MCID: PRT012
MIFTS: 37

Prothrombin Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Prothrombin Deficiency

MalaCards integrated aliases for Prothrombin Deficiency:

Name: Prothrombin Deficiency 12 53 25 15
Factor Ii Deficiency 12 75 53 25 72
Hypoprothrombinemia 12 25
Dysprothrombinemia 53 25
Hereditary Factor Ii Deficiency Disease 72
Inherited Prothrombin Deficiency 53
Congenital Factor Ii Deficiency 53
Hypoprothrombinemia, Inherited 53
Inherited Factor Ii Deficiency 72
Inherited Hypoprothrombinemia 53
Deficiency, Prothrombin 40
Hypoprothrombinemias 44

Classifications:



External Ids:

Disease Ontology 12 DOID:2235
MeSH 44 D007020
NCIt 50 C131737
UMLS 72 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency

NIH Rare Diseases : 53 Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding. The severity of the disease can vary, with some people experiencing severe bleeding without any known cause, and others only experiencing increased bleeding after a surgery or serious injury. Prothrombin deficiency is caused by changes (mutations) in the F2 gene. There are two types of inherited prothrombin deficiency. Type I or hypoprothrombinemia and type II or dysprothrombinemia. Inheritance of both types is autosomal recessive. Diagnosis is based on laboratory test results that are consistent with the deficiency. Treatment includes IV therapy using plasma, which is the part of the blood that contains the blood clotting factors. The blood product that is used is called fresh frozen plasma. A form of the disease that is not inherited (acquired) can be caused by vitamin K deficiency, liver disease, or an autoimmune response. The underlying cause of acquired factor II deficiency should be treated in order to relieve symptoms of the disease.

MalaCards based summary : Prothrombin Deficiency, also known as factor ii deficiency, is related to antiphospholipid syndrome and splenic disease. An important gene associated with Prothrombin Deficiency is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). The drugs Thrombin and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes.

Disease Ontology : 12 An autosomal recessive disease 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.

Genetics Home Reference : 25 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.

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 158)
# Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 30.5 F3 F2
2 splenic disease 30.2 F3 F2
3 thrombophilia due to thrombin defect 30.2 F3 F2
4 afibrinogenemia 30.0 F3 F2
5 afibrinogenemia, congenital 30.0 F3 F2
6 purpura 30.0 F3 F2
7 thrombasthenia 29.9 F3 F2
8 factor vii deficiency 29.9 F7 F3 F2
9 hemophilia a 29.9 F7 F3
10 thrombophilia 29.9 F3 F2
11 pulmonary embolism 29.9 F3 F2
12 thrombosis 29.6 F7 F3 F2
13 hemorrhagic disease 29.5 F7 F3 F2
14 hemophilia b 29.4 F7 F3 F2
15 factor v deficiency 29.4 F7 F3 F2
16 hemophilia 29.2 F7 F3 F2
17 factor x deficiency 29.2 F7 F3 F2
18 heart disease 28.9 F7 F3 F2
19 prothrombin deficiency, congenital 12.8
20 acquired prothrombin deficiency 12.4
21 scott syndrome 11.5
22 systemic lupus erythematosus 10.4
23 vitamin k deficiency bleeding 10.4
24 thrombocytopenia 10.3
25 cerebral falx meningioma 10.3 F3 F2
26 fournier gangrene 10.3 F3 F2
27 intestinal impaction 10.2 F3 F2
28 leech infestation 10.2 F3 F2
29 cerebral sinovenous thrombosis 10.2 F3 F2
30 giant hemangioma 10.2 F3 F2
31 qualitative platelet defect 10.2 F3 F2
32 sagittal sinus thrombosis 10.2 F3 F2
33 femoral neuropathy 10.2 F3 F2
34 blue toe syndrome 10.2 F3 F2
35 hantavirus pulmonary syndrome 10.2 F3 F2
36 alcohol-related birth defect 10.2 F3 F2
37 von willebrand disease, type 1 10.2 F3 F2
38 marantic endocarditis 10.2 F3 F2
39 korean hemorrhagic fever 10.2 F3 F2
40 purpura fulminans 10.2 F3 F2
41 hepatic infarction 10.2 F3 F2
42 peripheral vertigo 10.2 F3 F2
43 blood protein disease 10.2 F3 F2
44 endocardium disease 10.2 F3 F2
45 dysfibrinogenemia 10.2
46 branch retinal artery occlusion 10.2 F3 F2
47 pulmonary artery disease 10.2 F3 F2
48 hepatic vascular disease 10.2 F3 F2
49 analbuminemia 10.2 F3 F2
50 squamous cell papilloma 10.2 F3 F2

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



Diseases related to Prothrombin Deficiency

Symptoms & Phenotypes for Prothrombin Deficiency

Drugs & Therapeutics for Prothrombin Deficiency

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 2
2
Warfarin Approved Phase 1, Phase 2 81-81-2 6691 54678486
3 Liver Extracts Phase 2
4 Hemostatics Phase 2
5 Coagulants Phase 2
6 Anticoagulants Phase 1, Phase 2
7 Anti-Infective Agents
8 Antibiotics, Antitubercular
9 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2 Vitaliver;Placebo
2 REPlaCE- Randomized Trial Evaluating the Use of Prothrombin Complex concEntrate to Improve Survival in Patients With Traumatic Coagulopathy Not yet recruiting NCT03981484 Phase 2
3 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
4 Antibiotic-associated Coagulopathy Unknown status NCT02172833
5 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Not yet recruiting NCT03273998

Search NIH Clinical Center for Prothrombin Deficiency

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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

Cochrane evidence based reviews: hypoprothrombinemias

Genetic Tests for Prothrombin Deficiency

Anatomical Context for Prothrombin Deficiency

MalaCards organs/tissues related to Prothrombin Deficiency:

41
Liver, Brain, Testes, Colon, Ovary

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. 38 6
28665815 2017
2
Lupus anticoagulant-hypoprothrombinemia syndrome and immunoglobulin-A vasculitis: a report of Japanese sibling cases and review of the literature. 38
31392497 2019
3
Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 38
31147530 2019
4
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed. 38
28762299 2018
5
Inherited factor II deficiency with paradoxical hypercoagulability: a case report. 38
29389674 2018
6
Heparin, coumarin, protein C, antithrombin, fibrinolysis and other clotting related resistances: old and new concepts in blood coagulation. 38
29063359 2018
7
Lupus anticoagulant - hypoprothrombinemia syndrome: a rare cause of intracranial bleeding. 38
28009646 2017
8
New clotting disorders that cast new light on blood coagulation and may play a role in clinical practice. 38
28251495 2017
9
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran. 38
27894217 2017
10
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions. 38
28388959 2017
11
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. 38
26886363 2017
12
Lupus anticoagulant-hypoprothrombinemia syndrome presenting with co-existing cerebral venous thrombosis and subdural hemorrhage. 38
27743753 2016
13
Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies. 38
27380476 2016
14
Lupus anticoagulant acquired hypoprothrombinemia syndrome in childhood: two distinct patterns and review of the literature. 38
25929557 2015
15
A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 38
25242243 2014
16
Thrombin drives tumorigenesis in colitis-associated colon cancer. 38
24710407 2014
17
Immune-mediated disorders causing bleeding or thrombosis in lymphoproliferative diseases. 38
24615692 2014
18
Pulmonary hemorrhage in pediatric lupus anticoagulant hypoprothrombinemia syndrome. 38
24868219 2014
19
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review. 38
25275492 2014
20
Congenital prothrombin deficiency: an update. 38
23852823 2013
21
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. 38
23711336 2013
22
Congenital factor II deficiency: moroccan cases. 38
23190616 2013
23
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. 38
23152198 2013
24
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. 38
22392504 2012
25
Lupus anticoagulant-hypoprothrombinemia syndrome: report of 8 cases and review of the literature. 38
22932789 2012
26
[Analysis of phenotype and genotype in a Chinese pedigree with inherited prothrombin deficiency resulted from a homozygous mutation Tyr510Asp]. 38
22967428 2012
27
A Rare Case of Inherited Factor-II Deficiency Causing Life-Threatening Menorrhagia. 38
23439950 2012
28
Bleeding in the antiphospholipid syndrome. 38
22507807 2012
29
Acquired hypoprothrombinemia inducing bleeding in a girl with transient antiphospholipid antibody: case report. 38
22435262 2012
30
A severe neonatal presentation of factor II deficiency. 38
21692854 2011
31
Prophylaxis in severe prothrombin deficiency. 38
20950404 2011
32
Hereditary prothrombin deficiency. 38
19750864 2009
33
Congenital prothrombin deficiency. 38
19598065 2009
34
Hemospermia in patients with congenital coagulation disorders: a study of three cases. 38
19332986 2009
35
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 38
19141155 2008
36
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. 38
18306360 2008
37
Acquired prothrombin deficiency in a patient with follicular lymphoma. 38
18355267 2008
38
Control of ovulation-induced hemoperitoneum by oral contraceptives in a patient with congenital hypoprothrombinemia and in another with congenital factor V deficiency. 38
18583905 2008
39
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). 38
18852482 2008
40
Steady improvement of prothrombin levels after cyclophosphamide therapy in pediatric lupus anticoagulant hypoprothrombinemia syndrome (LAHPS). 38
17516128 2007
41
A second case of prothrombin Puerto Rico I in the United States. 38
17160994 2007
42
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. 38
17002658 2006
43
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. 38
17083522 2006
44
Thromboembolism complicating the treatment of lupus anticoagulant hypoprothrombinemia syndrome. 38
16924686 2006
45
Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia. 38
16503555 2006
46
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. 38
16543981 2006
47
Pregnancy and oral contraceptives in congenital bleeding disorders of the vitamin K-dependent coagulation factors. 38
16424651 2006
48
Retinal haemorrhages in premature infants: a pathogenetic alternative diagnosis to child abuse. 38
16029264 2005
49
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. 38
15892853 2005
50
Life-threatening bleeding, pregnancy and lupus anticoagulant: success after steroid and anticoagulant therapy. 38
15274653 2004

Variations for Prothrombin Deficiency

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
12.22 F7 F3 F2
2
Show member pathways
11.63 F7 F3 F2
3 11.47 F7 F3 F2
4
Show member pathways
11.17 GGCX F7 F2
5 9.98 GGCX F7 F2

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 Golgi lumen GO:0005796 8.96 F7 F2
2 serine-type peptidase complex GO:1905286 8.62 F7 F3

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

# Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 9.4 F7 F3
2 positive regulation of blood coagulation GO:0030194 9.37 F7 F2
3 positive regulation of positive chemotaxis GO:0050927 9.32 F7 F3
4 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.26 F7 F3
5 blood coagulation, extrinsic pathway GO:0007598 9.16 F7 F3
6 hemostasis GO:0007599 9.13 F7 F3 F2
7 blood coagulation GO:0007596 8.92 GGCX F7 F3 F2

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.96 F7 F2
2 serine-type endopeptidase activity GO:0004252 8.8 F7 F3 F2

Sources for Prothrombin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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