MCID: PRT012
MIFTS: 39

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 76 53 25 73
Hypoprothrombinemia 12 25
Dysprothrombinemia 53 25
Hereditary Factor Ii Deficiency Disease 73
Inherited Prothrombin Deficiency 53
Congenital Factor Ii Deficiency 53
Hypoprothrombinemia, Inherited 53
Inherited Factor Ii Deficiency 73
Inherited Hypoprothrombinemia 53
Deficiency, Prothrombin 40
Hypoprothrombinemias 44

Classifications:



External Ids:

Disease Ontology 12 DOID:2235
MeSH 44 D007020
NCIt 50 C131737

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 thrombophilia due to thrombin defect and factor vii deficiency. 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 Warfarin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes.

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 : 76 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 101)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to thrombin defect 29.9 F2 F3
2 factor vii deficiency 29.9 F2 F3 F7
3 antiphospholipid syndrome 29.8 F2 F3
4 pulmonary embolism 29.8 F2 F3
5 vitamin k deficiency hemorrhagic disease 29.8 F2 GGCX
6 purpura 29.8 F2 F3
7 thrombasthenia 29.7 F2 F3
8 factor v deficiency 29.6 F2 F3 F7
9 thrombosis 29.6 F2 F3 F7
10 prothrombin deficiency, congenital 12.6
11 acquired prothrombin deficiency 12.3
12 scott syndrome 11.4
13 lupus erythematosus 10.3
14 systemic lupus erythematosus 10.3
15 cerebral falx meningioma 10.1 F2 F3
16 leech infestation 10.1 F2 F3
17 intestinal impaction 10.1 F2 F3
18 fournier gangrene 10.1 F2 F3
19 cerebral sinovenous thrombosis 10.1 F2 F3
20 qualitative platelet defect 10.1 F2 F3
21 giant hemangioma 10.1 F2 F3
22 sagittal sinus thrombosis 10.1 F2 F3
23 blue toe syndrome 10.1 F2 F3
24 femoral neuropathy 10.1 F2 F3
25 alcohol-related birth defect 10.1 F2 F3
26 hantavirus pulmonary syndrome 10.1 F2 F3
27 von willebrand disease, type 1 10.1 F2 F3
28 korean hemorrhagic fever 10.1 F2 F3
29 hemorrhagic fever 10.1 F2 F3
30 marantic endocarditis 10.1 F2 F3
31 vascular hemostatic disease 10.1 F2 F3
32 splenic disease 10.1 F2 F3
33 purpura fulminans 10.1 F2 F3
34 hepatic infarction 10.1 F2 F3
35 peripheral vertigo 10.1 F2 F3
36 blood protein disease 10.1 F2 F3
37 endocardium disease 10.1 F2 F3
38 branch retinal artery occlusion 10.1 F2 F3
39 analbuminemia 10.1 F2 F3
40 hepatic vascular disease 10.1 F2 F3
41 pulmonary artery disease 10.1 F2 F3
42 factor xi deficiency 10.1 F2 F3
43 squamous cell papilloma 10.1 F2 F3
44 protein s deficiency 10.1 F2 F3
45 mesenteric vascular occlusion 10.1 F2 F7
46 vein disease 10.1 F2 F3
47 intracranial hypertension 10.1 F2 F3
48 thrombophilia 10.1 F2 F3
49 thrombophilia due to activated protein c resistance 10.1 F2 F3
50 afibrinogenemia 10.0 F2 F3

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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1, Phase 2 81-81-2 6691 54678486
2 Liver Extracts Phase 2
3 Anticoagulants Phase 1, Phase 2
4 Anti-Infective Agents
5 Antibiotics, Antitubercular
6 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 Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Unstable Warfarin Terminated NCT02267408 Phase 1, Phase 2
3 Antibiotic-associated Coagulopathy Unknown status NCT02172833

Search NIH Clinical Center for Prothrombin Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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, Heart

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(show top 50) (show all 62)
# Title Authors Year
1
Inherited factor II deficiency with paradoxical hypercoagulability: a case report. ( 29389674 )
2018
2
Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. ( 28665815 )
2017
3
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. ( 26886363 )
2016
4
Congenital factor II deficiency: moroccan cases. ( 23190616 )
2013
5
Congenital prothrombin deficiency: an update. ( 23852823 )
2013
6
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. ( 23711336 )
2013
7
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. ( 23152198 )
2013
8
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. ( 22392504 )
2012
9
A Rare Case of Inherited Factor-II Deficiency Causing Life-Threatening Menorrhagia. ( 23439950 )
2012
10
A severe neonatal presentation of factor II deficiency. ( 21692854 )
2011
11
Prophylaxis in severe prothrombin deficiency. ( 20950404 )
2011
12
Hereditary prothrombin deficiency. ( 19750864 )
2009
13
Congenital prothrombin deficiency. ( 19598065 )
2009
14
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). ( 18852482 )
2008
15
Acquired prothrombin deficiency in a patient with follicular lymphoma. ( 18355267 )
2008
16
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. ( 18306360 )
2008
17
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. ( 17002658 )
2006
18
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. ( 16543981 )
2006
19
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. ( 17083522 )
2006
20
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. ( 15892853 )
2005
21
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. ( 14504091 )
2004
22
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). ( 15284583 )
2004
23
[Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. ( 14575584 )
2003
24
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. ( 12437569 )
2002
25
Rescue of prothrombin-deficiency by transgene expression in mice. ( 12529749 )
2002
26
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. ( 11241228 )
2001
27
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. ( 11154146 )
2000
28
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. ( 10706027 )
1999
29
Prothrombin deficiency results in embryonic and neonatal lethality in mice. ( 9636195 )
1998
30
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. ( 9636196 )
1998
31
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. ( 8980268 )
1997
32
Catastrophic haemorrhage in a case of paediatric primary antiphospholipid syndrome and factor II deficiency. ( 9116722 )
1997
33
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. ( 7978060 )
1994
34
Combined inherited protein S and heparin co-factor II deficiency in a patient with upper limb thrombosis: a family study. ( 1440513 )
1992
35
Hypoprothrombinemia (factor II deficiency): report of a case and review of literature. ( 1824640 )
1991
36
Transient acquired factor II deficiency with Mycoplasma pneumoniae infection. ( 1856497 )
1991
37
Detection of the carrier state in congenital "true" prothrombin deficiency. ( 3354565 )
1988
38
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. ( 3115223 )
1987
39
Association of hereditary heparin co-factor II deficiency with thrombosis. ( 2863444 )
1985
40
Constitutional heparin co-factor II deficiency associated with recurrent thrombosis. ( 2863445 )
1985
41
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. ( 6409139 )
1983
42
Prothrombin deficiency in a cocker spaniel. ( 6980872 )
1982
43
Antiprothrombinase and factor II deficiency in a non SLE patient. ( 7314062 )
1981
44
Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency. ( 418829 )
1978
45
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. ( 4434662 )
1974
46
Hereditary prothrombin deficiency. ( 4982446 )
1970
47
Christmas disease associated with prothrombin deficiency and thrombasthenia. ( 5350280 )
1969
48
A STUDY OF THREE CASES OF FAMILIAL CONGENITAL HYPOPROTHROMBINAEMIA (FACTOR II DEFICIENCY). ( 14194114 )
1964
49
Severe isolated prothrombin deficiency: an acquired state with complete recovery. ( 13962584 )
1962
50
Idiopathic steatorrhea with hemorrhagic manifestations due to prothrombin deficiency. ( 13236055 )
1955

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

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 F2 F7
2 serine-type peptidase complex GO:1905286 8.62 F3 F7

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 F3 F7
2 positive regulation of blood coagulation GO:0030194 9.37 F2 F7
3 positive regulation of positive chemotaxis GO:0050927 9.32 F3 F7
4 blood coagulation, extrinsic pathway GO:0007598 9.26 F3 F7
5 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.16 F3 F7
6 hemostasis GO:0007599 9.13 F2 F3 F7
7 blood coagulation GO:0007596 8.92 F2 F3 F7 GGCX

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 F2 F7
2 serine-type endopeptidase activity GO:0004252 8.8 F2 F3 F7

Sources for Prothrombin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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