2 MTHFR SERPINC1 SERPINE1
18 behcet syndrome 29.9 APOH F5 SERPINC1 THBD
19 intracranial embolism 29.9 F2 PLAT SERPINC1
20 sticky platelet syndrome 29.9 F5 SERPINC1 SERPINE1
21 pulmonary embolism 29.9 VWF SERPINE1 SERPINC1 PLAT MTHFR F5
22 intracranial hypertension 29.9 APOH F2 F3 F5 MTHFR SERPINC1
23 eclampsia 29.9 F2 MTHFR SERPINC1 THBD
24 hemorrhagic fever 29.9 F2 F3 SERPINC1
25 stroke, ischemic 29.9 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
26 mesenteric vascular occlusion 29.9 F2 MTHFR
27 factor xi deficiency 29.8 F2 F3 SERPINC1 THBD
28 thrombophlebitis 29.8 APOH F2 F5 F8 MTHFR PLAT
29 breast reconstruction 29.8 APOH F8
30 patent foramen ovale 29.8 APOH F13A1 F2 F5 MTHFR PLAT
31 vasculitis 29.8 APOH THBD VWF
32 varicose veins 29.7 F2 F5 MTHFR SERPINC1 VWF
33 cerebral sinovenous thrombosis 29.7 APOH F2 F3 F5
34 venous insufficiency 29.7 F2 PLAT SERPINE1 VWF
35 coronary artery anomaly 29.7 F2 F5 PLAT SERPINE1
36 severe pre-eclampsia 29.7 APOH F5 SERPINC1
37 endocarditis 29.7 APOH F2 PLAT SERPINC1
38 von willebrand's disease 29.7 F2 F3 F5 F8 VWF
39 ischemic colitis 29.7 APOH F2 F5 SERPINC1 SERPINE1
40 infective endocarditis 29.6 APOH F2 SERPINE1
41 sagittal sinus thrombosis 29.6 F2 F3 F5 SERPINC1
42 thrombosis 29.6 VWF THBD SERPINE1 SERPINC1 PROCR PROC
43 retinal vascular occlusion 29.6 APOH F2 F5 MTHFR SERPINC1
44 buerger disease 29.6 APOH F2 MTHFR SERPINE1
45 placenta disease 29.6 APOH F3 F5 MTHFR SERPINC1
46 gastroschisis 29.5 F2 F5 MTHFR
47 factor vii deficiency 29.5 F10 F2 F3 F8
48 retinal vein occlusion 29.5 APOH F2 F5 MTHFR SERPINC1 SERPINE1
49 spinal cord infarction 29.5 APOH F2 F5 MTHFR SERPINC1
50 active peptic ulcer disease 29.5 F2 VWF

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:

57
Respiratory Lung:
pulmonary embolism

Neurologic Central Nervous System:
cerebral thrombosis

Cardiovascular Vascular:
deep vein thrombosis
thrombosis, recurrent


Clinical features from OMIM:

188050

Human phenotypes related to Thrombophilia Due to Thrombin Defect:

32
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 APOH F10 F13A1 F2 F3 F5
2 cardiovascular system MP:0005385 10.27 F10 F13A1 F2 F3 F5 PLAT
3 hematopoietic system MP:0005397 10.17 F13A1 F2 F3 F8 PLAT PROC
4 immune system MP:0005387 10.11 F2 F3 F8 HABP2 PLAT PROC
5 mortality/aging MP:0010768 10.09 APOH F10 F13A1 F2 F3 F5
6 integument MP:0010771 9.92 F2 F3 F5 MTHFR PLAT PLOD1
7 liver/biliary system MP:0005370 9.8 F5 HABP2 MTHFR PROC SERPINC1 SERPINE1
8 reproductive system MP:0005389 9.56 F10 F13A1 F2 F8 MTHFR PLAT
9 respiratory system MP:0005388 9.17 F13A1 F2 F3 PLAT PROC SERPINE1

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 29 F13A1 F2 HABP2 MTHFR
2 Venous Thrombosis, Susceptibility to 29

Anatomical Context for Thrombophilia Due to Thrombin Defect

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

41
Lung, Testes, Brain, Liver, Bone, Endothelial, Heart

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 2528)
# Title Authors Year
1
Development of a dural arteriovenous fistula subsequent to cerebral venous thrombosis by venous hypertension. ( 30555948 )
2019
2
Radiation- and contrast medium-free catheter-directed thrombolysis for early pregnancy-related massive iliocaval deep venous thrombosis. ( 30385135 )
2019
3
Post-traumatic superior mesenteric venous thrombosis with subsequent extension to the portal vein. ( 30405866 )
2019
4
Relationship between genetic polymorphism of MTHFR C677T and lower extremities deep venous thrombosis. ( 30303041 )
2019
5
Spontaneous intracranial hypotension complicated by cerebral venous thrombosis. ( 29955241 )
2018
6
Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis. ( 29175875 )
2018
7
Adalimumab-based treatment versus DMARDs for venous thrombosis in BehAset syndrome. A retrospective study of 70 patients with vascular involvement. ( 29676522 )
2018
8
Prevention of recurrent venous thrombosis and post-thrombotic syndrome. ( 29795059 )
2018
9
Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis. ( 29747524 )
2018
10
May-Thurner Syndrome Presenting as Acute Unexplained Deep Venous Thrombosis. ( 29793013 )
2018
11
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
2018
12
Coexistent Ipsilateral Internal Carotid Artery Occlusion and Cerebral Venous Thrombosis in Hepatitis C. ( 29349091 )
2018
13
Serum neuron specific enolase may be a marker to predict the severity and outcome of cerebral venous thrombosis. ( 29128928 )
2018
14
Recurrent Iliofemoral Venous Thrombosis in the Setting of May-Thurner Syndrome as the Presenting Symptom of Behcet's Disease. ( 29481922 )
2018
15
An assessment of deep venous thrombosis in Irish older adults in an acute medical assessment unit. ( 29441431 )
2018
16
Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis. ( 29720864 )
2018
17
Symptomatic bilateral pulmonary embolism without deep venous thrombosis in an adolescent following arthroscopic anterior cruciate ligament reconstruction: a case report and review of the literature. ( 29976241 )
2018
18
Cancer and risk of cerebral venous thrombosis: a case-control study. ( 29125690 )
2018
19
False aneurysm of the popliteal artery complicated by a deep venous thrombosis revealing an exostosis in a 20-year-old young woman. ( 29787853 )
2018
20
Stent implantation for May-Thurner syndrome with acute deep venous thrombosis: acute and long-term results from the ATOMIC (AcTive stenting for May-Thurner Iliac Compression syndrome) registry. ( 29948590 )
2018
21
May-Thurner syndrome and the risk of pulmonary embolism in patients with acute deep venous thrombosis. ( 29909851 )
2018
22
Arterial/venous thrombosis, fetal loss and stillbirth in pregnant women with systemic lupus erythematosus versus primary and secondary antiphospholipid syndrome: a systematic review and meta-analysis. ( 29879927 )
2018
23
The association between nonselective beta-blockers and portal venous thrombosis in cirrhotic patients: More questions on the horizon. ( 29451177 )
2018
24
Diagnosis and Treatment of Cerebral Venous Thrombosis: A Review. ( 29441008 )
2018
25
Spontaneous occult intracranial hypotension precipitating life-threatening cerebral venous thrombosis: case report. ( 29600909 )
2018
26
Lemierre's syndrome leading to cerebral venous thrombosis. ( 29898085 )
2018
27
Recurrent deep venous thrombosis in a leprosy patient on Sofosbuvir regimen for HCV: a lepra reaction? ( 29974941 )
2018
28
Risk of Venous Thrombosis in Antithrombin Deficiency: A Systematic Review and Bayesian Meta-analysis. ( 29452444 )
2018
29
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report. ( 29742732 )
2018
30
Deep venous thrombosis, pulmonary embolism and long-distance flights. ( 29948593 )
2018
31
Antiphospholipid syndrome presenting as acute mesenteric venous thrombosis involving a variant inferior mesenteric vein and successful treatment with rivaroxaban. ( 29588359 )
2018
32
Upper extremity venous thrombosis associated with primary antiphospholipid syndrome and immunoglobulin M nephropathy in diabetes mellitus type II. ( 30185366 )
2018
33
Pediatric Deep Venous Thrombosis and Pulmonary Embolism: Can It Be Antiphospholipid Syndrome? ( 30201599 )
2018
34
Antiphosphatidylserine/prothrombin antibodies (aPS/PT) as potential diagnostic markers and risk predictors of venous thrombosis and obstetric complications in antiphospholipid syndrome. ( 29166262 )
2018
35
Superior mesenteric venous thrombosis complicating acute appendicitis: A case report. ( 29924028 )
2018
36
Hemorrhagic Stroke and Cerebral Venous Thrombosis: Rare Neurological Sequelae of Chickenpox Infection. ( 30258269 )
2018
37
A case of ulcerative colitis presenting with cerebral venous thrombosis. ( 29743845 )
2018
38
Cystic Fibrosis and Lower-Extremity Edema: A Case of Intraoperative Diagnosis of Acute Deep Venous Thrombosis and Pulmonary Embolism in a Double-Lung Transplant Recipient Using Point-of-Care Ultrasound. ( 29784497 )
2018
39
Venous Thrombosis Secondary to Acute Cytomegalovirus Infection in an Immunocompetent Host: Consideration for New Screening Guidelines. ( 30087818 )
2018
40
Dulaglutide-induced cerebral venous thrombosis in a patient with type 2 diabetes mellitus. ( 30413453 )
2018
41
Progressive Venous Thrombosis in an 18-Year-Old Man with Down Syndrome. ( 30334533 )
2018
42
Sinus venous thrombosis following central neuraxial block: A difficult and often late differential diagnosis of postpartum headache. ( 29574287 )
2018
43
Does Hyperglycemia Affect Risk of Peripherally Inserted Central Catheter-Related Upper Extremity Venous Thrombosis? ( 29659465 )
2018
44
Cerebral venous thrombosis with auto-immune hyperthyroidism. ( 30355894 )
2018
45
Genome-Wide Expression Analysis Suggests Hypoxia-Triggered Hyper-Coagulation Leading to Venous Thrombosis at High Altitude. ( 29864786 )
2018
46
Intracranial hypertension related to cerebral venous thrombosis; and acute ischemic stroke with micro-infarcts associated with IgG4-related disease. ( 29584535 )
2018
47
Catheter-Related Venous Thrombosis in Hospitalized Pediatric Patients with Inflammatory Bowel Disease: Incidence, Characteristics, and Role of Anticoagulant Thromboprophylaxis with Enoxaparin. ( 29628414 )
2018
48
Cerebral Venous Thrombosis in Spontaneous Intracranial Hypotension: A Report on 4 Cases and a Review of the Literature. ( 30238694 )
2018
49
Intestinal ischemia secondary to superior mesenteric venous thrombosis-A case report. ( 30390492 )
2018
50
A case of acute mesenteric ischemia caused by mesenteric venous thrombosis. ( 30124624 )
2018

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6 (show top 50) (show all 325)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA10 NM_001100607.2(SERPINA10): c.972G> A (p.Trp324Ter) single nucleotide variant Uncertain significance rs61754487 GRCh37 Chromosome 14, 94754643: 94754643
2 SERPINA10 NM_001100607.2(SERPINA10): c.972G> A (p.Trp324Ter) single nucleotide variant Uncertain significance rs61754487 GRCh38 Chromosome 14, 94288306: 94288306
3 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh37 Chromosome 10, 115348046: 115348046
4 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh38 Chromosome 10, 113588287: 113588287
5 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
6 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh38 Chromosome 11, 46739505: 46739505
7 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh37 Chromosome 4, 155507590: 155507590
8 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh38 Chromosome 4, 154586438: 154586438
9 F13B NM_001994.2(F13B): c.344G> A (p.Arg115His) single nucleotide variant Benign rs6003 GRCh37 Chromosome 1, 197031021: 197031021
10 F13B NM_001994.2(F13B): c.344G> A (p.Arg115His) single nucleotide variant Benign rs6003 GRCh38 Chromosome 1, 197061891: 197061891
11 F13A1 NM_000129.3(F13A1): c.103G> T (p.Val35Leu) single nucleotide variant protective rs5985 GRCh37 Chromosome 6, 6318795: 6318795
12 F13A1 NM_000129.3(F13A1): c.103G> T (p.Val35Leu) single nucleotide variant protective rs5985 GRCh38 Chromosome 6, 6318562: 6318562
13 F2 NM_000506.4(F2): c.1787G> T (p.Arg596Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387907201 GRCh37 Chromosome 11, 46760876: 46760876
14 F2 NM_000506.4(F2): c.1787G> T (p.Arg596Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387907201 GRCh38 Chromosome 11, 46739326: 46739326
15 F2 NM_000506.4(F2): c.*96C> T single nucleotide variant Uncertain significance rs72550707 GRCh38 Chromosome 11, 46739504: 46739504
16 F2 NM_000506.4(F2): c.*96C> T single nucleotide variant Uncertain significance rs72550707 GRCh37 Chromosome 11, 46761054: 46761054
17 F2 NM_000506.4(F2): c.1726-59G> A single nucleotide variant Uncertain significance rs3136516 GRCh38 Chromosome 11, 46739206: 46739206
18 F2 NM_000506.4(F2): c.1726-59G> A single nucleotide variant Uncertain significance rs3136516 GRCh37 Chromosome 11, 46760756: 46760756
19 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
20 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
21 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
22 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
23 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
24 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
25 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
26 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
27 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
28 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
29 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
30 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
31 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
32 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
33 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
34 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
35 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
36 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
37 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
38 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
39 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
40 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
41 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
42 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
43 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
44 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
45 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
46 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
47 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
48 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345
49 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh37 Chromosome 1, 169515726: 169515726
50 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh38 Chromosome 1, 169546488: 169546488

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 APOH F10 F13A1 F2 F3 F5
2
Show member pathways
12.68 F10 F13A1 F2 F3 F5 F8
3
Show member pathways
12.1 CBS F2 MTHFR PLAT SERPINE1
4
Show member pathways
11.96 F2 PROC PROCR THBD
5 11.91 F10 F13A1 F2 F3 F5 F8
6
Show member pathways
11.7 F10 F2 PROC
7 11.65 F3 SERPINE1 THBD
8
Show member pathways
11.64 F10 F13A1 F2 F3 F5 F8
9 10.67 F10 F2 PROC
10 10.57 PLAT SERPINE1
11 10.34 CBS MTHFR

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 cell surface GO:0009986 9.88 APOH F3 PLAT PROCR THBD
2 endoplasmic reticulum lumen GO:0005788 9.8 F10 F2 F5 F8 PROC SERPINC1
3 extracellular region GO:0005576 9.8 APOH F10 F13A1 F2 F3 F5
4 collagen-containing extracellular matrix GO:0062023 9.7 APOH F13A1 F3 PLAT SERPINC1 SERPINE1
5 platelet alpha granule lumen GO:0031093 9.65 F13A1 F5 F8 SERPINE1 VWF
6 Golgi lumen GO:0005796 9.61 F10 F2 PROC
7 platelet alpha granule GO:0031091 9.46 F5 VWF
8 extracellular space GO:0005615 9.44 APOH F10 F2 F3 F5 F8
9 intrinsic component of external side of plasma membrane GO:0031233 9.37 F10 F3
10 extracellular exosome GO:0070062 10.01 APOH F2 PLAT PLOD1 PROCR SERPINC1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.97 F10 F2 HABP2 PLAT PROC
2 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F10 F2 F5 F8 PROC
3 cellular protein metabolic process GO:0044267 9.83 F2 F5 PROC SERPINC1
4 platelet activation GO:0030168 9.74 F2 F8 VWF
5 platelet degranulation GO:0002576 9.73 APOH F13A1 F5 F8 SERPINE1 VWF
6 blood coagulation GO:0007596 9.73 F10 F13A1 F2 F3 F5 F8
7 blood coagulation, intrinsic pathway GO:0007597 9.67 APOH F2 F8 VWF
8 fibrinolysis GO:0042730 9.65 F2 PLAT SERPINE1
9 negative regulation of blood coagulation GO:0030195 9.62 APOH PROC SERPINE1 THBD
10 positive regulation of blood coagulation GO:0030194 9.61 APOH F2 SERPINE1
11 regulation of blood coagulation GO:0030193 9.58 APOH F2 SERPINC1
12 plasminogen activation GO:0031639 9.56 APOH PLAT
13 negative regulation of platelet activation GO:0010544 9.55 F2 THBD
14 homocysteine metabolic process GO:0050667 9.54 CBS MTHFR
15 negative regulation of coagulation GO:0050819 9.51 PROC PROCR
16 blood coagulation, extrinsic pathway GO:0007598 9.49 F10 F3
17 negative regulation of fibrinolysis GO:0051918 9.46 APOH F2 SERPINE1 THBD
18 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 9.8 F10 F2 HABP2 PROC THBD
2 peptidase activity GO:0008233 9.72 F10 F2 HABP2 PLAT PROC
3 phospholipid binding GO:0005543 9.54 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 modified amino acid binding GO:0072341 9.26 CBS MTHFR
7 serine-type endopeptidase activity GO:0004252 9.1 F10 F2 F3 HABP2 PLAT PROC

Sources for Thrombophilia Due to Thrombin Defect

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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