MCID: PRT012
MIFTS: 45

Prothrombin Deficiency

Categories: Rare diseases, Genetic diseases, Blood 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

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 prothrombin deficiency, congenital and thrombasthenia. An important gene associated with Prothrombin Deficiency is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Warfarin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 165)
# Related Disease Score Top Affiliating Genes
1 prothrombin deficiency, congenital 33.2 APOH F2 F5 SERPINC1
2 thrombasthenia 30.1 F2 F3 F5
3 purpura 28.2 APOH F2 F3 SERPINC1 THBD
4 acquired prothrombin deficiency 12.1
5 cerebral falx meningioma 10.9 F2 F3
6 qualitative platelet defect 10.8 F2 F3
7 femoral neuropathy 10.8 F2 F3
8 hantavirus pulmonary syndrome 10.8 F2 F3
9 mesenteric vascular occlusion 10.8 F2 F7
10 splenic disease 10.8 F2 F3
11 blood protein disease 10.7 F2 SERPINC1
12 paracetamol poisoning 10.7 F2 F5
13 heparin-induced thrombocytopenia 10.7 F3 SERPINC1
14 alpha-2-plasmin inhibitor deficiency 10.7 F2 SERPINC1
15 anterior spinal artery syndrome 10.7 F2 SERPINC1
16 subendocardial myocardial infarction 10.7 F2 SERPINC1
17 hemoglobin e disease 10.7 F2 F5
18 lemierre's syndrome 10.7 F11 F3
19 cryptogenic cirrhosis 10.6 F2 F5
20 esophageal varix 10.6 F2 SERPINC1
21 porencephaly 10.6 F2 F5
22 angina pectoris 10.6 F3 SERPINC1
23 ischemic heart disease 10.6 F2 F7
24 congenital disorder of glycosylation, type ia 10.6 F9 SERPINC1
25 sticky platelet syndrome 10.6 F5 SERPINC1
26 hypersplenism 10.6 F2 SERPINC1
27 coronary thrombosis 10.6 F3 SERPINC1
28 vitamin k deficiency hemorrhagic disease 10.6 F2 F8
29 malignant skin fibrous histiocytoma 10.5 F7 F9
30 von willebrand disease, type 2 10.5 F7 F8
31 anterior cranial fossa meningioma 10.5 F2 F3 F7
32 endocardium disease 10.5 F2 F3
33 intestinal impaction 10.5 F2 F3 SERPINC1
34 leech infestation 10.5 F2 F3 SERPINC1
35 giant hemangioma 10.5 F2 F3 SERPINC1
36 blue toe syndrome 10.5 F2 F3 SERPINC1
37 intracranial embolism 10.5 F2 F3 SERPINC1
38 purpura fulminans 10.5 F2 F3 SERPINC1
39 korean hemorrhagic fever 10.5 F2 F3 SERPINC1
40 hemorrhagic fever 10.5 F2 F3 SERPINC1
41 hepatic vascular disease 10.5 F2 F3 SERPINC1
42 multicentric castleman disease 10.5 F3 F8
43 hepatitis a 10.5 F2 F3 SERPINC1
44 intermediate coronary syndrome 10.5 F3 SERPINC1
45 thrombocytosis 10.5 F2 F3 SERPINC1
46 factor v and factor viii, combined deficiency of, 2 10.5 F5 F8
47 arteries, anomalies of 10.4 F2 F3 SERPINC1
48 scott syndrome 10.4 F2 F5
49 compartment syndrome 10.4 F2 F8
50 splenic infarction 10.4 APOH 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 THBD F5 F7 F9 F11 F2
2 homeostasis/metabolism MP:0005376 9.9 THBD F5 F7 F8 APOH F9
3 embryo MP:0005380 9.87 F5 THBD F9 F2 SERPINC1 F3
4 hematopoietic system MP:0005397 9.86 F3 THBD TNFSF13B F8 F11 F9
5 immune system MP:0005387 9.61 THBD TNFSF13B F8 F9 F11 F2
6 mortality/aging MP:0010768 9.36 THBD F5 F7 F8 APOH F9

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-Bacterial Agents
5 Antibiotics, Antitubercular
6 Anti-Infective 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, Testes, Brain

Publications for Prothrombin Deficiency

Articles related to Prothrombin Deficiency:

(show top 50) (show all 54)
# Title Authors Year
1
Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. ( 28665815 )
2017
2
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. ( 26886363 )
2016
3
Congenital factor II deficiency: moroccan cases. ( 23190616 )
2013
4
Congenital prothrombin deficiency: an update. ( 23852823 )
2013
5
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. ( 23711336 )
2013
6
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. ( 23152198 )
2013
7
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. ( 22392504 )
2012
8
A severe neonatal presentation of factor II deficiency. ( 21692854 )
2011
9
Prophylaxis in severe prothrombin deficiency. ( 20950404 )
2011
10
Hereditary prothrombin deficiency. ( 19750864 )
2009
11
Congenital prothrombin deficiency. ( 19598065 )
2009
12
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). ( 18852482 )
2008
13
Acquired prothrombin deficiency in a patient with follicular lymphoma. ( 18355267 )
2008
14
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. ( 18306360 )
2008
15
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. ( 17002658 )
2006
16
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. ( 16543981 )
2006
17
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. ( 17083522 )
2006
18
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. ( 15892853 )
2005
19
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. ( 14504091 )
2004
20
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). ( 15284583 )
2004
21
A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population. ( 14629473 )
2003
22
[Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. ( 14575584 )
2003
23
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. ( 12437569 )
2002
24
Rescue of prothrombin-deficiency by transgene expression in mice. ( 12529749 )
2002
25
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. ( 11241228 )
2001
26
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. ( 11154146 )
2000
27
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. ( 10706027 )
1999
28
Prothrombin deficiency results in embryonic and neonatal lethality in mice. ( 9636195 )
1998
29
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. ( 9636196 )
1998
30
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. ( 8980268 )
1997
31
Catastrophic haemorrhage in a case of paediatric primary antiphospholipid syndrome and factor II deficiency. ( 9116722 )
1997
32
[Intracranial hemorrhage in congenital factor II deficiency]. ( 8668601 )
1995
33
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. ( 7978060 )
1994
34
Detection of the carrier state in congenital "true" prothrombin deficiency. ( 3354565 )
1988
35
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. ( 3115223 )
1987
36
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. ( 6409139 )
1983
37
Prothrombin deficiency in a cocker spaniel. ( 6980872 )
1982
38
Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency. ( 418829 )
1978
39
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. ( 4434662 )
1974
40
Hereditary prothrombin deficiency. ( 4982446 )
1970
41
Christmas disease associated with prothrombin deficiency and thrombasthenia. ( 5350280 )
1969
42
Severe isolated prothrombin deficiency: an acquired state with complete recovery. ( 13962584 )
1962
43
The measurement of prothrombin in plasma; a case of prothrombin deficiency. ( 13034913 )
1953
44
CLINICO-pathological conference; diffuse nodular cirrhosis and subacute hepatitis; icterus; cerebral edema and probable prothrombin deficiency. ( 15434966 )
1950
45
Prothrombin deficiency of the newborn. ( 18129082 )
1949
46
The nature of the prothrombin deficiency in dicoumarin plasma. ( 18130447 )
1949
47
The Use of Synthetic Vitamin K Substitutes in the Treatment of Prothrombin Deficiency. ( 20322499 )
1942
48
CLINICAL SIGNIFICANCE OF PROTHROMBIN DEFICIENCY AND ITS TREATMENT. ( 17857921 )
1941
49
Prothrombin Deficiency in Disease of the Liver and Bile Passages, and its Treatment with Synthetic Vitamin K. ( 20783619 )
1941
50
HAEMORRHAGIC TENDENCY ASSOCIATED WITH PROTHROMBIN DEFICIENCY AND ITS TREATMENT WITH VITAMIN K AND BILE. ( 20321723 )
1940

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
13.07 APOH F11 F2 F3 F5 F7
2
Show member pathways
12.58 F11 F2 F3 F5 F7 F8
3 11.8 F11 F2 F3 F5 F7 F8
4
Show member pathways
11.58 F2 F7 F9
5
Show member pathways
11.52 F11 F2 F3 F5 F7 F8
6 10.9 F2 TFPI
7 10.67 F2 F7 F9

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 9.7 APOH F11 F2 F3 F5 F7
2 endoplasmic reticulum lumen GO:0005788 9.63 F2 F5 F7 F8 F9 SERPINC1
3 Golgi lumen GO:0005796 9.54 F2 F7 F9
4 extracellular space GO:0005615 9.4 APOH F11 F2 F3 F5 F7
5 serine-type peptidase complex GO:1905286 9.26 F3 F7
6 plasma membrane GO:0005886 10.06 F11 F2 F3 F5 F7 F8

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.83 F2 F5 F7 F8 F9
2 platelet degranulation GO:0002576 9.73 APOH F5 F8
3 signal peptide processing GO:0006465 9.67 F2 F7 F9
4 negative regulation of blood coagulation GO:0030195 9.65 APOH TFPI THBD
5 blood coagulation GO:0007596 9.65 F11 F2 F3 F5 F7 F8
6 positive regulation of blood coagulation GO:0030194 9.63 APOH F2 F7
7 regulation of blood coagulation GO:0030193 9.62 APOH F11 F2 SERPINC1
8 peptidyl-glutamic acid carboxylation GO:0017187 9.58 F2 F7 F9
9 blood coagulation, extrinsic pathway GO:0007598 9.56 F3 F7 F9 TFPI
10 plasminogen activation GO:0031639 9.55 APOH F11
11 blood coagulation, intrinsic pathway GO:0007597 9.55 APOH F11 F2 F8 F9
12 positive regulation of positive chemotaxis GO:0050927 9.54 F3 F7
13 negative regulation of fibrinolysis GO:0051918 9.54 APOH F2 THBD
14 negative regulation of platelet activation GO:0010544 9.52 F2 THBD
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.51 F3 F7
16 hemostasis GO:0007599 9.32 F11 F2 F3 F5 F7 F8

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.56 F11 F2 F7 F9
2 heparin binding GO:0008201 9.46 APOH F11 F2 SERPINC1
3 serine-type peptidase activity GO:0008236 9.26 F11 F2 F7 F9
4 serine-type endopeptidase activity GO:0004252 9.02 F11 F2 F3 F7 F9

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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