MCID: PRT012
MIFTS: 45

Prothrombin Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Prothrombin Deficiency

MalaCards integrated aliases for Prothrombin Deficiency:

Name: Prothrombin Deficiency 11 19 42 14
Factor Ii Deficiency 11 42 75 5 71
Hypoprothrombinemia 11 42
Hereditary Factor Ii Deficiency Disease 71
Inherited Factor Ii Deficiency 71
Deficiency, Prothrombin 38
Dysprothrombinemia 42

Classifications:



External Ids:

Disease Ontology 11 DOID:2235
UMLS 71 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency

MedlinePlus Genetics: 42 Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

MalaCards based summary: Prothrombin Deficiency, also known as factor ii deficiency, is related to prothrombin deficiency, congenital and dysfibrinogenemia, congenital. An important gene associated with Prothrombin Deficiency is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. The drugs Warfarin and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone marrow, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology: 11 A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.

Wikipedia: 75 Thrombin (EC 3.4.21.5, fibrinogenase, thrombase, thrombofort, topical, thrombin-C, tropostasin,... more...

Related Diseases for Prothrombin Deficiency

Diseases related to Prothrombin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 296)
# Related Disease Score Top Affiliating Genes
1 prothrombin deficiency, congenital 31.9 SERPINC1 F2 F10 APOH
2 dysfibrinogenemia, congenital 30.2 SERPINC1 F2
3 thrombasthenia 30.2 F3 F2
4 infective endocarditis 30.0 F3 F2
5 thrombocytopenic purpura, autoimmune 29.9 F8 F3 F2
6 protein-losing enteropathy 29.9 SERPINC1 F2
7 endocarditis 29.7 SERPINC1 F2 APOH
8 respiratory failure 29.6 SERPINC1 F3 F2
9 liver cirrhosis 29.5 SERPINC1 F3 F2
10 antiphospholipid syndrome 29.5 SERPINC1 F3 F2 F10 APOH
11 purpura 29.5 SERPINC1 F3 F2 APOH
12 papilledema 29.4 SERPINC1 F3 F2 APOH
13 bilirubin metabolic disorder 29.3 SERPINC1 F9 F3 F2
14 vitamin k deficiency bleeding 29.1 SERPINC1 GGCX F9 F8 F7 F3
15 deficiency anemia 29.1 SERPINC1 F9 F7 F3 F2
16 hemophilia 29.0 F9 F8 F2 F10
17 factor vii deficiency 28.8 SERPINC1 F9 F8 F7 F3 F2
18 hemophilia a 28.6 F9 F8 F7 F3 F2 F10
19 factor xii deficiency 28.4 SERPINC1 F9 F7 F3 F2 F11
20 hemorrhagic disease 28.3 SERPINC1 F9 F8 F7 F3 F2
21 blood platelet disease 28.3 SERPINC1 F8 F7 F3 F2 F10
22 thrombophilia due to thrombin defect 28.3 SERPINC1 F9 F8 F3 F2 F10
23 disseminated intravascular coagulation 28.2 SERPINC1 F9 F7 F3 F2 F11
24 pulmonary embolism 28.1 SERPINC1 F9 F8 F3 F2 F10
25 factor v deficiency 28.1 SERPINC1 MCFD2 F9 F8 F7 F3
26 afibrinogenemia, congenital 28.0 SERPINC1 MCFD2 F8 F7 F3 F2
27 thrombocytopenia 27.9 SERPINC1 MCFD2 F9 F8 F3 F2
28 factor viii deficiency 27.8 SERPINC1 MCFD2 F9 F8 F7 F3
29 hemophilia b 27.6 SERPINC1 GGCX F9 F8 F7 F3
30 hemarthrosis 27.6 SERPINC1 MCFD2 F9 F8 F7 F3
31 thrombosis 27.5 SERPINC1 F9 F8 F7 F3 F2
32 acquired prothrombin deficiency 11.1
33 systemic lupus erythematosus 10.6
34 lupus erythematosus 10.6
35 systemic lupus erythematosus 1 10.3
36 emphysematous cholecystitis 10.3 F3 F2
37 femoral neuropathy 10.3 F3 F2
38 blue toe syndrome 10.3 F3 F2
39 renal pelvis squamous cell carcinoma 10.3 F3 F2
40 subclavian steal syndrome 10.3 F3 F2
41 acalculous cholecystitis 10.3 F3 F2
42 epidural abscess 10.3 F3 F2
43 leech infestation 10.3 F3 F2
44 hemopneumothorax 10.3 F3 F2
45 splenic abscess 10.3 F3 F2
46 ureteric orifice cancer 10.3 F3 F2
47 hemopericardium 10.3 F3 F2
48 acute cor pulmonale 10.3 F3 F2
49 acute pulmonary heart disease 10.3 F3 F2
50 kidney cortex necrosis 10.3 F3 F2

Graphical network of the top 20 diseases related to Prothrombin Deficiency:



Diseases related to Prothrombin Deficiency

Symptoms & Phenotypes for Prothrombin Deficiency

MGI Mouse Phenotypes related to Prothrombin Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 APOH F10 F11 F2 F3 F7
2 cardiovascular system MP:0005385 9.56 F10 F11 F2 F3 F7 F9
3 mortality/aging MP:0010768 9.32 APOH F10 F11 F2 F3 F7

Drugs & Therapeutics for Prothrombin Deficiency

Drugs for Prothrombin Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1, Phase 2 81-81-2, 129-06-6 54678486
2 Anticoagulants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single-site, Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Patients With Unstable Warfarin Effect. Terminated NCT02267408 Phase 1, Phase 2

Search NIH Clinical Center for Prothrombin Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


menadiol
Menadiol sodium phosphate
nonacog alfa
Vitamin K 1
Vitamin K 3

Genetic Tests for Prothrombin Deficiency

Anatomical Context for Prothrombin Deficiency

Organs/tissues related to Prothrombin Deficiency:

MalaCards : Brain, Liver, Bone Marrow, Whole Blood, Kidney, Heart, Ovary

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(show top 50) (show all 699)
# Title Authors PMID Year
1
Congenital prothrombin deficiency. 62 5
19598065 2009
2
Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. 62 5
7740448 1994
3
Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia. 62 5
1349838 1992
4
Congenital idiopathic hypoprothrombinemia. 62 5
13228032 1954
5
Thrombophilia: 2009 update. 5
19289024 2009
6
Prothrombin Thrombophilia 5
20301327 2006
7
Geographic distribution of the 20210 G to A prothrombin variant. 5
9569177 1998
8
Lupus Anticoagulant-Hypoprothrombinemia Syndrome and Pseudotumor Cerebri as an Initial Presentation of Systemic Lupus Erythematosus in a 16-Year-Old Male Patient: A Case Report and Literature Review. 62
36207805 2022
9
Antiphospholipid syndrome & lupus anticoagulant-hypoprothrombinemia. 62
36259944 2022
10
Autoimmune hemolytic anemia as an initial presentation in children with systemic lupus erythematosus: two case reports. 62
35971316 2022
11
Severe hypoprothrombinemia caused by cefmetazole sodium in a patient undergoing hemodialysis: A case report. 62
35293121 2022
12
Hypoprothrombinemia During Cefmetazole Treatment: A Case Report. 62
35891595 2022
13
[Recurrent epistaxis with coagulation disorders in a boy aged 2 years]. 62
35894199 2022
14
Antithrombin Resistance Rescues Clotting Defect of Homozygous Prothrombin-Y510N Dysprothrombinemia. 62
34256393 2022
15
Primary antiphospholipid syndrome in pediatrics: beyond thrombosis. Report of 32 cases and review of the evidence. 62
35164787 2022
16
Cefazolin and rifampin: A coagulopathy-inducing combination. 62
34000006 2021
17
A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene. 62
33977210 2021
18
A Chinese Boy With Lupus Anticoagulant-hypoprothrombinemia Syndrome: A Case Report and Review of the Literature. 62
32287097 2021
19
Pediatric systemic lupus erythematosus with lupus anticoagulant hypoprothrombinemia syndrome-A case series with review of literature. 62
33509039 2021
20
Lupus anticoagulant hypoprothrombinemia syndrome associated with bilateral adrenal haemorrhage in a child: early diagnosis and intervention. 62
33731125 2021
21
[Successful preoperative replacement of prothrombin with prothrombin complex concentrate for Prothrombin Himi]. 62
34615802 2021
22
Protocatechuic acid protects against menadione-induced liver damage by up-regulating nuclear erythroid-related factor 2. 62
30585516 2020
23
Evaluation of etiology and pregnancy outcome in recurrent miscarriage patients. 62
32994741 2020
24
An Extremely Rare Cause of Prolonged Menstruation: Lupus Anticoagulant-Hypoprothrombinemia Syndrome. 62
31478416 2020
25
Significantly Prolonged Prothrombin Time and Activated Partial Thromboplastin Time with no Bleeding Tendency: A Patient with Lupus Anticoagulant-Hypoprothrombinemia Syndrome Positive for Immunoglobulin M Anti-Phosphatidylserine/Prothrombin complex Antibodies. 62
31877567 2020
26
A case report of severe bleeding due to lupus anticoagulant hypoprothrombinemia syndrome. 62
31515751 2020
27
[Lupus anticoagulant-hypoprothrombinemia syndrome associated with follicular lymphoma]. 62
32759560 2020
28
Prothrombin Is Responsible for the Lupus Cofactor Phenomenon in a Patient with Lupus Anticoagulant/Hypoprothrombinemia Syndrome. 62
32159072 2020
29
[Acquired coagulation disorders]. 62
32759565 2020
30
Lupus anticoagulant-hypoprothrombinemia syndrome and immunoglobulin-A vasculitis: a report of Japanese sibling cases and review of the literature. 62
31392497 2019
31
The Association Between Cephalosporin and Hypoprothrombinemia: A Systematic Review and Meta-Analysis. 62
31623191 2019
32
Lupus anticoagulant-hypoprothrombinemia syndrome and similar diseases: experiences at a single center in Japan. 62
31165409 2019
33
Bismuth Subsalicylate Coagulopathy in a Patient with Chronic Liver Disease. 62
31062178 2019
34
Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 62
31147530 2019
35
Lupus Anticoagulant-Hypoprothrombinemia Syndrome: Correspondence. 62
30825064 2019
36
Vitamin K-Dependent Coagulation Factors That May be Responsible for Both Bleeding and Thrombosis (FII, FVII, and FIX). 62
30428703 2018
37
Fatal pulmonary embolism and pulmonary hemorrhage in lupus anticoagulant hypoprothrombinemia syndrome: a case report and review of literature. 62
30300149 2018
38
Does rotational thromboelastometry accurately predict coagulation status in patients with lupus anticoagulant? 62
29756268 2018
39
Lupus anticoagulant hypoprothrombinemia syndrome associated with systemic lupus erythematosus in children: report of two cases and systematic review of the literature. 62
30099593 2018
40
[Thrombo-haemorrhagic disease-related hypoprothrombinemia-lupus anticoagulant syndrome revealing a light chains multiple myeloma]. 62
30217348 2018
41
[Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency]. 62
30098253 2018
42
"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate. 62
29578313 2018
43
Rituximab use in pediatric lupus anticoagulant hypoprothrombinemia syndrome - report of three cases and review of the literature. 62
29320972 2018
44
Cefazolin Induced Liver Injury and Hypoprothrombinemia. 62
29892188 2018
45
Lupus Anticoagulant-Hypoprothrombinemia Syndrome. 62
29139061 2018
46
Hypoprothrombinemia and severe perioperative haemorrhagic complications in cardiac surgery patients treated with high-dose cefazolin for infective endocarditis. 62
28870850 2018
47
[Phenotypic and mutational analysis of a pedigree affected with hereditary coagulation factor Ⅴ deficiency]. 62
29652992 2018
48
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed. 62
28762299 2018
49
Inherited factor II deficiency with paradoxical hypercoagulability: a case report. 62
29389674 2018
50
Anaphylaxis Following Human Prothrombin Complex Concentrate in a Child with Lupus Anticoagulant Hypoprothrombinemia Syndrome: A Cautionary Tale. 62
31249925 2018

Variations for Prothrombin Deficiency

ClinVar genetic disease variations for Prothrombin Deficiency:

5 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F2 NM_000506.5(F2):c.462_463insT (p.Asn155Ter) INSERT Pathogenic
13309 rs387906522 GRCh37: 11:46744971-46744972
GRCh38: 11:46723421-46723422
2 F2 NM_000506.5(F2):c.260A>G (p.Tyr87Cys) SNV Pathogenic
627289 rs1227147475 GRCh37: 11:46742092-46742092
GRCh38: 11:46720542-46720542
3 F2 NM_000506.5(F2):c.1270G>A (p.Val424Met) SNV Likely Pathogenic
1098522 GRCh37: 11:46749685-46749685
GRCh38: 11:46728135-46728135
4 F2 NM_000506.5(F2):c.1496G>A (p.Gly499Glu) SNV Likely Pathogenic
1098523 GRCh37: 11:46750953-46750953
GRCh38: 11:46729403-46729403
5 F2 NM_000506.5(F2):c.995G>C (p.Gly332Ala) SNV Likely Pathogenic
1098519 GRCh37: 11:46748168-46748168
GRCh38: 11:46726618-46726618
6 F2 NM_000506.5(F2):c.1070A>G (p.Glu357Gly) SNV Likely Pathogenic
1098520 GRCh37: 11:46748327-46748327
GRCh38: 11:46726777-46726777
7 F2 NM_000506.5(F2):c.1094T>A (p.Val365Glu) SNV Likely Pathogenic
1684489 GRCh37: 11:46748351-46748351
GRCh38: 11:46726801-46726801
8 F2 NM_000506.5(F2):c.317-4G>A SNV Conflicting Interpretations Of Pathogenicity
304807 rs375713715 GRCh37: 11:46744726-46744726
GRCh38: 11:46723176-46723176
9 F2 NM_000506.5(F2):c.1464G>A (p.Thr488=) SNV Conflicting Interpretations Of Pathogenicity
304816 rs146742525 GRCh37: 11:46750379-46750379
GRCh38: 11:46728829-46728829
10 F2 NM_000506.5(F2):c.*97G>A SNV Conflicting Interpretations Of Pathogenicity
13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
11 F2 NM_000506.5(F2):c.1541A>G (p.Asn514Ser) SNV Uncertain Significance
304818 rs144011338 GRCh37: 11:46750998-46750998
GRCh38: 11:46729448-46729448
12 F2 NM_000506.5(F2):c.1037C>T (p.Ser346Leu) SNV Uncertain Significance
878783 rs552341778 GRCh37: 11:46748294-46748294
GRCh38: 11:46726744-46726744
13 F2 NM_000506.4(F2):c.*100C>A SNV Uncertain Significance
878831 rs112016113 GRCh37: 11:46761058-46761058
GRCh38: 11:46739508-46739508
14 F2 NM_000506.5(F2):c.495G>A (p.Thr165=) SNV Uncertain Significance
756801 rs144857547 GRCh37: 11:46745004-46745004
GRCh38: 11:46723454-46723454
15 F2 NM_000506.3(F2):c.598G>A (p.Glu200Lys) SNV Uncertain Significance
13302 rs62623459 GRCh37: 11:46747447-46747447
GRCh38: 11:46725897-46725897
16 F2 NM_000506.5(F2):c.1621C>A (p.Arg541=) SNV Uncertain Significance
304820 rs886048338 GRCh37: 11:46751078-46751078
GRCh38: 11:46729528-46729528
17 F2 NM_000506.5(F2):c.1131-5C>T SNV Uncertain Significance
1098521 GRCh37: 11:46749541-46749541
GRCh38: 11:46727991-46727991
18 F2 NM_000506.5(F2):c.371G>A (p.Arg124Gln) SNV Uncertain Significance
1033061 rs139148365 GRCh37: 11:46744784-46744784
GRCh38: 11:46723234-46723234
19 F2 NM_000506.5(F2):c.607A>G (p.Ser203Gly) SNV Uncertain Significance
1098517 GRCh37: 11:46747456-46747456
GRCh38: 11:46725906-46725906
20 F2 NM_000506.5(F2):c.954T>G (p.Ser318Arg) SNV Uncertain Significance
1098518 GRCh37: 11:46748127-46748127
GRCh38: 11:46726577-46726577
21 F2 NM_000506.5(F2):c.1598G>A (p.Arg533Gln) SNV Uncertain Significance
1098524 GRCh37: 11:46751055-46751055
GRCh38: 11:46729505-46729505
22 F2 NM_000506.5(F2):c.1567C>T (p.Leu523=) SNV Uncertain Significance
304819 rs886048337 GRCh37: 11:46751024-46751024
GRCh38: 11:46729474-46729474
23 F2 NM_000506.5(F2):c.978G>A (p.Pro326=) SNV Uncertain Significance
304814 rs142949009 GRCh37: 11:46748151-46748151
GRCh38: 11:46726601-46726601
24 F2 NM_000506.5(F2):c.915G>A (p.Glu305=) SNV Uncertain Significance
304813 rs886048335 GRCh37: 11:46748088-46748088
GRCh38: 11:46726538-46726538
25 F2 NM_000506.5(F2):c.1472+9C>T SNV Uncertain Significance
304817 rs886048336 GRCh37: 11:46750396-46750396
GRCh38: 11:46728846-46728846
26 F2 NM_000506.5(F2):c.*44G>T SNV Uncertain Significance
304823 rs759287343 GRCh37: 11:46761002-46761002
GRCh38: 11:46739452-46739452
27 F2 NM_000506.5(F2):c.730G>T (p.Ala244Ser) SNV Uncertain Significance
304809 rs886048334 GRCh37: 11:46747579-46747579
GRCh38: 11:46726029-46726029
28 F2 NM_000506.5(F2):c.45G>A (p.Leu15=) SNV Uncertain Significance
304805 rs886048333 GRCh37: 11:46740830-46740830
GRCh38: 11:46719280-46719280
29 F2 NM_000506.5(F2):c.882C>T (p.Ala294=) SNV Uncertain Significance
304812 rs370819135 GRCh37: 11:46748055-46748055
GRCh38: 11:46726505-46726505
30 F2 NM_000506.5(F2):c.992C>T (p.Ser331Leu) SNV Uncertain Significance
304815 rs200812621 GRCh37: 11:46748165-46748165
GRCh38: 11:46726615-46726615
31 F2 NM_000506.5(F2):c.1815T>C (p.His605=) SNV Uncertain Significance
304822 rs368442575 GRCh37: 11:46760904-46760904
GRCh38: 11:46739354-46739354
32 F2 NM_000506.5(F2):c.559+5G>A SNV Uncertain Significance
304808 rs376151472 GRCh37: 11:46745073-46745073
GRCh38: 11:46723523-46723523
33 F2 NM_000506.5(F2):c.814G>A (p.Val272Met) SNV Uncertain Significance
877749 rs199558597 GRCh37: 11:46747663-46747663
GRCh38: 11:46726113-46726113
34 F2 NM_000506.5(F2):c.874+13G>A SNV Uncertain Significance
877750 rs764029414 GRCh37: 11:46747736-46747736
GRCh38: 11:46726186-46726186
35 F2 NM_000506.5(F2):c.*9T>G SNV Uncertain Significance
877790 rs201577861 GRCh37: 11:46760967-46760967
GRCh38: 11:46739417-46739417
36 F2 NM_000506.5(F2):c.191C>T (p.Thr64Met) SNV Uncertain Significance
878742 rs142001812 GRCh37: 11:46741363-46741363
GRCh38: 11:46719813-46719813
37 F2 NM_000506.5(F2):c.234G>A (p.Thr78=) SNV Uncertain Significance
878743 rs151121282 GRCh37: 11:46741406-46741406
GRCh38: 11:46719856-46719856
38 F2 NM_000506.5(F2):c.285G>A (p.Thr95=) SNV Uncertain Significance
878744 rs147892497 GRCh37: 11:46742359-46742359
GRCh38: 11:46720809-46720809
39 F2 NM_000506.5(F2):c.1298+11G>C SNV Likely Benign
879371 rs144587241 GRCh37: 11:46749724-46749724
GRCh38: 11:46728174-46728174
40 F2 NM_000506.5(F2):c.180C>T (p.Cys60=) SNV Likely Benign
749493 rs374353447 GRCh37: 11:46741352-46741352
GRCh38: 11:46719802-46719802
41 F2 NM_000506.5(F2):c.1824C>T (p.Arg608=) SNV Likely Benign
256314 rs3136532 GRCh37: 11:46760913-46760913
GRCh38: 11:46739363-46739363
42 F2 NM_000506.5(F2):c.843C>T (p.Gly281=) SNV Benign/Likely Benign
708725 rs147699032 GRCh37: 11:46747692-46747692
GRCh38: 11:46726142-46726142
43 F2 NM_000506.5(F2):c.79+7G>A SNV Benign
304806 rs3136431 GRCh37: 11:46740871-46740871
GRCh38: 11:46719321-46719321
44 F2 NM_000506.5(F2):c.1857G>A (p.Gln619=) SNV Benign
779195 rs113406770 GRCh37: 11:46760946-46760946
GRCh38: 11:46739396-46739396
45 F2 NM_000506.5(F2):c.813C>T (p.Gly271=) SNV Benign
304811 rs5899 GRCh37: 11:46747662-46747662
GRCh38: 11:46726112-46726112
46 F2 NM_000506.5(F2):c.1628G>T (p.Arg543Leu) SNV Benign
304821 rs143064939 GRCh37: 11:46751085-46751085
GRCh38: 11:46729535-46729535
47 F2 NM_000506.5(F2):c.423-7G>C SNV Benign
256315 rs2070852 GRCh37: 11:46744925-46744925
GRCh38: 11:46723375-46723375
48 F2 NM_000506.5(F2):c.1233G>A (p.Pro411=) SNV Benign
256312 rs5898 GRCh37: 11:46749648-46749648
GRCh38: 11:46728098-46728098
49 F2 NM_000506.5(F2):c.480C>T (p.Pro160=) SNV Benign
256316 rs3136452 GRCh37: 11:46744989-46744989
GRCh38: 11:46723439-46723439
50 F2 NM_000506.5(F2):c.494C>T (p.Thr165Met) SNV Benign
256317 rs5896 GRCh37: 11:46745003-46745003
GRCh38: 11:46723453-46723453

Expression for Prothrombin Deficiency

Search GEO for disease gene expression data for Prothrombin Deficiency.

Pathways for Prothrombin Deficiency

Pathways related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 SERPINC1 MCFD2 GGCX F9 F8 F7
2
Show member pathways
13.04 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
12.56 F10 F11 F2 F3 F7 F8
4
Show member pathways
11.74 SERPINC1 GGCX F9 F8 F7 F3
5
Show member pathways
11.67 GGCX F9 F8 F7 F2 F10
6 11.02 F3 F2
7
Show member pathways
10.87 GGCX F9 F7 F2 F10
8
Show member pathways
10.62 F9 F8 F10
9 10.51 F7 F10

GO Terms for Prothrombin Deficiency

Cellular components related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.36 SERPINC1 F9 F8 F7 F3 F2
2 extracellular space GO:0005615 10.28 APOH F10 F11 F2 F3 F7
3 collagen-containing extracellular matrix GO:0062023 10.03 APOH F2 F3 F7 F9 SERPINC1
4 endoplasmic reticulum lumen GO:0005788 9.93 SERPINC1 F9 F8 F7 F2 F10
5 serine-type peptidase complex GO:1905286 9.71 F7 F3
6 Golgi lumen GO:0005796 9.65 F9 F8 F7 F2 F10
7 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
8 serine-type endopeptidase complex GO:1905370 9.23 F9 F7 F2 F10

Biological processes related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.03 F9 F7 F2 F11 F10
2 positive regulation of protein kinase B signaling GO:0051897 9.99 F7 F3 F10
3 negative regulation of fibrinolysis GO:0051918 9.8 F2 APOH
4 positive regulation of blood coagulation GO:0030194 9.8 APOH F2 F7
5 positive regulation of positive chemotaxis GO:0050927 9.78 F7 F3
6 plasminogen activation GO:0031639 9.76 F11 APOH
7 blood coagulation, intrinsic pathway GO:0007597 9.71 F8 APOH
8 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.67 F7 F3
9 regulation of blood coagulation GO:0030193 9.65 SERPINC1 F2 F11 APOH
10 blood coagulation GO:0007596 9.58 SERPINC1 GGCX F9 F8 F7 F3
11 hemostasis GO:0007599 9.56 SERPINC1 F9 F8 F7 F3 F2
12 regulation of body fluid levels GO:0050878 9.55 F9 F8 F7 F2 F10

Molecular functions related to Prothrombin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 10.1 MCFD2 F9 F7 F2 F10
2 heparin binding GO:0008201 9.86 APOH F11 F2 SERPINC1
3 phospholipid binding GO:0005543 9.85 F3 F10 APOH
4 endopeptidase activity GO:0004175 9.62 F9 F7 F10
5 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
6 serine-type peptidase activity GO:0008236 9.43 F9 F7 F2 F11 F10
7 serine-type endopeptidase activity GO:0004252 9.4 F9 F7 F3 F2 F11 F10

Sources for Prothrombin Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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