MCID: PRT012
MIFTS: 41

Prothrombin Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Prothrombin Deficiency

MalaCards integrated aliases for Prothrombin Deficiency:

Name: Prothrombin Deficiency 12 52 25 15
Factor Ii Deficiency 12 74 52 25 71
Hypoprothrombinemia 12 25
Dysprothrombinemia 52 25
Hereditary Factor Ii Deficiency Disease 71
Inherited Prothrombin Deficiency 52
Congenital Factor Ii Deficiency 52
Hypoprothrombinemia, Inherited 52
Inherited Factor Ii Deficiency 71
Inherited Hypoprothrombinemia 52
Deficiency, Prothrombin 39
Hypoprothrombinemias 43

Classifications:



External Ids:

Disease Ontology 12 DOID:2235
MeSH 43 D007020
NCIt 49 C131737
UMLS 71 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency

NIH Rare Diseases : 52 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 prothrombin deficiency, congenital and scott syndrome. 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 Thrombin and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are cardiovascular system and hematopoietic system

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 : 74 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 227)
# Related Disease Score Top Affiliating Genes
1 prothrombin deficiency, congenital 33.8 SERPINC1 F2 F10
2 scott syndrome 31.4 F2 F10
3 thrombasthenia 30.4 F3 F2
4 splenic disease 30.0 F3 F2
5 placenta disease 30.0 SERPINC1 F3 F2
6 purpura 29.8 SERPINC1 F3 F2
7 bilirubin metabolic disorder 29.8 F9 F3 F2
8 antiphospholipid syndrome 29.7 SERPINC1 F3 F2 F10
9 hemophilia 29.6 F9 F8 F7
10 hemophilia a 29.4 F9 F8 F7 F3
11 acquired hemophilia a 29.2 F9 F8 F3 F11
12 heart disease 29.1 SERPINC1 F8 F7 F3 F2
13 factor xii deficiency 29.1 SERPINC1 F9 F3 F11
14 thrombocytopenia 29.0 SERPINC1 F9 F3 F2 F10
15 thrombophilia due to thrombin defect 29.0 SERPINC1 F8 F3 F2 F10
16 vitamin k deficiency bleeding 28.8 SERPINC1 GGCX F9 F8 F7 F3
17 acquired hemophilia 28.2 F9 F8 F3 F11 F10
18 factor vii deficiency 28.2 SERPINC1 F9 F8 F7 F3 F2
19 pulmonary embolism 28.0 SERPINC1 F9 F8 F3 F2 F10
20 disseminated intravascular coagulation 27.5 SERPINC1 F9 F7 F3 F2 F11
21 afibrinogenemia, congenital 27.4 SERPINC1 MCFD2 F8 F7 F3 F2
22 factor x deficiency 27.3 MCFD2 F9 F7 F3 F2 F11
23 thrombosis 27.3 SERPINC1 F9 F8 F7 F3 F2
24 hemorrhagic disease 27.3 SERPINC1 F9 F8 F7 F3 F2
25 factor v deficiency 27.1 MCFD2 LMAN1 F9 F8 F7 F3
26 hemophilia b 27.1 SERPINC1 F9 F8 F7 F3 F2
27 hemarthrosis 27.0 MCFD2 F9 F8 F7 F3 F2
28 factor viii deficiency 26.5 MCFD2 LMAN1 F9 F8 F7 F3
29 acquired prothrombin deficiency 12.4
30 gastric hemangioma 10.4 F3 F2
31 renal pelvis squamous cell carcinoma 10.4 F3 F2
32 papillary adenofibroma 10.4 F3 F2
33 emphysematous cholecystitis 10.4 F3 F2
34 femoral neuropathy 10.4 F3 F2
35 lemierre's syndrome 10.4 F3 F2
36 systemic lupus erythematosus 10.4
37 cerebral sinovenous thrombosis 10.4 F3 F2
38 hemopericardium 10.4 F3 F2
39 intracranial hypotension 10.4 F3 F2
40 splenic sequestration 10.4 F3 F2
41 hantavirus pulmonary syndrome 10.3 F3 F2
42 analbuminemia 10.3 F3 F2
43 intracranial hypertension, idiopathic 10.3 F3 F2
44 spinal cord infarction 10.3 SERPINC1 F2
45 sudden sensorineural hearing loss 10.3 SERPINC1 F2
46 anuria 10.3 F3 F2
47 lateral sinus thrombosis 10.3 SERPINC1 F2
48 tricuspid valve insufficiency 10.3 F3 F2
49 waterhouse-friderichsen syndrome 10.3 SERPINC1 F2
50 vulvar angiokeratoma 10.3 SERPINC1 F3

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 cardiovascular system MP:0005385 9.86 F10 F11 F2 F3 F7 F9
2 hematopoietic system MP:0005397 9.76 F11 F2 F3 F8 F9 GGCX
3 homeostasis/metabolism MP:0005376 9.7 F10 F11 F2 F3 F7 F8
4 mortality/aging MP:0010768 9.32 F10 F11 F2 F3 F7 F8

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 Antibiotics, Antitubercular
8 Anti-Infective Agents
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) Unknown status NCT03273998

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

Cochrane evidence based reviews: hypoprothrombinemias

Genetic Tests for Prothrombin Deficiency

Anatomical Context for Prothrombin Deficiency

MalaCards organs/tissues related to Prothrombin Deficiency:

40
Liver, Brain, Testes, Colon, Ovary

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(show top 50) (show all 128)
# 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. 52 61
28665815 2017
2
Lupus anticoagulant-hypoprothrombinemia syndrome and immunoglobulin-A vasculitis: a report of Japanese sibling cases and review of the literature. 61
31392497 2019
3
A case report of severe bleeding due to lupus anticoagulant hypoprothrombinemia syndrome. 61
31515751 2019
4
Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 61
31147530 2019
5
Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed. 61
28762299 2018
6
Inherited factor II deficiency with paradoxical hypercoagulability: a case report. 61
29389674 2018
7
Heparin, coumarin, protein C, antithrombin, fibrinolysis and other clotting related resistances: old and new concepts in blood coagulation. 61
29063359 2018
8
Lupus anticoagulant - hypoprothrombinemia syndrome: a rare cause of intracranial bleeding. 61
28009646 2017
9
New clotting disorders that cast new light on blood coagulation and may play a role in clinical practice. 61
28251495 2017
10
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran. 61
27894217 2017
11
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions. 61
28388959 2017
12
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. 61
26886363 2017
13
Lupus anticoagulant-hypoprothrombinemia syndrome presenting with co-existing cerebral venous thrombosis and subdural hemorrhage. 61
27743753 2016
14
Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies. 61
27380476 2016
15
Lupus anticoagulant acquired hypoprothrombinemia syndrome in childhood: two distinct patterns and review of the literature. 61
25929557 2015
16
A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 61
25242243 2014
17
Thrombin drives tumorigenesis in colitis-associated colon cancer. 61
24710407 2014
18
Immune-mediated disorders causing bleeding or thrombosis in lymphoproliferative diseases. 61
24615692 2014
19
Pulmonary hemorrhage in pediatric lupus anticoagulant hypoprothrombinemia syndrome. 61
24868219 2014
20
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review. 61
25275492 2014
21
Congenital prothrombin deficiency: an update. 61
23852823 2013
22
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. 61
23711336 2013
23
Congenital factor II deficiency: moroccan cases. 61
23190616 2013
24
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. 61
23152198 2013
25
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. 61
22392504 2012
26
Lupus anticoagulant-hypoprothrombinemia syndrome: report of 8 cases and review of the literature. 61
22932789 2012
27
[Analysis of phenotype and genotype in a Chinese pedigree with inherited prothrombin deficiency resulted from a homozygous mutation Tyr510Asp]. 61
22967428 2012
28
A Rare Case of Inherited Factor-II Deficiency Causing Life-Threatening Menorrhagia. 61
23439950 2012
29
Bleeding in the antiphospholipid syndrome. 61
22507807 2012
30
Acquired hypoprothrombinemia inducing bleeding in a girl with transient antiphospholipid antibody: case report. 61
22435262 2012
31
A severe neonatal presentation of factor II deficiency. 61
21692854 2011
32
Prophylaxis in severe prothrombin deficiency. 61
20950404 2011
33
Hereditary prothrombin deficiency. 61
19750864 2009
34
Congenital prothrombin deficiency. 61
19598065 2009
35
Hemospermia in patients with congenital coagulation disorders: a study of three cases. 61
19332986 2009
36
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 61
19141155 2008
37
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. 61
18306360 2008
38
Acquired prothrombin deficiency in a patient with follicular lymphoma. 61
18355267 2008
39
Control of ovulation-induced hemoperitoneum by oral contraceptives in a patient with congenital hypoprothrombinemia and in another with congenital factor V deficiency. 61
18583905 2008
40
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). 61
18852482 2008
41
Steady improvement of prothrombin levels after cyclophosphamide therapy in pediatric lupus anticoagulant hypoprothrombinemia syndrome (LAHPS). 61
17516128 2007
42
A second case of prothrombin Puerto Rico I in the United States. 61
17160994 2007
43
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. 61
17002658 2006
44
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. 61
17083522 2006
45
Thromboembolism complicating the treatment of lupus anticoagulant hypoprothrombinemia syndrome. 61
16924686 2006
46
Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia. 61
16503555 2006
47
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. 61
16543981 2006
48
Pregnancy and oral contraceptives in congenital bleeding disorders of the vitamin K-dependent coagulation factors. 61
16424651 2006
49
Retinal haemorrhages in premature infants: a pathogenetic alternative diagnosis to child abuse. 61
16029264 2005
50
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. 61
15892853 2005

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
13.43 MCFD2 LMAN1 GGCX F9 F8 F7
2
Show member pathways
13.05 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
12.58 SERPINC1 F9 F8 F7 F3 F2
4
Show member pathways
11.76 SERPINC1 F9 F8 F7 F3 F2
5
Show member pathways
11.75 GGCX F9 F7 F2 F10
6 11.44 SERPINC1 LMAN1 F9 F8 F7 F3
7 10.73 GGCX F9 F7 F2 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 9.97 SERPINC1 F9 F8 F7 F3 F2
2 extracellular space GO:0005615 9.86 SERPINC1 F9 F8 F7 F3 F2
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.61 MCFD2 LMAN1 F8
4 Golgi lumen GO:0005796 9.46 F9 F7 F2 F10
5 collagen-containing extracellular matrix GO:0062023 9.43 SERPINC1 LMAN1 F9 F7 F3 F2
6 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
7 serine-type peptidase complex GO:1905286 9.32 F7 F3
8 endoplasmic reticulum lumen GO:0005788 9.1 SERPINC1 F9 F8 F7 F2 F10

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 F9 F7 F2 F11 F10
2 positive regulation of cell migration GO:0030335 9.72 F7 F3 F10
3 ER to Golgi vesicle-mediated transport GO:0006888 9.7 MCFD2 LMAN1 F9 F8 F7 F2
4 positive regulation of protein kinase B signaling GO:0051897 9.69 F7 F3 F10
5 COPII vesicle coating GO:0048208 9.61 MCFD2 LMAN1 F8
6 blood coagulation, intrinsic pathway GO:0007597 9.56 F9 F8 F2 F11
7 hemostasis GO:0007599 9.56 SERPINC1 F9 F8 F7 F3 F2
8 acute-phase response GO:0006953 9.54 F8 F2
9 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 F11
10 protein N-linked glycosylation via asparagine GO:0018279 9.52 MCFD2 LMAN1
11 blood coagulation, extrinsic pathway GO:0007598 9.5 F7 F3 F10
12 positive regulation of blood coagulation GO:0030194 9.49 F7 F2
13 positive regulation of positive chemotaxis GO:0050927 9.48 F7 F3
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
15 blood coagulation GO:0007596 9.32 SERPINC1 LMAN1 GGCX F9 F8 F7

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 9.65 MCFD2 F9 F7 F2 F10
2 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
3 heparin binding GO:0008201 9.5 SERPINC1 F2 F11
4 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
5 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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