MCID: THR092
MIFTS: 50

Thrombophilia Due to Thrombin Defect

Categories: Genetic diseases, Immune 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 54 71 13
Venous Thromboembolism 54 71 3 69
Venous Thrombosis 71 29 52 69
Thromboembolism 54 52 69
Venous Thrombosis, Susceptibility to 24 29
Venous Thrombosis, Protection Against 54
Thrombophilia Due to Factor 2 Defect 71
Susceptibility to Venous Thrombosis 24
Thph1 71

Characteristics:

OMIM:

54
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 : 54
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 thromboembolism, is related to hyperthyroidism and sagittal sinus thrombosis, 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 Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are homeostasis/metabolism and cardiovascular system

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.

CDC : 3 Learn more about travel and blood clots

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 487)
id Related Disease Score Top Affiliating Genes
1 hyperthyroidism 30.5 F2 F3
2 sagittal sinus thrombosis 30.0 F3 SERPINC1
3 prostatitis 29.7 APOH F2
4 factor v deficiency 29.4 F2 F3 F5 F8
5 hiv-1 29.2 APOH F2 F5 MTHFR SERPINC1
6 craniopharyngioma 29.2 F3 SERPINE1 THBD
7 central retinal artery occlusion 29.2 APOH F2 F3 MTHFR SERPINC1
8 essential thrombocythemia 28.9 F2 F3 F8 SERPINC1 VWF
9 ischemic heart disease 28.5 APOH F2 SERPINC1 SERPINE1 VWF
10 myeloproliferative neoplasm 28.3 F10 F2 F3 F8 SERPINC1 VWF
11 priapism 27.8 CBS F5 MTHFR SERPINC1 SERPINE1 THBD
12 meckel's diverticulum 27.2 APOH F10 F2 F3 F5 MTHFR
13 stroke, ischemic 25.6 APOH F2 F3 F5 MTHFR PLAT
14 myocardial infarction 23.8 CBS F10 F13A1 F2 F3 F5
15 chronic thromboembolic pulmonary hypertension 12.2
16 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 11.9
17 thrombophilia, x-linked, due to factor ix defect 11.4
18 protein c deficiency 11.0
19 peripartum cardiomyopathy 11.0
20 multicentric osteolysis nephropathy 10.9 F5 MTHFR
21 variably protease-sensitive prionopathy 10.8 F2 F5
22 porphyria 10.8 F2 MTHFR
23 mcgillivray syndrome 10.8 APOH F5
24 atrial fibrillation, familial, 3 10.8
25 coumarin resistance 10.8
26 dysfibrinogenemia, congenital 10.8
27 atrial fibrillation, familial, 4 10.8
28 atrial fibrillation, familial, 14 10.8
29 homocystinuria, b6-responsive and nonresponsive types 10.8
30 thrombophilia due to protein c deficiency, autosomal recessive 10.8
31 atrial fibrillation, familial, 7 10.8
32 atrial fibrillation, familial, 12 10.8
33 atrial fibrillation, familial, 6 10.8
34 atrial fibrillation, familial, 10 10.8
35 atrial fibrillation, familial, 9 10.8
36 atrial fibrillation, familial, 11 10.8
37 atrial fibrillation, familial, 13 10.8
38 accessory deep peroneal nerve 10.7 APOH F5
39 landau-kleffner syndrome 10.7 APOH F2
40 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.7 F2 SERPINC1
41 bile duct cystadenoma 10.7 F2 F5
42 pulmonary hypertension 10.7
43 primary pigmented nodular adrenocortical disease 10.7 F2 F5 MTHFR
44 hepatocellular adenoma 10.7 F2 F5 MTHFR
45 bernard-soulier syndrome, type a2 10.6 F2 MTHFR SERPINC1
46 bronchopulmonary dysplasia 10.6 APOH F8
47 atrial fibrillation, familial, 5 10.6
48 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.6
49 afibrinogenemia, congenital 10.6
50 pulmonary hypertension, primary, 4 10.6

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:

54

Respiratory- Lung:
pulmonary embolism

Neurologic- Central Nervous System:
cerebral thrombosis

Cardiovascular- Vascular:
thrombosis, recurrent
deep vein thrombosis


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 F10 F13A1 F2 F3 F5 F8
2 cardiovascular system MP:0005385 10.25 F10 F13A1 F2 F3 F5 PLAT
3 mortality/aging MP:0010768 10.19 SERPINC1 SERPINE1 THBD VWF APOH F10
4 hematopoietic system MP:0005397 10.14 F13A1 F2 F3 F8 PLAT PROC
5 immune system MP:0005387 10.06 PLAT PROC PROCR SERPINC1 SERPINE1 THBD
6 nervous system MP:0003631 9.85 F2 F3 F5 MTHFR PLAT PROC
7 reproductive system MP:0005389 9.56 MTHFR PLAT SERPINC1 THBD F10 F13A1
8 respiratory system MP:0005388 9.17 F13A1 F2 F3 PLAT PROC SERPINE1

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved 9005-49-6
2
Heparin Approved, Investigational 9005-49-6 772 46507594
3 Anticoagulants
4 calcium heparin
5 Fibrinolytic Agents
6 Heparin, Low-Molecular-Weight

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study on Antithrombotic Prevention in Thrombophilia and Pregnancy Loss Recruiting NCT02385461 Low Molecular Weight Heparins (LMWHs)

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

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6
id 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:

id 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
11.92 F2 PROC PROCR THBD
4 11.91 F10 F13A1 F2 F3 F5 F8
5
Show member pathways
11.69 F10 F2 PROC
6
Show member pathways
11.64 F10 F13A1 F2 F3 F5 F8
7 11.63 F3 SERPINE1 THBD
8 10.67 F10 F2 PROC
9 10.55 PLAT SERPINE1
10
Show member pathways
10.36 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:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.83 APOH F3 PLAT PROCR THBD
2 extracellular space GO:0005615 9.73 APOH F2 F3 F5 F8 HABP2
3 extracellular matrix GO:0031012 9.72 APOH F3 PLAT SERPINE1 VWF
4 endoplasmic reticulum lumen GO:0005788 9.7 F10 F2 F5 F8 PROC SERPINA10
5 platelet alpha granule lumen GO:0031093 9.65 F13A1 F5 F8 SERPINE1 VWF
6 Golgi lumen GO:0005796 9.63 F10 F2 PROC
7 extracellular region GO:0005576 9.5 APOH F10 F13A1 F2 F3 F5
8 platelet alpha granule GO:0031091 9.4 F5 VWF
9 intrinsic component of external side of plasma membrane GO:0031233 9.37 F10 F3
10 extracellular exosome GO:0070062 10.13 APOH F2 F3 PLAT PROCR SERPINA10

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.89 F2 F5 PROC SERPINA10 SERPINC1
2 leukocyte migration GO:0050900 9.87 F2 PROC PROCR THBD
3 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F10 F2 F5 F8 PROC
4 platelet degranulation GO:0002576 9.85 APOH F13A1 F5 F8 SERPINE1 VWF
5 negative regulation of peptidase activity GO:0010466 9.77 SERPINA10 SERPINC1 SERPINE1
6 platelet activation GO:0030168 9.77 F2 F8 VWF
7 blood coagulation GO:0007596 9.77 F10 F13A1 F2 F3 F5 F8
8 regulation of blood coagulation GO:0030193 9.7 APOH F2 SERPINC1
9 fibrinolysis GO:0042730 9.69 F2 PLAT SERPINE1
10 signal peptide processing GO:0006465 9.65 F10 F2 PROC
11 negative regulation of blood coagulation GO:0030195 9.62 APOH PROC SERPINE1 THBD
12 positive regulation of blood coagulation GO:0030194 9.61 APOH F2 SERPINE1
13 plasminogen activation GO:0031639 9.58 APOH PLAT
14 negative regulation of platelet activation GO:0010544 9.58 F2 THBD
15 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F10 F2 PROC
16 negative regulation of coagulation GO:0050819 9.56 PROC PROCR
17 negative regulation of fibrinolysis GO:0051918 9.56 APOH F2 SERPINE1 THBD
18 homocysteine metabolic process GO:0050667 9.55 CBS MTHFR
19 blood coagulation, intrinsic pathway GO:0007597 9.55 APOH F10 F2 F8 VWF
20 blood coagulation, extrinsic pathway GO:0007598 9.54 F10 F3
21 hemostasis GO:0007599 9.4 F10 F13A1 F2 F3 F5 F8

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

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.8 F10 F2 HABP2 PLAT PROC
2 peptidase inhibitor activity GO:0030414 9.63 SERPINA10 SERPINC1 SERPINE1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.61 SERPINA10 SERPINC1 SERPINE1
4 heparin binding GO:0008201 9.56 APOH F2 SERPINA10 SERPINC1
5 phospholipid binding GO:0005543 9.54 APOH F10 F3
6 protease binding GO:0002020 9.46 F3 SERPINC1 SERPINE1 VWF
7 serine-type peptidase activity GO:0008236 9.35 F10 F2 HABP2 PLAT PROC
8 modified amino acid binding GO:0072341 9.32 CBS MTHFR
9 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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